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Von Hippel-Lindau syndrome(VHL)

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Synonyms: VHL; VHL syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: von Hippel-Lindau syndrome (46659004); VHL - von Hippel-Lindau syndrome (46659004); Lindau's disease (46659004); Von Hippel-Lindau syndrome (46659004); Familial cerebello-retinal angiomatosis (46659004); Lindau' disease (46659004); Cerebroretinal angiomatosis (46659004)
 
Genes (locations): CCND1 (11q13.3); VHL (3p25.3)
OMIM®: 193300
Orphanet: ORPHA892

Disease characteristics

Excerpted from the GeneReview: Von Hippel-Lindau Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]
Authors:
Carlijn Frantzen  |  Timothy D Klasson  |  Thera P Links, et. al.   view full author information

Additional descriptions

From OMIM
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10; 611183) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B. Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.  http://www.omim.org/entry/193300
From GHR
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous if they develop during pregnancy.About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.  http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome

Clinical features

Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
The presence of a neoplasm of the kidney.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A rare, usually benign tumor that develops from cells of the paraganglia. Paraganglia are a collection of cells that came from embryonic nervous tissue, and are found near the adrenal glands and some blood vessels and nerves. Paragangliomas that develop in the adrenal gland are called pheochromocytomas. Those that develop outside of the adrenal glands near blood vessels or nerves are called glomus tumors or chemodectomas.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Neuroendocrine neoplasm
MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
Pulmonary capillary hemangiomatosis
MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Neoplasm of the middle ear
MedGen UID:
87509
Concept ID:
C0345617
Neoplastic Process
A tumor (abnormal growth of tissue) of the middle ear.
Neoplasm of the pancreas
MedGen UID:
138068
Concept ID:
C0346647
Neoplastic Process
The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. Pancreatic cancer usually begins in the cells that produce the juices. Some risk factors for developing pancreatic cancer include. - Smoking . - Long-term diabetes . - Chronic pancreatitis . - Certain hereditary disorders . Pancreatic cancer is hard to catch early. It doesn't cause symptoms right away. When you do get symptoms, they are often vague or you may not notice them. They include yellowing of the skin and eyes, pain in the abdomen and back, weight loss and fatigue. Also, because the pancreas is hidden behind other organs, health care providers cannot see or feel the tumors during routine exams. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose it. Because it is often found late and it spreads quickly, pancreatic cancer can be hard to treat. Possible treatments include surgery, radiation, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.
Cerebellar hemangioblastoma
MedGen UID:
234108
Concept ID:
C1332900
Neoplastic Process
A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Visceral angiomatosis
MedGen UID:
867591
Concept ID:
C4021977
Disease or Syndrome
Papillary cystadenoma of the epididymis
MedGen UID:
869791
Concept ID:
C4024221
Neoplastic Process
A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
Spinal hemangioblastoma
MedGen UID:
869793
Concept ID:
C4024223
Neoplastic Process
A 'hemangioblastoma of the spinal cord.
Arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Arteriovenous malformation
MedGen UID:
2042
Concept ID:
C0003857
Congenital Abnormality
Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and veins. They are connected to each other, with no capillaries. That interferes with the blood circulation in an organ. AVMs can happen anywhere, but they are more common in the brain or spinal cord. Most people with brain or spinal cord AVMs have few, if any, major symptoms. Sometimes they can cause seizures or headaches. AVMs are rare. The cause is not known, but they seem to develop during pregnancy or soon after birth. Doctors use imaging tests to detect them. Medicines can help with the symptoms from AVMs. The greatest danger is hemorrhage. Treatment for AVMs can include surgery or focused radiation therapy. Because surgery can be risky, you and your doctor need to make a decision carefully. NIH: National Institute of Neurological Disorders and Stroke.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Hypertensive crisis
MedGen UID:
5701
Concept ID:
C0020546
Finding
Pulmonary capillary hemangiomatosis
MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Visceral angiomatosis
MedGen UID:
867591
Concept ID:
C4021977
Disease or Syndrome
Abnormality of the cerebral vasculature
MedGen UID:
867613
Concept ID:
C4022001
Anatomical Abnormality
Telangiectasia of the skin
MedGen UID:
867629
Concept ID:
C4022018
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Abnormality of the retinal vasculature
MedGen UID:
870311
Concept ID:
C4024753
Anatomical Abnormality
An arterial or venous retinal vascular anomaly.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A rare, usually benign tumor that develops from cells of the paraganglia. Paraganglia are a collection of cells that came from embryonic nervous tissue, and are found near the adrenal glands and some blood vessels and nerves. Paragangliomas that develop in the adrenal gland are called pheochromocytomas. Those that develop outside of the adrenal glands near blood vessels or nerves are called glomus tumors or chemodectomas.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Neuroendocrine neoplasm
MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (McNiel and McPherson, 1971).
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Abnormality of the macula
MedGen UID:
488928
Concept ID:
C0730362
Disease or Syndrome
An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Abnormality of the retinal vasculature
MedGen UID:
870311
Concept ID:
C4024753
Anatomical Abnormality
An arterial or venous retinal vascular anomaly.
Polycythaemia
MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Renal neoplasm
MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
The presence of a neoplasm of the kidney.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Multiple renal cysts
MedGen UID:
140917
Concept ID:
C0431718
Congenital Abnormality
The presence of many cysts in the kidney.
Multicystic kidney
MedGen UID:
811388
Concept ID:
C3714581
Disease or Syndrome
A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Papillary cystadenoma of the epididymis
MedGen UID:
869791
Concept ID:
C4024221
Neoplastic Process
A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
Epididymal cyst
MedGen UID:
850944
Concept ID:
CN231294
Finding
A smooth, extratesticular, spherical cyst in the head of the epididymis.
Dizziness
MedGen UID:
4360
Concept ID:
C0012833
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include. -Hearing loss in older people. -Exposure to loud noises. -Ear and sinus infections. -Heart or blood vessel problems. -Meniere's disease. -Brain tumors. -Hormonal changes in women. -Thyroid problems. -Certain medicines. Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders .
Neoplasm of the middle ear
MedGen UID:
87509
Concept ID:
C0345617
Neoplastic Process
A tumor (abnormal growth of tissue) of the middle ear.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A rare, usually benign tumor that develops from cells of the paraganglia. Paraganglia are a collection of cells that came from embryonic nervous tissue, and are found near the adrenal glands and some blood vessels and nerves. Paragangliomas that develop in the adrenal gland are called pheochromocytomas. Those that develop outside of the adrenal glands near blood vessels or nerves are called glomus tumors or chemodectomas.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically hypersecrete catecholamines. Symptoms of PGL/PCC result either from mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985). One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125). Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656). A subtype of autosomal dominant migraine with aura (MA), familial hemiplegic migraine (FHM; see 141500), is caused by mutation in the CACNA1A gene (601011) on chromosome 19p13 (FHM1; 141500), by mutation in the ATP1A2 gene (182340) on chromosome 1q21 (FHM2; 602481), or by mutation in the SCN1A gene (182389) on chromosome 2q24 (FHM3; 609634). Another locus for FHM has been mapped to chromosome 1q31 (FHM4; see 607516). There is evidence that a polymorphism in the estrogen receptor gene (ESR1; 133430.0005) and a polymorphism in the TNF gene (191160.0004) may confer susceptibility to migraine. A polymorphism in the endothelin receptor type A gene (EDNRA; 131243.0001) may confer resistance to migraine.
Raised intracranial pressure
MedGen UID:
56241
Concept ID:
C0151740
Disease or Syndrome
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Neuroendocrine neoplasm
MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
Hemiplegia/hemiparesis
MedGen UID:
852561
Concept ID:
C0375206
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Cerebellar hemangioblastoma
MedGen UID:
234108
Concept ID:
C1332900
Neoplastic Process
A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Cerebellar hypoplasia and atrophy
MedGen UID:
480852
Concept ID:
C3279222
Finding
Abnormality of the cerebral vasculature
MedGen UID:
867613
Concept ID:
C4022001
Anatomical Abnormality
Spinal hemangioblastoma
MedGen UID:
869793
Concept ID:
C4024223
Neoplastic Process
A 'hemangioblastoma of the spinal cord.
Pulmonary capillary hemangiomatosis
MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Disease of liver
MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. . Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. .
Nausea and vomiting
MedGen UID:
45015
Concept ID:
C0027498
Sign or Symptom
Nausea is an uneasy or unsettled feeling in the stomach together with an urge to vomit. Nausea and vomiting, or throwing up, are not diseases. They can be symptoms of many different conditions. These include morning sickness during pregnancy, infections, migraine headaches, motion sickness, food poisoning, cancer chemotherapy or other medicines. . For vomiting in children and adults, avoid solid foods until vomiting has stopped for at least six hours. Then work back to a normal diet. Drink small amounts of clear liquids to avoid dehydration. Nausea and vomiting are common. Usually, they are not serious. You should see a doctor immediately if you suspect poisoning or if you have. -Vomited for longer than 24 hours. - Blood in the vomit. - Severe abdominal pain . - Headache and stiff neck . - Signs of dehydration, such as dry mouth, infrequent urination or dark urine .
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A cyst of the pancreas that possess a lining of mucous epithelium.
Neoplasm of the pancreas
MedGen UID:
138068
Concept ID:
C0346647
Neoplastic Process
The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. Pancreatic cancer usually begins in the cells that produce the juices. Some risk factors for developing pancreatic cancer include. - Smoking . - Long-term diabetes . - Chronic pancreatitis . - Certain hereditary disorders . Pancreatic cancer is hard to catch early. It doesn't cause symptoms right away. When you do get symptoms, they are often vague or you may not notice them. They include yellowing of the skin and eyes, pain in the abdomen and back, weight loss and fatigue. Also, because the pancreas is hidden behind other organs, health care providers cannot see or feel the tumors during routine exams. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose it. Because it is often found late and it spreads quickly, pancreatic cancer can be hard to treat. Possible treatments include surgery, radiation, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute.
Lymphatic Diseases
MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating).
Pulmonary capillary hemangiomatosis
MedGen UID:
87404
Concept ID:
C0340548
Disease or Syndrome
Retinal capillary hemangioma
MedGen UID:
271678
Concept ID:
C1514915
Neoplastic Process
A benign vascular tumor of the retina without any neoplastic characteristics.
Visceral angiomatosis
MedGen UID:
867591
Concept ID:
C4021977
Disease or Syndrome
Telangiectasia of the skin
MedGen UID:
867629
Concept ID:
C4022018
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVon Hippel-Lindau syndrome
Follow this link to review classifications for Von Hippel-Lindau syndrome in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS)
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628

Recent clinical studies

Etiology

Junaid M, Ur Rashid M, Afsheen A, Tahir A, Ahmad M, Kalsoom A
J Ayub Med Coll Abbottabad 2015 Oct-Dec;27(4):930-2. PMID: 27004355
Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, Pacak K, Kebebew E
J Clin Endocrinol Metab 2015 Dec;100(12):4498-504. Epub 2015 Oct 9 doi: 10.1210/jc.2015-3045. [Epub ahead of print] PMID: 26451910Free PMC Article
Weisbrod AB, Kitano M, Thomas F, Williams D, Gulati N, Gesuwan K, Liu Y, Venzon D, Turkbey I, Choyke P, Yao J, Libutti SK, Nilubol N, Linehan WM, Kebebew E
J Am Coll Surg 2014 Feb;218(2):163-9. Epub 2013 Nov 12 doi: 10.1016/j.jamcollsurg.2013.10.025. [Epub ahead of print] PMID: 24440063Free PMC Article
O' Brien FJ, Danapal M, Jairam S, Lalani AK, Cunningham J, Morrin M, McNally S, Donovan MG, Little D, Tuthill A, Conlon PJ
QJM 2014 Apr;107(4):291-6. Epub 2013 Dec 17 doi: 10.1093/qjmed/hct249. [Epub ahead of print] PMID: 24352051
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article

Diagnosis

Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, Pacak K, Kebebew E
J Clin Endocrinol Metab 2015 Dec;100(12):4498-504. Epub 2015 Oct 9 doi: 10.1210/jc.2015-3045. [Epub ahead of print] PMID: 26451910Free PMC Article
Kozaczuk S, Ben-Skowronek I
Ital J Pediatr 2015 Aug 13;41:56. doi: 10.1186/s13052-015-0158-y. [Epub ahead of print] PMID: 26268347Free PMC Article
Fu XM, Zhao SL, Gui JC, Jiang YQ, Shen MN, Su DL, Gu BJ, Wang XQ, Ren QJ, Yin XD, Huang WB, Chen XG
Genet Mol Res 2015 May 4;14(2):4513-20. doi: 10.4238/2015.May.4.9. PMID: 25966224
Dessauvagie BF, Wong G, Robbins PD
J Clin Neurosci 2015 Jan;22(1):215-8. Epub 2014 Jul 23 doi: 10.1016/j.jocn.2014.04.024. [Epub ahead of print] PMID: 25088480
Takahashi T, Nogimura H, Kuriki K, Kobayashi R
World J Surg Oncol 2014 Mar 29;12:74. doi: 10.1186/1477-7819-12-74. [Epub ahead of print] PMID: 24678933Free PMC Article

Therapy

Chen Y, Liu H, Zhang K, Gao L
Photodiagnosis Photodyn Ther 2014 Jun;11(2):250-3. Epub 2014 Mar 13 doi: 10.1016/j.pdpdt.2014.02.013. [Epub ahead of print] PMID: 24632330
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article
Aiello LP, George DJ, Cahill MT, Wong JS, Cavallerano J, Hannah AL, Kaelin WG Jr
Ophthalmology 2002 Sep;109(9):1745-51. PMID: 12208726
Bender BU, Gutsche M, Gläsker S, Müller B, Kirste G, Eng C, Neumann HP
J Clin Endocrinol Metab 2000 Dec;85(12):4568-74. doi: 10.1210/jcem.85.12.7015. PMID: 11134110
Thompson RK, Peters JI, Sirinek KR, Levine BA
Surgery 1989 May;105(5):598-604. PMID: 2650004

Prognosis

Junaid M, Ur Rashid M, Afsheen A, Tahir A, Ahmad M, Kalsoom A
J Ayub Med Coll Abbottabad 2015 Oct-Dec;27(4):930-2. PMID: 27004355
Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N, Pacak K, Kebebew E
J Clin Endocrinol Metab 2015 Dec;100(12):4498-504. Epub 2015 Oct 9 doi: 10.1210/jc.2015-3045. [Epub ahead of print] PMID: 26451910Free PMC Article
Kozaczuk S, Ben-Skowronek I
Ital J Pediatr 2015 Aug 13;41:56. doi: 10.1186/s13052-015-0158-y. [Epub ahead of print] PMID: 26268347Free PMC Article
Dessauvagie BF, Wong G, Robbins PD
J Clin Neurosci 2015 Jan;22(1):215-8. Epub 2014 Jul 23 doi: 10.1016/j.jocn.2014.04.024. [Epub ahead of print] PMID: 25088480
Takahashi T, Nogimura H, Kuriki K, Kobayashi R
World J Surg Oncol 2014 Mar 29;12:74. doi: 10.1186/1477-7819-12-74. [Epub ahead of print] PMID: 24678933Free PMC Article

Clinical prediction guides

Kozaczuk S, Ben-Skowronek I
Ital J Pediatr 2015 Aug 13;41:56. doi: 10.1186/s13052-015-0158-y. [Epub ahead of print] PMID: 26268347Free PMC Article
Qi XP, Liu WT, Li JY, Dai Y, Ma JM, Zhao Y, Fei J, Li F, Shen M, Jin HY, Chen ZG, Du ZF, Chen XL, Zhang XN
Mol Med Rep 2013 Sep;8(3):799-805. Epub 2013 Jul 9 doi: 10.3892/mmr.2013.1578. [Epub ahead of print] PMID: 23842656
Volkin D, Yerram N, Ahmed F, Lankford D, Baccala A, Gupta GN, Hoang A, Nix J, Metwalli AR, Lang DM, Bratslavsky G, Linehan WM, Pinto PA
J Pediatr Surg 2012 Nov;47(11):2077-82. doi: 10.1016/j.jpedsurg.2012.07.003. PMID: 23164001Free PMC Article
Benhammou JN, Boris RS, Pacak K, Pinto PA, Linehan WM, Bratslavsky G
J Urol 2010 Nov;184(5):1855-9. Epub 2010 Sep 17 doi: 10.1016/j.juro.2010.06.102. [Epub ahead of print] PMID: 20846682Free PMC Article
Othmane IS, Shields C, Singh A, Shields J, Goldman W
Am J Ophthalmol 1999 Sep;128(3):387-9. PMID: 10511048

Recent systematic reviews

Sun Hİ, Özduman K, Usseli Mİ, Özgen S, Pamir MN
World Neurosurg 2014 Nov;82(5):836-47. Epub 2014 May 24 doi: 10.1016/j.wneu.2014.05.024. [Epub ahead of print] PMID: 24866229
Megerian CA, Haynes DS, Poe DS, Choo DI, Keriakas TJ, Glasscock ME 3rd
Otol Neurotol 2002 May;23(3):378-87. PMID: 11981399

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