Format
Items per page

Send to:

Choose Destination

Medical genetics for BioSystems (Select 137979)

Items: 1 to 20 of 33

1.

Congenital heart defects, multiple types, 4

MedGen UID:
777001
Concept ID:
CN187046
Disease or Syndrome
2.

Hypobetalipoproteinemia, familial, 1

Hypobetalipoproteinemia (FBHL) and abetalipoproteinemia (ABL; 200100) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance, whereas obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance (summary by Lee and Hegele, 2014). Genetic Heterogeneity of Familial Hypobetalipoproteinemia Familial hypobetalipoproteinemia-2 (FHBL2; 605019) is caused by mutation in the ANGPTL3 gene (604774) on chromosome 1p31. [from OMIM]

MedGen UID:
775747
Concept ID:
CN182502
Disease or Syndrome
3.

Pancreatic cancer 4

MedGen UID:
482072
Concept ID:
C3280442
Neoplastic Process
4.

Rubinstein-Taybi syndrome 2

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal; however, height, weight, and head circumference percentiles rapidly drop in the first few months of life. Obesity may occur in childhood or adolescence. IQ scores range from 25 to 79; average IQ is between 36 and 51. Other variable findings are coloboma, cataract, congenital heart defects, renal abnormalities, and cryptorchidism. [from GeneReviews]

MedGen UID:
462291
Concept ID:
C3150941
Disease or Syndrome
5.

Maturity-onset diabetes of the young, type 10

MedGen UID:
461967
Concept ID:
C3150617
Disease or Syndrome
6.

Major affective disorder 7

MedGen UID:
438008
Concept ID:
C2700438
Mental or Behavioral Dysfunction
7.

Amyotrophic lateral sclerosis type 1

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. [from GeneReviews]

MedGen UID:
400169
Concept ID:
C1862939
Disease or Syndrome
8.

Hypospadias 1, X-linked

Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000). Genetic Heterogeneity of Hypospadias See also HYSP2 (300758), caused by mutation in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837). [from OMIM]

MedGen UID:
394735
Concept ID:
C2678098
Disease or Syndrome
9.

Breast-ovarian cancer, familial 1

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
382914
Concept ID:
C2676676
Finding
10.

Diabetes mellitus, insulin-dependent, 2

Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death. Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.
[from GHR]

MedGen UID:
377588
Concept ID:
C1852092
Disease or Syndrome
11.

Multiple endocrine neoplasia, type 4

Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands (the endocrine system). Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening. The major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family. Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.
[from GHR]

MedGen UID:
373469
Concept ID:
C1970712
Disease or Syndrome; Neoplastic Process
12.

Permanent neonatal diabetes mellitus

Nonsyndromic permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks) that does not resolve over time. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and allows for catch-up growth. The course of PNDM varies by genotype. Pancreatic agenesis/hypoplasia caused by homozygous mutations in PDX1 results in severe insulin deficiency and exocrine pancreatic insufficiency. [from GeneReviews]

MedGen UID:
371484
Concept ID:
C1833104
Disease or Syndrome
13.

Microphthalmia, isolated, with coloboma 5

MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
14.

Estrogen resistance

MedGen UID:
338701
Concept ID:
C1851467
Disease or Syndrome
15.

Knobloch syndrome 1

Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). [from OMIM]

MedGen UID:
336594
Concept ID:
C1849409
Congenital Abnormality; Disease or Syndrome
16.

Bulbo-spinal atrophy X-linked

Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity. [from GeneReviews]

MedGen UID:
333282
Concept ID:
C1839259
Disease or Syndrome
17.

Holoprosencephaly 3

Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE. [from GeneReviews]

MedGen UID:
327125
Concept ID:
C1840529
Disease or Syndrome
18.

Single upper central incisor

MedGen UID:
326686
Concept ID:
C1840235
Disease or Syndrome
19.

Myocardial infarction 1

MedGen UID:
325315
Concept ID:
C1838021
Disease or Syndrome; Finding
20.

Idiopathic fibrosing alveolitis, chronic form

Familial pulmonary fibrosis (FPF in this GeneReview) is defined as idiopathic interstitial pneumonia (IIP) in two or more first-degree relatives (parent, sib, or offspring). Up to 20% of cases of IIP cluster in families. The clinical findings of IIP are bibasilar reticular abnormalities, ground glass opacities, or diffuse nodular lesions on high-resolution computed tomography and abnormal pulmonary function studies that include evidence of restriction (reduced VC with an increase in FEV1/FVC ratio) and/or impaired gas exchange (increased P(A-a)O2 with rest or exercise or decreased diffusion capacity of the lung for carbon monoxide [DLCO]). FPF usually presents between ages 50 and 70 years. FPF may be complicated by lung cancer; bronchoalveolar cell carcinoma, small-cell carcinoma, and adenocarcinoma have been described. [from GeneReviews]

MedGen UID:
321462
Concept ID:
C1800706
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...