Format

Send to:

Choose Destination

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps(HANAC)

MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
Synonyms: COL4A1-Related Disorders; HANAC
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (702428000); Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures (702428000); HANAC - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (702428000); HANAC syndrome (702428000)
 
Gene (location): COL4A1 (13q34)
OMIM®: 611773
Orphanet: ORPHA73229

Disease characteristics

Excerpted from the GeneReview: COL4A1-Related Disorders
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract. [from GeneReviews]
Authors:
Emmanuelle Plaisier  |  Pierre Ronco   view full author information

Additional description

From GHR
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage.People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts may grow larger over time.Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these aneurysms typically do not burst. About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).Muscle cramps experienced by most people with HANAC syndrome typically begin in early childhood. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Muscle cramps can be spontaneous or triggered by exercise.Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye.Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. As a result, the skin around the affected area may turn white or blue for a brief period of time and the area may tingle or throb. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage.  https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome

Clinical features

Stroke
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.
Cerebral arterial aneurysm
MedGen UID:
220937
Concept ID:
C1290398
Disease or Syndrome
A balloon type pouch or bulge in the wall of a cerebral artery.
Retinal arteriolar tortuosity
MedGen UID:
334424
Concept ID:
C1843517
Finding
The presence of an increased number of twists and turns of the retinal arterioles.
Stroke
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.
Leukoencephalopathy
MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
Any of various diseases affecting the white matter of the central nervous system.
Cerebral arterial aneurysm
MedGen UID:
220937
Concept ID:
C1290398
Disease or Syndrome
A balloon type pouch or bulge in the wall of a cerebral artery.
Muscle cramps
MedGen UID:
7749
Concept ID:
C0026821
Sign or Symptom
Muscle cramps are sudden, involuntary contractions or spasms in one or more of your muscles. They often occur after exercise or at night, lasting a few seconds to several minutes. It is a very common muscle problem. . Muscle cramps can be caused by nerves that malfunction. Sometimes this malfunction is due to a health problem, such as a spinal cord injury or a pinched nerve in the neck or back. Other causes are. -Straining or overusing a muscle. -Dehydration. -A lack of minerals in your diet or the depletion of minerals in your body. -Not enough blood getting to your muscles. Cramps can be very painful. Stretching or gently massaging the muscle can relieve this pain. .

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Follow this link to review classifications for Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps in Orphanet.

Professional guidelines

PubMed

Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S, Creager MA, Eckel RH, Elkind MS, Fornage M, Goldstein LB, Greenberg SM, Horvath SE, Iadecola C, Jauch EC, Moore WS, Wilson JA; American Heart Association Stroke Council.; Council on Cardiovascular and Stroke Nursing.; Council on Clinical Cardiology.; Council on Functional Genomics and Translational Biology.; Council on Hypertension.
Stroke 2014 Dec;45(12):3754-832. Epub 2014 Oct 28 doi: 10.1161/STR.0000000000000046. PMID: 25355838Free PMC Article

Recent clinical studies

Clinical prediction guides

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K
Am J Med Genet A 2015 Jan;167A(1):156-8. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36823. PMID: 25425218

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center