Moyamoya Disease 1 (MYMY1)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Moyamoya Disease 1

MalaCards integrated aliases for Moyamoya Disease 1:

Name: Moyamoya Disease 1 56 29 6 71
Moyamoya Disease 56 12 74 52 25 53 58 36 29 13 54 6 43 15 71 32
Spontaneous Occlusion of the Circle of Willis 56 52 25
Progressive Intracranial Arterial Occlusion 12 25
Mymy 56 52
Progressive Intracranial Occlusive Arteropathy 25
Cerebrovascular Moyamoya Disease 25
Idiopathic Moyamoya Disease 58
Moyamoya Disease; Mymy 56
Moyamoya Syndrome 52
Moya-Moya Disease 25
Mymy1 56


Orphanet epidemiological data:

moyamoya disease
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Prevalence: 1-9/1000000 (France); Age of onset: All ages;


autosomal recessive


moyamoya disease 1:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:13099
OMIM 56 252350
OMIM Phenotypic Series 56 PS252350
KEGG 36 H01396
ICD9CM 34 437.5
MeSH 43 D009072
NCIt 49 C84895
SNOMED-CT 67 69116000 89142007
ICD10 32 I67.5
MESH via Orphanet 44 C536991 D009072
ICD10 via Orphanet 33 I67.5
UMLS via Orphanet 72 C0026654 C2931384
Orphanet 58 ORPHA2573
MedGen 41 C2931384
UMLS 71 C0026654 C2931384

Summaries for Moyamoya Disease 1

Genetics Home Reference : 25 Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.

MalaCards based summary : Moyamoya Disease 1, also known as moyamoya disease, is related to hemiplegia and vascular disease. An important gene associated with Moyamoya Disease 1 is GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1), and among its related pathways/superpathways is Vascular smooth muscle contraction. The drugs Xylometazoline and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thyroid, and related phenotypes are telangiectasia and intellectual disability

Disease Ontology : 12 A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.

NIH Rare Diseases : 52 Moyamoya disease is a rare, progressive, blood vessel disease caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name "moyamoya" means "puff of smoke" in Japanese and describes the look of the tangled vessels that form to compensate for the blockage. This condition usually affects children, but can affect adults. Affected people are at increased risk for blood clots, strokes , and transient ischemic attacks (TIAs) which are frequently accompanied by seizures and muscular weakness, or paralysis on one side of the body. Affected people may also have disturbed consciousness, speech deficits (usually aphasia), sensory and cognitive impairments, involuntary movements, and vision problems. Researchers believe that Moyamoya disease is an inherited condition because it tends to run in families. Moyamoya syndrome is a related term that refers to cases of moyamoya disease that occur in association with other conditions or risk factors , such as neurofibromatosis , tuberculosis meningitis , sickle cell disease , leptospirosis , brain tumors , Sturge-Weber syndrome , and tuberous sclerosis .

OMIM : 56 Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986). (252350)

NINDS : 53 Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name “moyamoya” means “puff of smoke” in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage.  Moyamoya disease was first described in Japan and is found in individuals around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as “mini-strokes”), frequently accompanied by muscular weakness or paralysis affecting one side of the body. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain.  Other symptoms may include: headaches seizures disturbed consciousness involuntary movements vision problems cognitive and/or sensory impairment. Some individuals with Moyamoya disease have a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities. Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.

KEGG : 36 Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory development of abnormally thin and fragile collateral vessels at the base of the brain.

Wikipedia : 74 Moyamoya disease is a disease in which certain arteries in the brain are constricted. Blood flow is... more...

Related Diseases for Moyamoya Disease 1

Diseases in the Moyamoya Disease 1 family:

Moyamoya Disease 2 Moyamoya Disease 3
Moyamoya Disease 5

Diseases related to Moyamoya Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 562)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 31.5 RNF213 PLG GUCY1A1 ACTA2
2 vascular disease 31.3 SERPINC1 PLG MTHFR MIR125A FGF2 ACTA2
3 branch retinal artery occlusion 30.8 SERPINC1 PLG MTHFR
4 thrombophilia 30.7 SERPINC1 PLG MTHFR
5 retinal artery occlusion 30.7 SERPINC1 PLG MTHFR ACTA2
6 central retinal artery occlusion 30.7 SERPINC1 PLG ACTA2
7 intracranial embolism 30.6 SERPINC1 PLG
8 pulmonary hypertension 30.5 SERPINC1 PLG FGF2 ACTA2