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Moyamoya disease

4 OMIM references -
2 associated genes
50 connected diseases
6 signs/symptoms

Disease	Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Gliosarcoma
Young adult-onset Parkinsonism
Left ventricular noncompaction
Hereditary sensory and autonomic neuropathy with spastic paraplegia
46,XY complete gonadal dysgenesis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Chronic granulomatous disease
Congenital glaucoma
Essential thrombocythemia
Familial pancreatic carcinoma
Generalized epilepsy - paroxysmal dyskinesia
Isolated focal cortical dysplasia type IIb
Juvenile glaucoma
Li-Fraumeni syndrome
Lymphangioleiomyomatosis
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Spinocerebellar ataxia type 36
Tuberous sclerosis
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Atrial septal defect, ostium secundum type
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial aortic dissection
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Romano-Ward syndrome
17p13.3 microduplication syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Blackfan-Diamond anemia
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome

Synonym(s): (no synonyms)

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the circulatory system -

Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		External references: 4 OMIM references - 2 MeSH references: C536991 / D009072

Gene symbol	UniProt reference	OMIM reference
ACTA2	P62736	102620
RNF213	Q63HN8	613768

Very frequent

- Autosomal recessive inheritance
- Vascular anomalies of skin / mucosae

Frequent

- Cerebral vascular anomalies
- Dilated cerebral ventricles without hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus