ODCs

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4 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Moyamoya disease

Hereditary sensory and autonomic neuropathy with spastic paraplegia

ACTA2	(UniProt - OMIM)		CCT5	(UniProt - OMIM)
RNF213	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACTA2	(0.88)	CCT5

Citations in the biomedical literature:

Moyamoya disease		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Synonym(s): (no synonyms)		Synonym(s): - HSAN with spastic paraplegia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - 2 MeSH references: C536991 / D009072		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Moyamoya disease		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Very frequent - 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		Very frequent - Abnormal gait - Auto-aggressivity / auto-mutilation - Chronic skin infection / ulcerations / ulcers / cancrum - Dysautonomia / autonomous nervous sytem anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Insensitivity to pain - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Peripheral neuropathy Frequent - Nerve conduction abnormality Occasional - Osteomyelitis / osteitis / periostitis / spondylodisciitis