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Congenital myopathy, Paradas type

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

Congenital myopathy, Paradas type

Aicardi-GoutiÃ¨res syndrome

DYSF	(UniProt - OMIM)		ADAR	(UniProt - OMIM)
			RNASEH2A	(UniProt - OMIM)
			RNASEH2B	(UniProt - OMIM)
			RNASEH2C	(UniProt - OMIM)
			SAMHD1	(UniProt - OMIM)
			TREX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	SAMHD1

Citations in the biomedical literature:

Congenital myopathy, Paradas type		Aicardi-GoutiÃ¨res syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C535607

Aicardi-GoutiÃ¨res syndrome
	Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Microcephaly - Plagiocephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus
Congenital myopathy, Paradas type
(no data available)