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Dyschromatosis symmetrica hereditaria

1 OMIM reference -
1 associated gene
5 signs/symptoms

COMMON GENES: 1

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

Dyschromatosis symmetrica hereditaria

Aicardi-GoutiÃ¨res syndrome

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


COMMON GENES	ADAR

Citations in the biomedical literature:

Dyschromatosis symmetrica hereditaria		Aicardi-GoutiÃ¨res syndrome
	Synonym(s): - Acropigmentation of Dohi		Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

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

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535729		External references: 7 OMIM references - 1 MeSH reference: C535607

Dyschromatosis symmetrica hereditaria		Aicardi-GoutiÃ¨res syndrome
	Very frequent - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Macules Frequent - Autosomal recessive inheritance - Dystonia / torticollis / writer's cramp / blepharospasms		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