ODCs

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7 OMIM references -
6 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Aicardi-GoutiÃ¨res syndrome

Severe combined immunodeficiency due to DNA-PKcs deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TREX1	(0.52)	PRKDC

Citations in the biomedical literature:

Aicardi-GoutiÃ¨res syndrome		Severe combined immunodeficiency due to DNA-PKcs deficiency
	Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid		Synonym(s): - SCID due to DNA-PKcs deficiency

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

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

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
Severe combined immunodeficiency due to DNA-PKcs deficiency
(no data available)