ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Glutathione synthetase deficiency without 5-oxoprolinuria

Mevalonic aciduria


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GSS	(0.63)	MVK

Citations in the biomedical literature:

Glutathione synthetase deficiency without 5-oxoprolinuria		Mevalonic aciduria
	Synonym(s): (no synonyms)		Synonym(s): - Complete mevalonate kinase deficiency - MVA

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054078

Mevalonic aciduria
	Very frequent - Autosomal recessive inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delayed bone age - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Microcephaly - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Splenomegaly - Triangular face Frequent - Ataxia / incoordination / trouble of the equilibrium - Blue sclerae - Cataract / lens opacification - Low set ears / posteriorly rotated ears
Glutathione synthetase deficiency without 5-oxoprolinuria
(no data available)