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Dihydropteridine reductase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Apolipoprotein A-I deficiency

1 OMIM reference -
2 associated genes
10 signs/symptoms

Dihydropteridine reductase deficiency

Apolipoprotein A-I deficiency

QDPR	(UniProt - OMIM)		ABCA1	(UniProt - OMIM)
			APOA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	QDPR	(0.72)	APOA1

Citations in the biomedical literature:

Dihydropteridine reductase deficiency		Apolipoprotein A-I deficiency
	Synonym(s): - Hyperphenylalaninemia due to dihydropteridine reductase deficiency - PKU type 2 - Phenylketonuria type 2		Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537896		External references: 1 OMIM reference - 1 MeSH reference: D052456

Dihydropteridine reductase deficiency		Apolipoprotein A-I deficiency
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Microcephaly		Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anaemia - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatitis / icterus / cholestasis - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Lymphadenopathy / polyadenopathies - Splenomegaly - Storage liver disease