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Dihydropteridine reductase deficiency

1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

Mild hyperphenylalaninemia

1 associated gene
No signs/symptoms info

Dihydropteridine reductase deficiency

Mild hyperphenylalaninemia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	QDPR	(0.63)	PAH

Citations in the biomedical literature:

Dihydropteridine reductase deficiency		Mild hyperphenylalaninemia
	Synonym(s): - Hyperphenylalaninemia due to dihydropteridine reductase deficiency - PKU type 2 - Phenylketonuria type 2		Synonym(s): - Mild HPA - Non-PKU HPA - mHPA

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537896		External references: No OMIM references No MeSH references

Dihydropteridine reductase deficiency
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Microcephaly
Mild hyperphenylalaninemia
(no data available)