ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Dihydropteridine reductase deficiency

Familial renal amyloidosis due to Apolipoprotein AI variant


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

Citations in the biomedical literature:

Dihydropteridine reductase deficiency		Familial renal amyloidosis due to Apolipoprotein AI variant
	Synonym(s): - Hyperphenylalaninemia due to dihydropteridine reductase deficiency - PKU type 2 - Phenylketonuria type 2		Synonym(s): - Apolipoprotein AI amyloidosis - Familial amyloid nephropathy due to apolipoprotein AI variant - Hereditary amyloid nephropathy due to apolipoprotein AI variant - Hereditary renal amyloidosis due to apolipoprotein AI variant

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare renal 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: (no data available)

	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
Familial renal amyloidosis due to Apolipoprotein AI variant
(no data available)