ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Adenine phosphoribosyltransferase deficiency

Hereditary orotic aciduria


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.49)	UMPS

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Hereditary orotic aciduria
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		Synonym(s): - Oroticaciduria - Orotidylic decarboxylase deficiency - Uridine monophosphate synthetase deficiency

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537136


COMMON SIGNS	- Autosomal recessive inheritance

Adenine phosphoribosyltransferase deficiency		Hereditary orotic aciduria
	Very frequent - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hematuria / microhematuria - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections - Renal failure		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Anaemia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Abnormal toenails - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Low set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Patent ductus arteriosus - Repeat respiratory infections - Splenomegaly - Storage liver disease