Adenine phosphoribosyltransferase deficiency

Preferred Label : Adenine phosphoribosyltransferase deficiency;

Symbol : APRTD;

CISMeF acronym : APRTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aprt deficiency; Nephrolithiasis, dha; Urolithiasis, 2,8-dihydroxyadenine; Urolithiasis, dha;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenine phosphoribosyltransferase gene (APRT, 102600.0001);

Laboratory abnormalities : APRT deficiency measured in erythrocyte lysate; Round, yellow-brown DHA urine crystals; 2,8-dihydroxyadenine (DHA) urinary stones;

Prefixed ID : #614723;

Details

Origin ID

614723;

UMLS CUI

C0268120;

Automatic exact mappings (from CISMeF team)
- 2,8-Dihydroxyadenine urolithiasis [MeSH concept]
Currated CISMeF NLP mapping
- Adenine Phosphoribosyltransferase Deficiency [NCIt concept]
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [ICD-11 More detail]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Deficiency of adenine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- adenine phosphoribosyl transferase deficiency [Disease (Nov.)]
- adenine phosphoribosyltransferase deficiency [DO Concept]
- adenine phosphoribosyltransferase deficiency [MeSH Supplementary Concept]
- adenine phosphoribosyltransferase deficiency [SNOMED Notion]
DO Cross reference
- adenine phosphoribosyltransferase deficiency [DO Concept]
Genes related to phenotype
- Adenine phosphoribosyltransferase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Hematuria [HPO term]
- Juvenile onset [HPO term]
- Metabolic acidosis [HPO term]
- Nephrolithiasis [HPO term]
- Oliguria [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenine Phosphoribosyltransferase Deficiency [NCIt concept]
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency [ICD-11 More detail]
- Deficiency of adenine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- adenine phosphoribosyl transferase deficiency [Disease (Nov.)]
- adenine phosphoribosyltransferase deficiency [MeSH Supplementary Concept]
- adenine phosphoribosyltransferase deficiency [DO Concept]

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