Pentosuria - CISMeF

Preferred Label : Pentosuria;

Symbol : PNTSU;

CISMeF acronym : PNTSU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : L-xylulose reductase deficiency; L-XYLULOSURIA; Xylitol dehydrogenase deficiency;

Description : Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in Jews (summary by Hiatt, 2001). L-xylulose reductase is encoded by the DCXR gene (608347) on chromosome 17.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dicarbonyl/L-xylulose reductase gene (DCXR, 608347.0001);

Laboratory abnormalities : Increased urinary excretion of L-xylulose;

Prefixed ID : #260800;

Details

Origin ID

260800;

UMLS CUI

C0268162;

Automatic exact mappings (from CISMeF team)
- Essential benign pentosuria (disorder) [Inactive SNOMED CT concept]
- Essential pentosuria (disorder) [SNOMED CT concept]
- pentosuria [DO Concept]
Currated CISMeF NLP mapping
- Pentosuria [MedDRA Preferred Term]
- Pentosuria [MeSH concept]
- Pentosuria [ORDO Disease]
- essential benign pentosuria [SNOMED Notion]
- pentosuria [MeSH Supplementary Concept]
DO Cross reference
- pentosuria [DO Concept]
Genes related to phenotype
- Dicarbonyl/L-xylulose reductase [OMIM gene]
HPO term(s)
- Abnormality of urine homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Pentosuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Essential pentosuria [ICD-11 More detail]
- Essential pentosuria (disorder) [SNOMED CT concept]
- Pentosuria [MedDRA Preferred Term]
- Pentosuria [ORDO Disease]
- Pentosuria [MeSH concept]
- essential benign pentosuria [SNOMED Notion]
- pentosuria [MeSH Supplementary Concept]
- pentosuria [DO Concept]
Validated automatic mappings to BTNT
- Essential pentosuria [ICD-11 More detail]

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