Dihydropyrimidinase deficiency

Preferred Label : Dihydropyrimidinase deficiency;

Symbol : DPYSD;

CISMeF acronym : DPYSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DIHYDROPYRIMIDINURIA; Dpys deficiency; Dph deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dihydropyrimidinase gene (DPYS, 613326.0001);

Laboratory abnormalities : Increased uracil and dihydrouracil in bodily fluids; Increased thymine and dihydrothymine in bodily fluids;

Prefixed ID : #222748;

Details

Origin ID

222748;

UMLS CUI

C0342803;

Automatic exact mappings (from CISMeF team)
- dihydropyrimidine dehydrogenase deficiency [MeSH Descriptor]
Currated CISMeF NLP mapping
- Dihydropyrimidinase deficiency [ICD-11 More detail]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [MeSH concept]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]
- dihydropyrimidinase deficiency [MeSH concept]
- dihydropyrimidinase deficiency [MeSH Supplementary Concept]
DO Cross reference
- dihydropyrimidinase deficiency [DO Concept]
Genes related to phenotype
- Dihydropyrimidinase [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal pyramidal sign [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Excessive daytime somnolence [HPO term]
- Extrapyramidal dyskinesia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Growth delay [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Plagiocephaly [HPO term]
- Reduced dihydropyrimidine dehydrogenase level [HPO term]
- Seizure [HPO term]
- Short phalanx of finger [HPO term]
- Speech delay [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Dihydropyrimidinuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dihydropyrimidinase deficiency [ICD-11 More detail]
- Dihydropyrimidinase deficiency (disorder) [SNOMED CT concept]
- Dihydropyrimidinuria [ORDO Disease]
- dihydropyrimidinase deficiency [MeSH Supplementary Concept]
- dihydropyrimidinase deficiency [MeSH concept]
- dihydropyrimidinase deficiency [Disease (Nov.)]
- dihydropyrimidinase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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