Short stature, developmental delay, and congenital heart defects

Preferred Label : Short stature, developmental delay, and congenital heart defects;

Symbol : SDDHD;

CISMeF acronym : SDDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Transketolase deficiency; Tkt deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transketolase gene (TKT, 606781.0001);

Prefixed ID : #617044;

Details

Origin ID

617044;

UMLS CUI

C5700245;

Automatic exact mappings (from CISMeF team)
- Deficiency of transketolase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Short stature, developmental delay, congenital heart defect syndrome (disorder) [SNOMED CT concept]
- Transketolase deficiency [ORDO Disease]
Genes related to phenotype
- Transketolase [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Intellectual disability [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Proportionate short stature [HPO term]
- Self-injurious behavior [HPO term]
- Uveitis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Transketolase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of transketolase (disorder) [SNOMED CT concept]
- Short stature, developmental delay, congenital heart defect syndrome (disorder) [SNOMED CT concept]

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