Details of Disease | DrugMAP

General Information of Disease (ID: DISDJL64)

Disease Name	Transketolase deficiency
Synonyms	SDDHD; short stature, developmental delay, and congenital heart defects; short stature-developmental delay-congenital heart defect syndrome; TKT deficiency
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISR5M3F: Inborn disorder of pentose phosphate metabolism DISMFQKM: Developmental anomaly of metabolic origin DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISDJL64: Transketolase deficiency
Disease Identifiers	MONDO ID MONDO_0014881 UMLS CUI C5700245 OMIM ID 617044 MedGen ID 1814561 Orphanet ID 488618 SNOMED CT ID 1237512003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TKT	TT04R7I	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TKT	OTT5KPUB	Strong	Autosomal recessive	[1]
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References

1	Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030.