Details of Disease | DrugMAP

General Information of Disease (ID: DISBN663)

Disease Name	Temtamy preaxial brachydactyly syndrome
Synonyms	preaxial brachydactyly syndrome, Temtamy type; mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies; TEMTAMY preaxial brachydactyly syndrome; TPBS; intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies; temtamy preaxial brachydactyly syndrome; preaxial brachydactyly syndrome, TEMTAMY type
Definition	An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS3LICD: Congenital limb malformation DISMFQKM: Developmental anomaly of metabolic origin DIS5PU87: Skeletal system disorder DIS400QP: Congenital disorder of glycosylation DISBN663: Temtamy preaxial brachydactyly syndrome
Disease Identifiers	MONDO ID MONDO_0011533 MESH ID C536958 UMLS CUI C1854466 OMIM ID 605282 MedGen ID 381425 Orphanet ID 363417 SNOMED CT ID 777998000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TGDS	OTEOFLOS	Strong	Genetic Variation	[1]
CHSY1	OTB1XSSF	Definitive	Autosomal recessive	[2]
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References

1	Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.Am J Med Genet A. 2017 Jun;173(6):1694-1697. doi: 10.1002/ajmg.a.38209. Epub 2017 Apr 19.
2	A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. Clin Dysmorphol. 1998 Oct;7(4):249-55. doi: 10.1097/00019605-199810000-00003.