Details of Disease | DrugMAP

General Information of Disease (ID: DISIVE43)

Disease Name	Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Synonyms	camptodactyly, tall stature, and hearing loss syndrome; CATSHLS; CATSHL syndrome
Definition	Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Disease Hierarchy	DISNSX3G: Autosomal genetic disease DIS18AKT: FGFR3-related chondrodysplasia DISIVE43: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Disease Identifiers	MONDO ID MONDO_0012504 MESH ID C537975 UMLS CUI C1864852 OMIM ID 610474 MedGen ID 355844 Orphanet ID 85164 SNOMED CT ID 720601000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Limited	Genetic Variation	[1]
FGFR3	TTST7KB	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	OTSAXDIL	Definitive	Autosomal dominant	[1]
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References

1	A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. Am J Med Genet A. 2016 Jul;170(7):1908-11. doi: 10.1002/ajmg.a.37676. Epub 2016 May 3.