MCID: CMP067
MIFTS: 13

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Categories: Genetic diseases

Aliases & Classifications for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

MalaCards integrated aliases for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

Name: Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 12 15
Catshl Syndrome 12 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0111160
MeSH 45 C537975
UMLS 74 C1864852

Summaries for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Disease Ontology : 12 An autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16.

MalaCards based summary : Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, also known as catshl syndrome, is related to camptodactyly, tall stature, and hearing loss syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Related phenotypes are scoliosis and hearing impairment

Related Diseases for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Diseases related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 camptodactyly, tall stature, and hearing loss syndrome 11.8
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1

Symptoms & Phenotypes for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Human phenotypes related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 hallmark (90%) HP:0002650
2 hearing impairment 33 hallmark (90%) HP:0000365
3 camptodactyly of finger 33 hallmark (90%) HP:0100490
4 abnormality of lower limb joint 33 hallmark (90%) HP:0100491

Drugs & Therapeutics for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Search Clinical Trials , NIH Clinical Center for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Cochrane evidence based reviews: catshl syndrome

Genetic Tests for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Anatomical Context for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Publications for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Articles related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

# Title Authors Year
1
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. ( 27139183 )
2016
2
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. ( 17033969 )
2006

Variations for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Expression for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Search GEO for disease gene expression data for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome.

Pathways for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

GO Terms for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Sources for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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