MCID: CTS022
MIFTS: 20

Catshl Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Catshl Syndrome

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Catshl Syndrome:

Name: Catshl Syndrome 46 9 42 48 61
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 46 42 20 22
 
Camptodactyly - Tall Stature - Scoliosis - Hearing Loss 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
catshl syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM46 610474
Orphanet48 85164
ICD10 via Orphanet26 Q87.2

Summaries for Catshl Syndrome

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MalaCards based summary: Catshl Syndrome, is also known as camptodactyly, tall stature, and hearing loss syndrome, and has symptoms including tall stature, hearing impairment and scoliosis. An important gene associated with Catshl Syndrome is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include bone.

Description from OMIM:46 610474

Related Diseases for Catshl Syndrome

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Symptoms for Catshl Syndrome

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Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

Symptoms:

 48
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • camptodactyly of fingers
  • tall stature/gigantism/growth acceleration

HPO human phenotypes related to Catshl Syndrome:

(show all 16)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 hearing impairment hallmark (90%) HP:0000365
3 scoliosis hallmark (90%) HP:0002650
4 camptodactyly of finger hallmark (90%) HP:0100490
5 autosomal dominant inheritance HP:0000006
6 tall stature HP:0000098
7 microcephaly HP:0000252
8 sensorineural hearing impairment HP:0000407
9 pectus excavatum HP:0000767
10 intellectual disability HP:0001249
11 global developmental delay HP:0001263
12 camptodactyly of toe HP:0001836
13 scoliosis HP:0002650
14 increased vertebral height HP:0004570
15 broad femoral metaphyses HP:0006417
16 joint contracture of the hand HP:0009473

Drugs & Therapeutics for Catshl Syndrome

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Drug clinical trials:

Search ClinicalTrials for Catshl Syndrome

Search NIH Clinical Center for Catshl Syndrome

Genetic Tests for Catshl Syndrome

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Genetic tests related to Catshl Syndrome:

id Genetic test Affiliating Genes
1 Camptodactyly, Tall Stature, and Hearing Loss Syndrome20 22 FGFR3

Anatomical Context for Catshl Syndrome

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MalaCards organs/tissues related to Catshl Syndrome:

31
Bone

Animal Models for Catshl Syndrome or affiliated genes

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Publications for Catshl Syndrome

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Articles related to Catshl Syndrome:

idTitleAuthorsYear
1
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. (17033969)
2006

Variations for Catshl Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Catshl Syndrome:

63
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108

Clinvar genetic disease variations for Catshl Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1862G> A (p.Arg621His)single nucleotide variantPathogenicrs121913113GRCh37Chr 4, 1807803: 1807803

Expression for genes affiliated with Catshl Syndrome

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Search GEO for disease gene expression data for Catshl Syndrome.

Pathways for genes affiliated with Catshl Syndrome

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Compounds for genes affiliated with Catshl Syndrome

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GO Terms for genes affiliated with Catshl Syndrome

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Sources for Catshl Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet