MCID: CMP025
MIFTS: 20

Camptodactyly, Tall Stature, and Hearing Loss Syndrome malady

Bone diseases, Fetal diseases categories

Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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46OMIM, 32MalaCards
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MalaCards: Camptodactyly, Tall Stature, and Hearing Loss Syndrome, is also known as catshl syndrome, and has symptoms including scoliosis, hearing loss/hypoacusia/deafness and tall stature/gigantism/growth acceleration. An important gene associated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome is FGFR3 (fibroblast growth factor receptor 3). Affiliated tissues include bone.

Description from OMIM:46 610474

Aliases & Classifications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

camptodactyly, tall stature, and hearing loss syndrome 42 20 22
catshl syndrome 42 46 48 60
camptodactyly - tall stature - scoliosis - hearing loss 48


External Ids:

OMIM46 610474
ICD10 via Orphanet26 Q87.2

Related Diseases for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Clinical Features for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

610474

Clinical synopsis from OMIM:

610474

Symptoms:

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

Drugs & Therapeutics for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Search CenterWatch for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Genetic Tests for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

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

Anatomical Context for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

32
Bone

Animal Models for Camptodactyly, Tall Stature, and Hearing Loss Syndrome or affiliated genes

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Publications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Genetic Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108

Expression for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Search GEO for disease gene expression data for Camptodactyly, Tall Stature, and Hearing Loss Syndrome.

Pathways for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Compounds for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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GO Terms for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Products for genes affiliated with Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet