MCID: CMP025
MIFTS: 20

Camptodactyly, Tall Stature, and Hearing Loss Syndrome malady

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

Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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48OMIM, 34MalaCards
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MalaCards: Camptodactyly, Tall Stature, and Hearing Loss Syndrome, is also known as catshl syndrome, and has symptoms including hearing loss/hypoacusia/deafness, scoliosis and camptodactyly of fingers. 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:48 610474

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

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
catshl syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

camptodactyly, tall stature, and hearing loss syndrome 44 21 23
catshl syndrome 44 48 50 63
camptodactyly - tall stature - scoliosis - hearing loss 50


External Ids:

OMIM48 610474
ICD10 via Orphanet27 Q87.2

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

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Symptoms for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

Symptoms:

50
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • camptodactyly of fingers
  • tall stature/gigantism/growth acceleration

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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21GeneTests, 23GTR
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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 Syndrome21 23 FGFR3

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

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34MalaCards
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MalaCards organs/tissues related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

34
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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Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

65
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108

Clinvar genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

1
id Gene Name 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 Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet