MCID: CMP025
MIFTS: 20

Camptodactyly, Tall Stature, and Hearing Loss Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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MalaCards based summary: 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:46 610474

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Camptodactyly, Tall Stature, and Hearing Loss Syndrome, Aliases & Descriptions:

Name: Camptodactyly, Tall Stature, and Hearing Loss Syndrome 42 20 22
Catshl Syndrome 42 46 48 62
 
Camptodactyly - Tall Stature - Scoliosis - Hearing Loss 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 610474
ICD10 via Orphanet26 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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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 Camptodactyly, Tall Stature, and Hearing Loss 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 Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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Drug clinical trials:

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

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

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

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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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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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Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108

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

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet