MCID: CMP025
MIFTS: 20

Camptodactyly, Tall Stature, and Hearing Loss Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 610474

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

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
catshl syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

camptodactyly, tall stature, and hearing loss syndrome 43 20 22
catshl syndrome 43 47 49 62
camptodactyly - tall stature - scoliosis - hearing loss 49


External Ids:

OMIM47 610474
ICD10 via Orphanet26 Q87.2

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

About this section

Symptoms for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

Symptoms:

49
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • camptodactyly of fingers
  • tall stature/gigantism/growth acceleration

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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Bone

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

About this section

Publications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

About this section

Variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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:

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet