MCID: CMP025
MIFTS: 15

Camptodactyly, Tall Stature, and Hearing Loss Syndrome malady

Bone, Fetal categories

Summaries for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Camptodactyly, Tall Stature, and Hearing Loss Syndrome, also known as catshl syndrome, is related to fg 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).

Description from OMIM:47 610474

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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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 61
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

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Camptodactyly, Tall Stature, and Hearing Loss Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fg syndrome10.1

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

610474

Clinical synopsis from OMIM:

610474

Symptoms:

49 (see all 4)
  • scoliosis
  • hearing loss/hypoacusia/deafness
  • tall stature/gigantism/growth acceleration
  • camptodactyly of fingers

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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

Sources:
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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Camptodactyly, Tall Stature, and Hearing Loss Syndrome:

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

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Camptodactyly, Tall Stature, and Hearing Loss Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet