MCID: CTS022
MIFTS: 23

Catshl Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Catshl Syndrome

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Aliases & Descriptions for Catshl Syndrome:

Name: Catshl Syndrome 50 46 23 52 68 12 66
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 50 46 23
 
Camptodactyly Tall Stature and Hearing Loss Syndrome 68 25
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
catshl syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
catshl syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 610474
Orphanet52 ORPHA85164
ICD10 via Orphanet29 Q87.2
MedGen35 C1864852

Summaries for Catshl Syndrome

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UniProtKB/Swiss-Prot:68 Camptodactyly tall stature and hearing loss syndrome: Autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or mental retardation, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal.

MalaCards based summary: Catshl Syndrome, is also known as camptodactyly, tall stature, and hearing loss syndrome, and has symptoms including tall stature, hearing impairment and scoliosis. An important gene associated with Catshl Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include testes, brain and bone.

Description from OMIM:50 610474

Related Diseases for Catshl Syndrome

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Symptoms for Catshl Syndrome

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Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

Symptoms:

 52
  • hearing impairment
  • scoliosis
  • camptodactyly of finger
  • abnormality of lower limb joint

HPO human phenotypes related to Catshl Syndrome:

(show all 18)
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 high palate rare (5%) HP:0000218
6 tall stature HP:0000098
7 microcephaly HP:0000252
8 sensorineural hearing impairment HP:0000407
9 pectus excavatum HP:0000767
10 arachnodactyly HP:0001166
11 intellectual disability HP:0001249
12 global developmental delay HP:0001263
13 camptodactyly of toe HP:0001836
14 scoliosis HP:0002650
15 increased vertebral height HP:0004570
16 broad femoral metaphyses HP:0006417
17 joint contracture of the hand HP:0009473
18 osteochondroma HP:0030431

Drugs & Therapeutics for Catshl Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Catshl Syndrome

Genetic Tests for Catshl Syndrome

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Genetic tests related to Catshl Syndrome:

id Genetic test Affiliating Genes
1 Camptodactyly, Tall Stature, and Hearing Loss Syndrome25 23 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome)25

Anatomical Context for Catshl Syndrome

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MalaCards organs/tissues related to Catshl Syndrome:

34
Testes, Brain, Bone

Animal Models for Catshl Syndrome or affiliated genes

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Publications for Catshl Syndrome

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Articles related to Catshl Syndrome:

idTitleAuthorsYear
1
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. (17033969)
2006

Variations for Catshl Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Catshl Syndrome:

68
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108rs121913113

Clinvar genetic disease variations for Catshl Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1637C> A (p.Thr546Lys)single nucleotide variantPathogenicrs587777857GRCh38Chr 4, 1805661: 1805661
2FGFR3NM_000142.4(FGFR3): c.1862G> A (p.Arg621His)single nucleotide variantPathogenicrs121913113GRCh37Chr 4, 1807803: 1807803

Expression for genes affiliated with Catshl Syndrome

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Search GEO for disease gene expression data for Catshl Syndrome.

Pathways for genes affiliated with Catshl Syndrome

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GO Terms for genes affiliated with Catshl Syndrome

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Sources for Catshl Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet