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 51 47 24 53 69 12 67
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 51 47 24 69 26
 
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 53
Catshls 69

Characteristics:

Orphanet epidemiological data:

53
catshl syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
catshl syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 610474
Orphanet53 ORPHA85164
ICD10 via Orphanet30 Q87.2
MedGen36 C1864852

Summaries for Catshl Syndrome

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UniProtKB/Swiss-Prot:69 Camptodactyly, tall stature, and hearing loss syndrome: An 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:51 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

Human phenotypes related to Catshl Syndrome:

 63 53 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature63 hallmark (90%) HP:0000098
2 hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000365
3 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
4 camptodactyly of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0100490
5 high palate63 rare (5%) HP:0000218
6 microcephaly63 HP:0000252
7 sensorineural hearing impairment63 HP:0000407
8 pectus excavatum63 HP:0000767
9 arachnodactyly63 HP:0001166
10 intellectual disability63 HP:0001249
11 global developmental delay63 HP:0001263
12 camptodactyly of toe63 HP:0001836
13 increased vertebral height63 HP:0004570
14 broad femoral metaphyses63 HP:0006417
15 joint contracture of the hand63 HP:0009473
16 osteochondroma63 HP:0030431
17 abnormality of lower limb joint53 Very frequent (99-80%)

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 Syndrome26 24 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome)26

Anatomical Context for Catshl Syndrome

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MalaCards organs/tissues related to Catshl Syndrome:

35
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:

69
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)SNVPathogenicrs587777857GRCh38Chr 4, 1805661: 1805661
2FGFR3NM_000142.4(FGFR3): c.1862G> A (p.Arg621His)SNVPathogenicrs121913113GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet