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 52 48 24 54 70 12 68
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 52 48 24 70 27
 
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 54
Catshls 70

Characteristics:

Orphanet epidemiological data:

54
catshl syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
catshl syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 610474
Orphanet54 ORPHA85164
ICD10 via Orphanet31 Q87.2
MedGen37 C1864852

Summaries for Catshl Syndrome

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UniProtKB/Swiss-Prot:70 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:52 610474

Related Diseases for Catshl Syndrome

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Symptoms & Phenotypes 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:

 64 54 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tall stature64 hallmark (90%) HP:0000098
2 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
3 scoliosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002650
4 camptodactyly of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0100490
5 high palate64 rare (5%) HP:0000218
6 microcephaly64 HP:0000252
7 sensorineural hearing impairment64 HP:0000407
8 pectus excavatum64 HP:0000767
9 arachnodactyly64 HP:0001166
10 intellectual disability64 HP:0001249
11 global developmental delay64 HP:0001263
12 camptodactyly of toe64 HP:0001836
13 increased vertebral height64 HP:0004570
14 broad femoral metaphyses64 HP:0006417
15 joint contracture of the hand64 HP:0009473
16 osteochondroma64 HP:0030431
17 abnormality of lower limb joint54 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 Syndrome27 24 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome)27

Anatomical Context for Catshl Syndrome

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MalaCards organs/tissues related to Catshl Syndrome:

36
Testes, Brain, Bone

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet