MCID: CTS022
MIFTS: 21

Catshl Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Catshl Syndrome

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Aliases & Descriptions for Catshl Syndrome:

Name: Catshl Syndrome 49 11 45 22 67 65
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 45 22
 
Camptodactyly Tall Stature and Hearing Loss Syndrome 67 24

Characteristics:

HPO:

61
catshl syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 610474
MedGen34 C1864852
UMLS65 C1864852

Summaries for Catshl Syndrome

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UniProtKB/Swiss-Prot:67 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, also known as camptodactyly, tall stature, and hearing loss syndrome, is related to camptodactyly-tall stature-scoliosis-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 brain and testes.

Description from OMIM:49 610474

Related Diseases for Catshl Syndrome

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Diseases related to Catshl Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1camptodactyly-tall stature-scoliosis-hearing loss syndrome11.5

Symptoms for Catshl Syndrome

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Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

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 Syndrome22 FGFR3

Anatomical Context for Catshl Syndrome

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MalaCards organs/tissues related to Catshl Syndrome:

33
Brain, Testes

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
Histone crosstalk directed by H2B ubiquitination is required for chromatin boundary integrity. (21811414)
2011

Variations for Catshl Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg621HisVAR_029108

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet