CATSHLS
MCID: CTS022
MIFTS: 23

Catshl Syndrome (CATSHLS) malady

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

Aliases & Classifications for Catshl Syndrome

Aliases & Descriptions for Catshl Syndrome:

Name: Catshl Syndrome 54 50 24 56 66 13 69
Camptodactyly, Tall Stature, and Hearing Loss Syndrome 54 50 24 66 29
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 56
Catshls 66

Characteristics:

Orphanet epidemiological data:

56
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;


Classifications:



External Ids:

OMIM 54 610474
Orphanet 56 ORPHA85164
ICD10 via Orphanet 34 Q87.2
MedGen 40 C1864852

Summaries for Catshl Syndrome

UniProtKB/Swiss-Prot : 66 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 scoliosis, hearing impairment and camptodactyly of finger. An important gene associated with Catshl Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Affiliated tissues include testes, brain and bone.

Description from OMIM: 610474

Related Diseases for Catshl Syndrome

Symptoms & Phenotypes for Catshl Syndrome

Symptoms by clinical synopsis from OMIM:

610474

Clinical features from OMIM:

610474

Human phenotypes related to Catshl Syndrome:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 Very frequent (99-80%) HP:0002650
2 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
3 camptodactyly of finger 56 32 Very frequent (99-80%) HP:0100490
4 abnormality of lower limb joint 56 32 Very frequent (99-80%) HP:0100491
5 pectus excavatum 32 HP:0000767
6 high palate 32 HP:0000218
7 intellectual disability 32 HP:0001249
8 global developmental delay 32 HP:0001263
9 microcephaly 32 HP:0000252
10 sensorineural hearing impairment 32 HP:0000407
11 arachnodactyly 32 HP:0001166
12 tall stature 32 HP:0000098
13 camptodactyly of toe 32 HP:0001836
14 joint contracture of the hand 32 HP:0009473
15 increased vertebral height 32 HP:0004570
16 osteochondroma 32 HP:0030431
17 broad femoral metaphyses 32 HP:0006417

Drugs & Therapeutics for Catshl Syndrome

Search Clinical Trials , NIH Clinical Center for Catshl Syndrome

Genetic Tests for Catshl Syndrome

Genetic tests related to Catshl Syndrome:

id Genetic test Affiliating Genes
1 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 29 24 FGFR3
2 Camptodactyly, Tall Stature, and Hearing Loss Syndrome (catshl Syndrome) 29

Anatomical Context for Catshl Syndrome

MalaCards organs/tissues related to Catshl Syndrome:

39
Testes, Brain, Bone

Publications for Catshl Syndrome

Articles related to Catshl Syndrome:

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

Variations for Catshl Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg621His VAR_029108 rs121913113

ClinVar genetic disease variations for Catshl Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic rs121913113 GRCh37 Chromosome 4, 1807803: 1807803
2 FGFR3 NM_000142.4(FGFR3): c.1637C> A (p.Thr546Lys) single nucleotide variant Pathogenic rs587777857 GRCh38 Chromosome 4, 1805661: 1805661

Expression for Catshl Syndrome

Search GEO for disease gene expression data for Catshl Syndrome.

Pathways for Catshl Syndrome

GO Terms for Catshl Syndrome

Sources for Catshl Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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