MCID: CMP067
MIFTS: 27

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

MalaCards integrated aliases for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

Name: Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 12 29 6 15
Catshl Syndrome 12 44 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0111160
MeSH 44 C537975
UMLS 70 C1864852

Summaries for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Disease Ontology : 12 A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16.

MalaCards based summary : Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, also known as catshl syndrome, is related to craniosynostosis 1 and thanatophoric dysplasia, type i. An important gene associated with Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Related phenotypes are scoliosis and hearing impairment

Related Diseases for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Graphical network of the top 20 diseases related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:



Diseases related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Symptoms & Phenotypes for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Human phenotypes related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 hallmark (90%) HP:0002650
2 hearing impairment 31 hallmark (90%) HP:0000365
3 camptodactyly of finger 31 hallmark (90%) HP:0100490
4 abnormality of lower limb joint 31 hallmark (90%) HP:0100491

Drugs & Therapeutics for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Search Clinical Trials , NIH Clinical Center for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Cochrane evidence based reviews: catshl syndrome

Genetic Tests for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Genetic tests related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

# Genetic test Affiliating Genes
1 Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 29 FGFR3

Anatomical Context for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Publications for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Articles related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

# Title Authors PMID Year
1
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 61 6
17033969 2006
2
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 6
24864036 2014
3
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 6
16912704 2006
4
Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling. 61
32641982 2020
5
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 61
27139183 2016

Variations for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

ClinVar genetic disease variations for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
2 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
3 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
4 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
5 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
6 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
7 FGFR3 NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) SNV Pathogenic 16355 rs121913113 GRCh37: 4:1807803-1807803
GRCh38: 4:1806076-1806076
8 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
9 FGFR3 NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) SNV Pathogenic 156545 rs587777857 GRCh37: 4:1807388-1807388
GRCh38: 4:1805661-1805661
10 FGFR3 NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) SNV Likely pathogenic 627445 rs774517056 GRCh37: 4:1808855-1808855
GRCh38: 4:1807128-1807128
11 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
12 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
13 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
14 FGFR3 NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) SNV not provided 585087 rs761325047 GRCh37: 4:1806615-1806615
GRCh38: 4:1804888-1804888

Expression for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Search GEO for disease gene expression data for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome.

Pathways for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

GO Terms for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Cellular components related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.92 SH3BP4 SEC23A MAN1B1 FGFR3

Biological processes related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac conduction GO:1903779 9.48 NPR2 NPPC
2 chondrocyte differentiation GO:0002062 9.46 HMGA2 FGFR3
3 cGMP-mediated signaling GO:0019934 9.43 NPR2 NPPC
4 chondrocyte proliferation GO:0035988 9.4 HMGA2 FGFR3
5 cGMP biosynthetic process GO:0006182 9.37 NPR2 NPPC
6 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 NPR2 NPPC
7 reproductive process GO:0022414 9.26 NPR2 NPPC
8 positive regulation of cGMP-mediated signaling GO:0010753 9.16 NPR2 NPPC
9 negative regulation of meiotic cell cycle GO:0051447 8.96 NPR2 NPPC
10 negative regulation of oocyte maturation GO:1900194 8.62 NPR2 NPPC

Sources for Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....