MCID: CMP067
MIFTS: 25

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome

Categories: 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 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0111160
MeSH 43 C537975
UMLS 71 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 thanatophoric dysplasia, type i and camptodactyly, tall stature, and hearing loss syndrome. An important gene associated with Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3). Related phenotypes are hearing impairment and scoliosis

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 hearing impairment 31 hallmark (90%) HP:0000365
2 scoliosis 31 hallmark (90%) HP:0002650
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 second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 61
27139183 2016
2
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 61
17033969 2006

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 GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
2 FGFR3 NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
3 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
4 FGFR3 NM_001163213.1(FGFR3):c.1868G>A (p.Arg623His)SNV Pathogenic 16355 rs121913113 4:1807803-1807803 4:1806076-1806076
5 FGFR3 NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu)SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
6 FGFR3 NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
7 FGFR3 NM_001163213.1(FGFR3):c.1643C>A (p.Thr548Lys)SNV Pathogenic 156545 rs587777857 4:1807388-1807388 4:1805661-1805661
8 FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
9 FGFR3 NM_001163213.1(FGFR3):c.2293C>T (p.Leu765=)SNV Likely pathogenic 627445 rs774517056 4:1808855-1808855 4:1807128-1807128
10 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
11 FGFR3 NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser)SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
12 FGFR3 NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser)SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
13 FGFR3 NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp)SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344
14 FGFR3 NM_001163213.1(FGFR3):c.1337C>T (p.Ser446Phe)SNV not provided 585087 rs761325047 4:1806615-1806615 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

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to amino acid stimulus GO:0071230 9.51 LAMTOR5 SH3BP4
2 regulation of cardiac conduction GO:1903779 9.49 NPPC NPR2
3 chondrocyte differentiation GO:0002062 9.48 FGFR3 HMGA2
4 cGMP-mediated signaling GO:0019934 9.46 NPPC NPR2
5 chondrocyte proliferation GO:0035988 9.43 FGFR3 HMGA2
6 cGMP biosynthetic process GO:0006182 9.4 NPPC NPR2
7 protein localization to lysosome GO:0061462 9.37 LAMTOR5 SH3BP4
8 receptor guanylyl cyclase signaling pathway GO:0007168 9.32 NPPC NPR2
9 reproductive process GO:0022414 9.26 NPPC NPR2
10 positive regulation of cGMP-mediated signaling GO:0010753 9.16 NPR2 NPPC
11 negative regulation of meiotic cell cycle GO:0051447 8.96 NPR2 NPPC
12 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
28 GO
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30 HMDB
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32 ICD10
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