Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111160

MeSH ⁴³ C537975

SNOMED-CT via HPO ⁶⁸ 103276001 111266001 15188001 more

UMLS ⁷¹ C1864852

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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

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

Diseases related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	thanatophoric dysplasia, type i	30.2	NPR2 NPPC FGFR3
2	camptodactyly, tall stature, and hearing loss syndrome	12.4
3	paraphimosis	10.2	NPR2 NPPC
4	skeletal dysplasias	10.2	NPPC FGFR3
5	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
6	scoliosis	10.1
7	craniosynostosis	10.1
8	epiphyseal chondrodysplasia, miura type	10.1	NPR2 NPPC
9	achondroplasia	10.1	NPPC FGFR3
10	achondroplasia, severe, with developmental delay and acanthosis nigricans	10.1	NPPC FGFR3
11	acromesomelic dysplasia, maroteaux type	10.0	NPR2 NPPC FGFR3
12	overgrowth syndrome	10.0	NPR2 NPPC
13	acromesomelic dysplasia	10.0	NPR2 NPPC FGFR3
14	aplasia of lacrimal and salivary glands	10.0	SH3BP4 FGFR3
15	hypochondroplasia	10.0	NPR2 NPPC FGFR3
16	bone development disease	10.0	NPR2 NPPC FGFR3
17	crouzon syndrome	9.8	NPR2 FGFR3
18	odontochondrodysplasia	9.7	NPR2 NPPC FGFR3

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

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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

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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

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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

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

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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	Escobar LF...Bamshad M	27139183	2016
2	A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. ⁶¹	Toydemir RM...Bamshad MJ	17033969	2006

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

Genes related to Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	516.31	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	6.9	DISEASES inferred ¹⁵
3	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	6.53	DISEASES inferred ¹⁵
4	NPPC	Natriuretic Peptide C	Protein Coding	6.43	DISEASES inferred ¹⁵
5	SEC23A	Sec23 Homolog A, COPII Coat Complex Component	Protein Coding	6.39	DISEASES inferred ¹⁵
6	TSSC4	Tumor Suppressing Subtransferable Candidate 4	Protein Coding	5.17	DISEASES inferred ¹⁵
7	SH3BP4	SH3 Domain Binding Protein 4	Protein Coding	4.95	DISEASES inferred ¹⁵
8	MARK1	Microtubule Affinity Regulating Kinase 1	Protein Coding	4.91	DISEASES inferred ¹⁵
9	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	4.86	DISEASES inferred ¹⁵
10	NAP1L4	Nucleosome Assembly Protein 1 Like 4	Protein Coding	4.85	DISEASES inferred ¹⁵
11	LAMTOR5	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 5	Protein Coding	4.61	DISEASES inferred ¹⁵

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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

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

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

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

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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

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