MCID: TRS002
MIFTS: 35

Tarsal-Carpal Coalition Syndrome malady

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

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 51 11 24 25 53 69 12 13 67
Tcc 47 24 25 69
 
Tarsal Carpal Coalition Syndrome 47 26
Nog-Related-Symphalangism Spectrum Disorder 25

Characteristics:

Orphanet epidemiological data:

53
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
tarsal-carpal coalition syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 186570
Disease Ontology11 DOID:0050789
Orphanet53 ORPHA1412
MESH via Orphanet39 C536943
UMLS via Orphanet68 C1861305
ICD10 via Orphanet30 Q74.8

Summaries for Tarsal-Carpal Coalition Syndrome

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NIH Rare Diseases:47 Tarsal carpal coalition syndrome (TCC) is a genetic condition characterized by fusion of the bones in the wrist (carpals), ankles (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Symptoms of TCC may include: stiffness and progressive immobility of the hands and feet and short stature. TCC is caused by mutations in the NOG gene, and it is inherited in an autosomal dominant manner. Although there is no specific treatment or cure for TCC, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. Last updated: 9/13/2016

MalaCards based summary: Tarsal-Carpal Coalition Syndrome, also known as tcc, is related to transitional cell carcinoma and spastic paraplegia 11, autosomal recessive, and has symptoms including abnormality of the ankles, short stature and tarsal synostosis. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (Noggin), and among its related pathways are Cardiac Progenitor Differentiation and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Disease Ontology:11 An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.

Genetics Home Reference:25 Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family.

UniProtKB/Swiss-Prot:69 Tarsal-carpal coalition syndrome: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.

Description from OMIM:51 186570

Related Diseases for Tarsal-Carpal Coalition Syndrome

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Graphical network of the top 20 diseases related to Tarsal-Carpal Coalition Syndrome:



Diseases related to tarsal-carpal coalition syndrome

Symptoms for Tarsal-Carpal Coalition Syndrome

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Symptoms by clinical synopsis from OMIM:

186570

Clinical features from OMIM:

186570

Human phenotypes related to Tarsal-Carpal Coalition Syndrome:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ankles63 53 hallmark (90%) Very frequent (99-80%) HP:0003028
2 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
3 tarsal synostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008368
4 proximal symphalangism of hands63 common (75%) HP:0006152
5 radial deviation of finger63 common (75%) HP:0009466
6 carpal synostosis63 common (75%) HP:0009702
7 short 1st metacarpal63 common (75%) HP:0010034
8 distal symphalangism of hands63 occasional (7.5%) HP:0001204
9 cubitus valgus63 occasional (7.5%) HP:0002967
10 humeroradial synostosis63 occasional (7.5%) HP:0003041
11 brachydactyly syndrome63 HP:0001156
12 progressive fusion 2nd-5th pip joints63 HP:0006147
13 short finger63 HP:0009381
14 clinodactyly63 HP:0030084

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tarsal-Carpal Coalition Syndrome

Genetic Tests for Tarsal-Carpal Coalition Syndrome

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Genetic tests related to Tarsal-Carpal Coalition Syndrome:

id Genetic test Affiliating Genes
1 Tarsal Carpal Coalition Syndrome26
2 Tarsal-Carpal Coalition Syndrome24 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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MalaCards organs/tissues related to Tarsal-Carpal Coalition Syndrome:

35
Bone

Animal Models for Tarsal-Carpal Coalition Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3CD44, NOG, ROR2
2MP:00053719.3CD44, NOG, ROR2
3MP:00053889.2CD44, NOG, ROR2
4MP:00053918.5CD44, NOG, ROR2

Publications for Tarsal-Carpal Coalition Syndrome

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Articles related to Tarsal-Carpal Coalition Syndrome:

idTitleAuthorsYear
1
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (11545688)
2001

Variations for Tarsal-Carpal Coalition Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Tarsal-Carpal Coalition Syndrome:

69
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35ArgVAR_011361rs104894611
2NOGp.Tyr222CysVAR_011365rs104894602
3NOGp.Arg204LeuVAR_018326rs104894610

Clinvar genetic disease variations for Tarsal-Carpal Coalition Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.665A> G (p.Tyr222Cys)SNVPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
2NOGNM_005450.4(NOG): c.611G> T (p.Arg204Leu)SNVPathogenicrs104894610GRCh37Chr 17, 54672195: 54672195
3NOGNM_005450.4(NOG): c.104C> G (p.Pro35Arg)SNVPathogenicrs104894611GRCh37Chr 17, 54671688: 54671688

Expression for genes affiliated with Tarsal-Carpal Coalition Syndrome

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Search GEO for disease gene expression data for Tarsal-Carpal Coalition Syndrome.

Pathways for genes affiliated with Tarsal-Carpal Coalition Syndrome

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Pathways related to Tarsal-Carpal Coalition Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3NOG, ROR2
29.1CD44, NOG

GO Terms for genes affiliated with Tarsal-Carpal Coalition Syndrome

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Biological processes related to Tarsal-Carpal Coalition Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.5NOG, ROR2
2negative regulation of canonical Wnt signaling pathwayGO:00900909.3NOG, ROR2
3cartilage developmentGO:00512169.2CD44, NOG
4BMP signaling pathwayGO:00305099.0NOG, ROR2

Sources for Tarsal-Carpal Coalition Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet