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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 50 11 23 24 13 52 68 12 66
Tcc 46 23 24 68
 
Tarsal Carpal Coalition Syndrome 46 25
Nog-Related-Symphalangism Spectrum Disorder 24

Characteristics:

Orphanet epidemiological data:

52
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
tarsal-carpal coalition syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 186570
Disease Ontology11 DOID:0050789
Orphanet52 ORPHA1412
ICD10 via Orphanet29 Q74.8
MESH via Orphanet38 C536943
UMLS via Orphanet67 C1861305

Summaries for Tarsal-Carpal Coalition Syndrome

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NIH Rare Diseases:46 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 spastic paraplegia 11, autosomal recessive and spastic paraplegia 11, 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 respiratory system and digestive/alimentary.

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:24 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:68 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:50 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

Symptoms:

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  • abnormality of the ankles
  • short stature
  • tarsal synostosis

HPO human phenotypes related to Tarsal-Carpal Coalition Syndrome:

(show all 15)
id Description Frequency HPO Source Accession
1 abnormality of the ankles hallmark (90%) HP:0003028
2 short stature hallmark (90%) HP:0004322
3 tarsal synostosis hallmark (90%) HP:0008368
4 proximal symphalangism of hands common (75%) HP:0006152
5 tarsal synostosis common (75%) HP:0008368
6 radial deviation of finger common (75%) HP:0009466
7 carpal synostosis common (75%) HP:0009702
8 short 1st metacarpal common (75%) HP:0010034
9 distal symphalangism of hands occasional (7.5%) HP:0001204
10 cubitus valgus occasional (7.5%) HP:0002967
11 humeroradial synostosis occasional (7.5%) HP:0003041
12 brachydactyly syndrome HP:0001156
13 progressive fusion 2nd-5th pip joints HP:0006147
14 short finger HP:0009381
15 clinodactyly 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 Syndrome25
2 Tarsal-Carpal Coalition Syndrome23 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

34
Bone

Animal Models for Tarsal-Carpal Coalition Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6CD44, NOG, ROR2
2MP:00053818.5CD44, NOG, ROR2
3MP:00053718.5CD44, NOG, ROR2
4MP:00053918.2CD44, 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:

68
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)single nucleotide variantPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
2NOGNM_005450.4(NOG): c.611G> T (p.Arg204Leu)single nucleotide variantPathogenicrs104894610GRCh37Chr 17, 54672195: 54672195
3NOGNM_005450.4(NOG): c.104C> G (p.Pro35Arg)single nucleotide variantPathogenicrs104894611GRCh37Chr 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:00427339.6NOG, ROR2
2negative regulation of canonical Wnt signaling pathwayGO:00900909.3NOG, ROR2
3cartilage developmentGO:00512169.0CD44, NOG
4BMP signaling pathwayGO:00305099.0NOG, ROR2

Sources for Tarsal-Carpal Coalition Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet