TCC
MCID: TRS002
MIFTS: 34

Tarsal-Carpal Coalition Syndrome (TCC) 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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 52 11 24 25 54 70 12 13 68
Tcc 48 24 25 70
 
Tarsal Carpal Coalition Syndrome 48 27
Nog-Related-Symphalangism Spectrum Disorder 25

Characteristics:

Orphanet epidemiological data:

54
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
tarsal-carpal coalition syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 186570
Disease Ontology11 DOID:0050789
Orphanet54 ORPHA1412
MESH via Orphanet40 C536943
UMLS via Orphanet69 C1861305
ICD10 via Orphanet31 Q74.8

Summaries for Tarsal-Carpal Coalition Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. 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:70 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:52 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 & Phenotypes 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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ankles64 54 Very frequent (99-80%) HP:0003028
2 short stature64 54 Very frequent (99-80%) HP:0004322
3 tarsal synostosis64 54 Very frequent (99-80%) HP:0008368
4 brachydactyly syndrome64 HP:0001156
5 distal symphalangism of hands64 HP:0001204
6 cubitus valgus64 HP:0002967
7 humeroradial synostosis64 HP:0003041
8 progressive fusion 2nd-5th pip joints64 HP:0006147
9 proximal symphalangism of hands64 HP:0006152
10 short finger64 HP:0009381
11 radial deviation of finger64 HP:0009466
12 carpal synostosis64 HP:0009702
13 short 1st metacarpal64 HP:0010034
14 clinodactyly64 HP:0030084

MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3CD44, NOG, ROR2
2MP:00053719.2CD44, NOG, ROR2
3MP:00053888.5CD44, NOG, ROR2

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 Syndrome27
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:

36
Bone

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:

70
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.611G> A (p.Arg204Gln)SNVLikely pathogenicrs104894610GRCh38Chr 17, 56594834: 56594834
2NOGNM_ 005450.4(NOG): c.665A> G (p.Tyr222Cys)SNVPathogenicrs104894602GRCh37Chr 17, 54672249: 54672249
3NOGNM_ 005450.4(NOG): c.611G> T (p.Arg204Leu)SNVPathogenicrs104894610GRCh37Chr 17, 54672195: 54672195
4NOGNM_ 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
1BMP signaling pathwayGO:003050910.0NOG, ROR2
2embryonic digit morphogenesisGO:004273310.0NOG, ROR2
3negative regulation of canonical Wnt signaling pathwayGO:00900909.9NOG, ROR2
4cartilage developmentGO:00512169.8CD44, NOG
5skeletal system developmentGO:00015019.3NOG, ROR2

Sources for Tarsal-Carpal Coalition Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet