TCC
MCID: TRS002
MIFTS: 24

Tarsal-Carpal Coalition Syndrome (TCC) malady

Bone, Fetal categories

Summaries for Tarsal-Carpal Coalition Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Tarsal-Carpal Coalition Syndrome, also known as tarsal carpal coalition syndrome, is related to transitional cell carcinoma and bladder carcinoma, and has symptoms including tarsal anomaly/fusion/synostosis, ankle anomalies and autosomal dominant inheritance. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (noggin).

Disease Ontology:8 An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.

NIH Rare Diseases:43 Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). other bone abnormalities in the hands and feet may be present. approximately 10 affected families have been described. tarsal carpal coalition syndrome is caused by mutations in the nod gene, and it is inherited in an autosomal dominant pattern. last updated: 6/22/2009

Description from OMIM:47 186570,186400

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

tarsal-carpal coalition syndrome 8 9 21 47 49 61
tarsal carpal coalition syndrome 43 20 22
tcc 43 21
nog-related-symphalangism spectrum disorder 21


External Ids:

Disease Ontology8 DOID:0050789
MESH via Orphanet36 C536943
ICD10 via Orphanet26 Q74.8
UMLS via Orphanet62 C1861305

Related Diseases for Tarsal-Carpal Coalition Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Tarsal-Carpal Coalition Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1transitional cell carcinoma10.6
2bladder carcinoma10.5
3bladder transitional cell carcinoma10.4
4proximal symphalangism10.4
5major depressive disorder10.0
6pain disorder10.0
7hereditary spastic paraplegia10.0
8ovary transitional cell carcinoma10.0
9spastic paraplegia 1110.0
10chronic pain10.0
11septic shock10.0

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



Diseases related to tarsal-carpal coalition syndrome

Clinical Features for Tarsal-Carpal Coalition Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

186570,186400

Clinical synopsis from OMIM:

186400

Symptoms:

49 (see all 4)
  • tarsal anomaly/fusion/synostosis
  • ankle anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tarsal-Carpal Coalition Syndrome

Drug clinical trials:

Search ClinicalTrials for Tarsal-Carpal Coalition Syndrome

Search NIH Clinical Center for Tarsal-Carpal Coalition Syndrome

Search CenterWatch for Tarsal-Carpal Coalition Syndrome

Genetic Tests for Tarsal-Carpal Coalition Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Tarsal-Carpal Coalition Syndrome:

id Genetic test Affiliating Genes
1 Tarsal-carpal Coalition Syndrome20 NOG
2 Tarsal Carpal Coalition Syndrome22

Anatomical Context for Tarsal-Carpal Coalition Syndrome

Animal Models for Tarsal-Carpal Coalition Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Tarsal-Carpal Coalition Syndrome

Sources:
51PubMed
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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
2
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744)
1998

Genetic Variations for Tarsal-Carpal Coalition Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Tarsal-Carpal Coalition Syndrome:

63
id Symbol AA change Variation SNP ID
1NOGp.Pro35ArgVAR_011361
2NOGp.Tyr222CysVAR_011365
3NOGp.Arg204LeuVAR_018326

Expression for genes affiliated with Tarsal-Carpal Coalition Syndrome

Sources:
15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Tarsal-Carpal Coalition Syndrome

GO Terms for genes affiliated with Tarsal-Carpal Coalition Syndrome

Products for genes affiliated with Tarsal-Carpal Coalition Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarsal-Carpal Coalition Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet