TCC
MCID: TRS002
MIFTS: 31

Tarsal-Carpal Coalition Syndrome (TCC) malady

Bone diseases, Fetal diseases categories

Summaries for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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). Affiliated tissues include bone.

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:42 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:46 186570,186400

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant


Aliases & Descriptions:

tarsal-carpal coalition syndrome 8 9 21 46 48 60
tarsal carpal coalition syndrome 42 20 22
tcc 42 21
nog-related-symphalangism spectrum disorder 21


External Ids:

Disease Ontology8 DOID:0050789
MESH via Orphanet35 C536943
ICD10 via Orphanet26 Q74.8
UMLS via Orphanet61 C1861305

Related Diseases for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to tarsal-carpal coalition syndrome

Clinical Features for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

186570,186400

Clinical synopsis from OMIM:

186400

Symptoms:

48
  • tarsal anomaly/fusion/synostosis
  • ankle anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

32
Bone

Animal Models for Tarsal-Carpal Coalition Syndrome or affiliated genes

About this section

Publications for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
50PubMed
See all sources

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

Genetic Variations for Tarsal-Carpal Coalition Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Tarsal-Carpal Coalition Syndrome:

62
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35ArgVAR_011361
2NOGp.Tyr222CysVAR_011365
3NOGp.Arg204LeuVAR_018326

Expression for genes affiliated with Tarsal-Carpal Coalition Syndrome

About this section
Sources:
15Gene Expression Omnibus DataSets
See all sources

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

Pathways for genes affiliated with Tarsal-Carpal Coalition Syndrome

About this section

Compounds for genes affiliated with Tarsal-Carpal Coalition Syndrome

About this section

GO Terms for genes affiliated with Tarsal-Carpal Coalition Syndrome

About this section

Products for genes affiliated with Tarsal-Carpal Coalition Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarsal-Carpal Coalition Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet