MCID: TRS002
MIFTS: 33

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:
49OMIM, 10Disease Ontology, 11diseasecard, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 45NIH Rare Diseases, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 49 10 11 22 23 12 51 67 65
Tcc 45 22 23 67
 
Tarsal Carpal Coalition Syndrome 45 24
Nog-Related-Symphalangism Spectrum Disorder 23

Characteristics:

Orphanet epidemiological data:

51
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

61
tarsal-carpal coalition syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 186570
Disease Ontology10 DOID:0050789
Orphanet51 1412
ICD10 via Orphanet28 Q74.8
MESH via Orphanet37 C536943
UMLS via Orphanet66 C1861305
UMLS65 C1861305

Summaries for Tarsal-Carpal Coalition Syndrome

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Genetics Home Reference:23 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 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 is Cardiac Progenitor Differentiation. Affiliated tissues include bone, prostate and lung.

Disease Ontology:10 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:45 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

UniProtKB/Swiss-Prot:67 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:49 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:

 51
  • tarsal anomaly/fusion/synostosis
  • ankle anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism

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 short 1st metacarpal common (75%) HP:0010034
5 carpal synostosis common (75%) HP:0009702
6 radial deviation of finger common (75%) HP:0009466
7 tarsal synostosis common (75%) HP:0008368
8 proximal symphalangism (hands) common (75%) HP:0006152
9 humeroradial synostosis occasional (7.5%) HP:0003041
10 cubitus valgus occasional (7.5%) HP:0002967
11 distal symphalangism (hands) occasional (7.5%) HP:0001204
12 clinodactyly HP:0030084
13 short finger HP:0009381
14 progressive fusion 2nd-5th pip joints HP:0006147
15 brachydactyly syndrome HP:0001156

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 Syndrome22 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

33
Bone, Prostate, Lung

Animal Models for Tarsal-Carpal Coalition Syndrome or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1NOGp.Pro35ArgVAR_011361
2NOGp.Tyr222CysVAR_011365
3NOGp.Arg204LeuVAR_018326

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
19.0NOG, ROR2

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:00305099.0NOG, ROR2
2embryonic digit morphogenesisGO:00427338.9NOG, ROR2

Sources for Tarsal-Carpal Coalition Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet