TCC
MCID: TRS002
MIFTS: 30

Tarsal-Carpal Coalition Syndrome (TCC) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Tarsal-Carpal Coalition Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 proximal symphalangism, 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:9 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:44 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:48 186570,186400

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

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9Disease Ontology, 10diseasecard, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tarsal-carpal coalition syndrome 9 10 22 48 50 63
tarsal carpal coalition syndrome 44 21 23
tcc 44 22
nog-related-symphalangism spectrum disorder 22


External Ids:

Disease Ontology9 DOID:0050789
MESH via Orphanet37 C536943
ICD10 via Orphanet27 Q74.8
UMLS via Orphanet64 C1861305

Related Diseases for Tarsal-Carpal Coalition Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Tarsal-Carpal Coalition Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1transitional cell carcinoma10.6
2proximal symphalangism10.4
3bladder transitional cell carcinoma10.3
4major depressive disorder10.0
5hereditary spastic paraplegia10.0
6ovary transitional cell carcinoma10.0
7hepatitis b10.0
8alpha 1-antitrypsin deficiency10.0
9bladder carcinoma10.0
10conjunctivitis10.0
11hepatitis10.0
12hodgkin's lymphoma10.0
13paraplegia10.0
14renal pelvis carcinoma10.0
15spastic paraplegia 1110.0
16chronic pain10.0
17spasticity10.0
18septic shock10.0

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



Diseases related to tarsal-carpal coalition syndrome

Symptoms for Tarsal-Carpal Coalition Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

186400

Clinical features from OMIM:

186570,186400

Symptoms:

50
  • tarsal anomaly/fusion/synostosis
  • ankle anomalies
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests, 23GTR
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Genetic tests related to Tarsal-Carpal Coalition Syndrome:

id Genetic test Affiliating Genes
1 Tarsal-Carpal Coalition Syndrome21 NOG
2 Tarsal Carpal Coalition Syndrome23

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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34MalaCards
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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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Publications for Tarsal-Carpal Coalition Syndrome

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Tarsal-Carpal Coalition Syndrome:

65
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:

1
id Gene Name 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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16Gene 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

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Compounds for genes affiliated with Tarsal-Carpal Coalition Syndrome

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GO Terms for genes affiliated with Tarsal-Carpal Coalition Syndrome

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Products for genes affiliated with Tarsal-Carpal Coalition Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tarsal-Carpal Coalition Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet