TCC
MCID: TRS002
MIFTS: 30

Tarsal-Carpal Coalition Syndrome (TCC) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Tarsal-Carpal Coalition Syndrome

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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 based summary: 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: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

Descriptions from OMIM:46 186570,186400

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Tarsal-Carpal Coalition Syndrome, Aliases & Descriptions:

Name: Tarsal-Carpal Coalition Syndrome 8 9 21 46 48 62
Tarsal Carpal Coalition Syndrome 42 20 22
 
Tcc 42 21
Nog-Related-Symphalangism Spectrum Disorder 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050789
ICD10 via Orphanet26 Q74.8
UMLS via Orphanet63 C1861305
MESH via Orphanet35 C536943

Related Diseases for Tarsal-Carpal Coalition Syndrome

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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
4bladder carcinoma10.1
5alpha 1-antitrypsin deficiency10.0
6hepatitis10.0
7hepatitis b10.0
8hereditary spastic paraplegia10.0
9hodgkin's lymphoma10.0
10major depressive disorder10.0
11ovary transitional cell carcinoma10.0
12conjunctivitis10.0
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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Symptoms by clinical synopsis from OMIM:

186400

Clinical features from OMIM:

186570,186400

Symptoms:

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

HPO human phenotypes related to Tarsal-Carpal Coalition Syndrome:

(show all 24)
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 proximal symphalangism (hands) common (75%) HP:0006152
5 tarsal synostosis common (75%) HP:0008368
6 radial deviation of finger common (75%) HP:0009466
7 carpal synostosis common (75%) HP:0009702
8 short 1st metacarpal common (75%) HP:0010034
9 distal symphalangism (hands) occasional (7.5%) HP:0001204
10 cubitus valgus occasional (7.5%) HP:0002967
11 humeroradial synostosis occasional (7.5%) HP:0003041
12 autosomal dominant inheritance HP:0000006
13 underdeveloped nasal alae HP:0000430
14 anonychia HP:0001798
15 radial head subluxation HP:0003048
16 metacarpophalangeal synostosis HP:0005880
17 tarsal synostosis HP:0008368
18 carpal synostosis HP:0009702
19 aplasia/hypoplasia of the middle phalanges of the hand HP:0009843
20 short metacarpal HP:0010049
21 autosomal dominant inheritance HP:0000006
22 progressive fusion 2nd-5th pip joints HP:0006147
23 short finger HP:0009381
24 clinodactyly HP:0030084

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

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Drug clinical trials:

Search ClinicalTrials for Tarsal-Carpal Coalition Syndrome

Search 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 Syndrome20 NOG
2 Tarsal Carpal Coalition Syndrome22

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

32
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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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:

64
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:

6
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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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

Sources for Tarsal-Carpal Coalition Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet