MCID: TRS002
MIFTS: 30

Tarsal-Carpal Coalition Syndrome malady

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

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 tarsal carpal coalition syndrome, is related to transitional cell carcinoma and bladder transitional cell carcinoma, 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). Affiliated tissues include bone.

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: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

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 62UMLS, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Tarsal-Carpal Coalition Syndrome, Aliases & Descriptions:

Name: Tarsal-Carpal Coalition Syndrome 47 10 11 43 23 49 62
Tarsal Carpal Coalition Syndrome 43 22 24
 
Tcc 43 23
Nog-Related-Symphalangism Spectrum Disorder 23


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
tarsal-carpal coalition syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

OMIM47 186570
Disease Ontology10 DOID:0050789
Orphanet49 1412
ICD10 via Orphanet28 Q74.8
UMLS via Orphanet63 C1861305
MESH via Orphanet36 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 11)
idRelated DiseaseScoreTop Affiliating Genes
1transitional cell carcinoma10.6
2bladder transitional cell carcinoma10.4
3bladder cancer, somatic10.0
4hepatitis10.0
5hepatitis b10.0
6hereditary spastic paraplegia10.0
7conjunctivitis10.0
8paraplegia10.0
9spastic paraplegia 1110.0
10chronic pain10.0
11spasticity10.0

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:

186570

Clinical features from OMIM:

186570

Symptoms:

 49
  • 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 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 progressive fusion 2nd-5th pip joints HP:0006147
14 short finger HP:0009381
15 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 Syndrome22 NOG
2 Tarsal Carpal Coalition Syndrome24

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

33
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:

7
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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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
  • Kits and Assays

Sources for Tarsal-Carpal Coalition Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet