MCID: TRS002
MIFTS: 35

Tarsal-Carpal Coalition Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

MalaCards integrated aliases for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 54 12 24 25 56 71 13 14 69
Tcc 50 24 25 71
Tarsal Carpal Coalition Syndrome 50 29
Nog-Related-Symphalangism Spectrum Disorder 25

Characteristics:

Orphanet epidemiological data:

56
tarsal-carpal coalition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to proximal symphalangism , multiple synostoses syndrome , and stapes ankylosis syndrome without symphalangism


HPO:

32
tarsal-carpal coalition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 186570
Disease Ontology 12 DOID:0050789
Orphanet 56 ORPHA1412
UMLS via Orphanet 70 C1861305
MESH via Orphanet 43 C536943
ICD10 via Orphanet 34 Q74.8

Summaries for Tarsal-Carpal Coalition Syndrome

NIH Rare Diseases : 50 tarsal carpal coalition syndrome (tcc) is a genetic condition characterized by fusion of the bones in the wrist (carpals), ankles (tarsals), and the fingers and toes (phalanges). other bone abnormalities in the hands and feet may be present. symptoms of tcc may include: stiffness and progressive immobility of the hands and feet and short stature. tcc is caused by mutations in the nog gene, and it is inherited in an autosomal dominant manner. although there is no specific treatment or cure for tcc, there may be ways to manage the symptoms. a team of doctors or specialists is often needed to figure out the treatment options for each person. last updated: 9/13/2016

MalaCards based summary : Tarsal-Carpal Coalition Syndrome, also known as tcc, is related to transitional cell carcinoma and spastic paraplegia 11, autosomal recessive, and has symptoms including short stature, tarsal synostosis and abnormality of the ankles. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (Noggin), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. Affiliated tissues include bone, and related phenotypes are digestive/alimentary and limbs/digits/tail

Disease Ontology : 12 An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 71 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: 186570

Related Diseases for Tarsal-Carpal Coalition Syndrome

Graphical network of the top 20 diseases related to Tarsal-Carpal Coalition Syndrome:



Diseases related to Tarsal-Carpal Coalition Syndrome

Symptoms & Phenotypes for Tarsal-Carpal Coalition Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
brachydactyly
clinodactyly
short first metacarpal
carpal fusion
symphalangism
more
Growth- Height:
normal height

Skeletal- Feet:
tarsal fusion

Head And Neck- Ears:
normal hearing

Skeletal- Limbs:
cubitus valgus
humeroradial fusion


Clinical features from OMIM:

186570

Human phenotypes related to Tarsal-Carpal Coalition Syndrome:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 tarsal synostosis 56 32 frequent (33%) Very frequent (99-80%) HP:0008368
3 abnormality of the ankles 56 32 hallmark (90%) Very frequent (99-80%) HP:0003028
4 brachydactyly 32 HP:0001156
5 clinodactyly 32 HP:0030084
6 cubitus valgus 32 occasional (7.5%) HP:0002967
7 humeroradial synostosis 32 occasional (7.5%) HP:0003041
8 carpal synostosis 32 frequent (33%) HP:0009702
9 progressive fusion 2nd-5th pip joints 32 HP:0006147
10 short finger 32 HP:0009381
11 short 1st metacarpal 32 frequent (33%) HP:0010034
12 radial deviation of finger 32 frequent (33%) HP:0009466
13 distal symphalangism of hands 32 occasional (7.5%) HP:0001204
14 proximal symphalangism of hands 32 frequent (33%) HP:0006152

MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 CD44 NOG ROR2
2 limbs/digits/tail MP:0005371 9.13 CD44 NOG ROR2
3 respiratory system MP:0005388 8.8 CD44 NOG ROR2

Drugs & Therapeutics for Tarsal-Carpal Coalition Syndrome

Search Clinical Trials , NIH Clinical Center for Tarsal-Carpal Coalition Syndrome

Genetic Tests for Tarsal-Carpal Coalition Syndrome

Genetic tests related to Tarsal-Carpal Coalition Syndrome:

id Genetic test Affiliating Genes
1 Tarsal Carpal Coalition Syndrome 29
2 Tarsal-Carpal Coalition Syndrome 24 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

39
Bone

Publications for Tarsal-Carpal Coalition Syndrome

Articles related to Tarsal-Carpal Coalition Syndrome:

id Title Authors Year
1
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. ( 11545688 )
2001

Variations for Tarsal-Carpal Coalition Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Tarsal-Carpal Coalition Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 NOG p.Pro35Arg VAR_011361 rs104894611
2 NOG p.Tyr222Cys VAR_011365 rs104894602
3 NOG p.Arg204Leu VAR_018326 rs104894610

ClinVar genetic disease variations for Tarsal-Carpal Coalition Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh37 Chromosome 17, 54672249: 54672249
2 NOG NM_005450.4(NOG): c.611G> T (p.Arg204Leu) single nucleotide variant Pathogenic rs104894610 GRCh37 Chromosome 17, 54672195: 54672195
3 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh37 Chromosome 17, 54671688: 54671688
4 NOG NM_005450.4(NOG): c.611G> A (p.Arg204Gln) single nucleotide variant Likely pathogenic rs104894610 GRCh38 Chromosome 17, 56594834: 56594834

Expression for Tarsal-Carpal Coalition Syndrome

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

Pathways for Tarsal-Carpal Coalition Syndrome

Pathways related to Tarsal-Carpal Coalition Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.94 CD44 NOG
2 10.35 NOG ROR2

GO Terms for Tarsal-Carpal Coalition Syndrome

Biological processes related to Tarsal-Carpal Coalition Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of canonical Wnt signaling pathway GO:0090090 9.32 NOG ROR2
2 skeletal system development GO:0001501 9.26 NOG ROR2
3 BMP signaling pathway GO:0030509 9.16 NOG ROR2
4 cartilage development GO:0051216 8.96 CD44 NOG
5 embryonic digit morphogenesis GO:0042733 8.62 NOG ROR2

Sources for Tarsal-Carpal Coalition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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