MCID: TRS002
MIFTS: 37

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 53 12 24 55 71 36 13 14 69
Tcc 53 49 24 71
Tarsal Carpal Coalition Syndrome 49 28
Nog-Related-Symphalangism Spectrum Disorder 24

Characteristics:

Orphanet epidemiological data:

55
tarsal-carpal coalition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
tarsal-carpal coalition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 186570
Disease Ontology 12 DOID:0050789
Orphanet 55 ORPHA1412
UMLS via Orphanet 70 C1861305
MESH via Orphanet 42 C536943
ICD10 via Orphanet 33 Q74.8
KEGG 36 H00778
UMLS 69 C1861305

Summaries for Tarsal-Carpal Coalition Syndrome

NIH Rare Diseases : 49 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 proximal symphalangism and spastic paraplegia 11, autosomal recessive, and has symptoms including short stature, abnormality of the ankles and tarsal synostosis. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (Noggin), and among its related pathways/superpathways are TGF-beta signaling pathway and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are digestive/alimentary and limbs/digits/tail

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.

Genetics Home Reference : 24 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.

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.

Description from OMIM: 186570

Related Diseases for Tarsal-Carpal Coalition Syndrome

Diseases related to Tarsal-Carpal Coalition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 29.3 NOG ROR2 YIPF2
2 spastic paraplegia 11, autosomal recessive 11.5
3 transitional cell carcinoma 11.3
4 bladder cancer 10.9
5 spastic paraplegia 11 10.9
6 leukemia, chronic myeloid 9.8
7 major depressive disorder 9.8
8 alpha-1-antitrypsin deficiency 9.8
9 beta-thalassemia 9.8
10 episodic pain syndrome, familial, 1 9.8
11 hepatitis 9.8
12 hepatitis b 9.8
13 hereditary spastic paraplegia 9.8
14 leukemia 9.8
15 thalassemia 9.8
16 lymphoma 9.8
17 paraplegia 9.8
18 conjunctivitis 9.8
19 myeloid leukemia 9.8
20 chronic pain 9.8
21 spasticity 9.8
22 hemoglobin c-beta-thalassemia syndrome 9.8
23 brachydactyly, type b1 9.7 NOG ROR2
24 multiple synostoses syndrome 9.7 NOG YIPF2
25 brachydactyly 9.5 NOG ROR2

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:

53
Skeletal Hands:
clinodactyly
brachydactyly
carpal fusion
symphalangism
short first metacarpal
more
Growth Height:
normal height

Head And Neck Ears:
normal hearing

Skeletal Limbs:
cubitus valgus
humeroradial fusion

Skeletal Feet:
tarsal fusion


Clinical features from OMIM:

186570

Human phenotypes related to Tarsal-Carpal Coalition Syndrome:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the ankles 55 31 hallmark (90%) Very frequent (99-80%) HP:0003028
3 tarsal synostosis 55 31 frequent (33%) Very frequent (99-80%) HP:0008368
4 clinodactyly 31 HP:0030084
5 cubitus valgus 31 occasional (7.5%) HP:0002967
6 brachydactyly 31 HP:0001156
7 short finger 31 HP:0009381
8 short 1st metacarpal 31 frequent (33%) HP:0010034
9 radial deviation of finger 31 frequent (33%) HP:0009466
10 humeroradial synostosis 31 occasional (7.5%) HP:0003041
11 carpal synostosis 31 frequent (33%) HP:0009702
12 progressive fusion 2nd-5th pip joints 31 HP:0006147
13 distal symphalangism of hands 31 occasional (7.5%) HP:0001204
14 proximal symphalangism of hands 31 frequent (33%) HP:0006152

MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome:

43
# 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:

# Genetic test Affiliating Genes
1 Tarsal Carpal Coalition Syndrome 28 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

38
Bone

Publications for Tarsal-Carpal Coalition Syndrome

Articles related to Tarsal-Carpal Coalition Syndrome:

# Title Authors Year
1
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. ( 29159868 )
2018
2
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
# 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
# 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 KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 CD44 ROR2
2 10.94 CD44 NOG
3 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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