MCID: TRS002
MIFTS: 36

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 57 12 25 59 75 37 13 15 40 73
Tcc 57 53 25 75
Tarsal Carpal Coalition Syndrome 53 29 6
Nog-Related-Symphalangism Spectrum Disorder 25

Characteristics:

Orphanet epidemiological data:

59
tarsal-carpal coalition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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 57 186570
Disease Ontology 12 DOID:0050789
Orphanet 59 ORPHA1412
MESH via Orphanet 45 C536943
UMLS via Orphanet 74 C1861305
ICD10 via Orphanet 34 Q74.8
KEGG 37 H00778
UMLS 73 C1861305

Summaries for Tarsal-Carpal Coalition Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Tarsal-Carpal Coalition Syndrome, also known as tcc, is related to proximal symphalangism and bladder cancer. 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 abnormality of the ankles and short stature

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 : 75 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

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 28.8 NOG ROR2 YIPF2
2 bladder cancer 11.3
3 spastic paraplegia 11, autosomal recessive 11.2
4 small cell carcinoma of the bladder 11.2
5 spastic paraplegia 11 10.9
6 transitional cell carcinoma 10.4
7 conjunctivitis 9.9
8 renal cell carcinoma, nonpapillary 9.8
9 major depressive disorder 9.8
10 alpha-1-antitrypsin deficiency 9.8
11 beta-thalassemia 9.8
12 hepatitis 9.8
13 hepatitis b 9.8
14 hereditary spastic paraplegia 9.8
15 leukemia 9.8
16 thalassemia 9.8
17 lymphoma 9.8
18 paraplegia 9.8
19 myeloid leukemia 9.8
20 depression 9.8
21 chronic pain 9.8
22 spasticity 9.8
23 brachydactyly, type b1 9.6 NOG ROR2
24 multiple synostoses syndrome 9.6 NOG YIPF2
25 brachydactyly 9.2 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:

57
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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 tarsal synostosis 59 32 frequent (33%) Very frequent (99-80%) HP:0008368
4 brachydactyly 32 HP:0001156
5 distal symphalangism of hands 32 occasional (7.5%) HP:0001204
6 cubitus valgus 32 occasional (7.5%) HP:0002967
7 humeroradial synostosis 32 occasional (7.5%) HP:0003041
8 progressive fusion 2nd-5th pip joints 32 HP:0006147
9 proximal symphalangism of hands 32 frequent (33%) HP:0006152
10 short finger 32 HP:0009381
11 radial deviation of finger 32 frequent (33%) HP:0009466
12 carpal synostosis 32 frequent (33%) HP:0009702
13 short 1st metacarpal 32 frequent (33%) HP:0010034
14 clinodactyly 32 HP:0030084

MGI Mouse Phenotypes related to Tarsal-Carpal Coalition Syndrome:

46
# 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 29 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

41
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:

75
# 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.665A> G (p.Tyr222Cys) single nucleotide variant Pathogenic rs104894602 GRCh38 Chromosome 17, 56594888: 56594888
3 NOG NM_005450.4(NOG): c.611G> T (p.Arg204Leu) single nucleotide variant Pathogenic rs104894610 GRCh37 Chromosome 17, 54672195: 54672195
4 NOG NM_005450.4(NOG): c.611G> T (p.Arg204Leu) single nucleotide variant Pathogenic rs104894610 GRCh38 Chromosome 17, 56594834: 56594834
5 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh37 Chromosome 17, 54671688: 54671688
6 NOG NM_005450.4(NOG): c.104C> G (p.Pro35Arg) single nucleotide variant Pathogenic rs104894611 GRCh38 Chromosome 17, 56594327: 56594327
7 NOG NM_005450.4(NOG): c.611G> A (p.Arg204Gln) single nucleotide variant Likely pathogenic rs104894610 GRCh38 Chromosome 17, 56594834: 56594834
8 NOG NM_005450.4(NOG): c.611G> A (p.Arg204Gln) single nucleotide variant Likely pathogenic rs104894610 GRCh37 Chromosome 17, 54672195: 54672195

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:

37
# 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
11.47 CD44 ROR2
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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.4 CD44 ROR2
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.37 NOG ROR2
3 skeletal system development GO:0001501 9.32 NOG ROR2
4 BMP signaling pathway GO:0030509 9.26 NOG ROR2
5 cartilage development GO:0051216 9.16 CD44 NOG
6 positive regulation of kinase activity GO:0033674 8.96 CD44 ROR2
7 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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