TCC
MCID: TRS002
MIFTS: 36

Tarsal-Carpal Coalition Syndrome (TCC)

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

Aliases & Classifications for Tarsal-Carpal Coalition Syndrome

MalaCards integrated aliases for Tarsal-Carpal Coalition Syndrome:

Name: Tarsal-Carpal Coalition Syndrome 58 12 26 60 76 38 13 15 41 74
Tcc 58 54 26 76 17
Tarsal Carpal Coalition Syndrome 54 30 6
Nog-Related-Symphalangism Spectrum Disorder 26

Characteristics:

Orphanet epidemiological data:

60
tarsal-carpal coalition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
tarsal-carpal coalition syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050789
OMIM 58 186570
KEGG 38 H00778
MESH via Orphanet 46 C536943
ICD10 via Orphanet 35 Q74.8
UMLS via Orphanet 75 C1861305
Orphanet 60 ORPHA1412
UMLS 74 C1861305

Summaries for Tarsal-Carpal Coalition Syndrome

NIH Rare Diseases : 54 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 spastic paraplegia 11, autosomal recessive. An important gene associated with Tarsal-Carpal Coalition Syndrome is NOG (Noggin), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include bone, myeloid and kidney, and related phenotypes are short stature and abnormality of the ankles

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 : 26 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 : 76 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

Human phenotypes related to Tarsal-Carpal Coalition Syndrome:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of the ankles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003028
3 tarsal synostosis 60 33 frequent (33%) Very frequent (99-80%) HP:0008368
4 short 1st metacarpal 33 frequent (33%) HP:0010034
5 radial deviation of finger 33 frequent (33%) HP:0009466
6 carpal synostosis 33 frequent (33%) HP:0009702
7 proximal symphalangism of hands 33 frequent (33%) HP:0006152
8 cubitus valgus 33 occasional (7.5%) HP:0002967
9 humeroradial synostosis 33 occasional (7.5%) HP:0003041
10 distal symphalangism of hands 33 occasional (7.5%) HP:0001204
11 clinodactyly 33 HP:0030084
12 brachydactyly 33 HP:0001156
13 short finger 33 HP:0009381
14 progressive fusion 2nd-5th pip joints 33 HP:0006147

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NOG

Anatomical Context for Tarsal-Carpal Coalition Syndrome

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

42
Bone, Myeloid, Kidney, Lymph Node, Ovary, Brain, Colon

Publications for Tarsal-Carpal Coalition Syndrome

Articles related to Tarsal-Carpal Coalition Syndrome:

(show top 50) (show all 130)
# Title Authors Year
1
Ion Mobility-Mass Spectrometry Reveals Details of Formation and Structure for GAA·TCC DNA and RNA Triplexes. ( 30341580 )
2019
2
Numerical and Theoretical Aspects of the DMRG-TCC Method Exemplified by the Nitrogen Dimer. ( 30802406 )
2019
3
TCC-GUI: a Shiny-based application for differential expression analysis of RNA-Seq count data. ( 30867032 )
2019
4
Identification of GCC-box and TCC-box motifs in the promoters of differentially expressed genes in rice (Oryza sativa L.): Experimental and computational approaches. ( 31026257 )
2019
5
Fate of Triclocarban (TCC) in aquatic and terrestrial systems and human exposure. ( 31103866 )
2019
6
Determination of Apoptotic Effect of Juglone on Human Bladder Cancer TCC-SUP and RT-4 Cells: An In Vitro Study. ( 30055552 )
2018
7
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. ( 29159868 )
2018
8
Screening for canine transitional cell carcinoma (TCC) by SERS-based quantitative urine cytology. ( 29597048 )
2018
9
Synchronous ipsilateral renal cell carcinoma and transitional cell carcinoma of the renal pelvic with complete remission of TCC after neoadjuvant chemotherapy. ( 29888183 )
2018
10
Three-cavity clearance (TCC) can decrease the fistula rate after drainage of a perianal abscess: a case-control study. ( 30151207 )
2018
11
Therapy-relevant aberrant expression of MRP3 and BCRP mRNA in TCC-/SCC-bladder cancer tissue of untreated patients. ( 28586062 )
2017
12
Functional Characterization of a Novel Amidase Involved in Biotransformation of Triclocarban and its Dehalogenated Congeners in Ochrobactrum sp. TCC-2. ( 27966913 )
2017
13
Enhanced Biotransformation of Triclocarban by Ochrobactrum sp. TCC-1 Under Anoxic Nitrate Respiration Conditions. ( 28229216 )
2017
14
Triclosan (TCS) and triclocarban (TCC) induce systemic toxic effects in a model organism the nematode Caenorhabditis elegans. ( 28837926 )
2017
15
Bladder Endometriosis Mimicking TCC - A Case Report. ( 27042525 )
2016
16
TCC in Transplant Ureter--When and When Not to Preserve the Transplant Kidney. ( 26731492 )
2016
17
Triclosan (TCS) and Triclocarban (TCC) cause lifespan reduction and reproductive impairment through oxidative stress-mediated expression of the defensome in the monogonont rotifer (Brachionus koreanus). ( 27067728 )
2016
18
Expérience de fréquentation des lieux publics par des personnes âgées ayant subi un TCC en présence d'un accompagnateur-citoyen: projet pilote. ( 27223579 )
2016
19
A case report of SPG11 mutations in a Chinese ARHSP-TCC family. ( 27256065 )
2016
20
Re: TCC in Transplant Ureter-When and When Not to Preserve the Transplant Kidney. ( 27628789 )
2016
21
Improvement of balance control ability and flexibility in the elderly Tai Chi Chuan (TCC) practitioners: a systematic review and meta-analysis. ( 25497683 )
2015
22
Solitary second metatarsal metastasis as the first site of distant spread in TCC urinary bladder: A case report. ( 26604452 )
2015
23
Complete Transperitoneal Laparoscopic Nephroureterectomy in Circumcaval Ureter with Upper Tract TCC: Initial Case Report. ( 27579377 )
2015
24
Destruction of the bladder by single dose Mitomycin C for low-stage transitional cell carcinoma (TCC)--avoidance, recognition, management and consent. ( 24053461 )
2014
25
Hairpin DNA probe with 5'-TCC/CCC-3' overhangs for the creation of silver nanoclusters and miRNA assay. ( 23932977 )
2014
26
Field dissipation and risk assessment of typical personal care products TCC, TCS, AHTN and HHCB in biosolid-amended soils. ( 24239829 )
2014
27
Electroluminescent TCC, C3dg and fB/Bb epitope assays for profiling complement cascade activation in vitro using an activated complement serum calibration standard. ( 24287422 )
2014
28
Bladder tumours in children: An interesting case report of TCC with a partial inverted growth pattern. ( 25308591 )
2014
29
Total ureterectomy and ileal ureteric replacement for TCC ureter in a solitary kidney. ( 25553174 )
2014
30
Types of HLA in the bladder transitional cell carcinoma (TCC). ( 23348175 )
2013
31
Risk assessment of land-applied biosolids-borne triclocarban (TCC). ( 23183124 )
2013
32
Gold(III)-catalyzed three-component coupling reaction (TCC) selective toward furans. ( 23687935 )
2013
33
F-actin asymmetry and the endoplasmic reticulum-associated TCC-1 protein contribute to stereotypic spindle movements in the Caenorhabditis elegans embryo. ( 23699393 )
2013
34
Effectiveness and cost-effectiveness of transmural collaborative care with consultation letter (TCCCL) and duloxetine for major depressive disorder (MDD) and (sub)chronic pain in collaboration with primary care: design of a randomized placebo-controlled multi-Centre trial: TCC:PAINDIP. ( 23705849 )
2013
35
TCC: an R package for comparing tag count data with robust normalization strategies. ( 23837715 )
2013
36
The management of transitional cell carcinoma (TCC) in a European regional renal transplant population. ( 22243691 )
2012
37
Surgical management for upper urinary tract transitional cell carcinoma (UUT-TCC): a systematic review. ( 22759317 )
2012
38
Time to define an international standard of postoperative care for resected upper urinary tract transitional cell carcinoma (TCC) - opening of the peri-operative chemotherapy versus surveillance in upper tract urothelial cancer (POUT) Trial. ( 22882350 )
2012
39
Mixed epithelial and stromal tumor of the kidney (MEST) simulating an upper tract TCC. ( 22396379 )
2012
40
Ureteric angioplasty balloon placement to increase localised dosage of BCG for renal pelvis TCC. ( 22558818 )
2012
41
U.S. Special Operations Command tactical trauma protocols, tactical medical emergency protocols, and canine tactical combat casualty care (C-TCC) for special operations advanced tactical practitioners. ( 25232568 )
2012
42
Radiosensitivity and capacity for radiation-induced sublethal damage repair of canine transitional cell carcinoma (TCC) cell lines. ( 21848626 )
2011
43
Toxicity and bioaccumulation of biosolids-borne triclocarban (TCC) in terrestrial organisms. ( 21035164 )
2011
44
Lymph node dissection during laparoscopic (LRC) and open (ORC) radical cystectomy due to muscle invasive bladder urothelial cancer (pT2-3, TCC). ( 23255970 )
2011
45
Radical and sparing surgical treatment of patients with upper urinary tract transitional cell carcinomas (UUT -TCC) - preliminary results. ( 24578867 )
2011
46
Photodynamic diagnosis (PDD) for upper urinary tract transitional cell carcinoma (UT-TCC): evolution of a new technique. ( 20230992 )
2010
47
Measured physicochemical characteristics and biosolids-borne concentrations of the antimicrobial Triclocarban (TCC). ( 20385403 )
2010
48
Mogoltacin enhances vincristine cytotoxicity in human transitional cell carcinoma (TCC) cell line. ( 18707855 )
2009
49
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. ( 19105190 )
2009
50
Nuclear matrix protein 22 as adjunct to urine cytology and cystoscopy in follow-up of superficial TCC of urinary bladder. ( 19168205 )
2009

Variations for Tarsal-Carpal Coalition Syndrome

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

76
# 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:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

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 cartilage development GO:0051216 8.62 CD44 NOG

Sources for Tarsal-Carpal Coalition Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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