Details of Disease

Disease Name

Tarsal-carpal coalition syndrome

TCC; synostosis of talus and calcaneus with short stature; tarsal carpal coalition syndrome; tarsal-carpal coalition syndrome

Definition

Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.

Disease Hierarchy

DIS3LICD: Congenital limb malformation

DISEOUIO: NOG-related symphalangism spectrum disorder

DISY90L2: Tarsal-carpal coalition syndrome

Disease Identifiers

MONDO ID

MONDO_0008521

MESH ID

C536943

UMLS CUI

C1861305

OMIM ID

186570

MedGen ID

348322

Orphanet ID

1412

SNOMED CT ID

702312009

General Information of Disease (ID: DISY90L2)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRSS8	TTT4N0Q	Disputed	Altered Expression	[1]
CA2	TTANPDJ	Strong	Biomarker	[2]
GSTA1	TT4P8DE	Strong	Altered Expression	[3]
HCRTR2	TT9N02I	Strong	Biomarker	[4]
PAX5	TTA4REJ	Strong	Altered Expression	[5]
SLC12A6	TT8DFHE	Strong	Genetic Variation	[6]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A20	DTQOUM4	Strong	Genetic Variation	[7]
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This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GSTO2	DEHMPZR	moderate	Genetic Variation	[8]
CYB5R3	DE4A3BL	Strong	Biomarker	[9]
UPP2	DEBQ2WU	Strong	Altered Expression	[10]
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This Disease Is Related to 39 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEURL1	OT2C4P70	Limited	Altered Expression	[11]
KCNH4	OTHJ8WTU	Disputed	Altered Expression	[12]
KCNH8	OT3I5FLB	Disputed	Altered Expression	[12]
MZF1	OTMVZCPW	Disputed	Altered Expression	[12]
NR2F1	OTGWZWYL	Disputed	Biomarker	[13]
NOG	OTGRHHPG	Supportive	Autosomal dominant	[14]
APAF1	OTJWIVY0	moderate	Altered Expression	[15]
KRT20	OT4RB40L	moderate	Altered Expression	[16]
BLCAP	OTGJVU0C	Strong	Altered Expression	[17]
BRINP1	OTEUVSCP	Strong	Genetic Variation	[18]
CAGE1	OTF3HI3N	Strong	Posttranslational Modification	[19]
CCL28	OTY6XNQ7	Strong	Biomarker	[20]
CD200R1	OT65Q9M6	Strong	Biomarker	[4]
CEP55	OTGSG2PA	Strong	Altered Expression	[21]
CHD6	OTEHW1U2	Strong	Biomarker	[22]
CIB2	OT9ZJX1I	Strong	Altered Expression	[23]
CTAGE1	OTWM7KSJ	Strong	Genetic Variation	[24]
DAPK1	OTNCNUCO	Strong	Posttranslational Modification	[25]
DGCR8	OT62LXE4	Strong	Biomarker	[26]
DLGAP5	OTWCN39U	Strong	Altered Expression	[27]
DOC2A	OT5G9V94	Strong	Altered Expression	[28]
ELK1	OTH9MXD6	Strong	Altered Expression	[12]
FEZ1	OTWCXPRE	Strong	Biomarker	[29]
HERPUD1	OT9EROL6	Strong	Biomarker	[30]
IFT122	OTSK3OAD	Strong	Biomarker	[31]
LCN1	OT8BWXTV	Strong	Biomarker	[32]
LZTS1	OTXXL864	Strong	Biomarker	[29]
MAGEB4	OTZEFR8N	Strong	Biomarker	[33]
ODF4	OTP9AMYG	Strong	Biomarker	[33]
PRAP1	OT48QD82	Strong	Altered Expression	[34]
PRLHR	OT1THGOP	Strong	Genetic Variation	[35]
REEP5	OTZU4TJI	Strong	Biomarker	[36]
SFXN1	OTL66767	Strong	Biomarker	[37]
SLC12A9	OTR7VRAK	Strong	Biomarker	[38]
SPAST	OTIF3AJI	Strong	Genetic Variation	[39]
SPG11	OTZ7LJX4	Strong	Biomarker	[40]
TMOD4	OTXLGJ4R	Strong	Biomarker	[41]
ELAVL3	OTI2VI8B	Definitive	Altered Expression	[42]
FLOT1	OT0JPPJZ	Definitive	Altered Expression	[43]
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⏷ Show the Full List of 39 DOT(s)

References

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2	Molecular subclassification of kidney tumors and the discovery of new diagnostic markers.Oncogene. 2003 Oct 2;22(43):6810-8. doi: 10.1038/sj.onc.1206869.
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9	Inhibition of tumorigenicity and metastasis of human bladder cancer growing in athymic mice by interferon-beta gene therapy results partially from various antiangiogenic effects including endothelial cell apoptosis.Clin Cancer Res. 2002 Apr;8(4):1258-70.
10	Expression of transitional cell-specific genes, uroplakin Ia and II, in bladder cancer: detection of circulating cancer cells in the peripheral blood of metastatic patients.Int J Urol. 1999 Jun;6(6):286-92. doi: 10.1046/j.1442-2042.1999.00064.x.
11	HER2/neu gene amplification and protein overexpression in G3 pT2 transitional cell carcinoma of the bladder: a role for anti-HER2 therapy?.Eur J Cancer. 2004 Jan;40(1):56-63. doi: 10.1016/j.ejca.2003.08.027.
12	Expression of protein kinase C and the MZF-1 and elk-1 transcription factors in human bladder transitional cell carcinoma cells.Chin J Physiol. 2012 Apr 30;55(2):75-81. doi: 10.4077/CJP.2012.AMM121.
13	Expression of chicken ovalbumin upstream promoter-transcription factor I (COUP-TFI) in bladder transitional cell carcinoma.Urology. 2008 Oct;72(4):921-6. doi: 10.1016/j.urology.2008.02.019. Epub 2008 Apr 2.
14	Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. Genet Med. 2001 Sep-Oct;3(5):349-53. doi: 10.1097/00125817-200109000-00004.
15	EZH2 polycomb transcriptional repressor expression correlates with methylation of the APAF-1 gene in superficial transitional cell carcinoma of the bladder.Tumour Biol. 2007;28(3):151-7. doi: 10.1159/000103380. Epub 2007 Jun 1.
16	Urinary cytokeratin 20 mRNA expression has the potential to predict recurrence in superficial transitional cell carcinoma of the bladder.Cancer Lett. 2007 Jan 8;245(1-2):121-6. doi: 10.1016/j.canlet.2005.12.038. Epub 2006 Feb 13.
17	bc10: A novel human bladder cancer-associated protein with a conserved genomic structure downregulated in invasive cancer.Int J Cancer. 2002 Apr 1;98(4):539-46. doi: 10.1002/ijc.10244.
18	Hypermethylation at 9q32-33 tumour suppressor region is age-related in normal urothelium and an early and frequent alteration in bladder cancer.Oncogene. 2001 Jan 25;20(4):531-7. doi: 10.1038/sj.onc.1204122.
19	Promoter hypermethylation of the 14-3-3 sigma, SYK and CAGE-1 genes is related to the various phenotypes of urinary bladder carcinomas and associated with progression of transitional cell carcinomas.Int J Mol Med. 2006 Oct;18(4):547-57.
20	Establishment and characterization of two human bladder cancer cell lines.Hum Cell. 1996 Mar;9(1):49-56.
21	Expression and clinical significance of Centrosomal protein 55 (CEP55) in human urinary bladder transitional cell carcinoma.Immunobiology. 2015 Jan;220(1):103-8. doi: 10.1016/j.imbio.2014.08.014. Epub 2014 Aug 21.
22	Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder.Nat Genet. 2011 Aug 7;43(9):875-8. doi: 10.1038/ng.907.
23	Multiple mechanisms downregulate CDKN1C in human bladder cancer.Int J Cancer. 2005 Apr 10;114(3):406-13. doi: 10.1002/ijc.20749.
24	Expression profile of cancer-testis genes in transitional cell carcinoma of the bladder.Urol Oncol. 2012 Nov-Dec;30(6):886-92. doi: 10.1016/j.urolonc.2010.08.017. Epub 2011 Mar 10.
25	Hypermethylation of tumor-suppressor gene CpG islands in small-cell carcinoma of the urinary bladder.Mod Pathol. 2008 Mar;21(3):355-62. doi: 10.1038/modpathol.3801012. Epub 2008 Jan 11.
26	Downregulation of Dicer, a component of the microRNA machinery, in bladder cancer.Mol Med Rep. 2012 Mar;5(3):695-9. doi: 10.3892/mmr.2011.711. Epub 2011 Dec 14.
27	Potential molecular marker for detecting transitional cell carcinoma.Urology. 2002 Jul;60(1):181-5. doi: 10.1016/s0090-4295(02)01672-2.
28	Synergistic induction of DOC-2/DAB2 gene expression in transitional cell carcinoma in the presence of GATA6 and histone deacetylase inhibitor.Cancer Res. 2005 Jul 15;65(14):6089-96. doi: 10.1158/0008-5472.CAN-04-3672.
29	FEZ1/LZTS1 is down-regulated in high-grade bladder cancer, and its restoration suppresses tumorigenicity in transitional cell carcinoma cells.Am J Pathol. 2002 Apr;160(4):1345-52. doi: 10.1016/S0002-9440(10)62561-8.
30	Prognostic and functional significance of thromboxane synthase gene overexpression in invasive bladder cancer.Cancer Res. 2005 Dec 15;65(24):11581-7. doi: 10.1158/0008-5472.CAN-05-1622.
31	NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6.
32	DNA damage in human transitional cell carcinoma cells after exposure to the proximate metabolite of the bladder carcinogen 4-aminobiphenyl.Environ Mol Mutagen. 2001;38(1):1-11. doi: 10.1002/em.1044.
33	Cancer-Testis Antigens as New Candidate Diagnostic Biomarkers for Transitional Cell Carcinoma of Bladder.Pathol Oncol Res. 2019 Jan;25(1):191-199. doi: 10.1007/s12253-017-0313-4. Epub 2017 Oct 20.
34	The expression of urokinase-related genes in superficial and invasive transitional cell carcinoma.Int J Oncol. 1998 Jan;12(1):175-80. doi: 10.3892/ijo.12.1.175.
35	Cytology, flow cytometry, image analysis, and interphase cytogenetics by fluorescence in situ hybridization in the diagnosis of transitional cell carcinoma in bladder washes: a comparative study.Diagn Cytopathol. 1995 Oct;13(3):214-23; discussion 224. doi: 10.1002/dc.2840130307.
36	Microsatellite instability in urothelial carcinoma of the upper urinary tract.J Urol. 2003 Oct;170(4 Pt 1):1151-4. doi: 10.1097/01.ju.0000086551.22844.cd.
37	Expanding an expanded genome: long-read sequencing of Trypanosoma cruzi.Microb Genom. 2018 May;4(5):e000177. doi: 10.1099/mgen.0.000177. Epub 2018 Apr 30.
38	Molecular and kinetic features of transitional cell carcinomas of the bladder: biological and clinical implications.Virchows Arch. 2001 Mar;438(3):289-97. doi: 10.1007/s004280000289.
39	Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.J Neurol Sci. 2017 Dec 15;383:18-25. doi: 10.1016/j.jns.2017.10.010. Epub 2017 Oct 10.
40	A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene.Int J Neurosci. 2019 Dec;129(12):1198-1202. doi: 10.1080/00207454.2019.1653293. Epub 2019 Aug 19.
41	Gelsolin-like actin-capping protein has prognostic value and promotes tumorigenesis and epithelial-mesenchymal transition via the Hippo signaling pathway in human bladder cancer.Ther Adv Med Oncol. 2019 Apr 29;11:1758835919841235. doi: 10.1177/1758835919841235. eCollection 2019.
42	Long noncoding RNA HOTAIR is a prognostic biomarker and inhibits chemosensitivity to doxorubicin in bladder transitional cell carcinoma.Cancer Chemother Pharmacol. 2016 Mar;77(3):507-13. doi: 10.1007/s00280-016-2964-3. Epub 2016 Jan 19.
43	Overexpression of flotillin-1 is involved in proliferation and recurrence of bladder transitional cell carcinoma.Oncol Rep. 2014 Aug;32(2):748-54. doi: 10.3892/or.2014.3221. Epub 2014 May 29.