KEGG DISEASE: Esophageal cancer

DISEASE: Esophageal cancer

Entry

H00017                      Disease

Name

Esophageal cancer

Description

Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC). ESCC is the most frequent histological subtype in esophageal cancer, although the incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others.

Category

Cancer

Brite

Pathway

hsa04110

Cell cycle

hsa04218

Cellular senescence

hsa04517

IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

EGFR (overexpression) [HSA:1956] [KO:K04361]
PTGS2 (overexpression) [HSA:5743] [KO:K11987]
NOS2 (increased expression) [HSA:4843] [KO:K13241]
FAS (increased expression) [HSA:355] [KO:K04390]
CCND1 (amplification) [HSA:595] [KO:K04503]
TP53 [HSA:7157] [KO:K04451]
CDKN2A [HSA:1029] [KO:K06621]
RB1 [HSA:5925] [KO:K06618]
APC [HSA:324] [KO:K02085]
DCC [HSA:1630] [KO:K06765]
LZTS1 [HSA:11178] [KO:K26460]
RNF6 [HSA:6049] [KO:K22753]
TGFBR2 [HSA:7048] [KO:K04388]
WWOX [HSA:51741] [KO:K19329]

Drug

Capecitabine [DR:D01223]
Floxuridine [DR:D04197]
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574] (PD-L1 expressed)
Pembrolizumab and berahyaluronidase alfa [DR:D13168] (express PD-L1)
Tislelizumab [DR:D11487]
Porfimer sodium [DR:D03327]

Other DBs

ICD-11:

2B70

MeSH:

D004938

OMIM:

133239

Reference

PMID:15622457 (EGFR, TP53, PTGS2, NOS2, CCND1, CDKN2A, RB1)

Authors

Kuwano H, Kato H, Miyazaki T, Fukuchi M, Masuda N, Nakajima M, Fukai Y, Sohda M, Kimura H, Faried A.

Title

Genetic alterations in esophageal cancer.

Journal

Surg Today 35:7-18 (2005)
DOI:10.1007/s00595-004-2885-3

Reference

PMID:12951586 (APC, CDKN2A, NOS2, RB1, PTGS2, TP53, RB1, EGFR, FAS)

Authors

Wild CP, Hardie LJ.

Title

Reflux, Barrett's oesophagus and adenocarcinoma: burning questions.

Journal

Nat Rev Cancer 3:676-84 (2003)
DOI:10.1038/nrc1166

Reference

PMID:15914317 (CCND1, TP53, RB1, CDKN2A, APC, WWOX, FAS)

Authors

McCabe ML, Dlamini Z.

Title

The molecular mechanisms of oesophageal cancer.

Journal

Int Immunopharmacol 5:1113-30 (2005)
DOI:10.1016/j.intimp.2004.11.017

Reference

PMID:8187090 (DCC)

Authors

Miyake S, Nagai K, Yoshino K, Oto M, Endo M, Yuasa Y

Title

Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis.

Journal

Cancer Res 54:3007-10 (1994)

Reference

PMID:11504921 (LZTS1)

Authors

Ishii H, Vecchione A, Murakumo Y, Baldassarre G, Numata S, Trapasso F, Alder H, Baffa R, Croce CM

Title

FEZ1/LZTS1 gene at 8p22 suppresses cancer cell growth and regulates mitosis.

Journal

Proc Natl Acad Sci U S A 98:10374-9 (2001)
DOI:10.1073/pnas.181222898

Reference

PMID:12154016 (RNF6)

Authors

Lo HS, Hu N, Gere S, Lu N, Su H, Goldstein AM, Taylor PR, Lee MP

Title

Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma.

Journal

Cancer Res 62:4191-3 (2002)

Reference

PMID:10789724 (TGFBR2)

Authors

Tanaka S, Mori M, Mafune K, Ohno S, Sugimachi K

Title

A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

Journal

Br J Cancer 82:1557-60 (2000)
DOI:10.1054/bjoc.1999.1178

Reference

PMID:11956080 (WWOX)

Authors

Kuroki T, Trapasso F, Shiraishi T, Alder H, Mimori K, Mori M, Croce CM

Title

Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma.

Journal

Cancer Res 62:2258-60 (2002)

LinkDB

» Japanese version

DISEASE: Colorectal cancer

Entry

H00020                      Disease

Name

Colorectal cancer

Subgroup

Familial adenomatous polyposis (FAP) [DS:H01025]
Hereditary nonpolyposis colorectal cancer (HNPCC) [DS:H02565]
Polymerase proofreading-associated polyposis (PPAP) [DS:H02568]

Supergrp

Solid tumor [DS:H02421]

Description

Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in sporadic CRC progression. The first, known as chromosomal instability (CIN), results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch repair genes MLH1 and/or MSH2 by hypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour suppressor gene APC on chromosome 5q in FAP, mutated DNA mismatch repair genes in HNPCC).

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of digestive organs
     Malignant neoplasms of intestine
      Malignant neoplasms of large intestine
       2B90  Malignant neoplasms of colon
        H00020  Colorectal cancer
       2B91  Malignant neoplasms of rectosigmoid junction
        H00020  Colorectal cancer
       2B92  Malignant neoplasms of rectum
        H00020  Colorectal cancer
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06503  Mismatch repair
   H00020  Colorectal cancer
Signal transduction
  nt06526  MAPK signaling
   H00020  Colorectal cancer
  nt06505  WNT signaling
   H00020  Colorectal cancer
  nt06507  TGFB signaling
   H00020  Colorectal cancer
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00020  Colorectal cancer
  nt06524  Apoptosis
   H00020  Colorectal cancer
  nt06546  IgSF CAM signaling
   H00020  Colorectal cancer
Tumor markers [br08442.html]
H00020
Cancer-associated carbohydrates [br08441.html]
H00020

Disease
pathway

hsa05210

Colorectal cancer

Pathway

hsa04310

Wnt signaling pathway

hsa04350

TGF-beta signaling pathway

hsa04210

Apoptosis

hsa04517

IGSF CAM signaling

Network

nt06260 Colorectal cancer
nt06503 Mismatch repair
nt06505 WNT signaling
nt06507 TGFB signaling
nt06515 Regulation of kinetochore-microtubule interactions
nt06524 Apoptosis
nt06546 IgSF CAM signaling

Gene

(HNPCC) MLH1 [HSA:4292] [KO:K08734]
(HNPCC) MLH3 [HSA:27030] [KO:K08739]
(HNPCC) MSH2 [HSA:4436] [KO:K08735]
(HNPCC) MSH6 [HSA:2956] [KO:K08737]
(HNPCC) TGFBR2 [HSA:7048] [KO:K04388]
(FAP) APC [HSA:324] [KO:K02085]
(FAP) MSH3 [HSA:4437] [KO:K08736]
(PPAP) POLD1 [HSA:5424] [KO:K02327]
(PPAP) POLE [HSA:5426] [KO:K02324]
DCC [HSA:1630] [KO:K06765]
KRAS [HSA:3845] [KO:K07827]
GALNT12 [HSA:79695] [KO:K00710]
SMAD7 [HSA:4092] [KO:K19631]
SMAD4 [HSA:4089] [KO:K04501]
SMAD2 [HSA:4087] [KO:K04500]
BAX [HSA:581] [KO:K02159]
AXIN2 [HSA:8313] [KO:K04385]
BRAF [HSA:673] [KO:K04365]
CCND1 [HSA:595] [KO:K04503]
CHEK2 [HSA:11200] [KO:K06641]
CTNNB1 [HSA:1499] [KO:K02105]
FLCN [HSA:201163] [KO:K09594]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
BUB1 [HSA:699] [KO:K02178]
BUB1B [HSA:701] [KO:K06637]
AURKA [HSA:6790] [KO:K11481]
DLC1 [HSA:10395] [KO:K20632]
MCC [HSA:4163] [KO:K26734]
PTPN12 [HSA:5782] [KO:K18024]
AKT1 [HSA:207] [KO:K04456]
EP300 [HSA:2033] [KO:K04498]
FGFR3 [HSA:2261] [KO:K05094]
PDGFRL [HSA:5157] [KO:K25716]
PTPRJ [HSA:5795] [KO:K05698]
RAD54B [HSA:25788] [KO:K10877]
SRC [HSA:6714] [KO:K05704]
EGF (overexpression) [HSA:1950] [KO:K04357]
TGFA (overexpression) [HSA:7039] [KO:K08774]
EREG (overexpression) [HSA:2069] [KO:K09784]
AREG (overexpression) [HSA:374] [KO:K09782]

Drug

Capecitabine [DR:D01223]
Floxuridine [DR:D04197]
Trifluridine and tipiracil hydrochloride [DR:D10526]
Irinotecan hydrochloride [DR:D01061]
Encorafenib [DR:D11053] (BRAF mutation positive)
Fruquintinib [DR:D11977]
Regorafenib hydrate [DR:D10137]
Cetuximab [DR:D03455] (BRAF mutation positive)
Panitumumab [DR:D05350] (KRAS and NRAS wild type)
Nivolumab [DR:D10316] (MSI-H or dMMR)
Pembrolizumab [DR:D10574] (MSI-H)
Pembrolizumab and berahyaluronidase alfa [DR:D13168] (MSI-H or dMMR)
Bevacizumab [DR:D06409]
Ramucirumab [DR:D09371]
Ipilimumab [DR:D04603] (MSI-H or dMMR)
Oxaliplatin [DR:D01790]
Aflibercept [DR:D09574]
Adagrasib [DR:D12301] (KRAS G12C mutated)
Leucovorin calcium [DR:D01211]
Levoleucovorin calcium [DR:D04715]
Calcium levofolinate hydrate [DR:D11555]
Sodium levofolinate [DR:D11394]

Other DBs

ICD-11:

2B90 2B91 2B92

MeSH:

D015179

OMIM:

114500 608812 612229

Reference

PMID:11477132

Authors

Houlston RS.

Title

What we could do now: molecular pathology of colorectal cancer.

Journal

Mol Pathol 54:206-14 (2001)
DOI:10.1136/mp.54.4.206

Reference

PMID:12621137

Authors

Lynch HT, de la Chapelle A.

Title

Hereditary colorectal cancer.

Journal

N Engl J Med 348:919-32 (2003)
DOI:10.1056/NEJMra012242

Reference

PMID:15000146 (TP53, APC, MSH3, MSH6, CTNNB1, KRAS, TGFBR2, BAX)

Authors

Grady WM.

Title

Genomic instability and colon cancer.

Journal

Cancer Metastasis Rev 23:11-27 (2004)
DOI:10.1023/A:1025861527711

Reference

PMID:16555243 (DCC, SMAD2/4, TP53, APC, MLH1, MSH2, MSH6, CTNNB1, KRAS, TGFBR2, BAX)

Authors

Soreide K, Janssen EA, Soiland H, Korner H, Baak JP.

Title

Microsatellite instability in colorectal cancer.

Journal

Br J Surg 93:395-406 (2006)
DOI:10.1002/bjs.5328

Reference

PMID:15310786 (DCC)

Authors

Mehlen P, Fearon ER.

Title

Role of the dependence receptor DCC in colorectal cancer pathogenesis.

Journal

J Clin Oncol 22:3420-8 (2004)
DOI:10.1200/JCO.2004.02.019

Reference

PMID:19617566 (GALNT12)

Authors

Guda K, Moinova H, He J, Jamison O, Ravi L, Natale L, Lutterbaugh J, Lawrence E, Lewis S, Willson JK, Lowe JB, Wiesner GL, Parmigiani G, Barnholtz-Sloan J, Dawson DW, Velculescu VE, Kinzler KW, Papadopoulos N, Vogelstein B, Willis J, Gerken TA, Markowitz SD

Title

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

Journal

Proc Natl Acad Sci U S A 106:12921-5 (2009)
DOI:10.1073/pnas.0901454106

Reference

PMID:17934461 (SNAD7)

Authors

Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS

Title

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

Journal

Nat Genet 39:1315-7 (2007)
DOI:10.1038/ng.2007.18

Reference

PMID:26133394 (POLE, POLD1)

Authors

Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L

Title

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Journal

Genet Med 18:325-32 (2016)
DOI:10.1038/gim.2015.75

Reference

PMID:7912978

Authors

Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H

Title

Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues.

Journal

Pathol Int 44:124-30 (1994)
DOI:10.1111/j.1440-1827.1994.tb01696.x

Reference

PMID:11017067 (AXIN2)

Authors

Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN

Title

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.

Journal

Nat Genet 26:146-7 (2000)
DOI:10.1038/79859

Reference

PMID:12198537 (BRAF, KRAS)

Authors

Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE

Title

Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.

Journal

Nature 418:934 (2002)
DOI:10.1038/418934a

Reference

PMID:10667569 (CCND1)

Authors

Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML

Title

Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer.

Journal

Cancer Res 60:249-52 (2000)

Reference

PMID:12690581 (CHEK2)

Authors

Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M

Title

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

Journal

Am J Hum Genet 72:1308-14 (2003)
DOI:10.1086/375121

Reference

PMID:12843323 (FLCN)

Authors

Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT

Title

Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.

Journal

J Med Genet 40:511-5 (2003)
DOI:10.1136/jmg.40.7.511

Reference

PMID:11317354 (MLH3)

Authors

Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS

Title

Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.

Journal

Hum Mutat 17:389-96 (2001)
DOI:10.1002/humu.1114

Reference

PMID:15016963 (PIK3CA)

Authors

Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE

Title

High frequency of mutations of the PIK3CA gene in human cancers.

Journal

Science 304:554 (2004)
DOI:10.1126/science.1096502

Reference

PMID:21139621 (EGF, TGFA, EREG, AREG)

Authors

Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T

Title

Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer.

Journal

Br J Cancer 103:1765-72 (2010)
DOI:10.1038/sj.bjc.6606008

Reference

PMID:9521327 (BUB1, BUB1B)

Authors

Cahill DP, Lengauer C, Yu J, Riggins GJ, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B

Title

Mutations of mitotic checkpoint genes in human cancers.

Journal

Nature 392:300-3 (1998)
DOI:10.1038/32688

Reference

PMID:12881723 (AURKA)

Authors

Ewart-Toland A, Briassouli P, de Koning JP, Mao JH, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BA, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A

Title

Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human.

Journal

Nat Genet 34:403-12 (2003)
DOI:10.1038/ng1220

Reference

PMID:10649492 (DLC1)

Authors

Wilson PJ, McGlinn E, Marsh A, Evans T, Arnold J, Wright K, Biden K, Young J, Wainwright B, Wicking C, Chenevix-Trench G

Title

Sequence variants of DLC1 in colorectal and ovarian tumours.

Journal

Hum Mutat 15:156-65 (2000)
DOI:10.1002/(SICI)1098-1004(200002)15:2<156::AID-HUMU4>3.0.CO;2-4

Reference

PMID:1848370 (MCC)

Authors

Kinzler KW, Nilbert MC, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hamilton SR, Hedge P, Markham A, et al.

Title

Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers.

Journal

Science 251:1366-70 (1991)
DOI:10.1126/science.1848370

Reference

PMID:7509295 (PTPN12)

Authors

Takekawa M, Itoh F, Hinoda Y, Adachi M, Ariyama T, Inazawa J, Imai K, Yachi A

Title

Chromosomal localization of the protein tyrosine phosphatase G1 gene and characterization of the aberrant transcripts in human colon cancer cells.

Journal

FEBS Lett 339:222-8 (1994)
DOI:10.1016/0014-5793(94)80420-6

Reference

PMID:30731403 (PTPN12)

Authors

Shen N, Li L, Xu W, Tian J, Yang Y, Zhu Y, Gong Y, Ke J, Gong J, Chang J, Zhong R, Miao X

Title

A missense variant in PTPN12 associated with the risk of colorectal cancer by modifying Ras/MEK/ERK signaling.

Journal

Cancer Epidemiol 59:109-114 (2019)
DOI:10.1016/j.canep.2019.01.013

Reference

PMID:17611497 (AKT1)

Authors

Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE

Title

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.

Journal

Nature 448:439-44 (2007)
DOI:10.1038/nature05933

Reference

PMID:10700188 (EP300)

Authors

Gayther SA, Batley SJ, Linger L, Bannister A, Thorpe K, Chin SF, Daigo Y, Russell P, Wilson A, Sowter HM, Delhanty JD, Ponder BA, Kouzarides T, Caldas C

Title

Mutations truncating the EP300 acetylase in human cancers.

Journal

Nat Genet 24:300-3 (2000)
DOI:10.1038/73536

Reference

PMID:11325814 (FGFR3)

Authors

Jang JH, Shin KH, Park JG

Title

Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.

Journal

Cancer Res 61:3541-3 (2001)

Reference

PMID:7519877 (PDGFRL)

Authors

Fujiwara Y, Ohata H, Emi M, Okui K, Koyama K, Tsuchiya E, Nakajima T, Monden M, Mori T, Kurimasa A, et al.

Title

A 3-Mb physical map of the chromosome region 8p21.3-p22, including a 600-kb region commonly deleted in human hepatocellular carcinoma, colorectal cancer, and non-small cell lung cancer.

Journal

Genes Chromosomes Cancer 10:7-14 (1994)
DOI:10.1002/gcc.2870100103

Reference

PMID:12089527 (PTPRJ)

Authors

Ruivenkamp CA, van Wezel T, Zanon C, Stassen AP, Vlcek C, Csikos T, Klous AM, Tripodis N, Perrakis A, Boerrigter L, Groot PC, Lindeman J, Mooi WJ, Meijjer GA, Scholten G, Dauwerse H, Paces V, van Zandwijk N, van Ommen GJ, Demant P

Title

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.

Journal

Nat Genet 31:295-300 (2002)
DOI:10.1038/ng903

Reference

PMID:10362364 (RAD54B)

Authors

Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K

Title

Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer.

Journal

Oncogene 18:3422-6 (1999)
DOI:10.1038/sj.onc.1202691

Reference

PMID:9988270 (SRC)

Authors

Irby RB, Mao W, Coppola D, Kang J, Loubeau JM, Trudeau W, Karl R, Fujita DJ, Jove R, Yeatman TJ

Title

Activating SRC mutation in a subset of advanced human colon cancers.

Journal

Nat Genet 21:187-90 (1999)
DOI:10.1038/5971

LinkDB

» Japanese version

DISEASE: Congenital mirror movements

Entry

H01287                      Disease

Name

Congenital mirror movements

Description

Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A07  Certain specified movement disorder
    H01287  Congenital mirror movements
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H01287  Congenital mirror movements
  nt06546  IgSF CAM signaling
   H01287  Congenital mirror movements

Pathway

hsa04360

Axon guidance

hsa03440

Homologous recombination

hsa04517

IGSF CAM signaling

Network

nt06541 Cytoskeleton in neurons
nt06546 IgSF CAM signaling

Gene

(MRMV1) DCC [HSA:1630] [KO:K06765]
(MRMV2) RAD51A [HSA:5888] [KO:K04482]
(MRMV3) DNAL4 [HSA:10126] [KO:K10412]
(MRMV4) NTN1 [HSA:9423] [KO:K06843]

Other DBs

ICD-11:

8A07.Y

OMIM:

157600 614508 616059 618264

Reference

PMID:20431009

Authors

Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA

Title

Mutations in DCC cause congenital mirror movements.

Journal

Science 328:592 (2010)
DOI:10.1126/science.1186463

Reference

PMID:22305526

Authors

Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E

Title

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Journal

Am J Hum Genet 90:301-7 (2012)
DOI:10.1016/j.ajhg.2011.12.002

Reference

PMID:25098561

Authors

Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB

Title

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.

Journal

Hum Genet 133:1419-29 (2014)
DOI:10.1007/s00439-014-1475-8

Reference

PMID:28945198

Authors

Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D

Title

Mutations in the netrin-1 gene cause congenital mirror movements.

Journal

J Clin Invest 127:3923-3936 (2017)
DOI:10.1172/JCI95442

LinkDB

» Japanese version

DISEASE: Horizontal gaze palsy with progressive scoliosis

Entry

H02450                      Disease

Name

Horizontal gaze palsy with progressive scoliosis

Description

Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C83  Disorders of binocular movement
    H02450  Horizontal gaze palsy with progressive scoliosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H02450  Horizontal gaze palsy with progressive scoliosis
  nt06546  IgSF CAM signaling
   H02450  Horizontal gaze palsy with progressive scoliosis

Pathway

hsa04360

Axon guidance

hsa04517

IGSF CAM signaling

Network

nt06541 Cytoskeleton in neurons
nt06546 IgSF CAM signaling

Gene

(HGPPS1) ROBO3 [HSA:64221] [KO:K06755]
(HGPPS2) DCC [HSA:1630] [KO:K06765]

Other DBs

ICD-11:

9C83.00

MeSH:

C564593

OMIM:

607313 617542

Reference

PMID:16525029

Authors

Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC

Title

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Journal

J Med Genet 43:e11 (2006)
DOI:10.1136/jmg.2005.035436

Reference

PMID:28250456

Authors

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW

Title

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Journal

Nat Genet 49:606-612 (2017)
DOI:10.1038/ng.3804

LinkDB

» Japanese version

DBGET integrated database retrieval system