Details of Disease

General Information of Disease (ID: DISKEU0B)

• Disease Name: Marinesco-Sjogren syndrome
• Synonyms: Marinesco-Sjogren-Garland syndrome; Marinesco-Sjgren syndrome; Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism; Marinesco-Sjogren syndrome-myopathy; MSS; oligophrenic cerebellolenticular degeneration; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration; Marinesco-Sjogren syndrome; Marshall Smith Syndrome; Garland-Moorhouse syndrome
• Definition: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISY8J7U: Autosomal recessive degenerative and progressive cerebellar ataxia
  DISKEU0B: Marinesco-Sjogren syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009567
  MESH ID: D013132
  UMLS CUI: C0024814
  OMIM ID: 248800
  MedGen ID: 6222
  Orphanet ID: 559
  SNOMED CT ID: 80734006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK3	TT79U1M	Limited	Biomarker	[1]
CSNK2A1	TTER6YH	Strong	Biomarker	[2]
PMS1	TTX1ISF	Strong	Genetic Variation	[3]
RNF43	TTD91BL	Strong	Biomarker	[4]
TIGIT	TTWNL74	Strong	Altered Expression	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NDUFS7	DEIW03B	Strong	Biomarker	[6]

This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CARD11	OTRCTLYC	Limited	Biomarker	[2]
CNOT7	OTJBKCPI	Limited	Genetic Variation	[7]
NFIX	OT1DPZAE	Limited	Genetic Variation	[8]
PMS2	OTNLWTMI	Limited	Biomarker	[9]
POLE	OTFM3MMU	Limited	Genetic Variation	[10]
RCC2	OTUJVTLS	Limited	Genetic Variation	[11]
INPP5K	OTQFLQKA	Supportive	Autosomal recessive	[12]
RAB32	OTTR4H7S	moderate	Genetic Variation	[13]
APTX	OTPAS5G8	Strong	Genetic Variation	[14]
CD8A	OTDWQJXK	Strong	Biomarker	[15]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[14]
CTDP1	OTHHFW17	Strong	Genetic Variation	[16]
CTNND2	OTYKE30Y	Strong	Biomarker	[17]
DNAJC3	OT7ROIJF	Strong	Biomarker	[18]
DUSP4	OT6WAO12	Strong	Altered Expression	[19]
IFT140	OT6KO5FH	Strong	Biomarker	[20]
MBD4	OTWR9YXE	Strong	Genetic Variation	[21]
MLH3	OT91PPBI	Strong	Genetic Variation	[22]
MSH6	OT46FP09	Strong	Altered Expression	[4]
MTUS1	OTBPALMU	Strong	Biomarker	[23]
PHF6	OT8DXI40	Strong	Genetic Variation	[4]
RAMP2	OTGQXLH5	Strong	Biomarker	[24]
RERG	OTF6MMLV	Strong	Biomarker	[24]
TCF7L1	OTTUTF0O	Strong	Biomarker	[25]
NAV3	OT97M1TR	Definitive	Genetic Variation	[26]
SIL1	OTDI85I5	Definitive	Autosomal recessive	[27]

References

• [1] Review: Protein misfolding diseases - the rare case of Marinesco-Sjgren syndrome.Neuropathol Appl Neurobiol. 2020 Jun;46(4):323-343. doi: 10.1111/nan.12588.
• [2] The NF-B signalling pathway in colorectal cancer: associations between dysregulated gene and miRNA expression.J Cancer Res Clin Oncol. 2018 Feb;144(2):269-283. doi: 10.1007/s00432-017-2548-6. Epub 2017 Nov 29.
• [3] Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatellite instability status and country of origin.Ann Oncol. 2006 Jun;17 Suppl 7:vii91-6. doi: 10.1093/annonc/mdl959.
• [4] The co-regulatory networks of tumor suppressor genes, oncogenes, and miRNAs in colorectal cancer.Genes Chromosomes Cancer. 2017 Nov;56(11):769-787. doi: 10.1002/gcc.22481. Epub 2017 Jul 30.
• [5] Cytolytic activity correlates with the mutational burden and deregulated expression of immune checkpoints in colorectal cancer.J Exp Clin Cancer Res. 2019 Aug 20;38(1):364. doi: 10.1186/s13046-019-1372-z.
• [6] Relationship between microsatellite instability, response and survival in palliative patients with colorectal cancer undergoing first-line chemotherapy.Anticancer Res. 2003 Mar-Apr;23(2C):1773-7.
• [7] Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancer.Int J Cancer. 2003 Sep 10;106(4):505-509. doi: 10.1002/ijc.11264.
• [8] Malan syndrome: Extension of genotype and phenotype spectrum.Am J Med Genet A. 2018 Dec;176(12):2896-2900. doi: 10.1002/ajmg.a.40663. Epub 2018 Dec 10.
• [9] Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.Br J Cancer. 2010 Dec 7;103(12):1840-5. doi: 10.1038/sj.bjc.6605988. Epub 2010 Nov 16.
• [10] Role of immune checkpoint inhibitors in the treatment of colorectal cancer: focus on nivolumab.Expert Opin Biol Ther. 2019 Dec;19(12):1247-1263. doi: 10.1080/14712598.2019.1680636. Epub 2019 Oct 23.
• [11] Regulator of Chromosome Condensation 2 Identifies High-Risk Patients within Both Major Phenotypes of Colorectal Cancer.Clin Cancer Res. 2015 Aug 15;21(16):3759-70. doi: 10.1158/1078-0432.CCR-14-3294. Epub 2015 Apr 24.
• [12] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.
• [13] RAB32 hypermethylation and microsatellite instability in gastric and endometrial adenocarcinomas.Int J Cancer. 2006 Aug 15;119(4):801-6. doi: 10.1002/ijc.21912.
• [14] Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
• [15] Immune Activation and Benefit From Avelumab in EBV-Positive Gastric Cancer.J Natl Cancer Inst. 2018 Mar 1;110(3):316-320. doi: 10.1093/jnci/djx213.
• [16] Genetic identity of Marinesco-Sjgren/myoglobinuria and CCFDN syndromes.Neurology. 2002 Jan 22;58(2):231-6. doi: 10.1212/wnl.58.2.231.
• [17] Instability of a dinucleotide repeat in the 3'-untranslated region (UTR) of the microsomal prostaglandin E synthase-1 (mPGES-1) gene in microsatellite instability-high (MSI-H) colorectal carcinoma.Mol Oncol. 2015 Aug;9(7):1252-8. doi: 10.1016/j.molonc.2015.01.009. Epub 2015 Mar 5.
• [18] Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am J Hum Genet. 2014 Dec 4;95(6):689-97. doi: 10.1016/j.ajhg.2014.10.013. Epub 2014 Nov 20.
• [19] Expression of the MAP kinase phosphatase DUSP4 is associated with microsatellite instability in colorectal cancer (CRC) and causes increased cell proliferation.Int J Cancer. 2013 Apr 1;132(7):1537-46. doi: 10.1002/ijc.27834. Epub 2012 Nov 23.
• [20] Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.
• [21] Microsatellite instability and MBD4 mutation in unselected colorectal cancer.Anticancer Res. 2003 Jul-Aug;23(4):3569-74.
• [22] Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.Hum Mutat. 2001 May;17(5):389-96. doi: 10.1002/humu.1114.
• [23] LOH and copy neutral LOH (cnLOH) act as alternative mechanism in sporadic colorectal cancers with chromosomal and microsatellite instability.Carcinogenesis. 2011 Apr;32(4):636-42. doi: 10.1093/carcin/bgr011. Epub 2011 Feb 4.
• [24] Identification and validation of highly frequent CpG island hypermethylation in colorectal adenomas and carcinomas.Int J Cancer. 2011 Dec 15;129(12):2855-66. doi: 10.1002/ijc.25951. Epub 2011 Apr 1.
• [25] TCF-3, 4 protein expression correlates with beta-catenin expression in MSS and MSI-H colorectal cancer from HNPCC patients but not in sporadic colorectal cancers.Int J Colorectal Dis. 2010 Aug;25(8):931-9. doi: 10.1007/s00384-010-0959-9. Epub 2010 Jun 8.
• [26] Potential role of a navigator gene NAV3 in colorectal cancer.Br J Cancer. 2012 Jan 31;106(3):517-24. doi: 10.1038/bjc.2011.553. Epub 2011 Dec 15.
• [27] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.