MMRCS2
MCID: MSM023
MIFTS: 20

Mismatch Repair Cancer Syndrome 2 (MMRCS2)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mismatch Repair Cancer Syndrome 2

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome 2:

Name: Mismatch Repair Cancer Syndrome 2 57 29 6
Mmrcs2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
mismatch repair cancer syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 619096
OMIM Phenotypic Series 57 PS276300

Summaries for Mismatch Repair Cancer Syndrome 2

OMIM® : 57 Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300). (619096) (Updated 05-Apr-2021)

MalaCards based summary : Mismatch Repair Cancer Syndrome 2, is also known as mmrcs2. An important gene associated with Mismatch Repair Cancer Syndrome 2 is MSH2 (MutS Homolog 2). Affiliated tissues include colon and brain, and related phenotypes are colon cancer and multiple cafe-au-lait spots

Related Diseases for Mismatch Repair Cancer Syndrome 2

Symptoms & Phenotypes for Mismatch Repair Cancer Syndrome 2

Human phenotypes related to Mismatch Repair Cancer Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003
2 multiple cafe-au-lait spots 31 HP:0007565
3 glioblastoma multiforme 31 HP:0012174
4 t-cell acute lymphoblastic leukemias 31 HP:0006727

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
leukemia
lymphoma
glioblastoma
colonic adenocarcinoma

Immunology:
iga deficiency

Skin Nails Hair Skin:
cafe-au-lait spots

Abdomen Gastrointestinal:
adenomatous polyps

Clinical features from OMIM®:

619096 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome 2

Search Clinical Trials , NIH Clinical Center for Mismatch Repair Cancer Syndrome 2

Genetic Tests for Mismatch Repair Cancer Syndrome 2

Genetic tests related to Mismatch Repair Cancer Syndrome 2:

# Genetic test Affiliating Genes
1 Mismatch Repair Cancer Syndrome 2 29 MSH2

Anatomical Context for Mismatch Repair Cancer Syndrome 2

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome 2:

40
Colon, Brain

Publications for Mismatch Repair Cancer Syndrome 2

Articles related to Mismatch Repair Cancer Syndrome 2:

# Title Authors PMID Year
1
A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. 57 6
16372347 2006
2
Early onset brain tumor and lymphoma in MSH2-deficient children. 6 57
12549480 2003
3
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 6 57
11809679 2002
4
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. 6
18781192 2009

Variations for Mismatch Repair Cancer Syndrome 2

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH2 NM_000251.2(MSH2):c.2006-5T>A SNV Pathogenic 90849 rs267607990 GRCh37: 2:47703501-47703501
GRCh38: 2:47476362-47476362
2 MSH2 NM_000251.2: c.(?_-125)_(1076+1_1077-1)del Deletion Pathogenic 1767 GRCh37:
GRCh38:
3 MSH2 NM_000251.2(MSH2):c.454del (p.Met152fs) Deletion Pathogenic 1768 rs63751449 GRCh37: 2:47637317-47637317
GRCh38: 2:47410178-47410178
4 MSH2 NM_000251.3(MSH2):c.1662-1G>A SNV Pathogenic 90727 rs267607970 GRCh37: 2:47698103-47698103
GRCh38: 2:47470964-47470964

Expression for Mismatch Repair Cancer Syndrome 2

Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome 2.

Pathways for Mismatch Repair Cancer Syndrome 2

GO Terms for Mismatch Repair Cancer Syndrome 2

Sources for Mismatch Repair Cancer Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....