MMRCS3
MCID: MSM024
MIFTS: 20

Mismatch Repair Cancer Syndrome 3 (MMRCS3)

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome 3

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome 3:

Name: Mismatch Repair Cancer Syndrome 3 57 29 6
Mmrcs3 57

Characteristics:

OMIM®:

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


HPO:

31
mismatch repair cancer syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 619097
OMIM Phenotypic Series 57 PS276300

Summaries for Mismatch Repair Cancer Syndrome 3

OMIM® : 57 Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300). (619097) (Updated 05-Apr-2021)

MalaCards based summary : Mismatch Repair Cancer Syndrome 3, is also known as mmrcs3. An important gene associated with Mismatch Repair Cancer Syndrome 3 is MSH6 (MutS Homolog 6). Affiliated tissues include colon, and related phenotypes are colon cancer and multiple cafe-au-lait spots

Related Diseases for Mismatch Repair Cancer Syndrome 3

Symptoms & Phenotypes for Mismatch Repair Cancer Syndrome 3

Human phenotypes related to Mismatch Repair Cancer Syndrome 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 very rare (1%) HP:0003003
2 multiple cafe-au-lait spots 31 very rare (1%) HP:0007565
3 astrocytoma 31 very rare (1%) HP:0009592
4 lisch nodules 31 very rare (1%) HP:0009737
5 t-cell lymphoma 31 very rare (1%) HP:0012190
6 glioblastoma multiforme 31 very rare (1%) HP:0012174
7 axillary freckling 31 very rare (1%) HP:0000997
8 neoplasm of the rectum 31 HP:0100743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
leukemia
lymphoma
astrocytoma
medulloblastoma
glioblastoma
more
Skin Nails Hair Skin:
axillary freckling
cafe-au-lait spots

Immunology:
immunoglobulin class switch recombination deficiency

Head And Neck Eyes:
lisch nodules

Abdomen Gastrointestinal:
adenomatous colonic polyps

Clinical features from OMIM®:

619097 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome 3

Search Clinical Trials , NIH Clinical Center for Mismatch Repair Cancer Syndrome 3

Genetic Tests for Mismatch Repair Cancer Syndrome 3

Genetic tests related to Mismatch Repair Cancer Syndrome 3:

# Genetic test Affiliating Genes
1 Mismatch Repair Cancer Syndrome 3 29 MSH6

Anatomical Context for Mismatch Repair Cancer Syndrome 3

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome 3:

40
Colon

Publications for Mismatch Repair Cancer Syndrome 3

Articles related to Mismatch Repair Cancer Syndrome 3:

# Title Authors PMID Year
1
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 57 6
17557300 2007
2
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 6 57
16283678 2005
3
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 6 57
15340263 2004
4
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 57
17440981 2007
5
A homozygous mutation in MSH6 causes Turcot syndrome. 57
16000562 2005

Variations for Mismatch Repair Cancer Syndrome 3

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH6 NM_001281492.1(MSH6):c.2996_2998del (p.Cys999_Val1000delinsLeu) Deletion Pathogenic 89379 rs587776705 GRCh37: 2:48030772-48030774
GRCh38: 2:47803633-47803635
2 MSH6 NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) SNV Pathogenic 89331 rs587779252 GRCh37: 2:48028142-48028142
GRCh38: 2:47801003-47801003
3 MSH6 NM_000179.3(MSH6):c.3261del (p.Phe1088fs) Deletion Pathogenic 89363 rs267608078 GRCh37: 2:48030640-48030640
GRCh38: 2:47803501-47803501

Expression for Mismatch Repair Cancer Syndrome 3

Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome 3.

Pathways for Mismatch Repair Cancer Syndrome 3

GO Terms for Mismatch Repair Cancer Syndrome 3

Sources for Mismatch Repair Cancer Syndrome 3

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
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