MMRCS4
MCID: MSM025
MIFTS: 24

Mismatch Repair Cancer Syndrome 4 (MMRCS4)

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome 4

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome 4:

Name: Mismatch Repair Cancer Syndrome 4 57 29 6
Mmrcs4 57

Characteristics:

OMIM®:

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


HPO:

31
mismatch repair cancer syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mismatch Repair Cancer Syndrome 4

OMIM® : 57 Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300). (619101) (Updated 05-Apr-2021)

MalaCards based summary : Mismatch Repair Cancer Syndrome 4, is also known as mmrcs4. An important gene associated with Mismatch Repair Cancer Syndrome 4 is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component). Affiliated tissues include colon and brain, and related phenotypes are agenesis of corpus callosum and astrocytoma

Related Diseases for Mismatch Repair Cancer Syndrome 4

Symptoms & Phenotypes for Mismatch Repair Cancer Syndrome 4

Human phenotypes related to Mismatch Repair Cancer Syndrome 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 very rare (1%) HP:0001274
2 astrocytoma 31 very rare (1%) HP:0009592
3 gray matter heterotopia 31 very rare (1%) HP:0002282
4 colon cancer 31 HP:0003003
5 adenomatous colonic polyposis 31 HP:0005227
6 multiple cafe-au-lait spots 31 HP:0007565
7 non-hodgkin lymphoma 31 HP:0012539
8 glioblastoma multiforme 31 HP:0012174

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
leukemia
lymphoma
astrocytoma
neuroblastoma
glioblastoma
more
Neurologic Central Nervous System:
gray matter heterotopia
interhemispheric cyst
agenesis of the corpus callosum

Laboratory Abnormalities:
decreased iga
elevated igm
decreased igg2 and igg4

Immunology:
recurrent infections
immunoglobulin class switch recombination deficiency

Skin Nails Hair Skin:
axillary freckling
cafe-au-lait spots

Abdomen Gastrointestinal:
adenomatous colonic polyps

Clinical features from OMIM®:

619101 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome 4

Search Clinical Trials , NIH Clinical Center for Mismatch Repair Cancer Syndrome 4

Genetic Tests for Mismatch Repair Cancer Syndrome 4

Genetic tests related to Mismatch Repair Cancer Syndrome 4:

# Genetic test Affiliating Genes
1 Mismatch Repair Cancer Syndrome 4 29 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome 4

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome 4:

40
Colon, Brain

Publications for Mismatch Repair Cancer Syndrome 4

Articles related to Mismatch Repair Cancer Syndrome 4:

(show all 17)
# Title Authors PMID Year
1
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 6 57
25691505 2015
2
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. 57 6
19293170 2009
3
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. 6 57
18824584 2008
4
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 57 6
17557300 2007
5
PMS2 mutations in childhood cancer. 6 57
16507833 2006
6
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 57 6
15077197 2004
7
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 6 57
14574005 2001
8
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 6 57
10763829 2000
9
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 6
23709753 2013
10
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 57
22692065 2013
11
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. 57
19156169 2009
12
Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation. 57
18007577 2008
13
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 6
18030674 2008
14
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 57
17993636 2008
15
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 6
9488480 1998
16
The molecular basis of Turcot's syndrome. 57
7661930 1995
17
Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. 57
13839882 1959

Variations for Mismatch Repair Cancer Syndrome 4

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome 4:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMS2 NM_000535.7(PMS2):c.219T>A (p.Cys73Ter) SNV Pathogenic 9249 rs121434630 GRCh37: 7:6043634-6043634
GRCh38: 7:6004003-6004003
2 PMS2 NM_000535.6(PMS2):c.1169_1170ins20 (p.?) Insertion Pathogenic 91296 GRCh37: 7:6027226-6027227
GRCh38: 7:5987595-5987596
3 PMS2 NM_000535.7(PMS2):c.182del (p.Tyr61fs) Deletion Pathogenic 91316 rs63750793 GRCh37: 7:6043671-6043671
GRCh38: 7:6004040-6004040
4 PMS2 NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7) Deletion Pathogenic 91295 GRCh37: 7:6013174-6029430
GRCh38:
5 PMS2 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) SNV Pathogenic 192316 rs869320619 GRCh37: 7:6026394-6026394
GRCh38: 7:5986763-5986763
6 PMS2 NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) Deletion Pathogenic 91338 rs267608160 GRCh37: 7:6017300-6017303
GRCh38: 7:5977669-5977672
7 PMS2 NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) Indel Pathogenic 9244 rs1057515572 GRCh37: 7:6026664-6026665
GRCh38: 7:5987033-5987034
8 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) SNV Pathogenic 9237 rs63751466 GRCh37: 7:6017260-6017260
GRCh38: 7:5977629-5977629
9 PMS2 NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) SNV Pathogenic 9245 rs121434629 GRCh37: 7:6045549-6045549
GRCh38: 7:6005918-6005918
10 PMS2 NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) Microsatellite Pathogenic 91330 rs587779335 GRCh37: 7:6018315-6018316
GRCh38: 7:5978684-5978685
11 PMS2 NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) SNV Pathogenic 9234 rs63750871 GRCh37: 7:6042221-6042221
GRCh38: 7:6002590-6002590
12 PMS2 NM_000535.7(PMS2):c.1221del (p.Thr408fs) Deletion Pathogenic 9235 rs587776715 GRCh37: 7:6027175-6027175
GRCh38: 7:5987544-5987544

Expression for Mismatch Repair Cancer Syndrome 4

Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome 4.

Pathways for Mismatch Repair Cancer Syndrome 4

GO Terms for Mismatch Repair Cancer Syndrome 4

Sources for Mismatch Repair Cancer Syndrome 4

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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