M7MLS2
MCID: MNS019
MIFTS: 20

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 (M7MLS2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

MalaCards integrated aliases for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

Name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 57 29 6
M7mls2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype and severity
onset usually in early childhood

Inheritance:
autosomal dominant


HPO:

31
monosomy 7 myelodysplasia and leukemia syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

OMIM® : 57 Monosomy 7 myelodysplasia and leukemia syndrome-2 (M7MLS2) is an autosomal dominant hematologic disorder characterized by onset of pancytopenia, acute myelogenous leukemia (AML), and variable features of myelodysplastic syndrome (MDS) usually in the first decades of life. Bone marrow cells show monosomy 7. Germline mutations in the SAMD9 gene, located on chromosome 7q, have a gain-of-function suppressive effect on the cell cycle, resulting in decreased cellular proliferation. It is hypothesized that this germline defect leads to selective pressure favoring somatic loss of the chromosome 7 harboring the mutant allele (adaptation by aneuploidy) (summary by Wong et al., 2018). For a discussion of genetic heterogeneity of monosomy 7 myelodysplasia and leukemia syndrome, see 252270. (619041) (Updated 05-Apr-2021)

MalaCards based summary : Monosomy 7 Myelodysplasia and Leukemia Syndrome 2, is also known as m7mls2. An important gene associated with Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 is SAMD9 (Sterile Alpha Motif Domain Containing 9). Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are anemia and thrombocytopenia

Related Diseases for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Diseases in the Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 family:

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Symptoms & Phenotypes for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Human phenotypes related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 thrombocytopenia 31 HP:0001873
3 myelodysplasia 31 HP:0002863
4 neutropenia 31 HP:0001875
5 bone marrow hypocellularity 31 HP:0005528
6 pancytopenia 31 HP:0001876
7 increased mean corpuscular volume 31 HP:0005518
8 acute myeloid leukemia 31 HP:0004808
9 megakaryocyte dysplasia 31 HP:0031689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia
megakaryocyte dysplasia
more
Neoplasia:
acute myelogenous leukemia (in some patients)

Laboratory Abnormalities:
monosomy 7 in bone marrow cells

Clinical features from OMIM®:

619041 (Updated 05-Apr-2021)

Drugs & Therapeutics for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Search Clinical Trials , NIH Clinical Center for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Genetic Tests for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Genetic tests related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

# Genetic test Affiliating Genes
1 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 29 SAMD9

Anatomical Context for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

MalaCards organs/tissues related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

40
Bone Marrow, Bone, Myeloid

Publications for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Articles related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

# Title Authors PMID Year
1
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. 57 6
28487541 2017
2
Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. 57 6
2569483 1989
3
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. 6
30046003 2018

Variations for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

ClinVar genetic disease variations for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMD9 NM_017654.4(SAMD9):c.3406G>C (p.Glu1136Gln) SNV Pathogenic 988626 GRCh37: 7:92732005-92732005
GRCh38: 7:93102692-93102692
2 SAMD9 NM_017654.4(SAMD9):c.2026A>G (p.Lys676Glu) SNV Pathogenic 988627 GRCh37: 7:92733385-92733385
GRCh38: 7:93104072-93104072

Expression for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Search GEO for disease gene expression data for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2.

Pathways for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

GO Terms for Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Sources for Monosomy 7 Myelodysplasia and Leukemia 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
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