M7MLS1
MCID: MNS018
MIFTS: 30

Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 (M7MLS1)

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

Aliases & Classifications for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

MalaCards integrated aliases for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

Name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 57
Monosomy 7 of Bone Marrow 57 29 13 6 70
Chromosome 7q Deletion 57 20
Partial Monosomy 7q 20
7q Deletion 20
7q Monosomy 20
Deletion 7q 20
Monosomy 7q 20
M7mls1 57
Mlsm7 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 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 252270
OMIM Phenotypic Series 57 PS252270
MedGen 41 C1854978
UMLS 70 C1854978

Summaries for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

OMIM® : 57 Monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1) is an autosomal dominant hematologic disorder with highly variable manifestations. Most patients present in early childhood with pancytopenia and dyspoietic or dysplastic changes in the bone marrow. These abnormalities are almost always associated with monosomy 7 in the bone marrow. In severely affected individuals, the phenotype progresses to frank myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML). Less severely affected individuals may have transient thrombocytopenia or anemia, or have normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7. Germline mutations in the SAMD9L 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). Monosomy 7 or partial deletion of the long arm of chromosome 7 (7q-) is a frequent cytogenetic finding in the bone marrow of patients with myelodysplasia and acute myelogenous leukemia. Furthermore, monosomy 7 or 7q- is the most frequent abnormality of karyotype in cases of AML that occur after cytotoxic cancer therapy or occupational exposure to mutagens. The age distribution of de novo cases shows peaks in the first and fifth decades. Monosomy 7 is found in about 5% of de novo and 40% of secondary cases of AML. These findings suggest that loss of certain genes at this region is an important event in the development of myelodysplasia (summary by Shannon et al., 1989). (252270) (Updated 05-Apr-2021)

MalaCards based summary : Monosomy 7 Myelodysplasia and Leukemia Syndrome 1, also known as monosomy 7 of bone marrow, is related to myeloid leukemia and leukemia. An important gene associated with Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 is SAMD9L (Sterile Alpha Motif Domain Containing 9 Like). Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are acute myeloid leukemia and thrombocytopenia

GARD : 20 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

Related Diseases for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

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

Monosomy 7 Myelodysplasia and Leukemia Syndrome 2

Diseases related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 myeloid leukemia 10.2
2 leukemia 10.2
3 holoprosencephaly 10.2
4 chromosomal triplication 10.2
5 chromosome 2p duplication 10.1
6 trisomy 1q 10.1
7 down syndrome 10.1
8 myelodysplastic syndrome 10.1
9 marginal zone b-cell lymphoma 10.1
10 splenic marginal zone lymphoma 10.1
11 lymphoma 10.1
12 ring chromosome 10.0
13 alobar holoprosencephaly 10.0
14 centralopathic epilepsy 10.0
15 benign epilepsy with centrotemporal spikes 10.0
16 currarino syndrome 9.9
17 phelan-mcdermid syndrome 9.9
18 ptosis 9.9
19 meningocele 9.9
20 teratoma 9.9
21 cleft lip 9.9
22 chromosome 14q duplication 9.9
23 chromosome 19q duplication 9.9
24 chromosome 2q duplication 9.9
25 chromosome 8p duplication 9.9
26 sacrococcygeal teratoma 9.9
27 single ventricular heart 9.9
28 cleft lip/palate 9.9
29 partial duplication of the long arm of chromosome 2 9.9
30 partial duplication of the short arm of chromosome 2 9.9
31 holoprosencephaly 3 9.9
32 leiomyoma, uterine 9.9
33 split-hand/foot malformation 1 9.9
34 cryptorchidism, unilateral or bilateral 9.9
35 cystic fibrosis 9.9
36 myelofibrosis 9.9
37 pulmonic stenosis 9.9
38 leukemia, acute myeloid 9.9
39 alacrima, achalasia, and mental retardation syndrome 9.9
40 mantle cell lymphoma 9.9
41 follicular lymphoma 9.9
42 scoliosis 9.9
43 lymphoproliferative syndrome 9.9
44 childhood acute myeloid leukemia 9.9
45 chronic myelomonocytic leukemia 9.9
46 keratoconus 9.9
47 microcephaly 9.9
48 hydrocephalus 9.9
49 spastic quadriplegia 9.9
50 leiomyoma 9.9

Graphical network of the top 20 diseases related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:



Diseases related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Symptoms & Phenotypes for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Human phenotypes related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 31 very rare (1%) HP:0004808
2 thrombocytopenia 31 HP:0001873
3 myelodysplasia 31 HP:0002863
4 increased mean corpuscular volume 31 HP:0005518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia
myelodysplastic syndrome
more
Laboratory Abnormalities:
monosomy 7 in bone marrow cells

Abdomen Liver:
hepatomegaly

Immunology:
recurrent infections (in some patients)
immunodeficiency, mild (in some patients)

Neoplasia:
acute myelogenous leukemia (in some patients)

Clinical features from OMIM®:

252270 (Updated 05-Apr-2021)

Drugs & Therapeutics for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Search Clinical Trials , NIH Clinical Center for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Genetic Tests for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Genetic tests related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

# Genetic test Affiliating Genes
1 Monosomy 7 of Bone Marrow 29 SAMD9L

Anatomical Context for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

MalaCards organs/tissues related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

40
Bone Marrow, Bone, Myeloid

Publications for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Articles related to Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

(show all 23)
# Title Authors PMID Year
1
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. 6 57
30046003 2018
2
Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7. 6 57
2569483 1989
3
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. 6
28202457 2017
4
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 6
27259050 2016
5
Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies. 57
20724984 2010
6
Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. 57
20601954 2010
7
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. 57
20601953 2010
8
Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. 57
19358830 2009
9
Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. 57
11172908 2001
10
Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell. 57
10640152 2000
11
Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7. 57
1358790 1992
12
Quantitative acute leukemia cytogenetics. 57
1384663 1992
13
Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective. 57
2309795 1990
14
Familial myelodysplasia: progressive disease associated with emergency of monosomy 7. 57
3567084 1987
15
Childhood bone marrow monosomy 7 syndrome: a familial disorder? 57
3862804 1985
16
Familial leukemia and aplastic anemia associated with monosomy 7. 57
6638045 1983
17
Defective chemotaxis in monosomy-7. 57
264599 1977
18
Familial acute myelogenous leukemia with associated C-monosomy in two affected members. 57
1067893 1976
19
Dissecting the Contributions of Cooperating Gene Mutations to Cancer Phenotypes and Drug Responses with Patient-Derived iPSCs. 61
29681544 2018
20
A common genetic variant in XPD associates with risk of 5q- and 7q-deleted acute myeloid leukemia. 61
17023576 2007
21
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families. 61
10541945 1999
22
Central diabetes insipidus in a newborn with deletion of chromosome 7q. 61
9323625 1997
23
Benign rolandic epilepsy and chromosome 7q deletion. 61
9075027 1997

Variations for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

ClinVar genetic disease variations for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMD9L NM_152703.5(SAMD9L):c.4535T>C (p.Val1512Ala) SNV Pathogenic 988630 GRCh37: 7:92760750-92760750
GRCh38: 7:93131437-93131437
2 SAMD9L NM_152703.5(SAMD9L):c.3842G>A (p.Arg1281Lys) SNV Pathogenic 988631 GRCh37: 7:92761443-92761443
GRCh38: 7:93132130-93132130
3 SAMD9L NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) SNV Pathogenic 242372 rs878855336 GRCh37: 7:92762645-92762645
GRCh38: 7:93133332-93133332
4 SAMD9L NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) SNV Pathogenic 446530 rs1554341158 GRCh37: 7:92762329-92762329
GRCh38: 7:93133016-93133016

Expression for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Search GEO for disease gene expression data for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1.

Pathways for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

GO Terms for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Sources for Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

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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