BMFS4
MCID: BNM032
MIFTS: 22

Bone Marrow Failure Syndrome 4 (BMFS4)

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

Aliases & Classifications for Bone Marrow Failure Syndrome 4

MalaCards integrated aliases for Bone Marrow Failure Syndrome 4:

Name: Bone Marrow Failure Syndrome 4 58 76 6
Bmfs4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three unrelated families have been reported (last curated september 2018)


HPO:

33
bone marrow failure syndrome 4:
Onset and clinical course congenital onset


Classifications:



Summaries for Bone Marrow Failure Syndrome 4

OMIM : 58 BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). (618116)

MalaCards based summary : Bone Marrow Failure Syndrome 4, is also known as bmfs4. An important gene associated with Bone Marrow Failure Syndrome 4 is MYSM1 (Myb Like, SWIRM And MPN Domains 1). Affiliated tissues include bone, bone marrow and b cells, and related phenotypes are abnormal facial shape and thrombocytopenia

UniProtKB/Swiss-Prot : 76 Bone marrow failure syndrome 4: A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra hematopoietic features. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive.

Related Diseases for Bone Marrow Failure Syndrome 4

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 4

Human phenotypes related to Bone Marrow Failure Syndrome 4:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 very rare (1%) HP:0001999
2 thrombocytopenia 33 very rare (1%) HP:0001873
3 low-set ears 33 HP:0000369
4 anemia 33 HP:0001903
5 bone marrow hypocellularity 33 HP:0005528
6 dry skin 33 HP:0000958
7 decreased antibody level in blood 33 HP:0004313
8 eczema 33 HP:0000964
9 midface retrusion 33 HP:0011800
10 leukopenia 33 HP:0001882

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
deafness due to absence of the cochlear nerve (1 patient)

Growth Height:
short stature

Skin Nails Hair Skin:
dry skin
eczema

Head And Neck Face:
midface hypoplasia
dysmorphic facial features (in some patients)

Skeletal Hands:
short fingers

Head And Neck Mouth:
gingival hypertrophy

Head And Neck Head:
small head circumference (in some patients)

Respiratory:
recurrent respiratory infections

Hematology:
anemia
thrombocytopenia (in some patients)
bone marrow failure
hypocellular bone marrow
dysplastic red cell precursors
more
Immunology:
leukopenia
hypogammaglobulinemia
decreased b cells
decreased neutrophils

Skeletal Limbs:
rhizomelic limb shortening

Head And Neck Teeth:
delayed dentition

Chest External Features:
thoracic asymmetry

Neurologic Central Nervous System:
delayed development, mild (in some patients)

Clinical features from OMIM:

618116

Drugs & Therapeutics for Bone Marrow Failure Syndrome 4

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 4

Genetic Tests for Bone Marrow Failure Syndrome 4

Anatomical Context for Bone Marrow Failure Syndrome 4

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 4:

42
Bone, Bone Marrow, B Cells, Skin, Neutrophil

Publications for Bone Marrow Failure Syndrome 4

Articles related to Bone Marrow Failure Syndrome 4:

# Title Authors Year
1
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. ( 28115216 )
2017
2
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. ( 26220525 )
2015
3
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. ( 24288411 )
2013
4
The critical role of histone H2A-deubiquitinase Mysm1 in hematopoiesis and lymphocyte differentiation. ( 22184403 )
2012

Variations for Bone Marrow Failure Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Bone Marrow Failure Syndrome 4:

76
# Symbol AA change Variation ID SNP ID
1 MYSM1 p.His656Arg VAR_081185

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYSM1 NM_001085487.2(MYSM1): c.1168G> T (p.Glu390Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 58681876: 58681876
2 MYSM1 NM_001085487.2(MYSM1): c.1168G> T (p.Glu390Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 59147548: 59147548
3 MYSM1 NM_001085487.2(MYSM1): c.1967A> G (p.His656Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 59132774: 59132774
4 MYSM1 NM_001085487.2(MYSM1): c.1967A> G (p.His656Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 58667102: 58667102

Expression for Bone Marrow Failure Syndrome 4

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 4.

Pathways for Bone Marrow Failure Syndrome 4

GO Terms for Bone Marrow Failure Syndrome 4

Sources for Bone Marrow Failure Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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