BMFS2
MCID: BNM011
MIFTS: 21

Bone Marrow Failure Syndrome 2 (BMFS2)

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

Aliases & Classifications for Bone Marrow Failure Syndrome 2

MalaCards integrated aliases for Bone Marrow Failure Syndrome 2:

Name: Bone Marrow Failure Syndrome 2 58 76 30 6 74
Bmfs2 58 76
Trilineage Bone Marrow Failure-Developmental Delay Syndrome 60
Pancytopenia-Developmental Delay Syndrome 60
Bone Marrow Failure Syndrome, Type 2 41

Characteristics:

Orphanet epidemiological data:

60
pancytopenia-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two unrelated patients have been reported (last curated march 2014)


HPO:

33
bone marrow failure syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bone Marrow Failure Syndrome 2

UniProtKB/Swiss-Prot : 76 Bone marrow failure syndrome 2: An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.

MalaCards based summary : Bone Marrow Failure Syndrome 2, is also known as bmfs2. An important gene associated with Bone Marrow Failure Syndrome 2 is ERCC6L2 (ERCC Excision Repair 6 Like 2). Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are microcephaly and neonatal hypotonia

OMIM : 58 Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. Cutaneous features and increased chromosome breakage are not features (Tummala et al., 2014). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). (615715)

Related Diseases for Bone Marrow Failure Syndrome 2

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 2

Human phenotypes related to Bone Marrow Failure Syndrome 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 HP:0000252
2 neonatal hypotonia 33 HP:0001319
3 anemia 33 HP:0001903
4 bone marrow hypocellularity 33 HP:0005528
5 thrombocytopenia 33 HP:0001873
6 leukopenia 33 HP:0001882

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Hematology:
thrombocytopenia
bone marrow failure
decreased hemoglobin
hypocellular bone marrow

Head And Neck Ears:
ear abnormalities

Laboratory Abnormalities:
shortened telomeres (in 1 of 2 patients)

Neurologic Central Nervous System:
neonatal hypotonia
learning difficulties

Immunology:
leukopenia

Head And Neck Face:
abnormal facies

Clinical features from OMIM:

615715

Drugs & Therapeutics for Bone Marrow Failure Syndrome 2

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 2

Genetic Tests for Bone Marrow Failure Syndrome 2

Genetic tests related to Bone Marrow Failure Syndrome 2:

# Genetic test Affiliating Genes
1 Bone Marrow Failure Syndrome 2 30 ERCC6L2

Anatomical Context for Bone Marrow Failure Syndrome 2

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 2:

42
Bone, Bone Marrow, Myeloid

Publications for Bone Marrow Failure Syndrome 2

Variations for Bone Marrow Failure Syndrome 2

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6L2 NM_020207.4(ERCC6L2): c.1963C> T (p.Arg655Ter) single nucleotide variant Pathogenic rs147948835 GRCh37 Chromosome 9, 98718278: 98718278
2 ERCC6L2 NM_020207.4(ERCC6L2): c.1963C> T (p.Arg655Ter) single nucleotide variant Pathogenic rs147948835 GRCh38 Chromosome 9, 95955996: 95955996
3 ERCC6L2 NM_020207.4(ERCC6L2): c.1236_1239delAACA (p.Thr413Cysfs) deletion Pathogenic rs886037662 GRCh38 Chromosome 9, 95921219: 95921222
4 ERCC6L2 NM_020207.4(ERCC6L2): c.1236_1239delAACA (p.Thr413Cysfs) deletion Pathogenic rs886037662 GRCh37 Chromosome 9, 98683501: 98683504

Expression for Bone Marrow Failure Syndrome 2

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 2.

Pathways for Bone Marrow Failure Syndrome 2

GO Terms for Bone Marrow Failure Syndrome 2

Sources for Bone Marrow Failure Syndrome 2

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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