BMFS2
MCID: BNM011
MIFTS: 24

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 57 72 29 6 70
Bmfs2 57 72
Trilineage Bone Marrow Failure-Developmental Delay Syndrome 58
Pancytopenia-Developmental Delay Syndrome 58
Bone Marrow Failure Syndrome, Type 2 39

Characteristics:

Orphanet epidemiological data:

58
pancytopenia-developmental delay syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
bone marrow failure syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 615715
OMIM Phenotypic Series 57 PS614675
MeSH 44 D000080983
ICD10 via Orphanet 33 D61.0
Orphanet 58 ORPHA401764
UMLS 70 C3810350

Summaries for Bone Marrow Failure Syndrome 2

UniProtKB/Swiss-Prot : 72 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 marrow, bone and myeloid, and related phenotypes are microcephaly and neonatal hypotonia

OMIM® : 57 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) (Updated 20-May-2021)

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 neonatal hypotonia 31 HP:0001319
3 anemia 31 HP:0001903
4 thrombocytopenia 31 HP:0001873
5 bone marrow hypocellularity 31 HP:0005528
6 leukopenia 31 HP:0001882

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 ERCC6L2

Anatomical Context for Bone Marrow Failure Syndrome 2

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

40
Bone Marrow, Bone, Myeloid

Publications for Bone Marrow Failure Syndrome 2

Articles related to Bone Marrow Failure Syndrome 2:

# Title Authors PMID Year
1
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. 6 57
27185855 2016
2
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 6 57
24507776 2014
3
Pediatric leukemia susceptibility disorders: manifestations and management. 61
29222262 2017

Variations for Bone Marrow Failure Syndrome 2

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6L2 NM_020207.5(ERCC6L2):c.1963C>T (p.Arg655Ter) SNV Pathogenic 125449 rs147948835 GRCh37: 9:98718278-98718278
GRCh38: 9:95955996-95955996
2 ERCC6L2 NM_020207.5(ERCC6L2):c.1236_1239del (p.Thr413fs) Deletion Pathogenic 125450 rs886037662 GRCh37: 9:98683499-98683502
GRCh38: 9:95921217-95921220
3 ERCC6L2 NM_020207.5(ERCC6L2):c.52C>T (p.Gln18Ter) SNV Likely pathogenic 421974 rs778926161 GRCh37: 9:98638339-98638339
GRCh38: 9:95876057-95876057
4 ERCC6L2 NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg) SNV Uncertain significance 802504 rs1588056898 GRCh37: 9:98775073-98775073
GRCh38: 9:96012791-96012791
5 ERCC6L2 NM_020207.7(ERCC6L2):c.3492+2T>G SNV Uncertain significance 813930 rs1588013817 GRCh37: 9:98740499-98740499
GRCh38: 9:95978217-95978217
6 ERCC6L2 NM_020207.7(ERCC6L2):c.1902G>C (p.Leu634Phe) SNV Uncertain significance 1028443 GRCh37: 9:98718250-98718250
GRCh38: 9:95955968-95955968
7 ERCC6L2 NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp) SNV Uncertain significance 1032068 GRCh37: 9:98678655-98678655
GRCh38: 9:95916373-95916373
8 ERCC6L2 NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser) SNV Uncertain significance 1034368 GRCh37: 9:98703756-98703756
GRCh38: 9:95941474-95941474
9 ERCC6L2 NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) SNV Uncertain significance 1034369 GRCh37: 9:98643267-98643267
GRCh38: 9:95880985-95880985

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....