BMFS6
MCID: BNM034
MIFTS: 14

Bone Marrow Failure Syndrome 6 (BMFS6)

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

Aliases & Classifications for Bone Marrow Failure Syndrome 6

MalaCards integrated aliases for Bone Marrow Failure Syndrome 6:

Name: Bone Marrow Failure Syndrome 6 56 6
Bmfs6 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
increased susceptibility to cancer
one family has been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618849
OMIM Phenotypic Series 56 PS614675

Summaries for Bone Marrow Failure Syndrome 6

MalaCards based summary : Bone Marrow Failure Syndrome 6, is also known as bmfs6. An important gene associated with Bone Marrow Failure Syndrome 6 is MDM4 (MDM4 Regulator Of P53). Affiliated tissues include bone marrow and bone.

More information from OMIM: 618849 PS614675

Related Diseases for Bone Marrow Failure Syndrome 6

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 6

Symptoms via clinical synopsis from OMIM:

56
Hematology:
anemia
bone marrow failure
hypocellular bone marrow (20-50%)

Neoplasia:
cancer, variable types

Immunology:
lymphopenia
neutropenia, intermittent

Laboratory Abnormalities:
decreased telomere length (1 to 10% of normal)

Clinical features from OMIM:

618849

Drugs & Therapeutics for Bone Marrow Failure Syndrome 6

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 6

Genetic Tests for Bone Marrow Failure Syndrome 6

Anatomical Context for Bone Marrow Failure Syndrome 6

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 6:

40
Bone Marrow, Bone

Publications for Bone Marrow Failure Syndrome 6

Articles related to Bone Marrow Failure Syndrome 6:

# Title Authors PMID Year
1
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. 6 56
32300648 2020

Variations for Bone Marrow Failure Syndrome 6

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MDM4 MDM4, THR454METSNV Pathogenic 869418

Expression for Bone Marrow Failure Syndrome 6

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 6.

Pathways for Bone Marrow Failure Syndrome 6

GO Terms for Bone Marrow Failure Syndrome 6

Sources for Bone Marrow Failure Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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