BMFS5
MCID: BNM033
MIFTS: 16

Bone Marrow Failure Syndrome 5 (BMFS5)

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

Aliases & Classifications for Bone Marrow Failure Syndrome 5

MalaCards integrated aliases for Bone Marrow Failure Syndrome 5:

Name: Bone Marrow Failure Syndrome 5 58 76 6
Bmfs5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy
two unrelated patients have been reported (last curated october 2018)


Classifications:



External Ids:

OMIM 58 618165
MeSH 45 D000741

Summaries for Bone Marrow Failure Syndrome 5

UniProtKB/Swiss-Prot : 76 Bone marrow failure syndrome 5: 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. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures.

MalaCards based summary : Bone Marrow Failure Syndrome 5, is also known as bmfs5. An important gene associated with Bone Marrow Failure Syndrome 5 is TP53 (Tumor Protein P53). Affiliated tissues include bone and bone marrow.

OMIM : 58 Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018) For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). (618165)

Related Diseases for Bone Marrow Failure Syndrome 5

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 5

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
delayed psychomotor development
impaired intellectual development

Hematology:
anemia
red cell aplasia
bone marrow shows selective erythroid hypoplasia

Growth Other:
poor overall growth

Head And Neck Teeth:
tooth anomalies (patient a)

Skeletal:
delayed bone age (patient a)

Endocrine Features:
hypogonadism (patient a)

Growth Height:
short stature

Immunology:
hypogammaglobulinemia

Head And Neck Head:
microcephaly (up to -6 sd)

Genitourinary External Genitalia Male:
testicular atrophy (patient a)

Skin Nails Hair Skin:
reticular pigmentation (patient a)

Clinical features from OMIM:

618165

Drugs & Therapeutics for Bone Marrow Failure Syndrome 5

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 5

Genetic Tests for Bone Marrow Failure Syndrome 5

Anatomical Context for Bone Marrow Failure Syndrome 5

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 5:

42
Bone, Bone Marrow

Publications for Bone Marrow Failure Syndrome 5

Variations for Bone Marrow Failure Syndrome 5

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_001126112.2(TP53): c.1077delA (p.Ser362Alafs) deletion Pathogenic rs1555524370 GRCh38 Chromosome 17, 7670632: 7670632
2 TP53 NM_001126112.2(TP53): c.1077delA (p.Ser362Alafs) deletion Pathogenic rs1555524370 GRCh37 Chromosome 17, 7573950: 7573950
3 TP53 NM_001126112.2(TP53): c.1083delG (p.Ser362Alafs) deletion Pathogenic rs1555524354 GRCh38 Chromosome 17, 7670626: 7670626
4 TP53 NM_001126112.2(TP53): c.1083delG (p.Ser362Alafs) deletion Pathogenic rs1555524354 GRCh37 Chromosome 17, 7573944: 7573944

Expression for Bone Marrow Failure Syndrome 5

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 5.

Pathways for Bone Marrow Failure Syndrome 5

GO Terms for Bone Marrow Failure Syndrome 5

Sources for Bone Marrow Failure Syndrome 5

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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