BMFS5
MCID: BNM033
MIFTS: 21

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 57 74 29 6
Bmfs5 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
bone marrow failure syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D000741

Summaries for Bone Marrow Failure Syndrome 5

UniProtKB/Swiss-Prot : 74 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, and related phenotypes are seizures and global developmental delay

OMIM : 57 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

Human phenotypes related to Bone Marrow Failure Syndrome 5:

32 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 delayed skeletal maturation 32 HP:0002750
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 anemia 32 HP:0001903
7 decreased antibody level in blood 32 HP:0004313
8 hypogonadism 32 HP:0000135
9 testicular atrophy 32 HP:0000029
10 pure red cell aplasia 32 HP:0012410

Symptoms via clinical synopsis from OMIM:

57
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

Genetic tests related to Bone Marrow Failure Syndrome 5:

# Genetic test Affiliating Genes
1 Bone Marrow Failure Syndrome 5 29 TP53

Anatomical Context for Bone Marrow Failure Syndrome 5

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

41
Bone, Bone Marrow

Publications for Bone Marrow Failure Syndrome 5

Articles related to Bone Marrow Failure Syndrome 5:

(showing 3, show less)
# Title Authors PMID Year
1
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. 8 71
30146126 2018
2
The C terminus of p53 regulates gene expression by multiple mechanisms in a target- and tissue-specific manner in vivo. 8
24013501 2013
3
Mutant mice lacking the p53 C-terminal domain model telomere syndromes. 8
23770245 2013

Variations for Bone Marrow Failure Syndrome 5

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 5:

6 (showing 2, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.1077del (p.Ser362fs) deletion Pathogenic rs1555524370 17:7573950-7573950 17:7670632-7670632
2 TP53 NM_000546.5(TP53): c.1083del (p.Ser362fs) deletion Pathogenic rs1555524354 17:7573944-7573944 17:7670626-7670626

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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