BMFS5
MCID: BNM033
MIFTS: 22

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 72 29 6
Bmfs5 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
bone marrow failure syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bone Marrow Failure Syndrome 5

UniProtKB/Swiss-Prot : 72 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 marrow and bone, and related phenotypes are global developmental delay and delayed skeletal maturation

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) (Updated 05-Apr-2021)

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 delayed skeletal maturation 31 HP:0002750
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 anemia 31 HP:0001903
6 testicular atrophy 31 HP:0000029
7 hypogonadism 31 HP:0000135
8 pure red cell aplasia 31 HP:0012410
9 seizure 31 HP:0001250
10 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
delayed psychomotor development
impaired intellectual development

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

Immunology:
hypogammaglobulinemia

Head And Neck Teeth:
tooth anomalies (patient a)

Skeletal:
delayed bone age (patient a)

Endocrine Features:
hypogonadism (patient a)

Growth Height:
short stature

Growth Other:
poor overall growth

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 (Updated 05-Apr-2021)

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:

40
Bone Marrow, Bone

Publications for Bone Marrow Failure Syndrome 5

Articles related to Bone Marrow Failure Syndrome 5:

# Title Authors PMID Year
1
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. 57 6
30146126 2018
2
The C terminus of p53 regulates gene expression by multiple mechanisms in a target- and tissue-specific manner in vivo. 57
24013501 2013
3
Mutant mice lacking the p53 C-terminal domain model telomere syndromes. 57
23770245 2013

Variations for Bone Marrow Failure Syndrome 5

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_001126113.2(TP53):c.*102del Deletion Pathogenic 549856 rs1555524354 GRCh37: 17:7573944-7573944
GRCh38: 17:7670626-7670626
2 TP53 NM_001126113.2(TP53):c.*96del Deletion Pathogenic 549855 rs1555524370 GRCh37: 17:7573950-7573950
GRCh38: 17:7670632-7670632
3 TP53 NM_000546.5(TP53):c.869G>T (p.Arg290Leu) SNV Uncertain significance 633445 rs55819519 GRCh37: 17:7577069-7577069
GRCh38: 17:7673751-7673751

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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