BMFS3
MCID: BNM013
MIFTS: 21

Bone Marrow Failure Syndrome 3 (BMFS3)

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

Aliases & Classifications for Bone Marrow Failure Syndrome 3

MalaCards integrated aliases for Bone Marrow Failure Syndrome 3:

Name: Bone Marrow Failure Syndrome 3 57 75 29 6
Bmfs3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
possible cancer predisposition
four unrelated patients have been reported (last curated july 2016)


HPO:

32
bone marrow failure syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bone Marrow Failure Syndrome 3

UniProtKB/Swiss-Prot : 75 Bone marrow failure syndrome 3: 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. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive.

MalaCards based summary : Bone Marrow Failure Syndrome 3, is also known as bmfs3. An important gene associated with Bone Marrow Failure Syndrome 3 is DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are microcephaly and short stature

OMIM : 57 Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). (617052)

Related Diseases for Bone Marrow Failure Syndrome 3

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skin Nails Hair Skin:
hyperkeratosis
abnormal skin pigmentation

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Teeth:
hypodontia (1 patient)

Hematology:
pancytopenia
bone marrow failure

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
retinal dystrophy (1 patient)

Neoplasia:
acute myeloid leukemia (1 patient)


Clinical features from OMIM:

617052

Human phenotypes related to Bone Marrow Failure Syndrome 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 short stature 32 HP:0004322
3 pancytopenia 32 HP:0001876
4 bone marrow hypocellularity 32 HP:0005528
5 acute myeloid leukemia 32 occasional (7.5%) HP:0004808
6 hyperkeratosis 32 HP:0000962
7 intrauterine growth retardation 32 HP:0001511
8 hypodontia 32 occasional (7.5%) HP:0000668
9 abnormality of skin pigmentation 32 HP:0001000
10 retinal dystrophy 32 occasional (7.5%) HP:0000556

Drugs & Therapeutics for Bone Marrow Failure Syndrome 3

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 3

Genetic Tests for Bone Marrow Failure Syndrome 3

Genetic tests related to Bone Marrow Failure Syndrome 3:

# Genetic test Affiliating Genes
1 Bone Marrow Failure Syndrome 3 29 DNAJC21

Anatomical Context for Bone Marrow Failure Syndrome 3

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 3:

41
Bone, Bone Marrow, Skin, Myeloid

Publications for Bone Marrow Failure Syndrome 3

Variations for Bone Marrow Failure Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Bone Marrow Failure Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 DNAJC21 p.Pro32Ala VAR_076802 rs879253818

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC21 NM_001012339.2(DNAJC21): c.94C> G (p.Pro32Ala) single nucleotide variant Pathogenic rs879253818 GRCh37 Chromosome 5, 34930018: 34930018
2 DNAJC21 NM_001012339.2(DNAJC21): c.94C> G (p.Pro32Ala) single nucleotide variant Pathogenic rs879253818 GRCh38 Chromosome 5, 34929913: 34929913
3 DNAJC21 NM_001012339.2(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh38 Chromosome 5, 34937404: 34937404
4 DNAJC21 NM_001012339.2(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh37 Chromosome 5, 34937509: 34937509
5 DNAJC21 NM_001012339.2(DNAJC21): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh38 Chromosome 5, 34938907: 34938907
6 DNAJC21 NM_001012339.2(DNAJC21): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh37 Chromosome 5, 34939012: 34939012
7 DNAJC21 NM_001012339.2(DNAJC21): c.983+1G> T single nucleotide variant Pathogenic rs368148362 GRCh37 Chromosome 5, 34941289: 34941289
8 DNAJC21 NM_001012339.2(DNAJC21): c.983+1G> T single nucleotide variant Pathogenic rs368148362 GRCh38 Chromosome 5, 34941184: 34941184

Expression for Bone Marrow Failure Syndrome 3

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 3.

Pathways for Bone Marrow Failure Syndrome 3

GO Terms for Bone Marrow Failure Syndrome 3

Sources for Bone Marrow Failure Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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