BMFS3
MCID: BNM013
MIFTS: 25

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 58 76 30 6
Bmfs3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in in infancy or early childhood
possible cancer predisposition
bone marrow hypocellularity may improve spontaneously with age


HPO:

33
bone marrow failure syndrome 3:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bone Marrow Failure Syndrome 3

OMIM : 58 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). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). (617052)

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 acute myeloid leukemia

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Bone Marrow Failure Syndrome 3

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 3

Human phenotypes related to Bone Marrow Failure Syndrome 3:

33 (show all 34)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 acute myeloid leukemia 33 occasional (7.5%) HP:0004808
3 hypodontia 33 occasional (7.5%) HP:0000668
4 retinal dystrophy 33 occasional (7.5%) HP:0000556
5 hearing impairment 33 very rare (1%) HP:0000365
6 metaphyseal dysplasia 33 very rare (1%) HP:0100255
7 hypertelorism 33 HP:0000316
8 failure to thrive 33 HP:0001508
9 abnormal facial shape 33 HP:0001999
10 short stature 33 HP:0004322
11 micrognathia 33 HP:0000347
12 pancytopenia 33 HP:0001876
13 bone marrow hypocellularity 33 HP:0005528
14 aplastic anemia 33 HP:0001915
15 hyperkeratosis 33 HP:0000962
16 nail dystrophy 33 HP:0008404
17 epicanthus 33 HP:0000286
18 microdontia 33 HP:0000691
19 reduced bone mineral density 33 HP:0004349
20 intrauterine growth retardation 33 HP:0001511
21 myopia 33 HP:0000545
22 exocrine pancreatic insufficiency 33 HP:0001738
23 congenital hip dislocation 33 HP:0001374
24 small nail 33 HP:0001792
25 joint hypermobility 33 HP:0001382
26 downslanted palpebral fissures 33 HP:0000494
27 eczema 33 HP:0000964
28 aplasia/hypoplasia of the eyebrow 33 HP:0100840
29 abnormality of skin pigmentation 33 HP:0001000
30 astigmatism 33 HP:0000483
31 amelogenesis imperfecta 33 HP:0000705
32 cupped ear 33 HP:0000378
33 hypoplasia of dental enamel 33 HP:0006297
34 hypermetropia 33 HP:0000540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthus
myopia
downslanted palpebral fissures
astigmatism
more
Growth Height:
short stature

Hematology:
pancytopenia
aplastic anemia
bone marrow failure

Skin Nails Hair Nails:
nail dystrophy
nail hypoplasia

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal Limbs:
congenital hip dislocation
metaphyseal dysplasia (in some patients)

Immunology:
recurrent infections

Muscle Soft Tissue:
hernias

Head And Neck Ears:
cupped ears
hearing impairment, mild (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
eleven pairs of ribs
pectus abnormalities

Neoplasia:
acute myeloid leukemia (1 patient)

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Face:
micrognathia
dysmorphic facial features, variable

Skin Nails Hair Skin:
hyperkeratosis
eczema
abnormal skin pigmentation

Head And Neck Teeth:
microdontia
hypodontia
amelogenesis imperfecta
enamel hypoplasia

Abdomen Pancreas:
exocrine pancreatic insufficiency
atrophic pancreas

Skeletal:
joint hypermobility
decreased bone mineral density

Skin Nails Hair Hair:
sparse hair

Head And Neck Head:
microcephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity (in some patients)

Neurologic Central Nervous System:
global developmental delay (in some patients)

Laboratory Abnormalities:
decreased serum pancreatic enzymes (in some patients)
shortened telomeres (in some patients)

Clinical features from OMIM:

617052

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 30 DNAJC21

Anatomical Context for Bone Marrow Failure Syndrome 3

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

42
Bone, Bone Marrow, Skin, Myeloid, Pancreas

Publications for Bone Marrow Failure Syndrome 3

Articles related to Bone Marrow Failure Syndrome 3:

# Title Authors Year
1
Refining the phenotype associated with biallelic DNAJC21 mutations. ( 29700810 )
2018
2
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
3
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. ( 27346687 )
2016

Variations for Bone Marrow Failure Syndrome 3

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

76
# 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 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC21 NM_001012339.3(DNAJC21): c.94C> G (p.Pro32Ala) single nucleotide variant Pathogenic rs879253818 GRCh37 Chromosome 5, 34930018: 34930018
2 DNAJC21 NM_001012339.3(DNAJC21): c.94C> G (p.Pro32Ala) single nucleotide variant Pathogenic rs879253818 GRCh38 Chromosome 5, 34929913: 34929913
3 DNAJC21 NM_001012339.3(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh38 Chromosome 5, 34937404: 34937404
4 DNAJC21 NM_001012339.3(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh37 Chromosome 5, 34937509: 34937509
5 DNAJC21 NM_001012339.3(DNAJC21): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh38 Chromosome 5, 34938907: 34938907
6 DNAJC21 NM_001012339.3(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
9 DNAJC21 NM_001012339.3(DNAJC21): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 34937407: 34937407
10 DNAJC21 NM_001012339.3(DNAJC21): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 34937512: 34937512
11 DNAJC21 NM_001012339.3(DNAJC21): c.100A> G (p.Lys34Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 34933922: 34933922
12 DNAJC21 NM_001012339.3(DNAJC21): c.100A> G (p.Lys34Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 34933817: 34933817

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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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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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