BMFS
MCID: INH011
MIFTS: 34

Inherited Bone Marrow Failure Syndromes (BMFS)

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

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

MalaCards integrated aliases for Inherited Bone Marrow Failure Syndromes:

Name: Inherited Bone Marrow Failure Syndromes 53
Inherited Bone Marrow Failure Syndrome 29 6 73
Bmfs 53

Classifications:



External Ids:

UMLS 73 C2986691

Summaries for Inherited Bone Marrow Failure Syndromes

MalaCards based summary : Inherited Bone Marrow Failure Syndromes, also known as inherited bone marrow failure syndrome, is related to revesz syndrome and dyskeratosis congenita. An important gene associated with Inherited Bone Marrow Failure Syndromes is DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). The drugs Lenograstim and Danazol have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

Related Diseases for Inherited Bone Marrow Failure Syndromes

Diseases in the Inherited Bone Marrow Failure Syndromes family:

Bone Marrow Failure Syndrome 1 Bone Marrow Failure Syndrome 2
Bone Marrow Failure Syndrome 3 Bone Marrow Failure Syndrome 4
Bone Marrow Failure Syndrome 5

Diseases related to Inherited Bone Marrow Failure Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 revesz syndrome 31.5 TERC TERT
2 dyskeratosis congenita 30.0 TERC TERT
3 shwachman-diamond syndrome 1 29.6 DNAJC21 SBDS
4 myelodysplastic syndrome 29.2 SBDS TERC TERT
5 amegakaryocytic thrombocytopenia, congenital 11.1
6 dyskeratosis congenita, autosomal dominant 3 11.1
7 bone marrow failure syndrome 2 11.0
8 bone marrow failure syndrome 3 11.0
9 bone marrow failure syndrome 4 11.0
10 bone marrow failure syndrome 5 11.0
11 fanconi anemia, complementation group a 10.2
12 hematopoietic stem cell transplantation 10.2
13 leukemia, chronic lymphocytic 2 10.2
14 leukemia, chronic lymphocytic 10.2
15 lymphocytic leukemia 10.2
16 leukemia, b-cell, chronic 10.2
17 paroxysmal nocturnal hemoglobinuria 10.2
18 hemoglobinuria 10.2
19 leukemia 10.1
20 glioma 10.1
21 dyskeratosis congenita, autosomal dominant 1 10.0 TERC TERT
22 colorectal cancer 9.9
23 hepatocellular carcinoma 9.9
24 esophageal cancer 9.9
25 ovarian cancer 9.9
26 rhabdomyosarcoma 2 9.9
27 thymus lymphoma 9.9
28 squamous cell carcinoma 9.9
29 melanoma 9.9
30 rhabdomyosarcoma 9.9
31 hypoxia 9.9
32 dyskeratosis congenita autosomal dominant 9.9 TERC TERT
33 thrombocytopenia 9.9
34 cervical intraepithelial neoplasia 9.9 TERC TERT
35 pulmonary fibrosis 9.8 TERC TERT
36 pulmonary fibrosis, idiopathic 9.8 TERC TERT
37 aplastic anemia 9.6 SBDS TERC TERT

Graphical network of the top 20 diseases related to Inherited Bone Marrow Failure Syndromes:



Diseases related to Inherited Bone Marrow Failure Syndromes

Symptoms & Phenotypes for Inherited Bone Marrow Failure Syndromes

Drugs & Therapeutics for Inherited Bone Marrow Failure Syndromes

Drugs for Inherited Bone Marrow Failure Syndromes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
3 Immunologic Factors Phase 2,Early Phase 1
4 Adjuvants, Immunologic Phase 2
5 Estrogen Antagonists Phase 1, Phase 2
6 Hormone Antagonists Phase 1, Phase 2
7 Hormones Phase 1, Phase 2
8 Estrogen Receptor Antagonists Phase 1, Phase 2
9 Estrogens Phase 1, Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
11
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Early Phase 1 6055-19-2, 50-18-0 2907
13
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 32326 21704
14
Fludarabine Approved Early Phase 1 75607-67-9, 21679-14-1 30751
15 Antimetabolites Early Phase 1
16 Antimetabolites, Antineoplastic Early Phase 1
17 Antirheumatic Agents Early Phase 1
18 Thymoglobulin Early Phase 1
19 Anti-Infective Agents Early Phase 1
20 Antineoplastic Agents, Alkylating Early Phase 1
21 Immunosuppressive Agents Early Phase 1
22 Antiviral Agents Early Phase 1
23 Alkylating Agents Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
2 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
3 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
4 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
5 Pre-myeloid Cancer and Bone Marrow Failure Clinic Study Recruiting NCT02958462 Not Applicable
6 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
7 Unrelated And Partially Matched Related Donor PSCT w/ TCR αβ Depletion for Patients With BMF Recruiting NCT03047746 Not Applicable
8 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1

Search NIH Clinical Center for Inherited Bone Marrow Failure Syndromes

Genetic Tests for Inherited Bone Marrow Failure Syndromes

Genetic tests related to Inherited Bone Marrow Failure Syndromes:

# Genetic test Affiliating Genes
1 Inherited Bone Marrow Failure Syndrome 29

Anatomical Context for Inherited Bone Marrow Failure Syndromes

MalaCards organs/tissues related to Inherited Bone Marrow Failure Syndromes:

41
Bone, Bone Marrow, Myeloid, Skin, Liver, Neutrophil, B Cells

Publications for Inherited Bone Marrow Failure Syndromes

Articles related to Inherited Bone Marrow Failure Syndromes:

(show top 50) (show all 67)
# Title Authors Year
1
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. ( 29051281 )
2018
2
Acquired and Inherited Bone Marrow Failure Syndromes. ( 30047424 )
2018
3
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. ( 29540340 )
2018
4
ERCC6L2-associated inherited bone marrow failure syndrome. ( 29633571 )
2018
5
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome. ( 30146126 )
2018
6
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. ( 28102861 )
2017
7
Bone mineral density in patients with inherited bone marrow failure syndromes. ( 28486441 )
2017
8
Pregnancy outcomes in inherited bone marrow failure syndromes. ( 28798157 )
2017
9
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. ( 28533057 )
2017
10
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation. ( 28115275 )
2017
11
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. ( 29222241 )
2017
12
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. ( 29167174 )
2017
13
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. ( 28637614 )
2017
14
Treatment of inherited bone marrow failure syndromes beyond transplantation. ( 29222242 )
2017
15
Monosomy 7/del (7q) in inherited bone marrow failure syndromes: A systematic review. ( 28708320 )
2017
16
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. ( 28801981 )
2017
17
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. ( 29222240 )
2017
18
Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. ( 28838890 )
2017
19
The clinical impact of copy number variants in inherited bone marrow failure syndromes. ( 28690869 )
2017
20
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. ( 27760710 )
2017
21
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. ( 28623394 )
2017
22
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
23
[Inherited bone marrow failure syndromes]. ( 26935625 )
2016
24
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
25
Neonatal manifestations of inherited bone marrow failure syndromes. ( 26724991 )
2016
26
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26872907 )
2016
27
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. ( 26136524 )
2015
28
Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26052913 )
2015
29
Immune status of patients with inherited bone marrow failure syndromes. ( 25963299 )
2015
30
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes. ( 25682607 )
2015
31
Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China. ( 27358883 )
2015
32
Inherited bone marrow failure syndromes. ( 26218202 )
2015
33
Comment on: "The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes". ( 26341527 )
2015
34
Reduced Serum Levels of Anti-MA1llerian Hormone in Females with Inherited Bone Marrow Failure Syndromes. ( 25405500 )
2014
35
Telomere length in inherited bone marrow failure syndromes. ( 25304614 )
2014
36
Comparison of chromosome breakage in non-mosaic and mosaic patients with fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes. ( 25227706 )
2014
37
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. ( 25540896 )
2014
38
Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies. ( 26835351 )
2014
39
Inherited bone marrow failure syndromes in adolescents and young adults. ( 24888387 )
2014
40
Current insights into inherited bone marrow failure syndromes. ( 25210520 )
2014
41
Presence of paroxysmal nocturnal hemoglobinuria clones does not exclude inherited bone marrow failure syndromes. ( 24750478 )
2014
42
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. ( 24612308 )
2014
43
Genomic characterization of the inherited bone marrow failure syndromes. ( 24246701 )
2013
44
The inherited bone marrow failure syndromes. ( 24237972 )
2013
45
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. ( 23889587 )
2013
46
Inherited bone marrow failure syndromes in 2012. ( 23271412 )
2013
47
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. ( 23713742 )
2013
48
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. ( 24295807 )
2013
49
Recent insights into inherited bone marrow failure syndromes. ( 22227778 )
2012
50
Neutrophil functions in patients with inherited bone marrow failure syndromes. ( 21671367 )
2011

Variations for Inherited Bone Marrow Failure Syndromes

ClinVar genetic disease variations for Inherited Bone Marrow Failure Syndromes:

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.983+1G> A single nucleotide variant Pathogenic rs368148362 GRCh37 Chromosome 5, 34941289: 34941289
4 DNAJC21 NM_001012339.2(DNAJC21): c.983+1G> A single nucleotide variant Pathogenic rs368148362 GRCh38 Chromosome 5, 34941184: 34941184
5 DNAJC21 NM_001012339.2(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh38 Chromosome 5, 34937404: 34937404
6 DNAJC21 NM_001012339.2(DNAJC21): c.517C> T (p.Arg173Ter) single nucleotide variant Pathogenic rs150576702 GRCh37 Chromosome 5, 34937509: 34937509
7 DNAJC21 NM_001012339.2(DNAJC21): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh38 Chromosome 5, 34938907: 34938907
8 DNAJC21 NM_001012339.2(DNAJC21): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh37 Chromosome 5, 34939012: 34939012

Expression for Inherited Bone Marrow Failure Syndromes

Search GEO for disease gene expression data for Inherited Bone Marrow Failure Syndromes.

Pathways for Inherited Bone Marrow Failure Syndromes

GO Terms for Inherited Bone Marrow Failure Syndromes

Cellular components related to Inherited Bone Marrow Failure Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 9.16 TERC TERT
2 telomerase holoenzyme complex GO:0005697 8.96 TERC TERT
3 telomerase catalytic core complex GO:0000333 8.62 TERC TERT

Biological processes related to Inherited Bone Marrow Failure Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.26 TERC TERT
2 DNA biosynthetic process GO:0071897 9.16 TERC TERT
3 telomere maintenance via telomerase GO:0007004 8.96 TERC TERT
4 negative regulation of cellular senescence GO:2000773 8.62 TERC TERT

Molecular functions related to Inherited Bone Marrow Failure Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA-directed DNA polymerase activity GO:0003964 9.16 TERC TERT
2 telomerase activity GO:0003720 8.96 TERC TERT
3 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERC TERT

Sources for Inherited Bone Marrow Failure Syndromes

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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