MCID: INH011
MIFTS: 27

Inherited Bone Marrow Failure Syndromes

Categories: Rare diseases, Bone diseases, Immune diseases

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

MalaCards integrated aliases for Inherited Bone Marrow Failure Syndromes:

Name: Inherited Bone Marrow Failure Syndromes 50
Inherited Bone Marrow Failure Syndrome 29 69
Bmfs 50

Classifications:



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 thrombocytopenia, congenital amegakaryocytic and dyskeratosis congenita, autosomal dominant 3. An important gene associated with Inherited Bone Marrow Failure Syndromes is DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). The drugs Lenograstim and alemtuzumab 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

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 top 50) (show all 60)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 2 135968-09-1
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
9
Fludarabine Approved Phase 2,Early Phase 1 21679-14-1, 75607-67-9 30751
10
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
11
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
14
Vidarabine Approved Phase 2,Early Phase 1 24356-66-9 32326 21704
15
Hydroxyurea Approved Phase 2 127-07-1 3657
16 Thiotepa Approved Phase 2 52-24-4 5453
17
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
19
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
20
Treosulfan Investigational Phase 2 299-75-2 9296
21 Adjuvants, Immunologic Phase 2
22 Alkylating Agents Phase 2,Early Phase 1
23 Antiemetics Phase 2
24 Antifungal Agents Phase 2
25 Anti-Infective Agents Phase 2,Early Phase 1
26 Anti-Inflammatory Agents Phase 2
27 Antilymphocyte Serum Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 Antirheumatic Agents Phase 2,Early Phase 1
30 Autonomic Agents Phase 2
31 Calcineurin Inhibitors Phase 2
32 Cyclosporins Phase 2
33 Dermatologic Agents Phase 2
34 Gastrointestinal Agents Phase 2
35 glucocorticoids Phase 2
36 Hormone Antagonists Phase 2,Phase 1
37 Hormones Phase 2,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
39 Immunosuppressive Agents Phase 2,Early Phase 1
40 Methylprednisolone acetate Phase 2
41 Methylprednisolone Hemisuccinate Phase 2
42 Neuroprotective Agents Phase 2
43 Peripheral Nervous System Agents Phase 2
44 Prednisolone acetate Phase 2
45 Prednisolone hemisuccinate Phase 2
46 Prednisolone phosphate Phase 2
47 Protective Agents Phase 2
48 Anti-Bacterial Agents Phase 2
49 Antibiotics, Antitubercular Phase 2
50 Antimetabolites Phase 2,Early Phase 1

Interventional clinical trials:

(show all 12)

id 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 Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2 Campath, Chemo and/or TBI Allo SCT
3 Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Other Hematologic or Metabolic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
5 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
7 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
8 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
9 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
10 Pre-myeloid Cancer and Bone Marrow Failure Clinic Study Recruiting NCT02958462
11 Unrelated And Partially Matched Related Donor PSCT w/ TCR αβ Depletion for Patients With BMF Recruiting NCT03047746
12 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015

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:

id 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:

39
Bone, Bone Marrow, Myeloid, T Cells, Neutrophil

Publications for Inherited Bone Marrow Failure Syndromes

Articles related to Inherited Bone Marrow Failure Syndromes:

(show top 50) (show all 54)
id Title Authors Year
1
Monosomy 7/del (7q) in inherited bone marrow failure syndromes: A systematic review. ( 28708320 )
2017
2
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. ( 28801981 )
2017
3
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. ( 28637614 )
2017
4
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
5
Bone mineral density in patients with inherited bone marrow failure syndromes. ( 28486441 )
2017
6
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
7
The clinical impact of copy number variants in inherited bone marrow failure syndromes. ( 28690869 )
2017
8
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
9
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. ( 28623394 )
2017
10
Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. ( 28838890 )
2017
11
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. ( 28102861 )
2017
12
Pregnancy outcomes in inherited bone marrow failure syndromes. ( 28798157 )
2017
13
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26872907 )
2016
14
Neonatal manifestations of inherited bone marrow failure syndromes. ( 26724991 )
2016
15
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
16
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
17
Inherited bone marrow failure syndromes. ( 26218202 )
2015
18
Immune status of patients with inherited bone marrow failure syndromes. ( 25963299 )
2015
19
Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China. ( 27358883 )
2015
20
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. ( 26136524 )
2015
21
Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26052913 )
2015
22
Reduced Serum Levels of Anti-MA1llerian Hormone in Females with Inherited Bone Marrow Failure Syndromes. ( 25405500 )
2014
23
Presence of paroxysmal nocturnal hemoglobinuria clones does not exclude inherited bone marrow failure syndromes. ( 24750478 )
2014
24
Current insights into inherited bone marrow failure syndromes. ( 25210520 )
2014
25
Telomere length in inherited bone marrow failure syndromes. ( 25304614 )
2014
26
Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies. ( 26835351 )
2014
27
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
28
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. ( 25540896 )
2014
29
Inherited bone marrow failure syndromes in adolescents and young adults. ( 24888387 )
2014
30
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. ( 24612308 )
2014
31
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. ( 23889587 )
2013
32
The inherited bone marrow failure syndromes. ( 24237972 )
2013
33
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. ( 24295807 )
2013
34
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. ( 23713742 )
2013
35
Inherited bone marrow failure syndromes in 2012. ( 23271412 )
2013
36
Genomic characterization of the inherited bone marrow failure syndromes. ( 24246701 )
2013
37
Recent insights into inherited bone marrow failure syndromes. ( 22227778 )
2012
38
Neutrophil functions in patients with inherited bone marrow failure syndromes. ( 21671367 )
2011
39
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. ( 21659346 )
2011
40
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. ( 20569259 )
2011
41
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. ( 20022637 )
2010
42
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. ( 20435624 )
2010
43
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. ( 21113082 )
2010
44
Pathophysiology and management of inherited bone marrow failure syndromes. ( 20417588 )
2010
45
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. ( 20507306 )
2010
46
Bone marrow transplantation for inherited bone marrow failure syndromes. ( 20307716 )
2010
47
Inherited bone marrow failure syndromes. ( 20675743 )
2010
48
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. ( 18595958 )
2008
49
Bone marrow cell cycle markers in inherited bone marrow failure syndromes. ( 18606449 )
2008
50
Diagnosis, genetics, and management of inherited bone marrow failure syndromes. ( 18024606 )
2007

Variations for Inherited Bone Marrow Failure Syndromes

ClinVar genetic disease variations for Inherited Bone Marrow Failure Syndromes:

6
id 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.983+1G> A single nucleotide variant Pathogenic rs368148362 GRCh37 Chromosome 5, 34941289: 34941289
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.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs770282904 GRCh38 Chromosome 5, 34938907: 34938907

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:

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 8.8 DNAJC21 SBDS TERT

Sources for Inherited Bone Marrow Failure Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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