BMFS
MCID: INH011
MIFTS: 27

Inherited Bone Marrow Failure Syndromes (BMFS) malady

Categories: Rare diseases, Bone diseases, Immune diseases

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

Aliases & Descriptions for Inherited Bone Marrow Failure Syndromes:

Name: Inherited Bone Marrow Failure Syndromes 50 29
Bmfs 50

Classifications:



Summaries for Inherited Bone Marrow Failure Syndromes

MalaCards based summary : Inherited Bone Marrow Failure Syndromes, also known as bmfs, is related to dyskeratosis congenita, autosomal dominant 3 and bone marrow failure syndrome 2. An important gene associated with Inherited Bone Marrow Failure Syndromes is HBG2 (Hemoglobin Subunit Gamma 2). The drugs Lenograstim and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and neutrophil.

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 92)
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,Phase 1,Early Phase 1 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
5
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
6
Melphalan Approved Phase 2 148-82-3 4053 460612
7
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Fludarabine Approved Phase 1, Phase 2, Early Phase 1 21679-14-1, 75607-67-9 30751
11
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
12
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
14
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
15
Vidarabine Approved Phase 2,Early Phase 1 24356-66-9 32326 21704
16
Acetaminophen Approved Phase 2 103-90-2 1983
17
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
18
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
19
Hydroxyurea Approved Phase 2 127-07-1 3657
20
Promethazine Approved Phase 2 60-87-7 4927
21
Thiotepa Approved Phase 2 52-24-4 5453
22
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
23
Everolimus Approved Phase 2 159351-69-6 6442177
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
25
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
26
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Adjuvants, Immunologic Phase 2
33 Alkylating Agents Phase 2,Phase 1,Early Phase 1
34 Antiemetics Phase 2
35 Antifungal Agents Phase 2
36 Anti-Infective Agents Phase 2,Early Phase 1
37 Anti-Inflammatory Agents Phase 2,Phase 1
38 Antilymphocyte Serum Phase 2
39 Antineoplastic Agents, Alkylating Phase 2,Phase 1,Early Phase 1
40 Antineoplastic Agents, Hormonal Phase 2,Phase 1
41 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
42 Autonomic Agents Phase 2
43 Calcineurin Inhibitors Phase 2
44 Dermatologic Agents Phase 2
45 Gastrointestinal Agents Phase 2
46 glucocorticoids Phase 2,Phase 1
47 Hormone Antagonists Phase 2,Phase 1
48 Hormones Phase 2,Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
50 Immunosuppressive Agents Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show all 30)
id Name Status NCT ID Phase
1 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
2 Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes Completed NCT00004143 Phase 2
3 Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Other Hematologic or Metabolic Diseases Completed NCT00003662 Phase 2
4 Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome (WAS) Completed NCT00885833 Phase 1, Phase 2
5 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
7 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2
8 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerou Recruiting NCT00358657 Phase 2
9 HLA-Identical Sibling Donor Bone Marrow Transplantation for Individuals With Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen Recruiting NCT02776202 Phase 2
10 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
11 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
12 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
13 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1
14 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
15 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
16 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
17 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666
18 Chemotherapy With CD133+ Select Autologous Hematopoietic Stem Cells for Children With Solid Tumors and Lymphomas Completed NCT00152126
19 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
20 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
21 Pre-myeloid Cancer and Bone Marrow Failure Clinic Study Recruiting NCT02958462
22 Unrelated And Partially Matched Related Donor PSCT w/ TCR αβ Depletion for Patients With BMF Recruiting NCT03047746
23 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
24 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
25 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
26 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
27 Clinical and Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
28 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092
29 cliniMACs HUD for T Cell Depletion Available NCT02915406
30 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592

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, Neutrophil, Myeloid

Publications for Inherited Bone Marrow Failure Syndromes

Articles related to Inherited Bone Marrow Failure Syndromes:

(show all 43)
id Title Authors Year
1
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
2
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
3
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26872907 )
2016
4
Neonatal manifestations of inherited bone marrow failure syndromes. ( 26724991 )
2016
5
Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China. ( 27358883 )
2015
6
Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26052913 )
2015
7
Inherited bone marrow failure syndromes. ( 26218202 )
2015
8
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. ( 26136524 )
2015
9
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
10
Immune status of patients with inherited bone marrow failure syndromes. ( 25963299 )
2015
11
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. ( 24612308 )
2014
12
Reduced Serum Levels of Anti-MA1llerian Hormone in Females with Inherited Bone Marrow Failure Syndromes. ( 25405500 )
2014
13
Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies. ( 26835351 )
2014
14
Current insights into inherited bone marrow failure syndromes. ( 25210520 )
2014
15
Presence of paroxysmal nocturnal hemoglobinuria clones does not exclude inherited bone marrow failure syndromes. ( 24750478 )
2014
16
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. ( 25540896 )
2014
17
Telomere length in inherited bone marrow failure syndromes. ( 25304614 )
2014
18
Inherited bone marrow failure syndromes in adolescents and young adults. ( 24888387 )
2014
19
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
20
The inherited bone marrow failure syndromes. ( 24237972 )
2013
21
Inherited bone marrow failure syndromes in 2012. ( 23271412 )
2013
22
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. ( 23889587 )
2013
23
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. ( 23713742 )
2013
24
Genomic characterization of the inherited bone marrow failure syndromes. ( 24246701 )
2013
25
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. ( 24295807 )
2013
26
Recent insights into inherited bone marrow failure syndromes. ( 22227778 )
2012
27
Neutrophil functions in patients with inherited bone marrow failure syndromes. ( 21671367 )
2011
28
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. ( 21659346 )
2011
29
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. ( 20569259 )
2011
30
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. ( 20507306 )
2010
31
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. ( 21113082 )
2010
32
Inherited bone marrow failure syndromes. ( 20675743 )
2010
33
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. ( 20022637 )
2010
34
Bone marrow transplantation for inherited bone marrow failure syndromes. ( 20307716 )
2010
35
Pathophysiology and management of inherited bone marrow failure syndromes. ( 20417588 )
2010
36
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. ( 20435624 )
2010
37
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. ( 18595958 )
2008
38
Bone marrow cell cycle markers in inherited bone marrow failure syndromes. ( 18606449 )
2008
39
Current diagnosis of inherited bone marrow failure syndromes. ( 17454774 )
2007
40
Diagnosis, genetics, and management of inherited bone marrow failure syndromes. ( 18024606 )
2007
41
Inherited bone marrow failure syndromes: molecular features. ( 17124042 )
2006
42
Dyskeratosis congenita: an inherited bone marrow failure syndrome. ( 8616066 )
1996
43
Cytokine treatment of inherited bone marrow failure syndromes. ( 8461458 )
1993

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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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