MCID: INH011
MIFTS: 28

Inherited Bone Marrow Failure Syndromes

Categories: Rare diseases, Immune diseases, Bone diseases

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

MalaCards integrated aliases for Inherited Bone Marrow Failure Syndromes:

Name: Inherited Bone Marrow Failure Syndromes 49
Inherited Bone Marrow Failure Syndrome 28 69
Bmfs 49

Classifications:



External Ids:

UMLS 69 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 shwachman-diamond 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

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 19)
# 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 Adjuvants, Immunologic Phase 2
4 Hormone Antagonists Phase 1, Phase 2
5 Hormones Phase 1, Phase 2
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
7 Estrogen Antagonists Phase 1, Phase 2
8 Estrogens Phase 1, Phase 2
9
Cyclophosphamide Approved, Investigational Early Phase 1 50-18-0, 6055-19-2 2907
10
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
11
Vidarabine Approved, Investigational Early Phase 1 24356-66-9 21704 32326
12
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
13 Alkylating Agents Early Phase 1
14 Anti-Infective Agents Early Phase 1
15 Immunosuppressive Agents Early Phase 1
16 Antimetabolites Early Phase 1
17 Antimetabolites, Antineoplastic Early Phase 1
18 Antirheumatic Agents Early Phase 1
19 Antiviral 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
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
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 28

Anatomical Context for Inherited Bone Marrow Failure Syndromes

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

38
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 58)
# Title Authors Year
1
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
2
Pregnancy outcomes in inherited bone marrow failure syndromes. ( 28798157 )
2017
3
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. ( 29222241 )
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
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. ( 28637614 )
2017
6
Monosomy 7/del (7q) in inherited bone marrow failure syndromes: A systematic review. ( 28708320 )
2017
7
Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. ( 28838890 )
2017
8
Bone mineral density in patients with inherited bone marrow failure syndromes. ( 28486441 )
2017
9
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. ( 28801981 )
2017
10
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes. ( 28623394 )
2017
11
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. ( 28102861 )
2017
12
Inherited bone marrow failure syndromes: considerations pre- and posttransplant. ( 29167174 )
2017
13
Paroxysmal nocturnal hemoglobinuria clones are not infrequent in patients with inherited bone marrow failure syndromes. ( 28452421 )
2017
14
The clinical impact of copy number variants in inherited bone marrow failure syndromes. ( 28690869 )
2017
15
Treatment of inherited bone marrow failure syndromes beyond transplantation. ( 29222242 )
2017
16
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. ( 29222240 )
2017
17
Neonatal manifestations of inherited bone marrow failure syndromes. ( 26724991 )
2016
18
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26872907 )
2016
19
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
20
Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China. ( 27358883 )
2015
21
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
22
Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. ( 26052913 )
2015
23
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. ( 26136524 )
2015
24
Inherited bone marrow failure syndromes. ( 26218202 )
2015
25
Immune status of patients with inherited bone marrow failure syndromes. ( 25963299 )
2015
26
Reduced Serum Levels of Anti-MA1llerian Hormone in Females with Inherited Bone Marrow Failure Syndromes. ( 25405500 )
2014
27
Inherited bone marrow failure syndromes in adolescents and young adults. ( 24888387 )
2014
28
Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. ( 25540896 )
2014
29
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
30
Current insights into inherited bone marrow failure syndromes. ( 25210520 )
2014
31
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. ( 24612308 )
2014
32
Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies. ( 26835351 )
2014
33
Telomere length in inherited bone marrow failure syndromes. ( 25304614 )
2014
34
Presence of paroxysmal nocturnal hemoglobinuria clones does not exclude inherited bone marrow failure syndromes. ( 24750478 )
2014
35
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. ( 24295807 )
2013
36
Inherited bone marrow failure syndromes in 2012. ( 23271412 )
2013
37
Genomic characterization of the inherited bone marrow failure syndromes. ( 24246701 )
2013
38
The inherited bone marrow failure syndromes. ( 24237972 )
2013
39
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. ( 23713742 )
2013
40
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. ( 23889587 )
2013
41
Recent insights into inherited bone marrow failure syndromes. ( 22227778 )
2012
42
Neutrophil functions in patients with inherited bone marrow failure syndromes. ( 21671367 )
2011
43
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. ( 21659346 )
2011
44
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. ( 20569259 )
2011
45
Bone marrow transplantation for inherited bone marrow failure syndromes. ( 20307716 )
2010
46
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. ( 21113082 )
2010
47
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. ( 20507306 )
2010
48
Pathophysiology and management of inherited bone marrow failure syndromes. ( 20417588 )
2010
49
Inherited bone marrow failure syndromes. ( 20675743 )
2010
50
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. ( 20022637 )
2010

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.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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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