BMFS
MCID: INH011
MIFTS: 32

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 20
Inherited Bone Marrow Failure Syndrome 29 6 71
Bmfs 20

Classifications:



External Ids:

UMLS 71 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 dyskeratosis congenita and diamond-blackfan anemia. An important gene associated with Inherited Bone Marrow Failure Syndromes is DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone 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 Bone Marrow Failure Syndrome 6

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 30.0 TERT TERC SBDS DNAJC21
2 diamond-blackfan anemia 30.0 TERT TERC SBDS DNAJC21
3 shwachman-diamond syndrome 1 30.0 TERT TERC SBDS DNAJC21
4 myelodysplastic syndrome 29.9 TERT TERC SBDS
5 aplastic anemia 29.8 TERT TERC SBDS
6 dyskeratosis congenita, x-linked 29.6 TERT TERC
7 pancytopenia 29.6 TERT DNAJC21
8 dyskeratosis congenita, autosomal dominant 3 11.2
9 bone marrow failure syndrome 2 10.9
10 bone marrow failure syndrome 3 10.9
11 bone marrow failure syndrome 4 10.9
12 bone marrow failure syndrome 5 10.9
13 amed syndrome, digenic 10.9
14 fanconi anemia, complementation group a 10.9
15 leukemia, acute myeloid 10.6
16 severe congenital neutropenia 10.6
17 neutropenia 10.6
18 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
19 thrombocytopenia 10.5
20 amegakaryocytic thrombocytopenia, congenital 10.3
21 deficiency anemia 10.3
22 paroxysmal nocturnal hemoglobinuria 10.3
23 hemosiderosis 10.3
24 hemoglobinuria 10.3
25 rare hereditary hemochromatosis 10.3
26 diamond-blackfan anemia 6 10.2
27 myeloid leukemia 10.2
28 cytokine deficiency 10.2
29 microcephaly 10.2
30 retinal detachment 10.1
31 fanconi anemia, complementation group d2 10.1
32 immune deficiency disease 10.1
33 osteogenic sarcoma 10.1
34 coats disease 10.1
35 bone mineral density quantitative trait locus 3 10.1
36 graft-versus-host disease 10.1
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
38 thrombocytopenia 5 10.1
39 fanconi anemia, complementation group t 10.1
40 mirage syndrome 10.1
41 ptosis 10.1
42 microphthalmia 10.1
43 entropion 10.1
44 leukemia 10.1
45 cicatricial entropion 10.1
46 hypogonadism 10.1
47 pulmonary fibrosis 10.1
48 blepharitis 10.1
49 etv6 thrombocytopenia and predisposition to leukemia 10.1
50 acute graft versus host disease 10.1

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
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
5
Mycophenolic acid Approved Phase 2 24280-93-1 446541
6
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
7
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9 Adjuvants, Immunologic Phase 2
10 Immunologic Factors Phase 2
11 Immunosuppressive Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Antitubercular Agents Phase 2
14 Antineoplastic Agents, Immunological Phase 2
15 Anti-Infective Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Antirheumatic Agents Phase 2
18 Alkylating Agents Phase 2
19 Calcineurin Inhibitors Phase 2

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 Phase II Trial of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Primary Immune Deficiencies, Immune Dysregulatory Syndromes, and Inherited Bone Marrow Failure Syndromes Using Post-Transplant Cyclophosphamide Recruiting NCT04232085 Phase 2 Alemtuzumab;Fludarabine;Melphalan;Cyclophosphamide;Tacrolimus;Mycophenolate Mofetil
3 Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes Unknown status NCT02556359
4 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274

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:

40
Bone Marrow, Bone, Myeloid, Neutrophil

Publications for Inherited Bone Marrow Failure Syndromes

Articles related to Inherited Bone Marrow Failure Syndromes:

(show top 50) (show all 308)
# Title Authors PMID Year
1
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts. 61
33491597 2021
2
Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis. 61
33341069 2021
3
Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes. 61
33159275 2021
4
Implications of hematopoietic stem cells heterogeneity for gene therapies. 61
33589780 2021
5
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. 61
33373325 2021
6
Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1. 61
33514435 2021
7
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency. 61
33512438 2021
8
Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in Fanconi Anemia: Improving Outcomes with Improved Supportive Care in India. 61
32835780 2020
9
Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes. 61
33275667 2020
10
Extrahematopoietic manifestations of the short telomere syndromes. 61
33275732 2020
11
Comparative sequencing data analysis of Ion Torrent and MinION sequencing platforms using a clinical diagnostic haematology panel. 61
32654382 2020
12
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry. 61
33025707 2020
13
Epidemiology of aplastic anemia: a study of 1324 cases. 61
31906834 2020
14
Defective cell proliferation is an attribute of overexpressed Notch1 receptor and impaired autophagy in Fanconi Anemia. 61
32800766 2020
15
Clonal hematopoiesis in the inherited bone marrow failure syndromes. 61
32736377 2020
16
GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes. 61
33066218 2020
17
Diamond-Blackfan anemia. 61
32702755 2020
18
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes. 61
32947577 2020
19
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. 61
32543263 2020
20
T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature. 61
32815886 2020
21
CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients. 61
32703794 2020
22
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers. 61
32571604 2020
23
Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure. 61
32338640 2020
24
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. 61
32630050 2020
25
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry. 61
32128787 2020
26
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia. 61
31982544 2020
27
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. 61
32300648 2020
28
Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. 61
32742115 2020
29
mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment. 61
32150944 2020
30
RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia. 61
32041395 2020
31
The nuclear gene rpl18 regulates erythroid maturation via JAK2-STAT3 signaling in zebrafish model of Diamond-Blackfan anemia. 61
32075953 2020
32
Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure. 61
31990679 2020
33
Monitoring and treatment of MDS in genetically susceptible persons. 61
31808891 2019
34
Nopp140-mediated concentration of telomerase in Cajal bodies regulates telomere length. 61
31664887 2019
35
Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. 61
31754622 2019
36
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. 61
31256854 2019
37
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA-VPS9D1 fusion transcripts in a Fanconi anemia patient. 61
31239491 2019
38
Hereditary myeloid malignancies. 61
31203998 2019
39
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. 61
30604473 2019
40
Rare ribosomopathies: insights into mechanisms of cancer. 61
30670820 2019
41
Clinical features of dyskeratosis congenita in mainland China: case reports and literature review. 61
30604317 2019
42
Revisiting acquired aplastic anaemia: current concepts in diagnosis and management. 61
30324755 2019
43
Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen. 61
31916719 2019
44
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. 61
31839986 2019
45
[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. 61
31281163 2019
46
[Genetic analysis of Japanese patients with Fanconi anemia: novel findings]. 61
31281162 2019
47
Peering through zebrafish to understand inherited bone marrow failure syndromes. 61
30573510 2019
48
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. 61
29081386 2018
49
Myelodysplastic syndromes in children. 61
30222640 2018
50
Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia. 61
30275003 2018

Variations for Inherited Bone Marrow Failure Syndromes

ClinVar genetic disease variations for Inherited Bone Marrow Failure Syndromes:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJC21 NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala) SNV Pathogenic 222063 rs879253818 5:34930018-34930018 5:34929913-34929913
2 DNAJC21 NM_001012339.3(DNAJC21):c.983+1G>A SNV Pathogenic 222066 rs368148362 5:34941289-34941289 5:34941184-34941184
3 DNAJC21 NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) SNV Pathogenic 222064 rs150576702 5:34937509-34937509 5:34937404-34937404
4 DNAJC21 NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter) SNV Pathogenic 222065 rs770282904 5:34939012-34939012 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 chromosome, telomeric region GO:0000781 9.16 TERT TERC
2 telomerase holoenzyme complex GO:0005697 8.96 TERT TERC
3 telomerase catalytic core complex GO:0000333 8.62 TERT TERC

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 TERT TERC
2 DNA biosynthetic process GO:0071897 9.16 TERT TERC
3 negative regulation of cellular senescence GO:2000773 8.96 TERT TERC
4 telomere maintenance via telomerase GO:0007004 8.62 TERT TERC

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 TERT TERC
2 telomerase activity GO:0003720 8.96 TERT TERC
3 telomerase RNA reverse transcriptase activity GO:0003721 8.62 TERT TERC

Sources for Inherited Bone Marrow Failure Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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