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BMFS
MCID: INH011
MIFTS: 28

Inherited Bone Marrow Failure Syndromes (BMFS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

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MalaCards integrated aliases for Inherited Bone Marrow Failure Syndromes:

Name: Inherited Bone Marrow Failure Syndromes 19
Inherited Bone Marrow Failure Syndrome 28 5 71
Bmfs 19

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Bone diseases Immune diseases Blood diseases Skin diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C2986691
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Summaries for Inherited Bone Marrow Failure Syndromes

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MalaCards based summary: Inherited Bone Marrow Failure Syndromes, also known as inherited bone marrow failure syndrome, 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 DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). The drugs Lenograstim and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid.
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Related Diseases for Inherited Bone Marrow Failure Syndromes

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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 94)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 3 11.2
2 bone marrow failure syndrome 2 10.9
3 bone marrow failure syndrome 3 10.9
4 bone marrow failure syndrome 4 10.9
5 bone marrow failure syndrome 5 10.9
6 amed syndrome, digenic 10.9
7 fanconi anemia, complementation group a 10.9
8 diamond-blackfan anemia 10.9
9 dyskeratosis congenita 10.9
10 shwachman-diamond syndrome 1 10.8
11 myelodysplastic syndrome 10.7
12 severe congenital neutropenia 10.6
13 neutropenia 10.6
14 leukemia, acute myeloid 10.6
15 acute myeloid leukemia with recurrent genetic anomaly 10.6
16 aplastic anemia 10.6
17 deficiency anemia 10.6
18 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
19 thrombocytopenia 10.5
20 thrombocytopenia-absent radius syndrome 10.4
21 amegakaryocytic thrombocytopenia, congenital 10.4
22 diamond-blackfan anemia 1 10.3
23 diamond-blackfan anemia 6 10.3
24 paroxysmal nocturnal hemoglobinuria 10.3
25 hemoglobinuria 10.3
26 microcephaly 10.3
27 immune deficiency disease 10.2
28 diamond-blackfan anemia 10 10.2
29 immunodeficiency 21 10.2
30 mirage syndrome 10.2
31 pancytopenia 10.2
32 bap1 tumor predisposition syndrome 10.2
33 inherited cancer-predisposing syndrome 10.2
34 fetal hemoglobin quantitative trait locus 1 10.1
35 interstitial lung disease 2 10.1
36 retinal detachment 10.1
37 cohen syndrome 10.1
38 fanconi anemia, complementation group c 10.1
39 fanconi anemia, complementation group d2 10.1
40 glycogen storage disease ib 10.1
41 hypoadrenocorticism, familial 10.1
42 osteogenic sarcoma 10.1
43 adrenal hypoplasia, congenital 10.1
44 coats disease 10.1
45 platelet disorder, familial, with associated myeloid malignancy 10.1
46 bone mineral density quantitative trait locus 3 10.1
47 neutropenia, severe congenital, 3, autosomal recessive 10.1
48 diamond-blackfan anemia 8 10.1
49 dyskeratosis congenita, autosomal dominant 2 10.1
50 fanconi anemia, complementation group g 10.1

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



Diseases related to Inherited Bone Marrow Failure Syndromes
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Symptoms & Phenotypes for Inherited Bone Marrow Failure Syndromes

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Drugs & Therapeutics for Inherited Bone Marrow Failure Syndromes

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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
Melphalan Approved Phase 2 148-82-3 4053 460612
3
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
4
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
6
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
7
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
8 Adjuvants, Immunologic Phase 2
9 Alkylating Agents Phase 2
10 Anti-Bacterial Agents Phase 2
11 Antirheumatic Agents Phase 2
12 Antineoplastic Agents, Alkylating Phase 2
13 Anti-Infective Agents Phase 2
14 Calcineurin Inhibitors Phase 2
15 Antitubercular Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18 Immunosuppressive Agents Phase 2
19 Immunologic Factors 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 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
4 Pre-myeloid Cancer and Bone Marrow Failure Clinic Study Recruiting NCT02958462
5 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
6 Unrelated And Partially Matched Related Donor Peripheral Blood Stem Cell Transplantation (PSCT) With TCR αβ + T Cell And B Cell Depletion For Patients With Acquired And Inherited Bone Marrow Failure Recruiting NCT03047746
7 The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes. Recruiting NCT05012111
8 Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures Recruiting NCT05436587

Search NIH Clinical Center for Inherited Bone Marrow Failure Syndromes

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Genetic Tests for Inherited Bone Marrow Failure Syndromes

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Genetic tests related to Inherited Bone Marrow Failure Syndromes:

# Genetic test Affiliating Genes
1 Inherited Bone Marrow Failure Syndrome 28
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Anatomical Context for Inherited Bone Marrow Failure Syndromes

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Organs/tissues related to Inherited Bone Marrow Failure Syndromes:

MalaCards : Bone Marrow, Bone, Myeloid, T Cells, Lung, Brain, Breast
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Publications for Inherited Bone Marrow Failure Syndromes

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Articles related to Inherited Bone Marrow Failure Syndromes:

(show top 50) (show all 682)
# Title Authors PMID Year
1
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 5
27346687 2016
2
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia. 62
36111525 2022
3
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers. 62
36345163 2022
4
Fludarabine-based Reduced Intensity Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in a Pediatric Patient With Bone Marrow Failure Syndrome Type 3. 62
34935734 2022
5
Inflammation fuels bone marrow exhaustion caused by Samd9l mutation. 62
36317635 2022
6
Inherited bone marrow failure syndromes: a review of current practices and potential future research directions. 62
36354296 2022
7
Bioaccumulation of perfluoroalkyl substances in the lake Erie food web. 62
36400140 2022
8
Bioamplification and Biomagnification of Polycyclic Aromatic Hydrocarbons and Halogenated Organic Pollutants in Moths from an Electronic Waste Recycling Site. 62
35848762 2022
9
Trophic transfer of PFAS from tomato (Solanum lycopersicum) to tobacco hornworm (Manduca sexta) caterpillars. 62
35926738 2022
10
Biomagnification of Persistent Organic Pollutants from Terrestrial and Aquatic Invertebrates to Songbirds: Associations with Physiochemical and Ecological Indicators. 62
35952373 2022
11
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children. 62
35295078 2022
12
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia. 62
36057918 2022
13
FANCL supports Parkin-mediated mitophagy in a ubiquitin ligase-independent manner. 62
35644338 2022
14
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes. 62
35776903 2022
15
Trophic Dynamics of Mercury in the Baltic Archipelago Sea Food Web: The Impact of Ecological and Ecophysiological Traits. 62
35921287 2022
16
Trophic transfer of methylmercury and brominated flame retardants in adjacent riparian and aquatic food webs: 13C indicates biotransport of contaminants through food webs. 62
35550129 2022
17
Waterborne and Dietary Bioaccumulation of Organophosphate Esters in Zooplankton Daphnia magna. 62
35954739 2022
18
Somatic compensation of inherited bone marrow failure. 62
36115694 2022
19
Fucoidan-Mediated Inhibition of Fibrotic Properties in Oral Submucous Fibrosis via the MEG3/miR-181a/Egr1 Axis. 62
35890132 2022
20
Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia. 62
35460833 2022
21
Clinical significance of tumor-infiltrating lymphocytes investigated using routine H&E slides in small cell lung cancer. 62
35850908 2022
22
Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes. 62
35633493 2022
23
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia. 62
35854323 2022
24
A CT-based radiomics model to predict subsequent brain metastasis in patients with ALK-rearranged non-small cell lung cancer undergoing crizotinib treatment. 62
35437945 2022
25
Inhibition of miR-497 Attenuates Oral Submucous Fibrosis by Inhibiting Myofibroblast Transdifferentiation in Buccal Mucosal Fibroblasts. 62
35920886 2022
26
Down-regulation of miR-29c promotes the progression of oral submucous fibrosis through targeting tropomyosin-1. 62
34696938 2022
27
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects. 62
35822684 2022
28
Diagnosis and Management of Acquired Aplastic Anemia: Consensus Statement of Indian Academy of Pediatrics. 62
35105820 2022
29
A Systematic Review of the Role of Runt-Related Transcription Factor 1 (RUNX1) in the Pathogenesis of Hematological Malignancies in Patients With Inherited Bone Marrow Failure Syndromes. 62
35765406 2022
30
Paeonol inhibits profibrotic signaling and HOTAIR expression in fibrotic buccal mucosal fibroblasts. 62
34696937 2022
31
Fanconi anaemia: A syndrome with distinct subgroups. 62
35191533 2022
32
Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. 62
35590014 2022
33
Bioaccumulation of polyfluoroalkyl substances in the Lake Huron aquatic food web. 62
35007599 2022
34
Mercury concentrations, biomagnification and isotopic discrimination factors in two seabird species from the Humboldt Current ecosystem. 62
35245770 2022
35
Bundle myelin fraction (BMF) mapping of different white matter connections using microstructure informed tractography. 62
35063648 2022
36
Novel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome. 62
35453634 2022
37
Genetics and genomics of bone marrow failure syndrome. 62
35483932 2022
38
Etiologies of hearing loss in Fanconi Anemia. 62
35202898 2022
39
miR-21 promotes the fibrotic properties in oral mucosa through targeting PDCD4. 62
35756803 2022
40
The functional roles of microRNAs in the pathogenesis of oral submucous fibrosis. 62
35756801 2022
41
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects. 62
35007328 2022
42
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes. 62
34897809 2022
43
De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia. 62
35084091 2022
44
Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia. 62
35073572 2022
45
Overview of inherited bone marrow failure syndromes. 62
35483926 2022
46
A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency. 62
35488219 2022
47
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. 62
35322185 2022
48
Stress hematopoiesis induces a proliferative advantage in TET2 deficiency. 62
34588613 2022
49
Occurrence and Distribution of Persistent Organic Pollutants (POPs) in Amphibian Species: Implications from Biomagnification Factors Based on Quantitative Fatty Acid Signature Analysis. 62
35113557 2022
50
Disease progression and clinical outcomes in telomere biology disorders. 62
34852175 2022
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Variations for Inherited Bone Marrow Failure Syndromes

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ClinVar genetic disease variations for Inherited Bone Marrow Failure Syndromes:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC21 NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala) SNV Pathogenic
 222063 rs879253818 GRCh37: 5:34930018-34930018
GRCh38: 5:34929913-34929913
2 DNAJC21 NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) SNV Pathogenic
 222064 rs150576702 GRCh37: 5:34937509-34937509
GRCh38: 5:34937404-34937404
3 DNAJC21 NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter) SNV Pathogenic
 222065 rs770282904 GRCh37: 5:34939012-34939012
GRCh38: 5:34938907-34938907
4 DNAJC21 NM_001012339.3(DNAJC21):c.983+1G>A SNV Pathogenic
 222066 rs368148362 GRCh37: 5:34941289-34941289
GRCh38: 5:34941184-34941184
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Expression for Inherited Bone Marrow Failure Syndromes

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

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GO Terms for Inherited Bone Marrow Failure Syndromes

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Sources for Inherited Bone Marrow Failure Syndromes

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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