BMFS
MCID: INH011
MIFTS: 34

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 70
Bmfs 20

Classifications:



External Ids:

UMLS 70 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 fanconi anemia, complementation group a and fanconi anemia, complementation group d2. An important gene associated with Inherited Bone Marrow Failure Syndromes is DNAJC21 (DnaJ Heat Shock Protein Family (Hsp40) Member C21). The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotype is skeleton.

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 96)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 30.7 TERC SBDS FANCC BRCA2
2 fanconi anemia, complementation group d2 30.1 FANCC BRCA2
3 diamond-blackfan anemia 29.8 TERT TERC SBDS RPS26 DNAJC21
4 pancytopenia 29.8 TERT FANCC DNAJC21
5 shwachman-diamond syndrome 1 29.7 TERT TERC SBDS RPS26 DNAJC21
6 leukemia, acute myeloid 29.7 TERT SBDS FANCC DNAJC21 BRCA2
7 dyskeratosis congenita, x-linked 29.7 TERT TERC
8 deficiency anemia 29.6 TERC RPS26 HBG2 FANCC BRCA2
9 dyskeratosis congenita 29.6 TERT TERC SBDS RPS26 FANCC DNAJC21
10 aplastic anemia 29.5 TERT TERC SBDS FANCC BRCA2
11 dyskeratosis congenita, autosomal dominant 3 11.2
12 bone marrow failure syndrome 2 10.9
13 bone marrow failure syndrome 3 10.9
14 bone marrow failure syndrome 4 10.9
15 bone marrow failure syndrome 5 10.9
16 amed syndrome, digenic 10.9
17 myelodysplastic syndrome 10.6
18 severe congenital neutropenia 10.6
19 neutropenia 10.6
20 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
21 amegakaryocytic thrombocytopenia, congenital 10.4
22 thrombocytopenia 10.4
23 diamond-blackfan anemia 1 10.3
24 paroxysmal nocturnal hemoglobinuria 10.3
25 hemosiderosis 10.3
26 hemoglobinuria 10.3
27 myeloid leukemia 10.3
28 rare hereditary hemochromatosis 10.3
29 diamond-blackfan anemia 6 10.2
30 diamond-blackfan anemia 10 10.2
31 tumor predisposition syndrome 10.2
32 cutaneous telangiectasia and cancer syndrome, familial 10.2
33 cytokine deficiency 10.2
34 inherited cancer-predisposing syndrome 10.2
35 cancerophobia 10.2 BRCA2 AMH
36 nosophobia 10.2 BRCA2 AMH
37 microcephaly 10.2
38 tracheoesophageal fistula with or without esophageal atresia 10.2 FANCC BRCA2
39 fanconi anemia, complementation group n 10.1 FANCC BRCA2
40 fanconi anemia, complementation group f 10.1 FANCC BRCA2
41 fanconi anemia, complementation group d1 10.1 FANCC BRCA2
42 retinal detachment 10.1
43 thrombocythemia 1 10.1
44 cohen syndrome 10.1
45 fanconi anemia, complementation group c 10.1
46 glycogen storage disease ib 10.1
47 immune deficiency disease 10.1
48 osteogenic sarcoma 10.1
49 coats disease 10.1
50 bone mineral density quantitative trait locus 3 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

MGI Mouse Phenotypes related to Inherited Bone Marrow Failure Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 BRCA2 DNAJC21 FANCC SBDS SLC37A4 TERT

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
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
2
Lenograstim Approved, Investigational Phase 2 135968-09-1
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Melphalan Approved Phase 2 148-82-3 4053 460612
5
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Mycophenolic acid Approved Phase 2 24280-93-1 446541
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9 Adjuvants, Immunologic Phase 2
10 Immunologic Factors Phase 2
11 Antibiotics, Antitubercular Phase 2
12 Immunosuppressive Agents Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Antirheumatic Agents Phase 2
15 Alkylating Agents Phase 2
16 Anti-Bacterial Agents Phase 2
17 Antitubercular Agents Phase 2
18 Anti-Infective 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
5 The Evaluating Multidisciplinary Bone Marrow Failure Care in Bone Marrow Failure and Related Disorders.(The EMBRACE Study) Not yet recruiting NCT04819607

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, Tongue, Neutrophil

Publications for Inherited Bone Marrow Failure Syndromes

Articles related to Inherited Bone Marrow Failure Syndromes:

(show top 50) (show all 313)
# Title Authors PMID Year
1
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. 6
27346687 2016
2
Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts. 61
33491597 2021
3
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes. 61
33718801 2021
4
Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis. 61
33341069 2021
5
Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists. 61
33802366 2021
6
Squamous cell carcinoma of the tongue in 5-year-old girl with dyskeratosis congenita. 61
33736925 2021
7
Beyond DNA repair and chromosome instability-Fanconi anaemia as a cellular senescence-associated syndrome. 61
33723374 2021
8
Implications of hematopoietic stem cells heterogeneity for gene therapies. 61
33589780 2021
9
Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes. 61
33159275 2021
10
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. 61
33373325 2021
11
Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1. 61
33514435 2021
12
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency. 61
33512438 2021
13
Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in Fanconi Anemia: Improving Outcomes with Improved Supportive Care in India. 61
32835780 2020
14
Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes. 61
33275667 2020
15
Extrahematopoietic manifestations of the short telomere syndromes. 61
33275732 2020
16
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
17
Epidemiology of aplastic anemia: a study of 1324 cases. 61
31906834 2020
18
Comparative sequencing data analysis of Ion Torrent and MinION sequencing platforms using a clinical diagnostic haematology panel. 61
32654382 2020
19
Defective cell proliferation is an attribute of overexpressed Notch1 receptor and impaired autophagy in Fanconi Anemia. 61
32800766 2020
20
Clonal hematopoiesis in the inherited bone marrow failure syndromes. 61
32736377 2020
21
GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes. 61
33066218 2020
22
Diamond-Blackfan anemia. 61
32702755 2020
23
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
24
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations. 61
32543263 2020
25
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
26
CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients. 61
32703794 2020
27
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers. 61
32571604 2020
28
Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure. 61
32338640 2020
29
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes. 61
32630050 2020
30
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry. 61
32128787 2020
31
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia. 61
31982544 2020
32
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. 61
32300648 2020
33
Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. 61
32742115 2020
34
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
35
RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia. 61
32041395 2020
36
The nuclear gene rpl18 regulates erythroid maturation via JAK2-STAT3 signaling in zebrafish model of Diamond-Blackfan anemia. 61
32075953 2020
37
Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure. 61
31990679 2020
38
Monitoring and treatment of MDS in genetically susceptible persons. 61
31808891 2019
39
Nopp140-mediated concentration of telomerase in Cajal bodies regulates telomere length. 61
31664887 2019
40
Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. 61
31754622 2019
41
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. 61
31256854 2019
42
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA-VPS9D1 fusion transcripts in a Fanconi anemia patient. 61
31239491 2019
43
Hereditary myeloid malignancies. 61
31203998 2019
44
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. 61
30604473 2019
45
Rare ribosomopathies: insights into mechanisms of cancer. 61
30670820 2019
46
Clinical features of dyskeratosis congenita in mainland China: case reports and literature review. 61
30604317 2019
47
Revisiting acquired aplastic anaemia: current concepts in diagnosis and management. 61
30324755 2019
48
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. 61
31839986 2019
49
Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen. 61
31916719 2019
50
[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases]. 61
31281163 2019

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 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.793G>T (p.Glu265Ter) SNV Pathogenic 222065 rs770282904 GRCh37: 5:34939012-34939012
GRCh38: 5:34938907-34938907
3 DNAJC21 NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) SNV Pathogenic 222064 rs150576702 GRCh37: 5:34937509-34937509
GRCh38: 5:34937404-34937404
4 DNAJC21 NM_001012339.3(DNAJC21):c.983+1G>A SNV Pathogenic 222066 rs368148362 GRCh37: 5:34941289-34941289
GRCh38: 5:34941184-34941184

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 telomerase holoenzyme complex GO:0005697 9.16 TERT TERC
2 chromosome, telomeric region GO:0000781 9.13 TERT TERC BRCA2
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 nucleotide-excision repair GO:0006289 9.37 FANCC BRCA2
2 DNA biosynthetic process GO:0071897 9.32 TERT TERC
3 negative regulation of cellular senescence GO:2000773 9.26 TERT TERC
4 telomere maintenance via telomerase GO:0007004 9.16 TERT TERC
5 inner cell mass cell proliferation GO:0001833 8.96 SBDS BRCA2
6 establishment of protein localization to telomere GO:0070200 8.62 TERT BRCA2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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