BMFS1
MCID: BNM010
MIFTS: 37

Bone Marrow Failure Syndrome 1 (BMFS1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bone Marrow Failure Syndrome 1

MalaCards integrated aliases for Bone Marrow Failure Syndrome 1:

Name: Bone Marrow Failure Syndrome 1 57 72 29 6 70
Bmfs1 57 72
Autosomal Dominant Aplastic Anemia and Myelodysplasia 58
Autosomal Dominant Aplasia and Myelodysplasia 58
Bone Marrow Failure Syndrome, Type 1 39
Bone Marrow Failure, Familial 13
Bone Marrow Failure Disorders 44
Familial Bone Marrow Failure 72
Bmff 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant aplasia and myelodysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
two unrelated families have been reported (last curated june 2012)


HPO:

31
bone marrow failure syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 614675
OMIM Phenotypic Series 57 PS614675
MeSH 44 D000080983
ICD10 via Orphanet 33 D61.0
Orphanet 58 ORPHA314399
UMLS 70 C3808553

Summaries for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot : 72 Bone marrow failure syndrome 1: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional.

MalaCards based summary : Bone Marrow Failure Syndrome 1, also known as bmfs1, is related to aplastic anemia and shwachman-diamond syndrome 1. An important gene associated with Bone Marrow Failure Syndrome 1 is SRP72 (Signal Recognition Particle 72). The drugs Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and thymus, and related phenotypes are hearing impairment and myelodysplasia

Wikipedia : 73 Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white... more...

More information from OMIM: 614675 PS614675

Related Diseases for Bone Marrow Failure Syndrome 1

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 Bone Marrow Failure Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 aplastic anemia 29.4 SRP72 FOXP3 DDX41
2 shwachman-diamond syndrome 1 29.4 SRP72 RPS26 DDX41
3 dyskeratosis congenita 29.4 SRP72 RPS26 DDX41
4 pancytopenia 29.3 TTR FOXP3
5 deficiency anemia 28.9 TTR RPS26 FOXP3
6 bone marrow failure syndrome 2 10.9
7 bone marrow failure syndrome 3 10.9
8 bone marrow failure syndrome 4 10.9
9 bone marrow failure syndrome 5 10.9
10 amed syndrome, digenic 10.9
11 myelodysplastic syndrome 10.1
12 fanconi anemia, complementation group a 10.1
13 diamond-blackfan anemia 10.1
14 thrombocytopenia 10.1
15 leukemia, acute lymphoblastic 10.0
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
17 acute leukemia 10.0
18 inherited bone marrow failure syndromes 10.0
19 acute liver failure 10.0
20 jacobsen syndrome 10.0
21 amegakaryocytic thrombocytopenia, congenital 10.0
22 diamond-blackfan anemia 12 10.0
23 severe congenital neutropenia 10.0
24 paroxysmal nocturnal hemoglobinuria 10.0
25 hemosiderosis 10.0
26 neutropenia 10.0
27 pure red-cell aplasia 10.0
28 lipomatosis 10.0
29 hemoglobinuria 10.0
30 rare hereditary hemochromatosis 10.0
31 arteriosclerosis 9.5 TTR FOXP3

Graphical network of the top 20 diseases related to Bone Marrow Failure Syndrome 1:



Diseases related to Bone Marrow Failure Syndrome 1

Symptoms & Phenotypes for Bone Marrow Failure Syndrome 1

Human phenotypes related to Bone Marrow Failure Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 myelodysplasia 31 HP:0002863
3 bone marrow hypocellularity 31 HP:0005528
4 aplastic anemia 31 HP:0001915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
myelodysplasia
pancytopenia
aplastic anemia

Head And Neck Ears:
deafness (in 1 of 2 families)

Clinical features from OMIM®:

614675 (Updated 05-Apr-2021)

Drugs & Therapeutics for Bone Marrow Failure Syndrome 1

Drugs for Bone Marrow Failure Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3 Alkylating Agents Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3
5 Immunologic Factors Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antimetabolites Phase 2, Phase 3
8 Immunoglobulins, Intravenous Early Phase 1
9 Antibodies Early Phase 1
10 Immunoglobulins Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Phase I Study of Umbilical Cord Blood Transplantation Followed by Third Party Thymus Transplantation Terminated NCT00597441 Phase 1
3 Single Arm Prospective Open Label Pilot Study Evaluating Short-Term Safety and Efficacy of Romiplostim in Children With Inherited and Acquired Disorders of Hematopoietic Failure Recruiting NCT04478227 Early Phase 1 Romiplostim

Search NIH Clinical Center for Bone Marrow Failure Syndrome 1

Cochrane evidence based reviews: bone marrow failure disorders

Genetic Tests for Bone Marrow Failure Syndrome 1

Genetic tests related to Bone Marrow Failure Syndrome 1:

# Genetic test Affiliating Genes
1 Bone Marrow Failure Syndrome 1 29 SRP72

Anatomical Context for Bone Marrow Failure Syndrome 1

MalaCards organs/tissues related to Bone Marrow Failure Syndrome 1:

40
Bone Marrow, Bone, Thymus

Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

# Title Authors PMID Year
1
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. 57 6
22541560 2012
2
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure. 61
32636268 2020
3
A patient with familial bone marrow failure and an inversion of chromosome 8. 61
22042281 2011
4
Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. 61
19779378 2009

Variations for Bone Marrow Failure Syndrome 1

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

6 (show top 50) (show all 82)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SRP72 NM_006947.4(SRP72):c.620G>A (p.Arg207His) SNV Pathogenic 31660 rs387907189 GRCh37: 4:57342846-57342846
GRCh38: 4:56476680-56476680
2 RPS26 NM_001029.5(RPS26):c.1A>C (p.Met1Leu) SNV Pathogenic 598993 rs143951267 GRCh37: 12:56435951-56435951
GRCh38: 12:56042167-56042167
3 SRP72 NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) Microsatellite Pathogenic 31659 rs587776907 GRCh37: 4:57351004-57351005
GRCh38: 4:56484838-56484839
4 FOXP3 NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln) SNV Pathogenic 379222 rs1057520529 GRCh37: X:49107901-49107901
GRCh38: X:49251440-49251440
5 DDX41 NM_016222.4(DDX41):c.3G>A (p.Met1Ile) SNV Pathogenic 224637 rs141601766 GRCh37: 5:176943944-176943944
GRCh38: 5:177516943-177516943
6 TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic 13426 rs76992529 GRCh37: 18:29178618-29178618
GRCh38: 18:31598655-31598655
7 DCC NM_005215.4(DCC):c.1667del (p.Gly556fs) Deletion Likely pathogenic 599011 rs1568364038 GRCh37: 18:50731678-50731678
GRCh38: 18:53205308-53205308
8 COL6A2 NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala) SNV Uncertain significance 598977 rs753298014 GRCh37: 21:47545737-47545737
GRCh38: 21:46125823-46125823
9 DDX41 NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) SNV Uncertain significance 978206 GRCh37: 5:176942740-176942740
GRCh38: 5:177515739-177515739
10 DDX41 NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) SNV Uncertain significance 978208 GRCh37: 5:176939610-176939610
GRCh38: 5:177512609-177512609
11 SRP72 NM_006947.4(SRP72):c.*221A>G SNV Uncertain significance 349141 rs149250989 GRCh37: 4:57368248-57368248
GRCh38: 4:56502082-56502082
12 SRP72 NM_006947.4(SRP72):c.*839T>C SNV Uncertain significance 349157 rs757066668 GRCh37: 4:57368866-57368866
GRCh38: 4:56502700-56502700
13 SRP72 NM_006947.4(SRP72):c.*194G>A SNV Uncertain significance 349140 rs188713088 GRCh37: 4:57368221-57368221
GRCh38: 4:56502055-56502055
14 SRP72 NM_006947.4(SRP72):c.*606A>T SNV Uncertain significance 349149 rs868279024 GRCh37: 4:57368633-57368633
GRCh38: 4:56502467-56502467
15 SRP72 NM_006947.4(SRP72):c.*1764A>G SNV Uncertain significance 349163 rs192226722 GRCh37: 4:57369791-57369791
GRCh38: 4:56503625-56503625
16 SRP72 NM_006947.4(SRP72):c.*606AT[10] Microsatellite Uncertain significance 349148 rs201131530 GRCh37: 4:57368631-57368632
GRCh38: 4:56502465-56502466
17 SRP72 NM_006947.4(SRP72):c.*321A>G SNV Uncertain significance 349143 rs886059499 GRCh37: 4:57368348-57368348
GRCh38: 4:56502182-56502182
18 SRP72 NM_006947.4(SRP72):c.*637TA[11] Microsatellite Uncertain significance 349152 rs35852754 GRCh37: 4:57368662-57368663
GRCh38: 4:56502496-56502497
19 SRP72 NM_006947.4(SRP72):c.*1769T>G SNV Uncertain significance 349164 rs886059504 GRCh37: 4:57369796-57369796
GRCh38: 4:56503630-56503630
20 SRP72 NM_006947.4(SRP72):c.*1227_*1232del Deletion Uncertain significance 349159 rs886059502 GRCh37: 4:57369251-57369256
GRCh38: 4:56503085-56503090
21 SRP72 NM_006947.4(SRP72):c.*1678C>T SNV Uncertain significance 349162 rs886059503 GRCh37: 4:57369705-57369705
GRCh38: 4:56503539-56503539
22 SRP72 NM_006947.4(SRP72):c.*407T>C SNV Uncertain significance 349145 rs541665813 GRCh37: 4:57368434-57368434
GRCh38: 4:56502268-56502268
23 SRP72 NM_006947.4(SRP72):c.*227G>A SNV Uncertain significance 349142 rs879875987 GRCh37: 4:57368254-57368254
GRCh38: 4:56502088-56502088
24 SRP72 NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) SNV Uncertain significance 349124 rs763655714 GRCh37: 4:57350917-57350917
GRCh38: 4:56484751-56484751
25 SRP72 NM_006947.4(SRP72):c.*637TA[9] Microsatellite Uncertain significance 349151 rs35852754 GRCh37: 4:57368662-57368663
GRCh38: 4:56502496-56502497
26 SRP72 NM_006947.4(SRP72):c.*637TA[7] Microsatellite Uncertain significance 349154 rs35852754 GRCh37: 4:57368663-57368664
GRCh38: 4:56502497-56502498
27 SRP72 NM_006947.4(SRP72):c.*125GT[1] Microsatellite Uncertain significance 349137 rs886059498 GRCh37: 4:57368151-57368152
GRCh38: 4:56501985-56501986
28 SRP72 NM_006947.4(SRP72):c.*635C>T SNV Uncertain significance 349153 rs200981113 GRCh37: 4:57368662-57368662
GRCh38: 4:56502496-56502496
29 SRP72 NM_006947.4(SRP72):c.7A>G (p.Ser3Gly) SNV Uncertain significance 904205 GRCh37: 4:57333808-57333808
GRCh38: 4:56467642-56467642
30 SRP72 NM_006947.4(SRP72):c.1938C>G (p.His646Gln) SNV Uncertain significance 904262 GRCh37: 4:57367949-57367949
GRCh38: 4:56501783-56501783
31 SRP72 NM_006947.4(SRP72):c.*142A>G SNV Uncertain significance 904263 GRCh37: 4:57368169-57368169
GRCh38: 4:56502003-56502003
32 SRP72 NM_006947.4(SRP72):c.29C>T (p.Ser10Leu) SNV Uncertain significance 904985 GRCh37: 4:57333830-57333830
GRCh38: 4:56467664-56467664
33 SRP72 NM_006947.4(SRP72):c.*473G>A SNV Uncertain significance 905054 GRCh37: 4:57368500-57368500
GRCh38: 4:56502334-56502334
34 SRP72 NM_006947.4(SRP72):c.*505C>T SNV Uncertain significance 905055 GRCh37: 4:57368532-57368532
GRCh38: 4:56502366-56502366
35 SRP72 NM_006947.4(SRP72):c.574C>G (p.Leu192Val) SNV Uncertain significance 906572 GRCh37: 4:57340521-57340521
GRCh38: 4:56474355-56474355
36 SRP72 NM_006947.4(SRP72):c.979T>C (p.Ser327Pro) SNV Uncertain significance 906573 GRCh37: 4:57350923-57350923
GRCh38: 4:56484757-56484757
37 SRP72 NM_006947.4(SRP72):c.*622G>A SNV Uncertain significance 906638 GRCh37: 4:57368649-57368649
GRCh38: 4:56502483-56502483
38 SRP72 NM_006947.4(SRP72):c.*624A>G SNV Uncertain significance 906639 GRCh37: 4:57368651-57368651
GRCh38: 4:56502485-56502485
39 SRP72 NM_006947.4(SRP72):c.*633T>C SNV Uncertain significance 906640 GRCh37: 4:57368660-57368660
GRCh38: 4:56502494-56502494
40 SRP72 NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) SNV Uncertain significance 907590 GRCh37: 4:57357730-57357730
GRCh38: 4:56491564-56491564
41 SRP72 NM_006947.4(SRP72):c.*1241C>T SNV Uncertain significance 907664 GRCh37: 4:57369268-57369268
GRCh38: 4:56503102-56503102
42 SRP72 NM_006947.4(SRP72):c.*1385A>G SNV Uncertain significance 907665 GRCh37: 4:57369412-57369412
GRCh38: 4:56503246-56503246
43 SRP72 NM_006947.4(SRP72):c.*1478C>A SNV Uncertain significance 907666 GRCh37: 4:57369505-57369505
GRCh38: 4:56503339-56503339
44 SRP72 NM_006947.4(SRP72):c.*1483A>G SNV Uncertain significance 907667 GRCh37: 4:57369510-57369510
GRCh38: 4:56503344-56503344
45 CACNA1A NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) SNV Uncertain significance 386521 rs563345694 GRCh37: 19:13323262-13323262
GRCh38: 19:13212448-13212448
46 SRP72 NM_006947.4(SRP72):c.1225-6G>A SNV Likely benign 349126 rs752594366 GRCh37: 4:57355548-57355548
GRCh38: 4:56489382-56489382
47 SRP72 NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) SNV Likely benign 349132 rs145347209 GRCh37: 4:57366721-57366721
GRCh38: 4:56500555-56500555
48 SRP72 NM_006947.4(SRP72):c.1640+6dup Duplication Likely benign 349129 rs572508224 GRCh37: 4:57357739-57357740
GRCh38: 4:56491573-56491574
49 SRP72 NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) SNV Benign 377137 rs139502866 GRCh37: 4:57333821-57333821
GRCh38: 4:56467655-56467655
50 SRP72 NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) SNV Benign 349117 rs111673705 GRCh37: 4:57333859-57333859
GRCh38: 4:56467693-56467693

UniProtKB/Swiss-Prot genetic disease variations for Bone Marrow Failure Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 SRP72 p.Arg207His VAR_068522 rs387907189

Expression for Bone Marrow Failure Syndrome 1

Search GEO for disease gene expression data for Bone Marrow Failure Syndrome 1.

Pathways for Bone Marrow Failure Syndrome 1

GO Terms for Bone Marrow Failure Syndrome 1

Biological processes related to Bone Marrow Failure Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.62 SRP72 RPS26

Sources for Bone Marrow Failure Syndrome 1

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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