BMFS1
MCID: BNM010
MIFTS: 30

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 74 29 6 72
Bmfs1 57 74
Autosomal Dominant Aplastic Anemia and Myelodysplasia 59
Autosomal Dominant Aplasia and Myelodysplasia 59
Bone Marrow Failure Syndrome, Type 1 40
Bone Marrow Failure, Familial 13
Familial Bone Marrow Failure 74
Bmff 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant aplasia and myelodysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
bone marrow failure syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

ICD10 via Orphanet 34 D61.0
Orphanet 59 ORPHA314399
UMLS 72 C3808553

Summaries for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot : 74 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 bone marrow failure syndrome 2 and bone marrow failure syndrome 3. An important gene associated with Bone Marrow Failure Syndrome 1 is SRP72 (Signal Recognition Particle 72). Affiliated tissues include bone and bone marrow, and related phenotypes are hearing impairment and bone marrow hypocellularity

More information from OMIM: 614675 PS614675

Related Diseases for Bone Marrow Failure Syndrome 1

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:

32 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 bone marrow hypocellularity 32 HP:0005528
3 aplastic anemia 32 HP:0001915
4 myelodysplasia 32 HP:0002863

Symptoms via clinical synopsis from OMIM:

57
Hematology:
pancytopenia
aplastic anemia
myelodysplasia

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

Clinical features from OMIM:

614675

Drugs & Therapeutics for Bone Marrow Failure Syndrome 1

Search Clinical Trials , NIH Clinical Center for Bone Marrow Failure Syndrome 1

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:

41
Bone, Bone Marrow

Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

(showing 3, show less)
# Title Authors PMID Year
1
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. 8 71
22541560 2012
2
A patient with familial bone marrow failure and an inversion of chromosome 8. 38
22042281 2011
3
Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. 38
19779378 2009

Variations for Bone Marrow Failure Syndrome 1

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

6 (showing 55, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SRP72 NM_006947.4(SRP72): c.1060_1061CA[2] (p.Thr355fs) short repeat Pathogenic rs587776907 4:57351008-57351009 4:56484842-56484843
2 SRP72 NM_006947.4(SRP72): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs387907189 4:57342846-57342846 4:56476680-56476680
3 SRP72 NM_006947.4(SRP72): c.294G> A (p.Leu98=) single nucleotide variant Uncertain significance rs145137299 4:57337949-57337949 4:56471783-56471783
4 SRP72 NM_006947.4(SRP72): c.133G> A (p.Val45Ile) single nucleotide variant Uncertain significance rs201940585 4:57335842-57335842 4:56469676-56469676
5 SRP72 NM_006947.4(SRP72): c.*321A> G single nucleotide variant Uncertain significance rs886059499 4:57368348-57368348 4:56502182-56502182
6 SRP72 NM_006947.4(SRP72): c.*606A> T single nucleotide variant Uncertain significance rs868279024 4:57368633-57368633 4:56502467-56502467
7 SRP72 NM_006947.4(SRP72): c.*635C> T single nucleotide variant Uncertain significance rs200981113 4:57368662-57368662 4:56502496-56502496
8 SRP72 NM_006947.4(SRP72): c.*637_*638TA[7] short repeat Uncertain significance rs35852754 4:57368678-57368679 4:56502512-56502513
9 SRP72 NM_006947.4(SRP72): c.*1678C> T single nucleotide variant Uncertain significance rs886059503 4:57369705-57369705 4:56503539-56503539
10 SRP72 NM_006947.4(SRP72): c.*1769T> G single nucleotide variant Uncertain significance rs886059504 4:57369796-57369796 4:56503630-56503630
11 SRP72 NM_006947.4(SRP72): c.*839T> C single nucleotide variant Uncertain significance rs757066668 4:57368866-57368866 4:56502700-56502700
12 SRP72 NM_006947.4(SRP72): c.*637_*638TA[11] short repeat Uncertain significance rs35852754 4:57368674-57368679 4:56502508-56502513
13 SRP72 NM_006947.4(SRP72): c.*125_*126GT[1] short repeat Uncertain significance rs886059498 4:57368154-57368155 4:56501988-56501989
14 SRP72 NM_006947.4(SRP72): c.973A> G (p.Lys325Glu) single nucleotide variant Uncertain significance rs763655714 4:57350917-57350917 4:56484751-56484751
15 SRP72 NM_006947.4(SRP72): c.*637_*638TA[9] short repeat Uncertain significance rs35852754 4:57368678-57368679 4:56502512-56502513
16 SRP72 NM_006947.4(SRP72): c.*1227_*1232del deletion Uncertain significance rs886059502 4:57369254-57369259 4:56503088-56503093
17 SRP72 NM_006947.4(SRP72): c.*606_*607AT[10] short repeat Uncertain significance rs201131530 4:57368645-57368648 4:56502479-56502482
18 SRP72 NM_006947.4(SRP72): c.*227G> A single nucleotide variant Uncertain significance rs879875987 4:57368254-57368254 4:56502088-56502088
19 SRP72 NM_006947.4(SRP72): c.1225-6G> A single nucleotide variant Uncertain significance rs752594366 4:57355548-57355548 4:56489382-56489382
20 SRP72 NM_006947.4(SRP72): c.37G> T (p.Ala13Ser) single nucleotide variant Uncertain significance rs781230154 4:57333838-57333838 4:56467672-56467672
21 SRP72 NM_006947.4(SRP72): c.20G> A (p.Gly7Glu) single nucleotide variant Uncertain significance rs139502866 4:57333821-57333821 4:56467655-56467655
22 SRP72 NM_006947.4(SRP72): c.1380T> C (p.Tyr460=) single nucleotide variant Likely benign rs73818109 4:57356558-57356558 4:56490392-56490392
23 SRP72 NM_006947.4(SRP72): c.23G> A (p.Gly8Glu) single nucleotide variant Likely benign rs760960779 4:57333824-57333824 4:56467658-56467658
24 SRP72 NM_006947.4(SRP72): c.789A> G (p.Leu263=) single nucleotide variant Likely benign rs77935196 4:57344779-57344779 4:56478613-56478613
25 SRP72 NM_006947.4(SRP72): c.406G> A (p.Val136Ile) single nucleotide variant Likely benign rs145817936 4:57340271-57340271 4:56474105-56474105
26 SRP72 NM_006947.4(SRP72): c.58C> T (p.Arg20Trp) single nucleotide variant Likely benign rs111673705 4:57333859-57333859 4:56467693-56467693
27 SRP72 NM_006947.4(SRP72): c.*194G> A single nucleotide variant Likely benign rs188713088 4:57368221-57368221 4:56502055-56502055
28 SRP72 NM_006947.4(SRP72): c.1698T> C (p.Tyr566=) single nucleotide variant Likely benign rs145347209 4:57366721-57366721 4:56500555-56500555
29 SRP72 NM_006947.4(SRP72): c.*24G> A single nucleotide variant Likely benign rs144710632 4:57368051-57368051 4:56501885-56501885
30 SRP72 NM_006947.4(SRP72): c.1803G> A (p.Gly601=) single nucleotide variant Likely benign rs143643243 4:57366826-57366826 4:56500660-56500660
31 SRP72 NM_006947.4(SRP72): c.*558T> C single nucleotide variant Likely benign rs568178342 4:57368585-57368585 4:56502419-56502419
32 SRP72 NM_006947.4(SRP72): c.*221A> G single nucleotide variant Likely benign rs149250989 4:57368248-57368248 4:56502082-56502082
33 SRP72 NM_006947.4(SRP72): c.*972G> A single nucleotide variant Likely benign rs189886380 4:57368999-57368999 4:56502833-56502833
34 SRP72 NM_006947.4(SRP72): c.*407T> C single nucleotide variant Likely benign rs541665813 4:57368434-57368434 4:56502268-56502268
35 SRP72 NM_006947.4(SRP72): c.*1764A> G single nucleotide variant Likely benign rs192226722 4:57369791-57369791 4:56503625-56503625
36 SRP72 NM_006947.4(SRP72): c.144G> T (p.Leu48=) single nucleotide variant Likely benign rs112496764 4:57335853-57335853 4:56469687-56469687
37 SRP72 NM_006947.4(SRP72): c.1650T> C (p.Asp550=) single nucleotide variant Likely benign rs202073540 4:57361532-57361532 4:56495366-56495366
38 SRP72 NM_006947.4(SRP72): c.1704A> G (p.Pro568=) single nucleotide variant Likely benign rs41280351 4:57366727-57366727 4:56500561-56500561
39 SRP72 NM_006947.4(SRP72): c.2004A> G (p.Lys668=) single nucleotide variant Likely benign rs148068843 4:57368015-57368015 4:56501849-56501849
40 SRP72 NM_006947.4(SRP72): c.1589T> C (p.Ile530Thr) single nucleotide variant Likely benign rs192401229 4:57357683-57357683 4:56491517-56491517
41 SRP72 NM_006947.4(SRP72): c.1640+6dup duplication Benign/Likely benign rs572508224 4:57357740-57357740 4:56491574-56491574
42 SRP72 NM_006947.4(SRP72): c.686A> G (p.His229Arg) single nucleotide variant Benign rs138986942 4:57344588-57344588 4:56478422-56478422
43 SRP72 NM_006947.4(SRP72): c.19G> T (p.Gly7Trp) single nucleotide variant Benign rs17524437 4:57333820-57333820 4:56467654-56467654
44 SRP72 NM_006947.4(SRP72): c.1410A> G (p.Leu470=) single nucleotide variant Benign rs17086879 4:57356588-57356588 4:56490422-56490422
45 SRP72 NM_006947.4(SRP72): c.*622_*649del deletion Benign rs59791697 4:57368649-57368676 4:56502483-56502510
46 SRP72 NM_006947.4(SRP72): c.1671A> G (p.Lys557=) single nucleotide variant Benign rs34419325 4:57361553-57361553 4:56495387-56495387
47 SRP72 NM_006947.4(SRP72): c.*139G> A single nucleotide variant Benign rs28438730 4:57368166-57368166 4:56502000-56502000
48 SRP72 NM_006947.4(SRP72): c.*173T> C single nucleotide variant Benign rs10051 4:57368200-57368200 4:56502034-56502034
49 SRP72 NM_006947.4(SRP72): c.*442A> G single nucleotide variant Benign rs7762 4:57368469-57368469 4:56502303-56502303
50 SRP72 NM_006947.4(SRP72): c.*780C> T single nucleotide variant Benign rs10518 4:57368807-57368807 4:56502641-56502641
51 SRP72 NM_006947.4(SRP72): c.*1603A> G single nucleotide variant Benign rs1142851 4:57369630-57369630 4:56503464-56503464
52 SRP72 NM_006947.4(SRP72): c.*732A> G single nucleotide variant Benign rs14211 4:57368759-57368759 4:56502593-56502593
53 SRP72 NM_006947.4(SRP72): c.*386G> A single nucleotide variant Benign rs4260596 4:57368413-57368413 4:56502247-56502247
54 SRP72 NM_006947.4(SRP72): c.21G> T (p.Gly7=) single nucleotide variant Benign rs12513091 4:57333822-57333822 4:56467656-56467656
55 SRP72 NM_006947.4(SRP72): c.*1313C> G single nucleotide variant Benign rs113719942 4:57369340-57369340 4:56503174-56503174

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

74 (showing 1, show less)
# 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

Sources for Bone Marrow Failure Syndrome 1

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