BMFS1
MCID: BNM010
MIFTS: 27

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 75 29 6 73
Bmfs1 57 75
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 75
Bmff 75

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:



Summaries for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot : 75 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, bone marrow and skin, and related phenotypes are hearing impairment and bone marrow hypocellularity

Description from OMIM: 614675

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

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

# Related Disease Score Top Affiliating Genes
1 bone marrow failure syndrome 2 11.1
2 bone marrow failure syndrome 3 11.1
3 bone marrow failure syndrome 4 11.1
4 bone marrow failure syndrome 5 11.1
5 aplastic anemia 9.8
6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
7 hepatitis 9.8

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

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

Human phenotypes related to Bone Marrow Failure Syndrome 1:

32
# 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

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, Skin

Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

# Title Authors Year
1
Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. ( 19779378 )
2009

Variations for Bone Marrow Failure Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 SRP72 p.Arg207His VAR_068522 rs387907189

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRP72 NM_006947.3(SRP72): c.1064_1065delCA (p.Thr355Lysfs) deletion Pathogenic rs587776907 GRCh37 Chromosome 4, 57351008: 57351009
2 SRP72 NM_006947.3(SRP72): c.1064_1065delCA (p.Thr355Lysfs) deletion Pathogenic rs587776907 GRCh38 Chromosome 4, 56484842: 56484843
3 SRP72 NM_006947.3(SRP72): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs387907189 GRCh37 Chromosome 4, 57342846: 57342846
4 SRP72 NM_006947.3(SRP72): c.620G> A (p.Arg207His) single nucleotide variant Pathogenic rs387907189 GRCh38 Chromosome 4, 56476680: 56476680
5 SRP72 NM_006947.3(SRP72): c.1589T> C (p.Ile530Thr) single nucleotide variant Likely benign rs192401229 GRCh38 Chromosome 4, 56491517: 56491517
6 SRP72 NM_006947.3(SRP72): c.1589T> C (p.Ile530Thr) single nucleotide variant Likely benign rs192401229 GRCh37 Chromosome 4, 57357683: 57357683
7 SRP72 NM_006947.3(SRP72): c.21G> T (p.Gly7=) single nucleotide variant Benign rs12513091 GRCh37 Chromosome 4, 57333822: 57333822
8 SRP72 NM_006947.3(SRP72): c.21G> T (p.Gly7=) single nucleotide variant Benign rs12513091 GRCh38 Chromosome 4, 56467656: 56467656
9 SRP72 NM_006947.3(SRP72): c.973A> G (p.Lys325Glu) single nucleotide variant Uncertain significance rs763655714 GRCh38 Chromosome 4, 56484751: 56484751
10 SRP72 NM_006947.3(SRP72): c.973A> G (p.Lys325Glu) single nucleotide variant Uncertain significance rs763655714 GRCh37 Chromosome 4, 57350917: 57350917
11 SRP72 NM_006947.3(SRP72): c.*127_*128delGT deletion Uncertain significance rs886059498 GRCh38 Chromosome 4, 56501988: 56501989
12 SRP72 NM_006947.3(SRP72): c.*127_*128delGT deletion Uncertain significance rs886059498 GRCh37 Chromosome 4, 57368154: 57368155
13 SRP72 NM_006947.3(SRP72): c.*407T> C single nucleotide variant Likely benign rs541665813 GRCh38 Chromosome 4, 56502268: 56502268
14 SRP72 NM_006947.3(SRP72): c.*407T> C single nucleotide variant Likely benign rs541665813 GRCh37 Chromosome 4, 57368434: 57368434
15 SRP72 NM_006947.3(SRP72): c.*647_*652dupTATATA duplication Uncertain significance rs59952672 GRCh37 Chromosome 4, 57368674: 57368679
16 SRP72 NM_006947.3(SRP72): c.*647_*652dupTATATA duplication Uncertain significance rs59952672 GRCh38 Chromosome 4, 56502508: 56502513
17 SRP72 NM_006947.3(SRP72): c.*732A> G single nucleotide variant Benign rs14211 GRCh37 Chromosome 4, 57368759: 57368759
18 SRP72 NM_006947.3(SRP72): c.*732A> G single nucleotide variant Benign rs14211 GRCh38 Chromosome 4, 56502593: 56502593
19 SRP72 NM_006947.3(SRP72): c.*839T> C single nucleotide variant Uncertain significance rs757066668 GRCh37 Chromosome 4, 57368866: 57368866
20 SRP72 NM_006947.3(SRP72): c.*839T> C single nucleotide variant Uncertain significance rs757066668 GRCh38 Chromosome 4, 56502700: 56502700
21 SRP72 NM_006947.3(SRP72): c.*1603A> G single nucleotide variant Benign rs1142851 GRCh37 Chromosome 4, 57369630: 57369630
22 SRP72 NM_006947.3(SRP72): c.*1603A> G single nucleotide variant Benign rs1142851 GRCh38 Chromosome 4, 56503464: 56503464
23 SRP72 NM_006947.3(SRP72): c.*1764A> G single nucleotide variant Likely benign rs192226722 GRCh37 Chromosome 4, 57369791: 57369791
24 SRP72 NM_006947.3(SRP72): c.*1764A> G single nucleotide variant Likely benign rs192226722 GRCh38 Chromosome 4, 56503625: 56503625
25 SRP72 NM_006947.3(SRP72): c.133G> A (p.Val45Ile) single nucleotide variant Uncertain significance rs201940585 GRCh37 Chromosome 4, 57335842: 57335842
26 SRP72 NM_006947.3(SRP72): c.133G> A (p.Val45Ile) single nucleotide variant Uncertain significance rs201940585 GRCh38 Chromosome 4, 56469676: 56469676
27 SRP72 NM_006947.3(SRP72): c.144G> T (p.Leu48=) single nucleotide variant Likely benign rs112496764 GRCh37 Chromosome 4, 57335853: 57335853
28 SRP72 NM_006947.3(SRP72): c.144G> T (p.Leu48=) single nucleotide variant Likely benign rs112496764 GRCh38 Chromosome 4, 56469687: 56469687
29 SRP72 NM_006947.3(SRP72): c.294G> A (p.Leu98=) single nucleotide variant Uncertain significance rs145137299 GRCh37 Chromosome 4, 57337949: 57337949
30 SRP72 NM_006947.3(SRP72): c.294G> A (p.Leu98=) single nucleotide variant Uncertain significance rs145137299 GRCh38 Chromosome 4, 56471783: 56471783
31 SRP72 NM_006947.3(SRP72): c.1650T> C (p.Asp550=) single nucleotide variant Likely benign rs202073540 GRCh38 Chromosome 4, 56495366: 56495366
32 SRP72 NM_006947.3(SRP72): c.1650T> C (p.Asp550=) single nucleotide variant Likely benign rs202073540 GRCh37 Chromosome 4, 57361532: 57361532
33 SRP72 NM_006947.3(SRP72): c.1704A> G (p.Pro568=) single nucleotide variant Likely benign rs41280351 GRCh38 Chromosome 4, 56500561: 56500561
34 SRP72 NM_006947.3(SRP72): c.1704A> G (p.Pro568=) single nucleotide variant Likely benign rs41280351 GRCh37 Chromosome 4, 57366727: 57366727
35 SRP72 NM_006947.3(SRP72): c.2004A> G (p.Lys668=) single nucleotide variant Likely benign rs148068843 GRCh38 Chromosome 4, 56501849: 56501849
36 SRP72 NM_006947.3(SRP72): c.2004A> G (p.Lys668=) single nucleotide variant Likely benign rs148068843 GRCh37 Chromosome 4, 57368015: 57368015
37 SRP72 NM_006947.3(SRP72): c.*139G> A single nucleotide variant Benign rs28438730 GRCh38 Chromosome 4, 56502000: 56502000
38 SRP72 NM_006947.3(SRP72): c.*139G> A single nucleotide variant Benign rs28438730 GRCh37 Chromosome 4, 57368166: 57368166
39 SRP72 NM_006947.3(SRP72): c.*173T> C single nucleotide variant Benign rs10051 GRCh38 Chromosome 4, 56502034: 56502034
40 SRP72 NM_006947.3(SRP72): c.*173T> C single nucleotide variant Benign rs10051 GRCh37 Chromosome 4, 57368200: 57368200
41 SRP72 NM_006947.3(SRP72): c.*221A> G single nucleotide variant Likely benign rs149250989 GRCh38 Chromosome 4, 56502082: 56502082
42 SRP72 NM_006947.3(SRP72): c.*221A> G single nucleotide variant Likely benign rs149250989 GRCh37 Chromosome 4, 57368248: 57368248
43 SRP72 NM_006947.3(SRP72): c.*780C> T single nucleotide variant Benign rs10518 GRCh37 Chromosome 4, 57368807: 57368807
44 SRP72 NM_006947.3(SRP72): c.*321A> G single nucleotide variant Uncertain significance rs886059499 GRCh38 Chromosome 4, 56502182: 56502182
45 SRP72 NM_006947.3(SRP72): c.*321A> G single nucleotide variant Uncertain significance rs886059499 GRCh37 Chromosome 4, 57368348: 57368348
46 SRP72 NM_006947.3(SRP72): c.*442A> G single nucleotide variant Benign rs7762 GRCh38 Chromosome 4, 56502303: 56502303
47 SRP72 NM_006947.3(SRP72): c.*442A> G single nucleotide variant Benign rs7762 GRCh37 Chromosome 4, 57368469: 57368469
48 SRP72 NM_006947.3(SRP72): c.*606A> T single nucleotide variant Uncertain significance rs868279024 GRCh37 Chromosome 4, 57368633: 57368633
49 SRP72 NM_006947.3(SRP72): c.*606A> T single nucleotide variant Uncertain significance rs868279024 GRCh38 Chromosome 4, 56502467: 56502467
50 SRP72 NM_006947.3(SRP72): c.*635C> T single nucleotide variant Uncertain significance rs200981113 GRCh37 Chromosome 4, 57368662: 57368662

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

Cellular components related to Bone Marrow Failure Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.62 ARL9 SRP72

Sources for Bone Marrow Failure Syndrome 1

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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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