Bone Marrow Failure Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BMFS1 MCID: BNM010 MIFTS: 27	Bone Marrow Failure Syndrome 1 (BMFS1) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bone Marrow Failure Syndrome 1

MalaCards integrated aliases for Bone Marrow Failure Syndrome 1:

Name: Bone Marrow Failure Syndrome 1 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Bmfs1 ⁵⁸ ⁷⁶

Autosomal Dominant Aplastic Anemia and Myelodysplasia ⁶⁰

Autosomal Dominant Aplasia and Myelodysplasia ⁶⁰

Bone Marrow Failure Syndrome, Type 1 ⁴¹

Bone Marrow Failure, Familial ¹³

Familial Bone Marrow Failure ⁷⁶

Bmff ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

bone marrow failure syndrome 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

Other aplastic anaemias

Constitutional aplastic anaemia

Orphanet: ⁶⁰

Rare haematological diseases

External Ids:

OMIM ⁵⁸ 614675

MeSH ⁴⁵ D000741 D009190

ICD10 via Orphanet ³⁵ D61.0

Orphanet ⁶⁰ ORPHA314399

MedGen ⁴³ C3553438 C3808553 CN128716

SNOMED-CT via HPO ⁷⁰ 103276001 109995007 128623006 more

UMLS ⁷⁴ C3808553

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Summaries for Bone Marrow Failure Syndrome 1

UniProtKB/Swiss-Prot : ⁷⁶ 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

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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
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:

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Symptoms & Phenotypes for Bone Marrow Failure Syndrome 1

Human phenotypes related to Bone Marrow Failure Syndrome 1:

³³

#	Description	HPO Source Accession
1	hearing impairment ³³	HP:0000365
2	bone marrow hypocellularity ³³	HP:0005528
3	aplastic anemia ³³	HP:0001915
4	myelodysplasia ³³	HP:0002863

Symptoms via clinical synopsis from OMIM:

⁵⁸

Hematology:
pancytopenia
aplastic anemia
myelodysplasia

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

Clinical features from OMIM:

614675

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Drugs & Therapeutics for Bone Marrow Failure Syndrome 1

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

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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 ³⁰	SRP72

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Anatomical Context for Bone Marrow Failure Syndrome 1

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

⁴²

Bone, Bone Marrow, Skin

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Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

#	Title	Authors	Year
1	Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. ( 22541560 )	Kirwan M...Dokal I	2012
2	Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. ( 19779378 )	Breakey VR...Dror Y	2009

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Genes for Bone Marrow Failure Syndrome 1

Genes related to Bone Marrow Failure Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SRP72	Signal Recognition Particle 72	Protein Coding	1680.09	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	22541560
2	LOC107986282	Uncharacterized LOC107986282	RNA Gene	8.78	GeneCards inferred via : Variants (show sections)
3	ARL9	ADP Ribosylation Factor Like GTPase 9	Protein Coding	8.57	GeneCards inferred via : Variants (show sections)

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Variations for Bone Marrow Failure Syndrome 1

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

⁷⁶

#	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	GRCh38	Chromosome 4, 56467656: 56467656
8	SRP72	NM_006947.3(SRP72): c.21G> T (p.Gly7=)	single nucleotide variant	Benign	rs12513091	GRCh37	Chromosome 4, 57333822: 57333822
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_006947.4(SRP72): c.647_652dup	duplication	Uncertain significance	rs35852754	GRCh38	Chromosome 4, 56502508: 56502513
16	SRP72	NM_006947.4(SRP72): c.647_652dup	duplication	Uncertain significance	rs35852754	GRCh37	Chromosome 4, 57368674: 57368679
17	SRP72	NM_006947.3(SRP72): c.*732A> G	single nucleotide variant	Benign	rs14211	GRCh38	Chromosome 4, 56502593: 56502593
18	SRP72	NM_006947.3(SRP72): c.*732A> G	single nucleotide variant	Benign	rs14211	GRCh37	Chromosome 4, 57368759: 57368759
19	SRP72	NM_006947.3(SRP72): c.*839T> C	single nucleotide variant	Uncertain significance	rs757066668	GRCh38	Chromosome 4, 56502700: 56502700
20	SRP72	NM_006947.3(SRP72): c.*839T> C	single nucleotide variant	Uncertain significance	rs757066668	GRCh37	Chromosome 4, 57368866: 57368866
21	SRP72	NM_006947.3(SRP72): c.*1603A> G	single nucleotide variant	Benign	rs1142851	GRCh38	Chromosome 4, 56503464: 56503464
22	SRP72	NM_006947.3(SRP72): c.*1603A> G	single nucleotide variant	Benign	rs1142851	GRCh37	Chromosome 4, 57369630: 57369630
23	SRP72	NM_006947.3(SRP72): c.*1764A> G	single nucleotide variant	Likely benign	rs192226722	GRCh38	Chromosome 4, 56503625: 56503625
24	SRP72	NM_006947.3(SRP72): c.*1764A> G	single nucleotide variant	Likely benign	rs192226722	GRCh37	Chromosome 4, 57369791: 57369791
25	SRP72	NM_006947.3(SRP72): c.133G> A (p.Val45Ile)	single nucleotide variant	Uncertain significance	rs201940585	GRCh38	Chromosome 4, 56469676: 56469676
26	SRP72	NM_006947.3(SRP72): c.133G> A (p.Val45Ile)	single nucleotide variant	Uncertain significance	rs201940585	GRCh37	Chromosome 4, 57335842: 57335842
27	SRP72	NM_006947.3(SRP72): c.144G> T (p.Leu48=)	single nucleotide variant	Likely benign	rs112496764	GRCh38	Chromosome 4, 56469687: 56469687
28	SRP72	NM_006947.3(SRP72): c.144G> T (p.Leu48=)	single nucleotide variant	Likely benign	rs112496764	GRCh37	Chromosome 4, 57335853: 57335853
29	SRP72	NM_006947.3(SRP72): c.294G> A (p.Leu98=)	single nucleotide variant	Uncertain significance	rs145137299	GRCh38	Chromosome 4, 56471783: 56471783
30	SRP72	NM_006947.3(SRP72): c.294G> A (p.Leu98=)	single nucleotide variant	Uncertain significance	rs145137299	GRCh37	Chromosome 4, 57337949: 57337949
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.*321A> G	single nucleotide variant	Uncertain significance	rs886059499	GRCh38	Chromosome 4, 56502182: 56502182
44	SRP72	NM_006947.3(SRP72): c.*321A> G	single nucleotide variant	Uncertain significance	rs886059499	GRCh37	Chromosome 4, 57368348: 57368348
45	SRP72	NM_006947.3(SRP72): c.*442A> G	single nucleotide variant	Benign	rs7762	GRCh38	Chromosome 4, 56502303: 56502303
46	SRP72	NM_006947.3(SRP72): c.*442A> G	single nucleotide variant	Benign	rs7762	GRCh37	Chromosome 4, 57368469: 57368469
47	SRP72	NM_006947.3(SRP72): c.*606A> T	single nucleotide variant	Uncertain significance	rs868279024	GRCh38	Chromosome 4, 56502467: 56502467
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.*635C> T	single nucleotide variant	Uncertain significance	rs200981113	GRCh38	Chromosome 4, 56502496: 56502496
50	SRP72	NM_006947.3(SRP72): c.*635C> T	single nucleotide variant	Uncertain significance	rs200981113	GRCh37	Chromosome 4, 57368662: 57368662

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Expression for Bone Marrow Failure Syndrome 1

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

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Pathways for Bone Marrow Failure Syndrome 1

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GO Terms for Bone Marrow Failure Syndrome 1

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Sources for Bone Marrow Failure Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

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²⁹ GO

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³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

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³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴³ MedGen

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

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⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁹ SNOMED-CT

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bone Marrow Failure Syndrome 1 (BMFS1)

Aliases & Classifications for Bone Marrow Failure Syndrome 1

MalaCards integrated aliases for Bone Marrow Failure Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bone Marrow Failure Syndrome 1

Related Diseases for Bone Marrow Failure Syndrome 1

Diseases in the Inherited Bone Marrow Failure Syndromes family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Bone Marrow Failure Syndrome 1

Genetic Tests for Bone Marrow Failure Syndrome 1

Genetic tests related to Bone Marrow Failure Syndrome 1:

Anatomical Context for Bone Marrow Failure Syndrome 1

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

Publications for Bone Marrow Failure Syndrome 1

Articles related to Bone Marrow Failure Syndrome 1:

Genes for Bone Marrow Failure Syndrome 1

Genes related to Bone Marrow Failure Syndrome 1 (1 elite genes):

Variations for Bone Marrow Failure Syndrome 1

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

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

Expression 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