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

BMFS1 MCID: BNM010 MIFTS: 37	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 Drugs 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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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: 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

MedGen ⁴¹ C3553438 C3808553 CN128716

SNOMED-CT via HPO ⁶⁸ 103276001 109995007 128623006 more

UMLS ⁷⁰ C3808553

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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

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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	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:

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Symptoms & Phenotypes for Bone Marrow Failure Syndrome 1

Human phenotypes related to Bone Marrow Failure Syndrome 1:

³¹

#	Description	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)

Sources

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

Fludarabine

Approved

Phase 2, Phase 3

21679-14-1, 75607-67-9

30751

Synonyms:

(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

21679-14-1

2-F-ara-A

2-F-ARAA

2F-Ara-AMP

2-fluoro ARA-A

2-Fluoro Ara-A

2-Fluoro-9-beta-D-arabinofuranosyladenine

2-Fluoroadenine arabinoside 5'-monophosphate

2-Fluoroadenine arabinoside 5'-monophosphoric acid

2-Fluoro-ara AMP

9 beta-D-Arabinofuranosyl-2-fluoroadenine monophosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-b-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-b-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine

9-beta-D-Arabinofuranosyl-2-fluoroadenine

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)

9-Β-arabinofuranosyl-2-fluoroadenine-5'-phosphate

9-Β-arabinofuranosyl-2-fluoroadenine-5'-phosphoric acid

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphoric acid)

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphate

9-Β-D-arabinofuranosyl-2-fluoroadenine 5'-monophosphoric acid

AC1LCW8I

AC1Q51CF

Beneflur

C10H12FN5O4

CCRIS 3382

CHEMBL1568

CID657237

CPD000058874

D07966

EINECS 244-525-5

FAMP

FaraA

F-Ara-A

FaraAMP

F-Ara-AMP

Fludara

Fludara, Fludarabine

Fludarabina

Fludarabina [Spanish]

Fludarabine

Fludarabine (INN)

Fludarabine [INN]

Fludarabine 5'-monophosphate

Fludarabine 5'-monophosphoric acid

Fludarabine monophosphate

Fludarabine monophosphoric acid

Fludarabine phosphate

Fludarabine phosphoric acid

Fludarabinum

Fludarabinum [Latin]

Fludura

Fluoro-ara-AMP

Fluradosa

Fluradosa (TN)

FT-0082766

HSDB 6964

I14-4978

LS-15061

MLS000028687

NSC 118218

NSC 118218H

NSC-118218

S1491_Selleck

SAM002548956

SMR000058874

SQ Fludarabine

UNII-1X9VK9O1SC

UNII-P2K93U8740

ZINC04216238

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Synonyms:

1, {4-Bis[methanesulfonoxy]butane}

1, 4-Dimethanesulfonoxybutane

1, 4-Dimethylsulfonoxybutane

1,4-Bis(methanesulfonoxy)butane

1,4-Bis(methanesulfonyloxy)butane

1,4-Bis(methanesulphonoxy)butane

1,4-Bis[methanesulfonoxy]butane

1,4-Butanedi yl dimethanesulfonate

1,4-Butanediol dimethanesulfonate

1,4-BUTANEDIOL DIMETHANESULFONATE

1,4-Butanediol dimethanesulfonic acid

1,4-Butanediol dimethanesulphonate

1,4-Butanediol dimethanesulphonic acid

1,4-Butanediol dimethylsulfonate

1,4-Butanediol, dimethanesulfonate

1,4-Butanediol, dimethanesulphonate

1,4-Butanediyl dimethanesulfonate

1,4-Di(methylsulfonoxy)butane

1,4-Dimesyloxybutane

1,4-Dimethane sulfonyl oxybutane

1,4-Dimethanesulfonoxybutane

1,4-Dimethanesulfonoxylbutane

1,4-Dimethanesulfonyloxybutane

1,4-Dimethanesulphonoxybutane

1,4-Dimethanesulphonyloxybutane

1,4-Dimethylsulfonoxybutane

1,4-Dimethylsulfonyloxybutane

2041 C. B

2041 C. B.

2041 C.B

2041 C.B.

4-((Methylsulfonyl)oxy)butyl methanesulfonate

4-methylsulfonyloxybutyl methanesulfonate

55-98-1

AC-198

AC1L1DRQ

AC1Q4GRQ

acid, tetramethylene ester

AI3-25012

AKOS003614975

alkylating agent: crosslinks guanine residues

Ambap55-98-1

AN 33501

B1022

B2635_FLUKA

B2635_SIGMA

Bisulfex

Bisulphex

BRN 1791786

BSPBio_001920

Busilvex

busulfan

Busulfan

BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)

Busulfan (JP15/USP/INN)

Busulfan [INN:JAN]

Busulfan glaxosmithkline brand

Busulfan GlaxoSmithKline Brand

Busulfan orphan brand

Busulfan Orphan Brand

Busulfan wellcome

Busulfan Wellcome

Busulfan wellcome brand

Busulfan Wellcome Brand

Busulfano

Busulfano [INN-Spanish]

Busulfanum

Busulfanum [INN-Latin]

Busulfex

Busulphan

Busulphane

Busulphano

Busulphanum

butane-1,4-diyl dimethanesulfonate

Butanedioldimethanesulfonate

Buzulfan

C.B. 2041

C6H14O6S2

CB 2041

CCRIS 418

CHEBI:28901

CHEMBL820

CID2478

Citosulfan

CPD000058613

D002066

D00248

DB01008

DivK1c_000847

EINECS 200-250-2

FT-0083567

G.T. 41

Glaxo wellcome brand OF busulfan

Glaxo Wellcome Brand of Busulfan

GlaxoSmithKline brand OF busulfan

GlaxoSmithKline Brand of Busulfan

Glyzophrol

GT 2041

GT 41

HMS1920I07

HMS2091O09

HMS502K09

HSDB 7605

I09-1371

IDI1_000847

InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3

KBio1_000847

KBio2_000512

KBio2_003080

KBio2_005648

KBio3_001420

KBioGR_000698

KBioSS_000512

Leucosulfan

Leucosulphan

LS-1358

Mablin

Methanesulfonic

Methanesulfonic acid, tetram ethylene ester

Methanesulfonic acid, tetramethylene ester

Mielevcin

Mielosan

Mielucin

Milecitan

Mileran

Misulban

Mitosan

Mitostan

MLS001076666

MolPort-001-783-406

Myeleukon

Myeloleukon

Myelosan

Myelosanum

Mylecytan

Myleran

Myléran

MYLERAN (TN)

Myleran tablets

Myleran Tablets

Myleran, Busulfex, Busulfan

Mylerlan

n-Butane-1,3-di(methylsulfonate)

N-Butane-1,3-di(methylsulfonate)

NCGC00090905-01

NCGC00090905-02

NCGC00090905-03

NCGC00090905-04

NCGC00090905-05

NCGC00090905-06

NCGC00090905-07

NCI60_041640

NCI-C01592

NCIMech_000192

NINDS_000847

NSC 750

NSC750

NSC-750

NSC-750sulphabutin

Orphan brand OF busulfan

Orphan Brand of Busulfan

Prestwick_989

S1692_Selleck

SAM002554887

SMR000058613

SPBio_000253

Spectrum_000092

SPECTRUM1500152

Spectrum2_000067

Spectrum3_000320

Spectrum4_000259

Spectrum5_000928

ST50825921

Sulfabutin

Sulfabutin (VAN)

Sulphabutin

Tetramethylene {bis[methanesulfonate]}

Tetramethylene bis(methanesulfonate)

Tetramethylene bis(methanesulfonic acid)

Tetramethylene bis(methanesulphonate)

Tetramethylene bis(methanesulphonic acid)

Tetramethylene bis[methanesulfonate]

Tetramethylene dimethane sulfonate

Tetramethylene Dimethane Sulfonate

Tetramethylenester kyseliny methansulfonove

Tetramethylenester Kyseliny Methansulfonove

Tetramethylenester kyseliny methansulfonove [Czech]

UNII-G1LN9045DK

Wellcome brand OF busulfan

Wellcome Brand of Busulfan

Wellcome, busulfan

Wellcome, Busulfan

WLN: WS1&O4OSW1

X 149

Alkylating Agents

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Antilymphocyte Serum

Phase 2, Phase 3

Antimetabolites

Phase 2, Phase 3

Immunoglobulins, Intravenous

Early Phase 1

Antibodies

Early Phase 1

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

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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 ²⁹	SRP72

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Anatomical Context for Bone Marrow Failure Syndrome 1

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

⁴⁰

Bone Marrow, Bone, Thymus

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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	Kirwan M...Dokal I	22541560	2012
2	A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure. ⁶¹	Tummala H...Dokal I	32636268	2020
3	A patient with familial bone marrow failure and an inversion of chromosome 8. ⁶¹	Buchbinder DK...Nugent D	22042281	2011
4	Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome. ⁶¹	Breakey VR...Dror Y	19779378	2009

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Genes for Bone Marrow Failure Syndrome 1

Genes related to Bone Marrow Failure Syndrome 1 (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SRP72	Signal Recognition Particle 72	Protein Coding	1669.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22541560
2	DDX41	DEAD-Box Helicase 41	Protein Coding	400	Pathogenic ⁶
3	FOXP3	Forkhead Box P3	Protein Coding	400	Pathogenic ⁶
4	RPS26	Ribosomal Protein S26	Protein Coding	400	Pathogenic ⁶
5	TTR	Transthyretin	Protein Coding	400	Pathogenic ⁶
6	DCC	DCC Netrin 1 Receptor	Protein Coding	25	Likely pathogenic ⁶

Sources

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

Sources

Expression for Bone Marrow Failure Syndrome 1

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

Sources

Pathways for Bone Marrow Failure Syndrome 1

Sources

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

Sources for Bone Marrow Failure Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

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

Interventional clinical trials:

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:

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 (5 elite genes):

Variations for Bone Marrow Failure Syndrome 1

ClinVar genetic disease variations for Bone Marrow Failure Syndrome 1:

UniProtKB/Swiss-Prot 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

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

Sources for Bone Marrow Failure Syndrome 1