BMFS
MCID: INH011
MIFTS: 25

Inherited Bone Marrow Failure Syndromes (BMFS) malady

Bone, Immune categories

Summaries for Inherited Bone Marrow Failure Syndromes

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33MalaCards
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MalaCards: Inherited Bone Marrow Failure Syndromes, also known as BMFS, is related to dyskeratosis congenita and n syndrome. An important gene associated with Inherited Bone Marrow Failure Syndromes is TINF2 (TERF1 (TRF1)-interacting nuclear factor 2), and among its related pathways are Meiotic Synapsis and Packaging Of Telomere Ends. The compounds adriamycin and lipofectamine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, and related mouse phenotypes are hematopoietic system and mortality/aging.

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone, Immune


Aliases & Descriptions:

inherited bone marrow failure syndromes 43
bmfs 43


Related Diseases for Inherited Bone Marrow Failure Syndromes

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Inherited Bone Marrow Failure Syndromes:



Diseases related to inherited bone marrow failure syndromes

Clinical Features for Inherited Bone Marrow Failure Syndromes

Drugs & Therapeutics for Inherited Bone Marrow Failure Syndromes

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Inherited Bone Marrow Failure Syndromes

Genetic Tests for Inherited Bone Marrow Failure Syndromes

Anatomical Context for Inherited Bone Marrow Failure Syndromes

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33MalaCards
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MalaCards organs/tissues related to Inherited Bone Marrow Failure Syndromes:

33
Bone marrow

Animal Models for Inherited Bone Marrow Failure Syndromes or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Inherited Bone Marrow Failure Syndromes:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.0ELANE, TERC, TERT, SBDS
2MP:00107687.2ELANE, TERC, TERT, SBDS, TINF2

Publications for Inherited Bone Marrow Failure Syndromes

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51PubMed
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Articles related to Inherited Bone Marrow Failure Syndromes:

(show all 23)
idTitleAuthorsYear
1
Inherited bone marrow failure syndromes in 2012. (23271412)
2013
2
Genomic characterization of the inherited bone marrow failure syndromes. (24246701)
2013
3
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. (24295807)
2013
4
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. (23713742)
2013
5
The inherited bone marrow failure syndromes. (24237972)
2013
6
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. (23889587)
2013
7
Recent insights into inherited bone marrow failure syndromes. (22227778)
2012
8
Neutrophil functions in patients with inherited bone marrow failure syndromes. (21671367)
2011
9
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. (21659346)
2011
10
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. (20569259)
2011
11
Bone marrow transplantation for inherited bone marrow failure syndromes. (20307716)
2010
12
Pathophysiology and management of inherited bone marrow failure syndromes. (20417588)
2010
13
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. (21113082)
2010
14
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. (20507306)
2010
15
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. (20022637)
2010
16
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. (20435624)
2010
17
Inherited bone marrow failure syndromes. (20675743)
2010
18
Bone marrow cell cycle markers in inherited bone marrow failure syndromes. (18606449)
2008
19
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. (18595958)
2008
20
Current diagnosis of inherited bone marrow failure syndromes. (17454774)
2007
21
Diagnosis, genetics, and management of inherited bone marrow failure syndromes. (18024606)
2007
22
Inherited bone marrow failure syndromes: molecular features. (17124042)
2006
23
Cytokine treatment of inherited bone marrow failure syndromes. (8461458)
1993

Genetic Variations for Inherited Bone Marrow Failure Syndromes

Expression for genes affiliated with Inherited Bone Marrow Failure Syndromes

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Inherited Bone Marrow Failure Syndromes

Search GEO for disease gene expression data for Inherited Bone Marrow Failure Syndromes.

Pathways for genes affiliated with Inherited Bone Marrow Failure Syndromes

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.2TERT, TINF2
2
Hide members
9.2TERT, TINF2
39.2TERT, TINF2
49.2TERT, TINF2

Compounds for genes affiliated with Inherited Bone Marrow Failure Syndromes

Sources:
45Novoseek, 11DrugBank
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Compounds related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adriamycin459.0TERC, TERT
2lipofectamine458.9TERT, TERC
3zidovudine45 119.7TERC, TERT
4tin(2+)458.6TINF2, TERT, TERC
5adpribose458.6TERC, TERT, TINF2

GO Terms for genes affiliated with Inherited Bone Marrow Failure Syndromes

Sources:
16Gene Ontology
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Cellular components related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:0007819.2TERT, TINF2
2nuclear telomere cap complexGO:0007838.9TERT, TINF2

Biological processes related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere maintenanceGO:0007239.2TERT, TINF2

Molecular functions related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:0421629.2TERT, TINF2

Products for genes affiliated with Inherited Bone Marrow Failure Syndromes

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Sources for Inherited Bone Marrow Failure Syndromes

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet