BMFS
MCID: INH011
MIFTS: 24

Inherited Bone Marrow Failure Syndromes (BMFS) malady

Bone diseases, Immune diseases categories

Summaries for Inherited Bone Marrow Failure Syndromes

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32MalaCards
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MalaCards: Inherited Bone Marrow Failure Syndromes, also known as BMFS, is related to dyskeratosis congenita and leukemia. 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 bone, and related mouse phenotypes are hematopoietic system and mortality/aging.

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

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42NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

inherited bone marrow failure syndromes 42
bmfs 42


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

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Drugs & Therapeutics for Inherited Bone Marrow Failure Syndromes

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Inherited Bone Marrow Failure Syndromes

Drug clinical trials:

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Search NIH Clinical Center for Inherited Bone Marrow Failure Syndromes

Search CenterWatch for Inherited Bone Marrow Failure Syndromes

Genetic Tests for Inherited Bone Marrow Failure Syndromes

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Anatomical Context for Inherited Bone Marrow Failure Syndromes

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32MalaCards
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MalaCards organs/tissues related to Inherited Bone Marrow Failure Syndromes:

32
Bone marrow, Bone

Animal Models for Inherited Bone Marrow Failure Syndromes or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Inherited Bone Marrow Failure Syndromes:

36
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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Genetic Variations for Inherited Bone Marrow Failure Syndromes

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Expression for genes affiliated with Inherited Bone Marrow Failure Syndromes

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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

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53Reactome, 37NCBI BioSystems Database, 51QIAGEN
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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
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9.2TERT, TINF2
2
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9.2TERT, TINF2
39.2TERT, TINF2
49.2TERT, TINF2

Compounds for genes affiliated with Inherited Bone Marrow Failure Syndromes

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44Novoseek, 11DrugBank
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Compounds related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adriamycin449.0TERC, TERT
2lipofectamine448.9TERT, TERC
3zidovudine44 119.7TERC, TERT
4tin(2+)448.6TERC, TERT, TINF2
5adpribose448.6TERC, TERT, TINF2

GO Terms for genes affiliated with Inherited Bone Marrow Failure Syndromes

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet