BMFS
MCID: INH011
MIFTS: 36

Inherited Bone Marrow Failure Syndromes (BMFS) malady

Rare diseases, Bone diseases, Immune diseases categories
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Summaries for Inherited Bone Marrow Failure Syndromes

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MalaCards based summary: Inherited Bone Marrow Failure Syndromes, also known as BMFS, is related to dyskeratosis congenita and paroxysmal nocturnal hemoglobinuria. An important gene associated with Inherited Bone Marrow Failure Syndromes is SBDS (Shwachman-Bodian-Diamond syndrome), and among its related pathways are Regulation of Telomerase and Telomere Extension By Telomerase. The compounds sodium bicarbonate and nitroglycerin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and neutrophil, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

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Inherited Bone Marrow Failure Syndromes, Aliases & Descriptions:

Name: Inherited Bone Marrow Failure Syndromes 42
 
Bmfs 42


Classifications:

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


Related Diseases for Inherited Bone Marrow Failure Syndromes

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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

Symptoms for Inherited Bone Marrow Failure Syndromes

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Drugs & Therapeutics for Inherited Bone Marrow Failure Syndromes

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Drug clinical trials:

Search ClinicalTrials for Inherited Bone Marrow Failure Syndromes

Search NIH Clinical Center 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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MalaCards organs/tissues related to Inherited Bone Marrow Failure Syndromes:

32
Bone marrow, Bone, Neutrophil

Animal Models for Inherited Bone Marrow Failure Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Inherited Bone Marrow Failure Syndromes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6ELANE, TERC, TERT
2MP:00053798.3TERT, TERC, TINF2, SBDS
3MP:00028738.0SBDS, ELANE, TINF2, TERT
4MP:00053977.8SBDS, ELANE, TINF2, TERC, TERT
5MP:00053877.7TERT, TERC, TINF2, ELANE, SBDS
6MP:00107687.3TERT, TERC, TINF2, ELANE, SBDS

Publications for Inherited Bone Marrow Failure Syndromes

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Articles related to Inherited Bone Marrow Failure Syndromes:

(show all 31)
idTitleAuthorsYear
1
Comparison of chromosome breakage in non-mosaic and mosaic patients with fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes. (25227706)
2014
2
Presence of paroxysmal nocturnal hemoglobinuria clones does not exclude inherited bone marrow failure syndromes. (24750478)
2014
3
Telomere length in inherited bone marrow failure syndromes. (25304614)
2014
4
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. (24612308)
2014
5
Current insights into inherited bone marrow failure syndromes. (25210520)
2014
6
Reduced Serum Levels of Anti-MA1llerian Hormone in Females with Inherited Bone Marrow Failure Syndromes. (25405500)
2014
7
Inherited bone marrow failure syndromes in adolescents and young adults. (24888387)
2014
8
Inherited bone marrow failure syndromes in 2012. (23271412)
2013
9
Genomic characterization of the inherited bone marrow failure syndromes. (24246701)
2013
10
Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. (24295807)
2013
11
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes. (23713742)
2013
12
The inherited bone marrow failure syndromes. (24237972)
2013
13
Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. (23889587)
2013
14
Recent insights into inherited bone marrow failure syndromes. (22227778)
2012
15
Neutrophil functions in patients with inherited bone marrow failure syndromes. (21671367)
2011
16
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. (21659346)
2011
17
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. (20569259)
2011
18
Bone marrow transplantation for inherited bone marrow failure syndromes. (20307716)
2010
19
Pathophysiology and management of inherited bone marrow failure syndromes. (20417588)
2010
20
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. (21113082)
2010
21
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. (20507306)
2010
22
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. (20022637)
2010
23
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. (20435624)
2010
24
Inherited bone marrow failure syndromes. (20675743)
2010
25
Bone marrow cell cycle markers in inherited bone marrow failure syndromes. (18606449)
2008
26
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes. (18595958)
2008
27
Current diagnosis of inherited bone marrow failure syndromes. (17454774)
2007
28
Diagnosis, genetics, and management of inherited bone marrow failure syndromes. (18024606)
2007
29
Inherited bone marrow failure syndromes: molecular features. (17124042)
2006
30
Dyskeratosis congenita: an inherited bone marrow failure syndrome. (8616066)
1996
31
Cytokine treatment of inherited bone marrow failure syndromes. (8461458)
1993

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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Expression patterns in normal tissues for genes affiliated with Inherited Bone Marrow Failure Syndromes

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Pathways for genes affiliated with Inherited Bone Marrow Failure Syndromes

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TINF2, TERT
2
Show member pathways
9.1TINF2, TERT

Compounds for genes affiliated with Inherited Bone Marrow Failure Syndromes

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1sodium bicarbonate44 1110.6ELANE, HBG2
2nitroglycerin44 1110.6HBG2, ELANE
3alpha tocopherol449.5ELANE, HBG2
4sodium dodecylsulfate449.5HBG2, ELANE
5sodium nitroprusside449.5ELANE, HBG2
6lipofectamine449.5TERC, TERT
7zidovudine44 50 1111.4TERC, TERT
8adriamycin449.3TERC, TERT
9egcg449.1ELANE, TERT
10carbon449.0ELANE, HBG2
11tin(2+)449.0TINF2, TERC, TERT
12adpribose449.0TERT, TERC, TINF2
13h2o2448.7ELANE, HBG2, TERT
14retinoic acid44 249.6ELANE, TERC, TERT
15oxygen44 249.5TERT, HBG2, ELANE
16estrogen448.5ELANE, TERC, TERT

GO Terms for genes affiliated with Inherited Bone Marrow Failure Syndromes

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Cellular components related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:0007819.1TINF2, TERT
2nuclear telomere cap complexGO:0007838.8TINF2, TERT

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

idNameGO IDScoreTop Affiliating Genes
1telomere maintenanceGO:0007239.1TINF2, TERT

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

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:0421629.1TINF2, TERT

Products for genes affiliated with Inherited Bone Marrow Failure Syndromes

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet