BMFS
MCID: INH011
MIFTS: 36

Inherited Bone Marrow Failure Syndromes (BMFS) malady

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

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MalaCards: Inherited Bone Marrow Failure Syndromes, also known as BMFS, is related to dyskeratosis congenita and hepatocellular carcinoma. 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 and bone, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Aliases & Classifications for Inherited Bone Marrow Failure Syndromes

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43NIH Rare Diseases
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Classifications:



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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Diseases in the Bone Marrow Failure Syndrome 2 family:

inherited bone marrow failure syndromes Bone Marrow Failure, Familial
Bone Marrow Failure Syndrome 1

Diseases related to Inherited Bone Marrow Failure Syndromes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita30.5TINF2, TERC, TERT
2hepatocellular carcinoma29.9TERT, TERC, ELANE
3shwachman-diamond syndrome10.2
4dyskeratosis congenita, autosomal dominant 310.2
5idiopathic pulmonary fibrosis10.0TERT
6exocrine pancreatic insufficiency10.0SBDS, ELANE
7neutropenia10.0SBDS, ELANE
8adult respiratory distress syndrome10.0ELANE, HBG2
9newborn respiratory distress syndrome10.0HBG2, ELANE
10primary pulmonary hypertension10.0ELANE, HBG2
11pulmonary fibrosis, familial10.0TERC, TERT
12dyskeratosis congenita autosomal dominant10.0TERT, TERC
13gastritis10.0TERC, TERT
14septic shock10.0ELANE, HBG2
15cervical intraepithelial neoplasia10.0TERC, TERT
16breast cancer10.0
17chronic lymphocytic leukemia10.0
18laryngeal squamous cell carcinoma10.0
19laryngitis10.0
20leukemia10.0
21melanoma10.0
22myeloma10.0
23transitional cell carcinoma10.0
24hypoxia10.0
25bone marrow failure syndrome 210.0
26teratoma10.0TERC, TERT
27oral cancer10.0TERC, TERT
28cork-handlers' disease10.0ELANE, HBG2
29bladder carcinoma10.0TERC, TERT
30lung benign neoplasm10.0TERC, TERT
31aplastic anemia10.0TERT, TERC, SBDS
32cervical cancer10.0TERC, TERT
33stomach cancer10.0TINF2, TERC, TERT
34pulmonary fibrosis9.9ELANE, TERC, TERT
35endometrial carcinoma9.9TERC, TERT

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

33
Bone marrow, Bone

Animal Models for Inherited Bone Marrow Failure Syndromes or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Inherited Bone Marrow Failure Syndromes:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6ELANE, TERC, TERT
2MP:00053798.3TERT, TERC, TINF2, SBDS
3MP:00028738.0ELANE, TINF2, TERT, SBDS
4MP:00053977.8TERT, TERC, TINF2, ELANE, SBDS
5MP:00053877.7SBDS, TERC, TINF2, ELANE, TERT
6MP:00107687.3SBDS, TERT, TERC, TINF2, ELANE

Publications for Inherited Bone Marrow Failure Syndromes

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52PubMed
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Articles related to Inherited Bone Marrow Failure Syndromes:

(show all 24)
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
Dyskeratosis congenita: an inherited bone marrow failure syndrome. (8616066)
1996
24
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN
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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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45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Inherited Bone Marrow Failure Syndromes according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1sodium bicarbonate45 1110.6ELANE, HBG2
2nitroglycerin45 1110.6ELANE, HBG2
3alpha tocopherol459.5HBG2, ELANE
4sodium dodecylsulfate459.5HBG2, ELANE
5sodium nitroprusside459.5ELANE, HBG2
6lipofectamine459.5TERT, TERC
7zidovudine45 51 1111.4TERC, TERT
8adriamycin459.3TERT, TERC
9egcg459.1TERT, ELANE
10carbon459.0HBG2, ELANE
11tin(2+)459.0TERT, TERC, TINF2
12adpribose459.0TERC, TINF2, TERT
13h2o2458.7HBG2, TERT, ELANE
14retinoic acid45 249.6TERT, TERC, ELANE
15oxygen45 249.5HBG2, TERT, ELANE
16estrogen458.5TERT, TERC, ELANE

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:0007819.1TINF2, 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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Sources for Inherited Bone Marrow Failure Syndromes

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet