BDA
MCID: DMN001
MIFTS: 61

Diamond-Blackfan Anemia (BDA) malady

Summaries for Diamond-Blackfan Anemia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Diamond blackfan anemia is a genetic blood disorder that is usually diagnosed during the first year of life.anemia results from the failure of the bone marrow to produce red blood cells, the cells that carry oxygen throughout the body. individuals with diamond blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. some affected individuals also have short stature.  the cause of diamond blackfan anemia is often unknown. about 45% of people with diamond blackfan anemia inherit this condition from a parent. treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.     last updated: 2/1/2011

MalaCards: Diamond-Blackfan Anemia, also known as anemia diamond blackfan type, is related to deficiency anemia and diamond-blackfan anemia 1. An important gene associated with Diamond-Blackfan Anemia is RPS7 (ribosomal protein S7), and among its related pathways are Hematopoietic cell lineage and Translation initiation complex formation. The compounds pkh 2 and daniplestim have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and heart.

Disease Ontology:8 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficent levels of red blood cells due to bone marrow dysfunction.

Description from OMIM:47 612528, 613309, 612562, 612563, 612561 613308, 610629, 612527, 105650 more

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 47OMIM, 57SNOMED-CT, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

diamond-blackfan anemia 8 19 43 21 10 45 31
anemia diamond blackfan type 43 20 22
congenital pure red cell aplasia 21 45
anemia, diamond-blackfan 8 61
aase syndrome 21 61
bds 43 21
congenital hypoplastic anemia of blackfan and diamond 21
congenital hypoplastic anemia of blackfandiamond 19
chronic constitutional pure red cell anaemia 8
chronic constitutional pure red cell aplasia 8
decreased erythroid precursor production 61
aregenerative anemia chronic congenital 43
anemia congenital erythroid hypoplastic 43
congenital erythroid hypoplastic anemia 21
chronic congenital agenerative anemia 21
pure hereditary red cell aplasia 21
congenital pure red cell anemia 21
hypoplastic congenital anemia 21
anemia hypoplastic congenital 45
inherited erythroblastopenia 21
blackfan - diamond syndrome 8
blackfan-diamond syndrome 21
blackfan diamond syndrome 43
erythrogenesis imperfecta 21
blackfan-diamond disease 21
blackfan diamond anemia 21
aase-smith syndrome ii 21
bd syndrome 43
dba 21
bda 21


External Ids:

Disease Ontology8 DOID:1339
NCIt40 C61236
MeSH35 D029503

Related Diseases for Diamond-Blackfan Anemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Diamond-Blackfan Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.2RPS19, EPO, THPO, KITLG, IL3
2diamond-blackfan anemia 131.2EPO, FLVCR1, RPL7P32, RPS24, RPS10, RPL11
3refractory anemia31.0KITLG, IL3, THPO, EPO
4aplastic anemia30.6RPS19, EPO, KITLG, THPO, IL3
5klippel-feil syndrome30.6RPS26P6, RPS26
6transient erythroblastopenia of childhood30.4KITLG, EPO
7protein-deficiency anemia10.6
8diamond-blackfan anemia 210.6
9protein r deficiency10.6
10cleft palate10.6
11hydrops fetalis10.6
12diamond-blackfan anemia 310.5
13rps19-related diamond-blackfan anemia10.5
14rps17-related diamond-blackfan anemia10.5
15rpl35a-related diamond-blackfan anemia10.5
16rpl11-related diamond-blackfan anemia10.5
17rps7-related diamond-blackfan anemia10.5
18rps26-related diamond-blackfan anemia10.5
19rps10-related diamond-blackfan anemia10.5
20diamond-blackfan anemia 810.5
21diamond-blackfan anemia 1210.5
22diamond-blackfan anemia 510.5
23hematopoietic stem cell transplantation10.5
24hemochromatosis10.4
25protein s deficiency10.4
26protein c deficiency10.4
27b cell deficiency10.4
28thalassemia10.4
29shwachman-diamond syndrome10.4
30rps24-related diamond-blackfan anemia10.4
31rpl5-related diamond-blackfan anemia10.4
32rpl26-related diamond-blackfan anemia10.4
33gata1-related diamond-blackfan anemia10.4
34diamond-blackfan anemia 710.4
35diamond-blackfan anemia 610.4
36diamond-blackfan anemia 910.4
37diamond-blackfan anemia 1010.4
38diamond-blackfan anemia 410.4
39diamond-blackfan anemia 1110.4
40behcet's disease10.3
41binswanger's disease10.3
42dementia - subcortical10.3
43subcortical arteriosclerotic encephalopathy10.3
44johanson-blizzard syndrome10.3
45cardiac tamponade10.3
46treacher collins syndrome10.3
47cartilage-hair hypoplasia10.3
48beta thalassemia10.3
49duchenne muscular dystrophy10.3
50acute leukemia10.3

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia:



Diseases related to diamond-blackfan anemia

Clinical Features for Diamond-Blackfan Anemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612528,613309,612562,612563,612561,613308,610629,612527,105650

Drugs & Therapeutics for Diamond-Blackfan Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Diamond-Blackfan Anemia

Drug clinical trials:

Search ClinicalTrials for Diamond-Blackfan Anemia

Search NIH Clinical Center for Diamond-Blackfan Anemia

Search CenterWatch for Diamond-Blackfan Anemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Diamond-Blackfan Anemia cell therapies at LifeMap Discovery.

Genetic Tests for Diamond-Blackfan Anemia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Diamond-blackfan Anemia20 22 RPS7
2 Diamond-blackfan Anemia Multi-gene Panels20

Anatomical Context for Diamond-Blackfan Anemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

33
Liver, Bone marrow, Heart, T cells, Fetal liver

Animal Models for Diamond-Blackfan Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Diamond-Blackfan Anemia

Sources:
51PubMed
See all sources

Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 254)
idTitleAuthorsYear
1
Diamond blackfan anemia: a tertiary care center experience. (23795277)
2013
2
Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. (23990864)
2013
3
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. (23463023)
2013
4
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. (22362038)
2012
5
Oral and dental manifestations of diamond-blackfan anemia: case reports. (21769279)
2011
6
Diamond Blackfan anemia treatment: past, present, and future. (21435508)
2011
7
Molecular pathogenesis in Diamond-Blackfan anemia. (20882441)
2010
8
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (20378560)
2010
9
Diamond-Blackfan anemia, ribosome and erythropoiesis. (20655265)
2010
10
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. (20116044)
2010
11
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. (19191325)
2009
12
Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19. (19587786)
2009
13
Anesthetic management in a child with Diamond-Blackfan anemia. (18312511)
2008
14
Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. (17962699)
2008
15
Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. (17562599)
2007
16
Diamond-Blackfan anemia: erythropoiesis lost in translation. (17164339)
2007
17
Diamond-Blackfan anemia in remission for 2 years on valproic acid. (16785135)
2006
18
Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia. (16822459)
2006
19
Translational efficiency in patients with Diamond-Blackfan anemia. (17082006)
2006
20
Diamond-Blackfan anemia associated with beta-thalassemia trait. (16493623)
2006
21
Central venous catheter thrombosis as a cause of SVC obstruction and cardiac tamponade in a patient with Diamond-Blackfan anemia and iron overload. (15768384)
2006
22
Diamond-blackfan anemia and growth status: the French registry. (16291361)
2005
23
Successful treatment of Diamond-Blackfan anemia with metoclopramide. (15795909)
2005
24
Postmortem diagnosis of Diamond-Blackfan anemia. (15591911)
2004
25
Molecular diagnosis of Diamond-Blackfan anemia. (14573927)
2004
26
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (12750732)
2003
27
Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. (12142794)
2002
28
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. (11563775)
2001
29
Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group. (11563769)
2001
30
Diamond-blackfan anemia and cyclosporine therapy revisited. (10779036)
2000
31
Diamond-Blackfan anemia and midline defects. (11037867)
2000
32
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of SociActAc d'HAcmatologie et d'Immunologie PAcdiatrique (SHIP), Gesellshaft fA1r PAodiatrische Onkologie und HAomatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). (10541318)
1999
33
Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia. (9531589)
1998
34
Cord blood stem cell transplantation for Diamond-Blackfan anemia. (9052920)
1997
35
Transient erythrophagocytosis in Diamond-Blackfan anemia. (9363662)
1997
36
Diamond-Blackfan anemia and malignancy. A case report and a review of the literature. (8625135)
1995
37
Diamond-blackfan anemia in pregnancy. (8159364)
1994
38
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. (8298126)
1994
39
Malignant tumors in two patients with Diamond-Blackfan anemia treated with corticosteroids and androgens. (7947015)
1994
40
Megadose methylprednisolone for Diamond-Blackfan anemia. (8438909)
1993
41
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. (8217543)
1993
42
Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. (7686505)
1993
43
Successful treatment of Diamond-Blackfan anemia with interleukin 3. (7691318)
1993
44
Cyclosporin A treatment for Diamond-Blackfan anemia. (1546717)
1992
45
Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the steel locus. (1718489)
1991
46
Unresponsiveness to erythropoietin therapy in a case of Blackfan Diamond anemia. (2024647)
1991
47
Gas exchange during exercise in children with thalassemia major and Diamond-Blackfan anemia. (4069833)
1985
48
Effect of cellular and humoral factors on hematopoietic stem cells in a patient with Diamond-Blackfan anemia. (2418617)
1985
49
Congenital hypoplastic anemia (Diamond-Blackfan syndrome). (6211527)
1982
50
Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia. (273451)
1978

Genetic Variations for Diamond-Blackfan Anemia

Expression for genes affiliated with Diamond-Blackfan Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Diamond-Blackfan Anemia.

Pathways for genes affiliated with Diamond-Blackfan Anemia

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3KITLG, IL3, EPO, THPO
2
Hide members
10.3RPS17, RPS26, RPS19, RPS7, RPS10, RPS24
3
Hide members
10.2RPL35A, RPS26, RPS19, RPS7, RPL5, RPL11
4
Hide members
10.2RPS10, RPL35A, RPL11, RPS17, RPL5, RPS7
5
Hide members
10.2RPL11, RPS17, RPS7, RPL5, RPS19, RPL35A
610.2RPS19, RPS26, RPS24, RPL35A, RPS10, RPL11
7
Hide members
10.2RPS19, RPS7, RPS24, RPS10, RPL35A, RPL11

Compounds for genes affiliated with Diamond-Blackfan Anemia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1pkh 24510.7KITLG, IL3
2daniplestim4510.7KITLG, IL3
3mafosfamide4510.7THPO, KITLG, IL3
4rrna4510.7RPS19, RPL5, RPL11
5pixy3214510.7THPO, KITLG, IL3, EPO
6carboxymethylcellulose4510.7EPO, KITLG
7amifostine45 1111.7EPO, IL3, KITLG, THPO
8filgrastim45 1111.7THPO, KITLG, IL3, EPO
9pyronin y4510.7KITLG, THPO
10gm-csf45 2911.7EPO, IL3, KITLG, THPO
11methylcellulose4510.7EPO, IL3, KITLG, THPO
12pegfilgrastim45 1111.7IL3, EPO
13carboplatin45 50 1112.7EPO, IL3, KITLG, THPO
14hydroxyurea45 50 1112.7THPO, KITLG, IL3, EPO
15gp 1304510.7EPO, IL3, KITLG, THPO
16cytarabine45 50 1112.7EPO, IL3, KITLG, THPO
17il 114510.7IL3, EPO
18imatinib45 50 1112.6EPO, IL3, KITLG, THPO
19anagrelide45 1111.6THPO, EPO
204-hydroperoxycyclophosphamide4510.6IL3, KITLG
21neomycin4510.6EPO, IL3, KITLG
225-aza-2deoxycytidine4510.6THPO, KITLG, IL3, EPO
23lenalidomide45 1111.6IL3, EPO
24zidovudine45 1111.5EPO, IL3, KITLG
25ag-12964510.5KITLG, IL3
26butyrate4510.5THPO, KITLG, IL3, EPO
27rapamycin4510.4EPO, IL3, KITLG, THPO
28as 10160 4511.4KITLG, IL3
29benzidine4510.4KITLG, EPO
30ly2940024510.4EPO, IL3, KITLG, THPO
31hydrocortisone45 2 60 1113.2EPO, IL3, KITLG
32rhodamine 12345 5011.1KITLG, IL3

GO Terms for genes affiliated with Diamond-Blackfan Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:01593510.4RPS24, RPS26
2cytosolic small ribosomal subunitGO:02262710.3RPS24, RPS26, RPS19, RPS7, RPS17, RPS10
3ribosomeGO:00584010.3RPS10, RPS17, RPS7, RPS19
4cytosolic large ribosomal subunitGO:02262510.3RPL5, RPL11, RPL35A
5cytosolGO:0058299.9RPS26, RPS19, RPS7, RPL5, RPS17, RPL11

Biological processes related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1ribosomal small subunit biogenesisGO:04227410.6RPS17, RPS24, RPS19, RPS7
2ribosomal large subunit biogenesisGO:04227310.6RPL5, RPL11, RPL35A
3maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:00046210.6RPS24, RPS19
4viral life cycleGO:01905810.5RPS24, RPS10, RPL35A, RPL11, RPS17, RPL5
5translational terminationGO:00641510.5RPS7, RPL5, RPS17, RPL11, RPL35A, RPS10
6translational elongationGO:00641410.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
7positive regulation of DNA replicationGO:04574010.5EPO, IL3, KITLG
8ribosomal small subunit assemblyGO:00002810.5RPS19, RPS17
9SRP-dependent cotranslational protein targeting to membraneGO:00661410.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
10rRNA processingGO:00636410.5RPS7, RPL11, RPS17, RPS24, RPS19, RPL35A
11translational initiationGO:00641310.5RPS26, RPS7, RPS19, RPL5, RPS17, RPL11
12viral transcriptionGO:01908310.5RPL35A, RPL11, RPS17, RPL5, RPS7, RPS19
13nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00018410.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL11
14mRNA metabolic processGO:01607110.5RPL5, RPS17, RPL11, RPL35A, RPS10, RPS7
15translationGO:00641210.5RPS26, RPL11, RPS17, RPL5, RPS7, RPS19
16erythrocyte homeostasisGO:03410110.5RPS24, RPS17
17RNA metabolic processGO:01607010.5RPS26, RPS19, RPS7, RPL5, RPS17, RPL35A
18viral processGO:01603210.5RPS26, RPS10, RPL35A, RPL11, RPS17, RPL5
19cellular protein metabolic processGO:04426710.4RPL35A, RPL11, RPS24, RPS19, RPS17, RPL5
20gene expressionGO:01046710.4RPS26, RPS24, RPS10, RPL35A, RPS17, RPL5
21embryonic hemopoiesisGO:03516210.4IL3, KITLG
22erythrocyte maturationGO:04324910.4FLVCR1, EPO
23positive regulation of Ras protein signal transductionGO:04657910.3KITLG, EPO
24positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.1IL3, EPO

Molecular functions related to Diamond-Blackfan Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of ribosomeGO:00373510.2RPS24, RPL35A, RPL11, RPS17, RPL5, RPS7

Products for genes affiliated with Diamond-Blackfan Anemia

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Sources for Diamond-Blackfan Anemia

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