BDA
MCID: DMN001
MIFTS: 61

Diamond-Blackfan Anemia (BDA) malady

Summaries for Diamond-Blackfan Anemia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 bone marrow, bone 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:46 612528, 613309, 612562, 612563, 612561 613308, 610629, 612527, 105650 more

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

About this section
Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 20GeneTests, 22GTR, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH
See all sources

Aliases & Descriptions:

diamond-blackfan anemia 8 19 42 21 10 44 30
anemia diamond blackfan type 42 20 22
congenital pure red cell aplasia 21 44
anemia, diamond-blackfan 8 60
aase syndrome 21 60
bds 42 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 60
aregenerative anemia chronic congenital 42
anemia congenital erythroid hypoplastic 42
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 44
inherited erythroblastopenia 21
blackfan - diamond syndrome 8
blackfan-diamond syndrome 21
blackfan diamond syndrome 42
erythrogenesis imperfecta 21
blackfan-diamond disease 21
blackfan diamond anemia 21
aase-smith syndrome ii 21
bd syndrome 42
dba 21
bda 21


External Ids:

Disease Ontology8 DOID:1339
NCIt39 C61236
MeSH34 D029503

Related Diseases for Diamond-Blackfan Anemia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Diamond-Blackfan Anemia 1 family:

diamond-blackfan anemia Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Rps19-Related Diamond-Blackfan Anemia
Rps24-Related Diamond-Blackfan Anemia Rps17-Related Diamond-Blackfan Anemia
Rpl35a-Related Diamond-Blackfan Anemia Rpl5-Related Diamond-Blackfan Anemia
Rpl11-Related Diamond-Blackfan Anemia Rps7-Related Diamond-Blackfan Anemia
Rps26-Related Diamond-Blackfan Anemia Rps10-Related Diamond-Blackfan Anemia
Rpl26-Related Diamond-Blackfan Anemia Gata1-Related Diamond-Blackfan Anemia
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 8 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 11

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.3THPO, KITLG, IL3, EPO, RPS19
2diamond-blackfan anemia 131.0RPS19, RPS7, RPL5, THPO, KITLG, IL3
3aplastic anemia30.6RPS19, EPO, IL3, KITLG, THPO
4klippel-feil syndrome30.6RPS26P6, RPS26
5transient erythroblastopenia of childhood30.4EPO, KITLG
6fanconi's anemia30.3THPO, KITLG, IL3
7congenital hypoplastic anemia10.7
8diamond-blackfan anemia 310.6
9cleft palate10.6
10diamond-blackfan anemia 710.6
11diamond-blackfan anemia 610.6
12diamond-blackfan anemia 810.6
13diamond-blackfan anemia 510.6
14diamond-blackfan anemia 910.6
15diamond-blackfan anemia 410.6
16diamond-blackfan anemia 1110.6
17sarcoma10.5
18diamond-blackfan anemia 210.5
19rps19-related diamond-blackfan anemia10.5
20rps17-related diamond-blackfan anemia10.5
21rpl35a-related diamond-blackfan anemia10.5
22rpl11-related diamond-blackfan anemia10.5
23rps7-related diamond-blackfan anemia10.5
24rps26-related diamond-blackfan anemia10.5
25rps10-related diamond-blackfan anemia10.5
26diamond-blackfan anemia 1210.5
27hemochromatosis10.4
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 1010.4
35johanson-blizzard syndrome10.3
36cardiac tamponade10.3
37treacher collins syndrome10.3
38cartilage-hair hypoplasia10.3
39beta thalassemia10.3
40duchenne muscular dystrophy10.3
41acute leukemia10.3
42chromosomal disease10.3
43dysostosis10.3
44exotropia10.3
45hodgkin's lymphoma10.3
46leukemia10.3
47muscular dystrophy10.3
48neonatal anemia10.3
49pneumonia10.3
50pulmonary embolism10.3

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



Diseases related to diamond-blackfan anemia

Clinical Features for Diamond-Blackfan Anemia

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Diamond-Blackfan Anemia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

32
Bone marrow, Bone, Heart, T cells

Animal Models for Diamond-Blackfan Anemia or affiliated genes

About this section

Publications for Diamond-Blackfan Anemia

About this section
Sources:
50PubMed
See all sources

Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. (23812780)
2013
2
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. (22965552)
2013
3
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. (24219546)
2013
4
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. (22431104)
2012
5
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. (21930148)
2012
6
Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. (22058113)
2012
7
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. (22262766)
2012
8
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. (21639928)
2011
9
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. (21989989)
2011
10
Diamond Blackfan anemia and ribosome biogenesis: introduction. (21435502)
2011
11
Modeling Diamond Blackfan anemia in the zebrafish. (21435504)
2011
12
5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability. (21412415)
2011
13
Animal models of Diamond Blackfan anemia. (21435507)
2011
14
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
15
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
16
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. (19713223)
2010
17
Disorders of sex development and Diamond-Blackfan anemia: is there an association? (20358230)
2010
18
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. (19327583)
2009
19
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. (18653748)
2008
20
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (17647292)
2007
21
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. (17376718)
2007
22
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (17517689)
2007
23
Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis? (17586729)
2007
24
Diamond Blackfan anemia: A paradigm for a ribosome-based disease. (16239073)
2006
25
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. (17186470)
2006
26
Successful transplantation of CD34+ selected peripheral blood stem cells from an unrelated donor in an adult patient with Diamond-Blackfan anemia and secondary hemochromatosis. (15516941)
2005
27
Use of rituximab to treat refractory Diamond-Blackfan anemia. (15813920)
2005
28
Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia. (15849759)
2005
29
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. (15523650)
2004
30
Nomimmune hydrops fetalis due to Diamond-Blackfan anemia. (15004307)
2004
31
Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. (12142794)
2002
32
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. (11112378)
2000
33
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation. (10450869)
1999
34
High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of SociActAc d'Immunologie PAcdiatrique (SHIP). (9834249)
1998
35
Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. (9012937)
1997
36
Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops. (9166327)
1997
37
Diamond-Blackfan anemia. (9443046)
1997
38
X-ray-sensitivity of lymphocytes of aplastic- and Diamond-Blackfan-anemia patients as detected by conventional cytogenetic and chromosome painting techniques. (9042404)
1997
39
Bone marrow transplantation for Diamond-Blackfan anemia. (7742755)
1995
40
Red cell aplasia resembling Diamond-Blackfan anemia in seven children in a family. (8037347)
1994
41
Sustained response after recombinant interleukin-3 in diamond blackfan anemia. (8286756)
1994
42
Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. (8167334)
1994
43
Cyclosporin A for Diamond-Blackfan anemia: a new case. (8493997)
1993
44
The SCF and c-kit genes in Diamond-Blackfan anemia. (1373335)
1992
45
Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia. (1423230)
1992
46
Diamond-blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit. (1718487)
1991
47
Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. (3955239)
1986
48
Diamond-Blackfan anemia. Neonatal presentation as Rh incompatibility, hemolysis, and active erythropoiesis. (4083394)
1985
49
Establishment of erythropoiesis following bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (786411)
1976
50
Excretion of urinary tryptophan metabolites by patients with congenital hypoplastic anemia (Diamond-Blackfan syndrome). (5414410)
1970

Genetic Variations for Diamond-Blackfan Anemia

About this section

Expression for genes affiliated with Diamond-Blackfan Anemia

About this section
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

About this section
Sources:
29KEGG, 53Reactome, 37NCBI 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

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1pkh 24410.7KITLG, IL3
2daniplestim4410.7KITLG, IL3
3mafosfamide4410.7THPO, KITLG, IL3
4rrna4410.7RPS19, RPL5, RPL11
5pixy3214410.7THPO, KITLG, IL3, EPO
6carboxymethylcellulose4410.7EPO, KITLG
7amifostine44 1111.7EPO, IL3, KITLG, THPO
8filgrastim44 1111.7THPO, KITLG, IL3, EPO
9pyronin y4410.7KITLG, THPO
10gm-csf44 2811.7EPO, IL3, KITLG, THPO
11methylcellulose4410.7EPO, IL3, KITLG, THPO
12pegfilgrastim44 1111.7IL3, EPO
13carboplatin44 49 1112.7EPO, IL3, KITLG, THPO
14hydroxyurea44 49 1112.7THPO, KITLG, IL3, EPO
15gp 1304410.7EPO, IL3, KITLG, THPO
16cytarabine44 49 1112.7EPO, IL3, KITLG, THPO
17il 114410.7IL3, EPO
18imatinib44 49 1112.6EPO, IL3, KITLG, THPO
19anagrelide44 1111.6THPO, EPO
204-hydroperoxycyclophosphamide4410.6IL3, KITLG
21neomycin4410.6EPO, IL3, KITLG
225-aza-2deoxycytidine4410.6THPO, KITLG, IL3, EPO
23lenalidomide44 1111.6IL3, EPO
24zidovudine44 1111.5EPO, IL3, KITLG
25ag-12964410.5KITLG, IL3
26butyrate4410.5THPO, KITLG, IL3, EPO
27rapamycin4410.4EPO, IL3, KITLG, THPO
28as 10159 4411.4KITLG, IL3
29benzidine4410.4KITLG, EPO
30ly2940024410.4EPO, IL3, KITLG, THPO
31hydrocortisone44 2 59 1113.2EPO, IL3, KITLG
32rhodamine 12344 4911.1KITLG, IL3

GO Terms for genes affiliated with Diamond-Blackfan Anemia

About this section
Sources:
16Gene Ontology
See all sources

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

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

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diamond-Blackfan Anemia

About this section
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