BDA
MCID: DMN001
MIFTS: 62

Diamond-Blackfan Anemia (BDA) malady

Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
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Summaries for Diamond-Blackfan Anemia

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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 based summary: Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to aplastic anemia and diamond-blackfan anemia 1. An important gene associated with Diamond-Blackfan Anemia is DPM1 (dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit), and among its related pathways are p53 Pathway and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. The compounds puromycin and rrna 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.

Descriptions from OMIM:46 613309, 613308, 105650, 612563, 612561 610629, 612528, 612562, 612527 more

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

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Diamond-Blackfan Anemia, Aliases & Descriptions:

Name: Diamond-Blackfan Anemia 30 8 19 42 21 10 44
Congenital Pure Red Cell Aplasia 21 44 62
Anemia Diamond Blackfan Type 42 20 22
Erythrogenesis Imperfecta 42 21 62
Chronic Constitutional Pure Red Cell Aplasia 8 62
Chronic Constitutional Pure Red Cell Anaemia 8 62
Congenital Erythroid Hypoplastic Anemia 21 62
Chronic Congenital Agenerative Anemia 21 62
Pure Hereditary Red Cell Aplasia 21 62
Congenital Pure Red Cell Anemia 21 62
Hypoplastic Congenital Anemia 21 62
Blackfan-Diamond Syndrome 21 62
Anemia, Diamond-Blackfan 8 62
Blackfan-Diamond Disease 21 62
Aase-Smith Syndrome Ii 21 62
Aase Syndrome 21 62
 
Dba 42 21
Bds 42 21
Congenital Hypoplastic Anemia of Blackfan and Diamond 21
Congenital Hypoplastic Anemia of Blackfandiamond 19
Decreased Erythroid Precursor Production 62
Aregenerative Anemia Chronic Congenital 42
Anemia Congenital Erythroid Hypoplastic 42
Red Cell Aplasia, Pure Hereditary 42
Congenital Hypoplastic Anaemia 62
Congenital Hypoplastic Anemia 42
Anemia Hypoplastic Congenital 44
Inherited Erythroblastopenia 21
Blackfan - Diamond Syndrome 8
Blackfan Diamond Syndrome 42
Blackfan Diamond Anemia 21
Bda 21


Classifications:



External Ids:

Disease Ontology8 DOID:1339
NCIt39 C61236
MeSH34 D029503

Related Diseases for Diamond-Blackfan Anemia

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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 13
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 94)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia30.6RPS19, GATA1
2diamond-blackfan anemia 129.9RPS7, RPL5, RPL26, RPS19, RPS17, RPS10
3diamond-blackfan anemia 310.7
4diamond-blackfan anemia 710.7
5diamond-blackfan anemia 610.7
6diamond-blackfan anemia 810.7
7diamond-blackfan anemia 510.7
8diamond-blackfan anemia 910.7
9diamond-blackfan anemia 410.7
10diamond-blackfan anemia 1110.7
11cleft palate10.6
12hydrops fetalis10.6
13hematopoietic stem cell transplantation10.6
14sarcoma10.6
155q- syndrome10.6
16diamond-blackfan anemia 210.6
17diamond-blackfan anemia 1210.6
18diamond-blackfan anemia 1010.6
19shwachman-diamond syndrome10.5
20thalassemia10.5
21hemochromatosis10.5
22klippel-feil syndrome10.5
23rps19-related diamond-blackfan anemia10.5
24rps24-related diamond-blackfan anemia10.5
25rps17-related diamond-blackfan anemia10.5
26rpl35a-related diamond-blackfan anemia10.5
27rpl5-related diamond-blackfan anemia10.5
28rpl11-related diamond-blackfan anemia10.5
29rps7-related diamond-blackfan anemia10.5
30rps26-related diamond-blackfan anemia10.5
31rps10-related diamond-blackfan anemia10.5
32rpl26-related diamond-blackfan anemia10.5
33gata1-related diamond-blackfan anemia10.5
34diamond-blackfan anemia 1310.5
35duchenne muscular dystrophy10.3
36hodgkin's lymphoma10.3
37leukemia10.3
38pearson syndrome10.3
39treacher collins syndrome10.3
40cartilage-hair hypoplasia10.3
41johanson-blizzard syndrome10.3
42cardiac tamponade10.3
43beta thalassemia10.3
44congenital hypoplastic anemia10.3
45dysostosis10.3
46exotropia10.3
47muscular dystrophy10.3
48pneumonia10.3
49pulmonary embolism10.3
50microtia10.3

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



Diseases related to diamond-blackfan anemia

Symptoms for Diamond-Blackfan Anemia

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Clinical features from OMIM:

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

Drugs & Therapeutics for Diamond-Blackfan Anemia

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Drug clinical trials:

Search ClinicalTrials for Diamond-Blackfan Anemia

Search NIH Clinical Center 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

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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

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MalaCards organs/tissues related to Diamond-Blackfan Anemia:

32
Bone marrow, Bone, Heart, T cells, Pancreas

Animal Models for Diamond-Blackfan Anemia or affiliated genes

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Publications for Diamond-Blackfan Anemia

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Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Nucleolar stress in Diamond Blackfan anemia pathophysiology. (24412987)
2014
2
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. (25042156)
2014
3
Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. (25189322)
2014
4
Gene therapy cures the anemia and lethal bone marrow failure in mouse model for RPS19-deficient Diamond-Blackfan anemia. (25216681)
2014
5
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. (23812780)
2013
6
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. (22965552)
2013
7
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. (24219546)
2013
8
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. (23349008)
2013
9
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. (23744582)
2013
10
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
11
Hemin augments growth and hemoglobinization of erythroid precursors from patients with diamond-blackfan anemia. (22655180)
2012
12
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. (22381658)
2012
13
Clinical utility gene card for: Diamond Blackfan anemia. (21248735)
2011
14
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. (21639928)
2011
15
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. (21435509)
2011
16
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
17
Molecular pathogenesis in Diamond-Blackfan anemia. (20882441)
2010
18
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
19
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (20378560)
2010
20
Anesthetic management in a child with Diamond-Blackfan anemia. (18312511)
2008
21
Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. (18815190)
2008
22
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (18230666)
2008
23
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (16990592)
2007
24
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (17647292)
2007
25
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
26
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. (16531079)
2006
27
Diamond-Blackfan anemia: clinical features and treatment results in 4 cases. (17325961)
2006
28
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations. (16794503)
2006
29
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. (16159874)
2005
30
An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. (15755903)
2005
31
Postmortem diagnosis of Diamond-Blackfan anemia. (15591911)
2004
32
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (12750732)
2003
33
Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. (14608205)
2003
34
Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. (12142794)
2002
35
Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia. (11293287)
2001
36
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. (11563775)
2001
37
Diamond-Blackfan anemia. (10698294)
2000
38
Diamond-blackfan anemia and cyclosporine therapy revisited. (10779036)
2000
39
Diamond-Blackfan anemia and midline defects. (11037867)
2000
40
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. (10753603)
2000
41
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. (9792865)
1998
42
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. (9357971)
1997
43
Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. (9012937)
1997
44
Diamond-blackfan anemia in pregnancy. (8159364)
1994
45
Oral megadose methylprednisolone for the treatment of Diamond-Blackfan anemia. (7880310)
1994
46
Megadose methylprednisolone for Diamond-Blackfan anemia. (8438909)
1993
47
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. (8217543)
1993
48
Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the steel locus. (1718489)
1991
49
Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. (2649168)
1989
50
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. (621285)
1978

Variations for Diamond-Blackfan Anemia

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Clinvar genetic disease variations for Diamond-Blackfan Anemia:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_000969.3(RPL5): c.244G> T (p.Glu82Ter)single nucleotide variantPathogenicGRCh37Chr 1, 93300390: 93300390
2NM_000969.3(RPL5): c.664C> T (p.Gln222Ter)single nucleotide variantPathogenicGRCh37Chr 1, 93303149: 93303149
3NM_000969.3(RPL5): c.67C> T (p.Arg23Ter)single nucleotide variantPathogenicrs121434405GRCh37Chr 1, 93299009: 93299009
4NM_000969.3(RPL5): c.418G> A (p.Gly140Ser)single nucleotide variantPathogenicrs121434406GRCh37Chr 1, 93301840: 93301840

Expression for genes affiliated with Diamond-Blackfan Anemia

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
p53 pathway37
9.6RPL11, RPL5
2
Show member pathways
8.3RPS26, RPS7, RPS19, RPS17, RPS10, RPS24
3
Show member pathways
5.8RPS19, RPL26, RPL5, RPS7, RPS26, RPS17
4
Show member pathways
5.8RPL26, RPL5, RPS7, RPS26, RPS19, RPS17
55.8RPS26, RPS7, RPL5, RPL26, RPS19, RPS17
6
Show member pathways
Cytoplasmic Ribosomal Proteins37
5.8RPS26, RPL15, RPL11, RPS24, RPL35A, RPS10
7
Show member pathways
5.5RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17

Compounds for genes affiliated with Diamond-Blackfan Anemia

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Sources:
44Novoseek, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1puromycin44 1110.2RPL15, RPL11
2rrna449.0RPL11, RPS19, RPL5

GO Terms for genes affiliated with Diamond-Blackfan Anemia

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

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:0159359.8RPS24, RPS26
2cytosolic small ribosomal subunitGO:0226278.4RPS24, RPS26, RPS7, RPS19, RPS17, RPS10
3ribosomeGO:0058408.1RPS17, RPS10, RPS7, RPL15, RPS19
4cytosolic large ribosomal subunitGO:0226258.1RPL5, RPL26, RPL11, RPL15, RPL35A
5extracellular vesicular exosomeGO:0700627.8RPL26, RPL5, RPS19, RPL35A, RPL11, RPS26
6nucleolusGO:0057307.7RPS10, RPS24, RPS19, RPL5, RPS26, RPL11
7cytosolGO:0058295.8RPS26, RPL35A, RPL5, RPL26, RPS19, RPS7

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:0004629.9RPS19, RPS24
2ribosomal small subunit assemblyGO:0000289.7RPS17, RPS19
3erythrocyte differentiationGO:0302189.7GATA1, RPS19
4erythrocyte homeostasisGO:0341019.5RPS24, RPS17
5ribosomal small subunit biogenesisGO:0422749.3RPS24, RPS17, RPS19, RPS7
6ribosomal large subunit biogenesisGO:0422738.9RPL5, RPL26, RPL35A, RPL11
7rRNA processingGO:0063647.8RPL11, RPS24, RPL35A, RPS17, RPS19, RPL26
8SRP-dependent cotranslational protein targeting to membraneGO:0066146.1RPS7, RPS26, RPL5, RPL15, RPL11, RPS24
9viral processGO:0160326.1RPL26, RPL5, RPS7, RPS26, RPS19, RPS17
10RNA metabolic processGO:0160706.1RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17
11mRNA metabolic processGO:0160716.1RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17
12gene expressionGO:0104676.1RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17
13viral transcriptionGO:0190836.0RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
14viral life cycleGO:0190586.0RPS26, RPL15, RPL11, RPS24, RPL35A, RPS10
15nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:0001846.0RPL5, RPS7, RPS26, RPL26, RPS19, RPL15
16translationGO:0064126.0RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17
17translational initiationGO:0064136.0RPL15, RPL11, RPS24, RPL35A, RPS26, RPS7
18translational terminationGO:0064155.9RPS24, RPL35A, RPS10, RPS17, RPS19, RPL26
19translational elongationGO:0064145.9RPL15, RPL11, RPS24, RPS26, RPS7, RPL5
20cellular protein metabolic processGO:0442675.8RPL15, RPL11, RPS24, RPL35A, RPS10, RPS17

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

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:0037237.7RPS7, RPL5, RPL26, RPL11, RPL15
2protein bindingGO:0055156.5RPS26, RPS7, RPL5, RPS19, RPS10, RPL11
3structural constituent of ribosomeGO:0037356.4RPL15, RPS26, RPS7, RPL5, RPL26, RPS19
4poly(A) RNA bindingGO:0448225.7RPS26, RPS7, RPL5, RPL26, RPS19, RPS17

Products for genes affiliated with Diamond-Blackfan Anemia

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Sources for Diamond-Blackfan Anemia

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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