MCID: DMN001
MIFTS: 66

Diamond-Blackfan Anemia malady

Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Summaries for Diamond-Blackfan Anemia

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NIH Rare Diseases:41 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 aase syndrome, is related to diamond-blackfan anemia 1 and thalassemia, and has symptoms including pallor, arrhythmia and abnormality of the genital system. An important gene associated with Diamond-Blackfan Anemia is RPS24 (ribosomal protein S24), and among its related pathways are Lymphocyte Signaling and Hematopoietic cell lineage. The compounds pkh 2 and rrna have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and heart, and related mouse phenotype hematopoietic system.

Disease Ontology:9 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 insufficient levels of red blood cells due to bone marrow dysfunction.

Genetics Home Reference:21 Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).

GeneReviews summary for diamond-b

Aliases & Classifications for Diamond-Blackfan Anemia

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 3CDC, 60UMLS, 55SNOMED-CT, 33MeSH, 27ICD9CM, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Diamond-Blackfan Anemia, Aliases & Descriptions:

Name: Diamond-Blackfan Anemia 30 9 19 41 21 11 43
Aase Syndrome 41 21 47 22 60
Congenital Pure Red Cell Aplasia 41 21 43 47
Erythrogenesis Imperfecta 41 21 60
Blackfan-Diamond Anemia 41 20 47
Dba 41 21 3
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 41 47
Congenital Hypoplastic Anemia 41 60
Blackfan Diamond Anemia 21 22
Aase-Smith Ii Syndrome 41 47
Congenital Prca 41 47
Bds 41 21
Congenital Hypoplastic Anemia of Blackfan and Diamond 21
Congenital Hypoplastic Anemia of Blackfandiamond 19
Chronic Constitutional Pure Red Cell Anaemia 9
Congenital Erythroid Hypoplastic Anemia 21
Anemia Congenital Erythroid Hypoplastic 41
 
Aregenerative Anemia Chronic Congenital 41
Chronic Congenital Agenerative Anemia 21
Red Cell Aplasia, Pure Hereditary 41
Pure Hereditary Red Cell Aplasia 21
Congenital Pure Red Cell Anemia 21
Anemia Hypoplastic Congenital 43
Hypoplastic Congenital Anemia 21
Inherited Erythroblastopenia 21
Anemia Diamond Blackfan Type 41
Blackfan - Diamond Syndrome 9
Blackfan-Diamond Syndrome 21
Blackfan Diamond Syndrome 41
Anemia, Diamond-Blackfan 60
Blackfan-Diamond Disease 21
Aase-Smith Syndrome Ii 21
Aase Smith Syndrome 2 60
Bda 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
aase syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age


External Ids:

Disease Ontology9 DOID:1339
MeSH33 D029503
ICD9CM27 284.01
NCIt38 C61236
Orphanet47 124
MESH via Orphanet34 D029503
ICD10 via Orphanet26 D61.0
UMLS via Orphanet61 C1260899

Related Diseases for Diamond-Blackfan Anemia

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Diseases in the Diamond-Blackfan Anemia family:

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 2 Diamond-Blackfan Anemia 3
Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 13
Diamond-Blackfan Anemia 4 Diamond-Blackfan Anemia 11
Diamond-Blackfan Anemia 1 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

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia 132.1RPS19
2thalassemia30.9GATA1, EPO
3transient erythroblastopenia of childhood30.8KITLG, EPO
4myelofibrosis30.7EPO, THPO
5aplastic anemia30.7THPO, EPO, IL3, RPS19, KITLG, GATA1
6fanconi anemia, complementation group a30.6THPO, IL3, KITLG
7refractory anemia30.6KITLG, IL3, EPO, THPO
8polycythemia30.5KITLG, IL3, EPO, THPO
9leukemia30.4THPO, EPO, IL3, KITLG, GATA1
10diamond-blackfan anemia 710.8
11diamond-blackfan anemia 810.8
12diamond-blackfan anemia 510.8
13diamond-blackfan anemia 910.8
14diamond-blackfan anemia 410.8
15diamond-blackfan anemia 210.7
16diamond-blackfan anemia 310.7
17diamond-blackfan anemia 1110.7
18diamond-blackfan anemia 610.7
19diamond-blackfan anemia 1010.7
20diamond-blackfan anemia 1210.6
21hydrops fetalis10.6
22diamond-blackfan anemia 1310.6
23hematopoietic stem cell transplantation10.6
24rps19-related diamond-blackfan anemia10.6
25rps24-related diamond-blackfan anemia10.6
26rps17-related diamond-blackfan anemia10.6
27rpl35a-related diamond-blackfan anemia10.6
28rpl5-related diamond-blackfan anemia10.6
29rpl11-related diamond-blackfan anemia10.6
30rps7-related diamond-blackfan anemia10.6
31rps26-related diamond-blackfan anemia10.6
32rps10-related diamond-blackfan anemia10.6
33rpl26-related diamond-blackfan anemia10.6
34gata1-related diamond-blackfan anemia10.6
35hemochromatosis10.5
36klippel-feil syndrome10.5
37sarcoma10.5
38leukemoid reaction10.5GATA1, IL3
39arteriovenous fistula10.5EPO
40macrocytic anemia10.4RPS19, KITLG
41hypersplenism10.4THPO
42thrombocytopenia, congenital amegakaryocytic10.4IL3, THPO
43thrombocytopenia, x-linked10.4THPO, GATA1
44behcet's disease10.4
45megakaryocytic leukemia10.3GATA1, IL3, THPO
46severe congenital neutropenia10.3KITLG, IL3, THPO
47iron deficiency anemia10.3EPO, THPO
48mast cell neoplasm10.3KITLG, IL3
49pancytopenia10.3THPO, EPO, IL3
50cartilage-hair hypoplasia10.3

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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Symptoms:

 47 (show all 20)
  • cardiac rhythm disorder/arrhythmia
  • anaemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • pallor
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of hands
  • structural anomalies of the kidney and the urinary tract
  • structural anomalies of the genital system
  • late puberty/hypogonadism/hypogenitalism
  • facial pain/cephalalgia/migraine
  • macrocytic anemia
  • autosomal dominant inheritance
  • asthenia/fatigue/weakness
  • short/small nose
  • flattened nose
  • thick lips
  • neoplasms/tumors
  • acute leukemia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Diamond-Blackfan Anemia:

(show all 13)
id Description Frequency HPO Source Accession
1 pallor hallmark (90%) HP:0000980
2 arrhythmia hallmark (90%) HP:0011675
3 abnormality of the genital system typical (50%) HP:0000078
4 abnormality of the urinary system typical (50%) HP:0000079
5 cleft palate typical (50%) HP:0000175
6 abnormality of the hand typical (50%) HP:0001155
7 macrocytic anemia typical (50%) HP:0001972
8 migraine typical (50%) HP:0002076
9 thick lower lip vermilion occasional (7.5%) HP:0000179
10 depressed nasal ridge occasional (7.5%) HP:0000457
11 acute leukemia occasional (7.5%) HP:0002488
12 short nose occasional (7.5%) HP:0003196
13 short stature occasional (7.5%) HP:0004322

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
Data from LifeMap, the Embryonic Development and Stem Cells Database
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
3 Aase Syndrome22

Anatomical Context for Diamond-Blackfan Anemia

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MalaCards organs/tissues related to Diamond-Blackfan Anemia:

31
Bone marrow, Bone, Heart, Kidney, T cells, Pancreas

Animal Models for Diamond-Blackfan Anemia or affiliated genes

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MGI Mouse Phenotypes related to Diamond-Blackfan Anemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053979.0GATA1, KITLG, RPS19, RPS7, IL3, EPO

Publications for Diamond-Blackfan Anemia

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Articles related to Diamond-Blackfan Anemia:

(show top 50)    (show all 259)
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
Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. (12359817)
2002
36
Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia. (11293287)
2001
37
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. (11563775)
2001
38
Diamond-Blackfan anemia. (10698294)
2000
39
Diamond-blackfan anemia and cyclosporine therapy revisited. (10779036)
2000
40
Diamond-Blackfan anemia and midline defects. (11037867)
2000
41
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. (10753603)
2000
42
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. (9792865)
1998
43
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
44
Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. (9012937)
1997
45
Diamond-blackfan anemia in pregnancy. (8159364)
1994
46
Oral megadose methylprednisolone for the treatment of Diamond-Blackfan anemia. (7880310)
1994
47
Megadose methylprednisolone for Diamond-Blackfan anemia. (8438909)
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 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1RPS17NM_001021.4(RPS17): c.159T> G (p.Tyr53Ter)single nucleotide variantPathogenicGRCh37Chr 15, 82823390: 82823390
2NM_000969.3(RPL5): c.244G> T (p.Glu82Ter)single nucleotide variantPathogenicGRCh37Chr 1, 93300390: 93300390
3NM_000969.3(RPL5): c.664C> T (p.Gln222Ter)single nucleotide variantPathogenicGRCh37Chr 1, 93303149: 93303149
4RPL11NM_000975.3(RPL11): c.476_477delAA (p.Lys159Argfs)deletionPathogenicGRCh37Chr 1, 24022367: 24022368
5RPL11NM_000975.3(RPL11): c.204delT (p.Ile68Metfs)deletionPathogenicGRCh37Chr 1, 24020343: 24020343
6RPS17NM_001021.4(RPS17): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs116840811GRCh37Chr 15, 82824835: 82824835
7RPS17NM_001021.4(RPS17): c.200_201delGA (p.Gly68Tyrfs)deletionPathogenicrs116840812GRCh37Chr 15, 82823348: 82823349
8NM_000996.2(RPL35A): c.97G> A (p.Val33Ile)single nucleotide variantPathogenicrs116840808GRCh37Chr 3, 197678115: 197678115
9NM_000996.2(RPL35A): c.82_84delCTT (p.Leu28del)deletionPathogenicrs116840807GRCh37Chr 3, 197678100: 197678102
10NM_000996.2(RPL35A): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs116840809GRCh37Chr 3, 197681013: 197681013
11RPL26NM_000987.3(RPL26): c.120_121delGA (p.Lys41Valfs)deletionPathogenicrs397518451GRCh37Chr 17, 8285508: 8285509
12RPL11NM_000975.3(RPL11): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs121434389GRCh37Chr 1, 24020362: 24020362
13RPL11RPL11, 2-BP DEL, 60CTdeletionPathogenic
14RPL11RPL11, 3-BP DEL, 482AGGdeletionPathogenic
15RPL11RPL11, IVS2AS, G-A, -1single nucleotide variantPathogenic
16RPS26NM_001029.3(RPS26): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs143951267GRCh37Chr 12, 56435951: 56435951
17RPS26NM_001029.3(RPS26): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs143951267GRCh37Chr 12, 56435951: 56435951
18RPS26NM_001029.3(RPS26): c.97G> A (p.Asp33Asn)single nucleotide variantPathogenicrs267607023GRCh37Chr 12, 56436302: 56436302
19RPS26RPS26, 1-BP INS, 31GinsertionPathogenic
20RPS26RPS26, IVS1, G-A, +1single nucleotide variantPathogenic
21RPS7NM_001011.3(RPS7): c.147+1G> Asingle nucleotide variantPathogenicrs397507554GRCh37Chr 2, 3623479: 3623479
22NM_000969.3(RPL5): c.67C> T (p.Arg23Ter)single nucleotide variantPathogenicrs121434405GRCh37Chr 1, 93299009: 93299009
23NM_000969.3(RPL5): c.418G> A (p.Gly140Ser)single nucleotide variantPathogenicrs121434406GRCh37Chr 1, 93301840: 93301840
24RPL5RPL5, 2-BP DEL, 173GAdeletionPathogenic
25RPL5RPL5, 1-BP INS, 235TinsertionPathogenic
26RPL5RPL5, 5-BP DEL/39-BP INS, NT498indelPathogenic
27RPL5RPL5, IVS2DS, T-G, +2single nucleotide variantPathogenic
28NM_001014.4(RPS10): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs267607021GRCh37Chr 6, 34392996: 34392996
29RPS10RPS10, 1-BP INS, 260CinsertionPathogenic
30NM_001014.4(RPS10): c.337C> T (p.Arg113Ter)single nucleotide variantPathogenicrs267607022GRCh37Chr 6, 34389570: 34389570
31RPS24NM_001142284.1(RPS24): c.316C> T (p.Gln106Ter)single nucleotide variantPathogenicrs104894188GRCh37Chr 10, 79796988: 79796988
32RPS24NM_001142284.1(RPS24): c.46C> T (p.Arg16Ter)single nucleotide variantPathogenicrs104894189GRCh37Chr 10, 79795152: 79795152
33RPS24NM_001142284.1(RPS24): c.4_6delAACinsTACGGATAG (p.Asn2_Thr4delinsTyrGlyTer)indelPathogenicrs116840806GRCh37Chr 10, 79795110: 79795112
34RPS17RPS17, 2.9-KB DELdeletionPathogenic
35RPS24NM_007055.3: c.-6128_-995deldeletionPathogenicGRCh37Chr 10, 79790160: 79795293
36RPS26NC_000012.12: g.56031044_56051500del20457deletionPathogenicGRCh37Chr 12, 56424828: 56445284
37RPL15NM_020345.3: c.-4414_-2022deldeletionPathogenicGRCh37Chr 3, 23960157: 23962549

Expression for genes affiliated with Diamond-Blackfan Anemia

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GATA1, KITLG, IL3
29.5THPO, EPO, IL3, KITLG
3
Show member pathways
9.2RPS26, RPS7, RPS29, RPS19, RPS17, RPS28
4
Show member pathways
8.4RPS10, RPL35A, RPS24, RPL11, RPL15, RPS28
5
Show member pathways
8.4RPS26, RPS7, RPS29, RPL5, RPL26, RPS19
6
Show member pathways
8.4RPL15, RPL11, RPS26, RPS7, RPS29, RPL5
7
Show member pathways
Cytoplasmic Ribosomal Proteins36
8.4RPS26, RPS7, RPS29, RPL5, RPL26, RPS19
88.2KITLG, RPS26, RPS7, RPS29, RPL5, RPL26

Compounds for genes affiliated with Diamond-Blackfan Anemia

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Compounds related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 41)
idCompoundScoreTop Affiliating Genes
1pkh 24310.4KITLG, IL3
2rrna4310.4RPL5, RPS19, RPL11
3daniplestim4310.4KITLG, IL3
4aclarubicin4310.4IL3, GATA1
5pyronin y4310.4KITLG, THPO
6pegfilgrastim43 1211.4EPO, IL3
7il 114310.3IL3, EPO
8carboxymethylcellulose4310.3KITLG, EPO
9anagrelide43 1211.3EPO, THPO
104-hydroperoxycyclophosphamide4310.3IL3, KITLG
11lenalidomide43 1211.3EPO, IL3
12ag-12964310.3KITLG, IL3
13benzidine4310.2KITLG, EPO
14mafosfamide4310.2KITLG, IL3, THPO
15rhodamine 12343 4911.2KITLG, IL3
16as 10143 5911.1KITLG, IL3
17neomycin4310.1KITLG, IL3, EPO
18zidovudine43 49 1212.1EPO, IL3, KITLG
19hoechst 333424310.0KITLG, THPO
20hydrocortisone43 2 59 1213.0EPO, IL3, KITLG
21pixy3214310.0KITLG, IL3, EPO, THPO
22amifostine43 1211.0THPO, EPO, IL3, KITLG
23filgrastim43 1211.0THPO, EPO, IL3, KITLG
24gm-csf43 2810.9KITLG, IL3, EPO, THPO
25methylcellulose439.9THPO, EPO, IL3, KITLG
26carboplatin43 49 1211.9THPO, EPO, IL3, KITLG
27gp 130439.9THPO, EPO, IL3, KITLG
28imatinib43 49 1211.9THPO, EPO, IL3, KITLG
295-aza-2deoxycytidine439.9KITLG, IL3, EPO, THPO
30actinomycin d439.9GATA1, KITLG, IL3, THPO
31rapamycin439.9KITLG, IL3, EPO, THPO
32ly294002439.8KITLG, IL3, EPO, THPO
33iron43 2410.8GATA1, KITLG, EPO, THPO
34hydroxyurea43 49 1211.8GATA1, KITLG, IL3, EPO, THPO
35calcitriol43 59 24 1212.8KITLG, IL3, EPO
36cytarabine43 49 1211.8THPO, EPO, IL3, KITLG, GATA1
37butyrate439.7GATA1, KITLG, IL3, EPO, THPO
38lactate439.7THPO, EPO, IL3, KITLG
39thymidine43 2410.6THPO, EPO, IL3, KITLG
40dmso439.5GATA1, KITLG, THPO
41creatinine439.4THPO, EPO, IL3, KITLG

GO Terms for genes affiliated with Diamond-Blackfan Anemia

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Cellular components related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:00159359.9RPS26, RPS29, RPS28, RPS24
2cytosolic large ribosomal subunitGO:00226259.8RPL5, RPL26, RPL35A, RPL11, RPL15
3ribosomeGO:00058409.7RPS7, RPS19, RPS17, RPS10, RPL15
4cytosolic small ribosomal subunitGO:00226279.4RPS24, RPS26, RPS7, RPS29, RPS19, RPS17
5nucleolusGO:00057309.1RPS26, RPS7, RPL5, RPS19, RPS10, RPS24
6extracellular vesicular exosomeGO:00700629.1RPS26, RPS29, RPL5, RPL26, RPS19, RPS28
7cytoplasmGO:00057378.9RPS7, RPS29, RPL5, RPS19, RPS28, RPS10
8cytosolGO:00058298.6RPS26, RPS7, RPS29, RPL5, RPL26, RPS19

Biological processes related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:000046210.3RPS19, RPS24
2ribosomal small subunit assemblyGO:000002810.2RPS17, RPS19
3erythrocyte homeostasisGO:003410110.1RPS17, RPS24
4ribosomal large subunit biogenesisGO:004227310.1RPL11, RPL35A, RPL26, RPL5
5embryonic hemopoiesisGO:003516210.0IL3, KITLG, GATA1
6positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.0IL3, EPO
7positive regulation of DNA replicationGO:00457409.9KITLG, IL3, EPO
8ribosomal small subunit biogenesisGO:00422749.9RPS7, RPS19, RPS17, RPS28, RPS24
9positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.8GATA1, KITLG, IL3
10positive regulation of Ras protein signal transductionGO:00465799.7KITLG, EPO
11rRNA processingGO:00063649.2TSR2, RPS7, RPL5, RPL26, RPS19, RPS17
12viral life cycleGO:00190588.8RPL35A, RPS24, RPL11, RPL15, RPS10, RPS26
13mRNA metabolic processGO:00160718.8RPS10, RPL35A, RPS24, RPL11, RPL15, RPS28
14RNA metabolic processGO:00160708.8RPS26, RPS7, RPS29, RPL5, RPL26, RPS19
15viral processGO:00160328.8RPL26, RPS19, RPS17, RPS28, RPS10, RPL35A
16gene expressionGO:00104678.7RPS26, RPS7, RPS29, RPL15, RPL5, RPL26
17cellular protein metabolic processGO:00442678.7RPS29, RPL5, RPL26, RPS19, RPS17, RPS28
18viral transcriptionGO:00190838.7RPL11, RPL15, RPS24, RPL35A, RPS26, RPS7
19translational elongationGO:00064148.7RPS10, RPL35A, RPS24, RPL11, RPL15, RPS28
20translational initiationGO:00064138.7RPS28, RPS10, RPL35A, RPS24, RPL11, RPL15
21translationGO:00064128.7RPS26, RPS7, RPS29, RPL5, RPL26, RPS19
22nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00001848.7RPL5, RPL26, RPS19, RPS17, RPS28, RPS10
23SRP-dependent cotranslational protein targeting to membraneGO:00066148.7RPS7, RPS29, RPL5, RPL26, RPS19, RPS17
24translational terminationGO:00064158.7RPL11, RPL15, RPS24, RPL35A, RPS10, RPS26

Molecular functions related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.8KITLG, IL3, THPO
2RNA bindingGO:00037239.7RPS7, RPL5, RPL26, RPL11, RPL15
3growth factor activityGO:00080839.5THPO, IL3, KITLG
4structural constituent of ribosomeGO:00037358.7RPL15, RPS26, RPS7, RPS29, RPL5, RPL26
5poly(A) RNA bindingGO:00448228.7RPS19, RPL26, RPL5, RPS7, RPS26, RPS17
6protein bindingGO:00055158.4EPO, TSR2, RPS26, RPS7, RPL5, RPS19

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet