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BDA
MCID: DMN001
MIFTS: 69

Diamond-Blackfan Anemia (BDA)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Diamond-Blackfan Anemia

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MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 12 74 24 52 25 58 36 29 54 6 15 37
Congenital Pure Red Cell Aplasia 52 25 58 54
Anemia, Diamond-Blackfan 74 43 39 71
Aase Syndrome 52 25 58 71
Erythrogenesis Imperfecta 52 25 71
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 52 58
Congenital Hypoplastic Anemia 52 71
Blackfan-Diamond Anemia 52 58
Aase-Smith Ii Syndrome 52 58
Congenital Prca 52 58
Dba 52 25
Bds 52 25
Congenital Hypoplastic Anemia of Blackfan and Diamond 25
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 52
Aregenerative Anemia Chronic Congenital 52
Congenital Erythroid Hypoplastic Anemia 25
Chronic Congenital Agenerative Anemia 25
Red Cell Aplasia, Pure Hereditary 52
Pure Hereditary Red Cell Aplasia 25
Congenital Pure Red Cell Anemia 25
Hypoplastic Congenital Anemia 25
Anemia Diamond Blackfan Type 52
Inherited Erythroblastopenia 25
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 71
Blackfan-Diamond Syndrome 25
Blackfan Diamond Syndrome 52
Blackfan-Diamond Disease 25
Blackfan Diamond Anemia 25
Aase-Smith Syndrome Ii 25
Aase Smith Syndrome 2 71
Bda 25

Characteristics:

Orphanet epidemiological data:

58
blackfan-diamond anemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

24
Penetrance Penetrance is incomplete.

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1339
KEGG 36 H00237
MeSH 43 D029503
NCIt 49 C61236
SNOMED-CT 67 88854002
ICD10 32 D61.01
MESH via Orphanet 44 D029503
ICD10 via Orphanet 33 D61.0
UMLS via Orphanet 72 C1260899 C2931850
Orphanet 58 ORPHA124
UMLS 71 C0265265 C0340951 C0949116 more
Sources

Summaries for Diamond-Blackfan Anemia

About this section
Genetics Home Reference : 25 Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body. 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). People with Diamond-Blackfan anemia have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS), which is a disorder in which immature blood cells fail to develop normally. Individuals with Diamond-Blackfan anemia also have an increased risk of developing a bone marrow cancer known as acute myeloid leukemia (AML), a type of bone cancer called osteosarcoma, and other cancers. Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades that are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slow growth leading to short stature. Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias). The severity of Diamond-Blackfan anemia may vary, even within the same family. Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been identified. This form of the disorder typically has less severe symptoms. For example, some affected individuals have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.

MalaCards based summary : Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 15 with mandibulofacial dysostosis. An important gene associated with Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Ribosome and Metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are arrhythmia and pallor

Disease Ontology : 12 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.

NIH Rare Diseases : 52 Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells . Symptoms may include a shortage of red blood cells (anemia), physical abnormalities such as small head size (microcephaly ) characteristic facial features, cleft palate , cleft lip , short and webbed neck, small shoulder blades, and defects of the hands (mostly of the thumbs), as well as defects of the genitalia, urinary tract, eyes and heart. In some cases there is also short stature . Diamond-Blackfan anemia is caused by mutations in several genes , some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19 , RPL5 , RPS10 , RPL11 , RPL35A , RPS7 , RPS17 , RPS24 , RPS26 and GATA1 genes. Different subtypes exist and are divided based on the specific gene mutated; however, they have similar features. Patients with mutations in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with mutations in the RPL11 gene have thumb anomalies more frequently than people with the other types. Mutations in the GATA1 gene are associated with severe anemia. Most cases are isolated, but about 45% of people with Diamond-Blackfan anemia inherit this condition from a parent. Inheritance is typically autosomal dominant , but can rarely be X-linked . Treatment may involve corticosteroids , blood transfusions , a bone marrow transplant or stem cell transplantation . The severity of the disease is very varied. People with Diamond-Blackfan anemia may have an increased risk of having diseases related to a bone marrow defect, such as myelodysplastic syndrome , and certain cancers . Adults with the disease may have hormonal problems in later life, specially adrenal insufficiency , hypogonadism and hypothyroidism .

KEGG : 36 Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous congenital erythroid aplasia that develops within the first year of life. Faulty ribosome biogenesis is hypothesized to be the underlying defect, leading to erythroid failure due to accelerated apoptosis in affected erythroid progenitors/precursors.

Wikipedia : 74 Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA... more...

GeneReviews: NBK7047
Sources

Related Diseases for Diamond-Blackfan Anemia

About this section

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia-Like
Diamond-Blackfan Anemia 18 Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20

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

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 35.7 RPS19 RPL5
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 35.6 TSR2 RPS28 RPS26
3 congenital hypoplastic anemia 34.2 RPS24 RPS19 RPS17 RPL5 RPL35A RPL11
4 macrocytic anemia 33.1 TSR2 RPS29 RPS28 RPS26 RPS24 RPS19
5 treacher collins syndrome 1 32.3 TP53 RPS29 RPS26 RPS24 RPS19 RPS17
6 dyskeratosis congenita 32.2 TP53 RPS29 RPS26 RPS24 RPS19 RPS17
7 shwachman-diamond syndrome 1 32.2 RPS29 RPS28 RPS26 RPS24 RPS19 RPS17
8 aplastic anemia 32.0 TP53 RPS19 RPL5 GATA1
9 pure red-cell aplasia 31.9 RPS19 RPS17
10 pierre robin syndrome 31.5 RPL35 RPL26 RPL18 RPL15 RPL11
11 cartilage-hair hypoplasia 31.5 RPS24 RPS19 RPL5 RPL35A RPL11
12 diamond-blackfan anemia 10 13.1
13 diamond-blackfan anemia 11 13.1
14 diamond-blackfan anemia 3 13.1
15 diamond-blackfan anemia 4 13.1
16 diamond-blackfan anemia 7 13.1
17 diamond-blackfan anemia 8 13.1
18 diamond-blackfan anemia 5 13.1
19 diamond-blackfan anemia 6 13.1
20 diamond-blackfan anemia 9 13.1
21 diamond-blackfan anemia 12 13.1
22 diamond-blackfan anemia 13 13.1
23 diamond-blackfan anemia 14 with mandibulofacial dysostosis 13.1
24 diamond-blackfan anemia 20 13.1
25 diamond-blackfan anemia 16 13.1
26 diamond-blackfan anemia 17 13.1
27 diamond-blackfan anemia 18 13.1
28 diamond-blackfan anemia 19 13.1
29 diamond-blackfan anemia 2 13.0
30 diamond-blackfan anemia-like 12.9
31 behcet syndrome 12.2
32 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.9
33 bipolar disorder 11.6
34 boomerang dysplasia 11.6
35 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.6
36 acquired pure red cell aplasia 11.6
37 intellectual disability - athetosis - microphthalmia 11.5
38 binswanger's disease 11.5
39 dementia - subcortical 11.5
40 subcortical arteriosclerotic encephalopathy 11.5
41 bipolar i disorder 11.5
42 deficiency anemia 11.5
43 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.5
44 aase-smith syndrome i 11.4
45 brody myopathy 11.3
46 facio skeletal genital syndrome rippberger type 11.2
47 brachydactyly 11.2
48 red cell aplasia 11.1
49 inherited bone marrow failure syndromes 11.0
50 major affective disorder 8 10.8

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



Diseases related to Diamond-Blackfan Anemia
Sources

Symptoms & Phenotypes for Diamond-Blackfan Anemia

About this section

Human phenotypes related to Diamond-Blackfan Anemia:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
2 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
3 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
6 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
7 abnormality of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0001155
8 abnormality of the genital system 58 31 frequent (33%) Frequent (79-30%) HP:0000078
9 abnormality of the urinary system 58 31 frequent (33%) Frequent (79-30%) HP:0000079
10 macrocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001972
11 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
12 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
13 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
14 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
15 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
16 anemia 58 Very frequent (99-80%)
17 neoplasm 58 Occasional (29-5%)
18 growth delay 58 Very frequent (99-80%)

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

26 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 11.15 RPL5 RPS15A RPS17 RPS19 RPS29 RPS7
2 Decreased viability GR00240-S-1 11.15 GATA1 RPL15 RPL26 RPS28 TP53
3 Decreased viability GR00381-A-1 11.15 RPL15 RPS28 RPL11 RPL18 RPL35A RPS19
4 Decreased viability GR00402-S-2 11.15 GATA1 RPL15 RPL26 RPS28 TP53 ADA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.93 RPS19
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.93 RPS29
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.93 RPS17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.93 RPS17
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.93 RPS15A RPS17 RPS19 RPS29
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.93 RPS29
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.93 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.93 RPS15A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.93 RPS29
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.93 RPS17 RPS19 RPS29
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.93 RPS15A RPS19
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.93 RPS15A RPS17
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.93 RPS17 RPS19
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.93 RPS15A RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.93 RPS17
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.93 RPS15A
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.93 RPS15A
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.93 RPS15A RPS17
23 Decreased NF-kappaB reporter expression GR00312-A 10.43 RPL11 RPL15 RPL18 RPL26 RPL35 RPL35A
24 FOXO1 nuclear localization GR00247-A-1 10.4 RPL11 RPL15 RPS24 RPS7
25 FOXO1 nuclear localization GR00247-A-2 10.4 RPL11 RPL15 RPS24 RPS7
26 Increased vaccinia virus (VACV) infection GR00249-S 10.38 ADA2 GATA1 RPL11 RPL15 RPL18 RPL26
27 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.37 ADA2 RPL11 RPL15 RPL18 RPL35 RPL35A
28 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 10.31 GATA1 RPL11 RPL15 RPL18 RPL26 RPL35A
29 no effect GR00402-S-1 10.26 ADA2 GATA1 RPL11 RPL15 RPL18 RPL26
30 Increased viability GR00386-A-1 10.24 ADA2 RPL11 RPL15 RPL18 RPL26 RPL35A
31 Decreased Hepatitis C virus replication GR00180-A-1 10.11 RPS15A RPS19 RPS24 RPS26 RPS28 RPS29
32 G0/1 arrest GR00098-A-2 10.08 RPL11 RPL18 RPL35A RPS19 RPS24 RPS26
33 Decreased cell number GR00303-A 9.97 RPL11 RPL35 RPL5 RPS19 RPS29
34 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.97 RPL11 RPL15 RPL35 RPL35A RPS15A RPS17
35 HIV Rev nuclear localization GR00247-A-3 9.76 RPL11 RPL15 RPS24 RPS7
36 Decreased viability with SS1P at EC30 GR00376-A-2 9.69 RPL11 RPS15A RPS28
37 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
38 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.44 RPL11 RPL18 RPL26 RPL35 RPL35A RPL5
39 Nuclear 60S biogenesis defects GR00209-A-3 9.43 RPL11 RPL18 RPL26 RPL35 RPL35A RPL5
Sources

Drugs & Therapeutics for Diamond-Blackfan Anemia

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Drugs for Diamond-Blackfan Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
5
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
6
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
7 Iron Chelating Agents Phase 4
8 Chelating Agents Phase 4
9 Nutrients Phase 4
10 Trace Elements Phase 4
11 Micronutrients Phase 4
12 Anti-Infective Agents Phase 4
13 Immunologic Factors Phase 4
14 Antifungal Agents Phase 4
15 Immunosuppressive Agents Phase 4
16 Calcineurin Inhibitors Phase 4
17 Antibiotics, Antitubercular Phase 4
18 Anti-Bacterial Agents Phase 4
19 Orange Approved Phase 3
20
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
21
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
22
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
23
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
24
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704
25
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
26
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
27 Antilymphocyte Serum Phase 2, Phase 3
28 Antirheumatic Agents Phase 2, Phase 3
29 Antineoplastic Agents, Immunological Phase 2, Phase 3
30 Alkylating Agents Phase 2, Phase 3
31 Antimetabolites Phase 2, Phase 3
32 Adjuvants, Immunologic Phase 2, Phase 3
33 Antiviral Agents Phase 2, Phase 3
34
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
35
Deferiprone Approved Phase 2 30652-11-0 2972
36
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
37
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
38
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
39
Trifluoperazine Approved, Investigational Phase 1, Phase 2 117-89-5 5566
40
Melphalan Approved Phase 2 148-82-3 4053 460612
41
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
42
Mycophenolic acid Approved Phase 2 24280-93-1 446541
43
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
44
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
45
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
46
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
47
leucovorin Approved Phase 2 58-05-9 6006 143
48 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
49
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
50
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
2 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
3 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
4 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
5 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
6 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
7 A One Year, Open-label, Single-arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 (20 mg/kg/Day) in Patients Diagnosed With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
8 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
9 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
10 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
11 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
12 A Pilot Study of Recombinant Humanized Anti- Cluster of Differentiation Antigen 20 (Anti-CD20) Antibody (Rituximab) in Patients With Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
13 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
14 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
15 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
16 Pilot Study MUD HCT:Pts High Risk Sickle Cell,Other Non-Malignant RBC Disorders- Reduced Intensity Preparative Regimen, HAPLO-Identical Mesenchymal Stromal Cells Completed NCT00957931 Phase 2
17 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
18 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
19 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
20 A Multicenter, Randomized, Open-label Phase II Trial Evaluating Deferasirox Compared With Deferoxamine in Patients With Cardiac Iron Overload Due to Chronic Blood Transfusions Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
21 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
22 Phase I/II, Open-Label Study to Determine Safety and Efficacy of Sotatercept (ACE-011) in Adults With Red Blood Cell Transfusion- Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
23 Phase I/II, Open Label Study to Determine Safety of Trifluoperazine (TFP) in Adults With Red Blood Cell Transfusion-Dependent Diamond Blackfan Anemia Recruiting NCT03966053 Phase 1, Phase 2 Trifluoperazine
24 T-Cell Depleted, Alternative Donor Transplant in Pediatric and Adult Patients With Severe Sickle Cell Disease (SCD) and Other Transfusion-Dependent Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
25 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
26 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
27 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
28 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplant for Malignant Disease Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
29 Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation For Severe Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-Thalassemia Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
30 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
31 The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance Using Bone Marrow Failure as a Model: a Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
32 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
33 Follow-up of Phase 1/2 Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
34 Allogeneic Stem Cell Transplantation for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion - NYMC 588 Not yet recruiting NCT04099966 Phase 2 alpha beta depletion
35 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
36 A Pilot Study of Recombinant Humanized Anti-Interleukin (IL-2) Receptor Antibody (Daclizumab) in Patients With Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Terminated NCT00001962 Phase 2 Daclizumab
37 Protocol for Related Donor Hematopoietic Stem Cell Transplantation (HSCT) for Treatment of Symptomatic Genetic Lymphohematological Diseases Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
38 Metoclopramide to Treat Anemia in Patients With Myelodysplastic Syndrome (MDS) Withdrawn NCT00120653 Phase 2 Metoclopramide
39 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
40 A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
41 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
42 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
43 A Pilot Study of Lenalidomide in Adult Diamond-Blackfan Anemia Patients With Red Blood Cell Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
44 Modulation of Iron Deposition in Sickle Cell Disease and Other Hemoglobinopathies SURVEY STUDY Unknown status NCT01913548
45 Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias Unknown status NCT01114776
46 Hematopoietic Stem Cell Transplantation (HSCT) From Partially Matched Family Donors for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias: A Pilot Study Completed NCT00244010
47 High-Tc Susceptometer to Monitor Transfusional Iron Overload (NSR Device) Completed NCT01241357
48 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
49 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
50 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015

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.
Stem-cell-based therapeutic approaches for Diamond-Blackfan Anemia:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Hematopoietic stem cells for refractory severe aplastic anemia or refractory cytopenias
Embryonic/Adult Cultured Cells Related to Diamond-Blackfan Anemia:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
Peripheral blood-derived hematopoietic stem cells

Cochrane evidence based reviews: anemia, diamond-blackfan

Sources

Genetic Tests for Diamond-Blackfan Anemia

About this section

Genetic tests related to Diamond-Blackfan Anemia:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 29
Sources

Anatomical Context for Diamond-Blackfan Anemia

About this section

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

40
Bone, Bone Marrow, Heart, Eye, T Cells, Myeloid, Kidney
Sources

Publications for Diamond-Blackfan Anemia

About this section

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 636)
# Title Authors PMID Year
1
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 54 61 24 6
17517689 2007
2
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 54 61 24 6
17186470 2006
3
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 54 61 24 6
10590074 1999
4
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. 54 61 24 6
10598818 1999
5
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 61 24 6
24942156 2014
6
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 61 24 6
24829207 2014
7
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 61 24 6
23812780 2013
8
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 61 24 6
22431104 2012
9
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 61 24 6
20116044 2010
10
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 61 24 6
19061985 2008
11
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 61 24 6
18535205 2008
12
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. 61 24 6
17647292 2007
13
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. 54 61 6
12586610 2003
14
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 24 6
9988267 1999
15
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 61 6
27882484 2017
16
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 54 61 24
19773262 2010
17
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 61 6
19816270 2009
18
Diamond-Blackfan Anemia 61 6
20301769 2009
19
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. 54 61 24
17962699 2008
20
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. 54 61 24
17376718 2007
21
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 61 6
17483715 2007
22
Impaired ribosome biogenesis in Diamond-Blackfan anemia. 54 61 24
17053056 2007
23
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. 54 61 24
16990592 2007
24
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. 54 61 24
16159874 2005
25
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 54 61 24
12750732 2003
26
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. 54 61 24
12351378 2002
27
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 61 6
11424144 2001
28
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 54 61 24
11112378 2000
29
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. 61 52
29081386 2018
30
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 61 24
27909223 2017
31
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 61 24
25946618 2015
32
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. 61 24
25132370 2014
33
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 61 24
25042156 2014
34
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 61 24
24453067 2014
35
Altered translation of GATA1 in Diamond-Blackfan anemia. 61 24
24952648 2014
36
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. 61 24
24675553 2014
37
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 6
23718193 2013
38
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 61 24
22689679 2012
39
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 61 24
22706301 2012
40
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. 61 24
22362038 2012
41
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 61 24
22262766 2012
42
Ribosomal protein gene deletions in Diamond-Blackfan anemia. 61 24
22045982 2011
43
How I treat Diamond-Blackfan anemia. 61 24
20651069 2010
44
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. 61 24
20378560 2010
45
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. 61 24
19953637 2010
46
Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. 61 24
19915471 2010
47
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. 61 24
19191325 2009
48
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. 61 24
18515656 2008
49
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. 61 24
18230666 2008
50
Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia. 61 24
17344464 2007
Sources

Variations for Diamond-Blackfan Anemia

About this section

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6 (show top 50) (show all 192) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL11 NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)SNV Pathogenic 5751 rs121434389 1:24020362-24020362 1:23693872-23693872
2 RPS24 NM_001142283.1(RPS24):c.46C>T (p.Arg16Ter)SNV Pathogenic 7246 rs104894189 10:79795152-79795152 10:78035394-78035394
3 RPS24 NM_001142283.1(RPS24):c.1A>G (p.Met1Val)SNV Pathogenic 265439 rs886039545 10:79793660-79793660 10:78033902-78033902
4 RPL5 NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)SNV Pathogenic 411871 rs1060503527 1:93299160-93299160 1:92833603-92833603
5 subset of 59 genes: KDM6B , TP53 NC_000017.10:g.(?_7572921)_(8285634_?)deldeletion Pathogenic 463365 17:7572921-8285634 17:7669603-8382316
6 RPS19 NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)SNV Pathogenic 463372 rs1555841301 19:42373113-42373113 19:41869043-41869043
7 RPS19 NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs)short repeat Pathogenic 463373 rs1555841356 19:42373220-42373221 19:41869150-41869151
8 GATA1 NM_002049.3(GATA1):c.89C>G (p.Ser30Ter)SNV Pathogenic 465134 rs1557020021 X:48649605-48649605 X:48791198-48791198
9 GATA1 NM_002049.3(GATA1):c.21del (p.Ser8fs)deletion Pathogenic 465133 rs1557020001 X:48649534-48649534 X:48791127-48791127
10 RPL5 NC_000001.10:g.(?_93297666)_(93299223_?)deldeletion Pathogenic 532183 1:93297666-93299223 1:92832109-92833666
11 RPL5 NM_000969.5(RPL5):c.256dup (p.Tyr86fs)duplication Pathogenic 463366 rs1553121909 1:93300401-93300402 1:92834844-92834845
12 RPL11 NM_000975.5(RPL11):c.111del (p.Lys38fs)deletion Pathogenic 532180 rs1553121684 1:24019202-24019202 1:23692712-23692712
13 TP53 NM_000546.5(TP53):c.1077del (p.Ser362fs)deletion Pathogenic 549855 rs1555524370 17:7573950-7573950 17:7670632-7670632
14 TP53 NM_000546.5(TP53):c.1083del (p.Ser362fs)deletion Pathogenic 549856 rs1555524354 17:7573944-7573944 17:7670626-7670626
15 RPL11 NC_000001.10:g.(?_24018304)_(24022873_?)deldeletion Pathogenic 583762 1:24018304-24022873 1:23691814-23696383
16 RPL5 NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)SNV Pathogenic 572903 rs1558283853 1:93299012-93299012 1:92833455-92833455
17 RPL5 NM_000969.5(RPL5):c.169_172del (p.Asn57fs)deletion Pathogenic 579583 rs1558284033 1:93299194-93299197 1:92833637-92833640
18 RPL5 NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)SNV Pathogenic 570764 rs1558284062 1:93299215-93299215 1:92833658-92833658
19 RPS19 NM_001022.4(RPS19):c.384_385del (p.Asp130fs)deletion Pathogenic 580015 rs869066130 19:42373795-42373796 19:41869725-41869726
20 RPL11 NM_000975.5(RPL11):c.62_63del (p.Cys21fs)deletion Pathogenic 643018 1:24019153-24019154 1:23692663-23692664
21 RPL5 NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)SNV Pathogenic 664540 1:93298990-93298990 1:92833433-92833433
22 RPL5 NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)duplication Pathogenic 649954 1:93299183-93299184 1:92833626-92833627
23 RPL5 NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)short repeat Pathogenic 662012 1:93299200-93299201 1:92833643-92833644
24 GATA1 NM_002049.3(GATA1):c.94dup (p.Val32fs)duplication Pathogenic 566070 rs1569499310 X:48649606-48649607 X:48791199-48791200
25 RPS10 NM_001014.5(RPS10):c.285_292del (p.Arg96fs)deletion Pathogenic 653431 6:34392476-34392483 6:34424699-34424706
26 RPS24 NM_001142283.1(RPS24):c.13_14del (p.Val5fs)deletion Pathogenic 662877 10:79795119-79795120 10:78035361-78035362
27 GATA1 NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)duplication Pathogenic 660513 X:48649520-48649521 X:48791113-48791114
28 GATA1 NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)duplication Pathogenic 647140 X:48649679-48649680 X:48791272-48791273
29 RPL11 NC_000001.10:g.(?_24022278)_(24022873_?)deldeletion Pathogenic 642046 1:24022278-24022873 1:23695788-23696383
30 RPL11 NM_000975.5(RPL11):c.508-2A>GSNV Pathogenic 639774 1:24022832-24022832 1:23696342-23696342
31 RPS19 NC_000019.9:g.(?_42373091)_(42375455_?)deldeletion Pathogenic 650720 19:42373091-42375455
32 RPS19 NM_001022.4(RPS19):c.173-2A>GSNV Pathogenic 644396 19:42373099-42373099 19:41869029-41869029
33 RPL5 NM_000969.5(RPL5):c.4-7_4-4deldeletion Likely pathogenic 570802 rs1558283792 1:93298936-93298939 1:92833379-92833382
34 RPS19 NM_001022.4(RPS19):c.72-1G>ASNV Likely pathogenic 647481 19:42365180-42365180 19:41861111-41861111
35 GATA1 NM_002049.3(GATA1):c.220+1G>CSNV Likely pathogenic 567419 rs1569499366 X:48649737-48649737 X:48791330-48791330
36 RPL11 NM_000975.5(RPL11):c.264+1G>ASNV Likely pathogenic 532177 rs1553121795 1:24020404-24020404 1:23693914-23693914
37 RPS19 NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)SNV Likely pathogenic 412282 rs1060503688 19:42373794-42373794 19:41869724-41869724
38 RPL5 NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)SNV Likely pathogenic 238199 rs878854146 1:93301748-93301748 1:92836191-92836191
39 RPL5 NM_000969.5(RPL5):c.781G>C (p.Val261Leu)SNV Conflicting interpretations of pathogenicity 298212 rs773839391 1:93306183-93306183 1:92840626-92840626
40 RPL11 NM_000975.5(RPL11):c.102G>A (p.Thr34=)SNV Conflicting interpretations of pathogenicity 296816 rs199772693 1:24019194-24019194 1:23692704-23692704
41 RPL5 NM_000969.5(RPL5):c.-6C>TSNV Conflicting interpretations of pathogenicity 298206 rs199523145 1:93297666-93297666 1:92832109-92832109
42 RPS26 NM_001029.5(RPS26):c.93C>T (p.Pro31=)SNV Conflicting interpretations of pathogenicity 309859 rs760255764 12:56436298-56436298 12:56042514-56042514
43 POLR3A , RPS24 NM_007055.4(POLR3A):c.-103T>ASNV Conflicting interpretations of pathogenicity 301086 rs117201371 10:79789268-79789268 10:78029510-78029510
44 RPS24 NM_001142283.1(RPS24):c.333G>A (p.Lys111=)SNV Conflicting interpretations of pathogenicity 301096 rs144291219 10:79797005-79797005 10:78037247-78037247
45 RPS19 NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)SNV Conflicting interpretations of pathogenicity 329392 rs143477104 19:42364912-42364912 19:41860842-41860842
46 RPS26 NM_001029.5(RPS26):c.-33C>TSNV Uncertain significance 309854 rs372794158 12:56435918-56435918 12:56042134-56042134
47 RPS24 NM_001142283.1(RPS24):c.280-11_280-10deldeletion Uncertain significance 301095 rs756756010 10:79796939-79796940 10:78037181-78037182
48 RPS26 NM_001029.5(RPS26):c.-149G>TSNV Uncertain significance 309851 rs886049686 12:56435802-56435802 12:56042018-56042018
49 RPS26 NM_001029.5(RPS26):c.-80C>TSNV Uncertain significance 309852 rs886049687 12:56435871-56435871 12:56042087-56042087
50 RPS10 NM_001014.5(RPS10):c.-32deldeletion Uncertain significance 356429 rs767826894 6:34393840-34393840 6:34426063-34426063

Copy number variations for Diamond-Blackfan Anemia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 29995 1 23890880 23895502 Deleted RPL11 Diamond-Blackfan anemia
2 37614 1 93070181 93080069 Deleted RPL5 Diamond-Blackfan anemia
3 95791 15 80608215 81006263 Deleted RPS17 Diamond-Blackfan anemia
4 130016 19 47055827 47067324 Deleted RPS19 Diamond-Blackfan anemia
5 174085 3 199161448 199167118 Deleted RPL35A Diamond-Blackfan anemia
Sources

Expression for Diamond-Blackfan Anemia

About this section
Search GEO for disease gene expression data for Diamond-Blackfan Anemia.
Sources

Pathways for Diamond-Blackfan Anemia

About this section

Pathways related to Diamond-Blackfan Anemia according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome hsa03010

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 14.01 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
2
Viral mRNA Translation 65
Show member pathways
 13.71 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
3
Gene Expression 65
Show member pathways
 13.62 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
4
HIV Life Cycle 65
Show member pathways
 13.59 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
5
Metabolism of proteins 65
Show member pathways
 13.54 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
6
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.66 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
7
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S 65
Show member pathways
 12.4 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
8
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.17 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
9
p53 pathway 1
11.4 TP53 RPL5 RPL11
Sources

GO Terms for Diamond-Blackfan Anemia

About this section

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 TP53 RPS7 RPS26 RPS24 RPS19 RPS17
2 nucleoplasm GO:0005654 10.34 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
3 cytosol GO:0005829 10.3 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
4 extracellular exosome GO:0070062 10.18 RPS29 RPS28 RPS26 RPS19 RPS15A RPL5
5 nucleolus GO:0005730 10.09 TP53 RPS7 RPS19 RPS10 RPL5 RPL35
6 focal adhesion GO:0005925 10.02 RPS7 RPS29 RPS19 RPS17 RPS10 RPL5
7 rough endoplasmic reticulum GO:0005791 9.81 RPS29 RPS28 RPS26 RPL18
8 cytosolic small ribosomal subunit GO:0022627 9.81 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
9 cytosolic large ribosomal subunit GO:0022625 9.8 RPL5 RPL35A RPL35 RPL26 RPL18 RPL15
10 intracellular GO:0005622 9.8 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
11 polysomal ribosome GO:0042788 9.72 RPS29 RPS28 RPS26 RPL18 RPL11
12 small ribosomal subunit GO:0015935 9.71 RPS29 RPS28 RPS26 RPS24
13 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.63 RPS29 RPS28 RPS26
14 ribosome GO:0005840 9.53 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 viral transcription GO:0019083 10.22 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
2 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.16 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
3 rRNA processing GO:0006364 10.07 TSR2 RPS7 RPS28 RPS24 RPS19 RPS17
4 translational initiation GO:0006413 10.06 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
5 cytoplasmic translation GO:0002181 10.01 RPS29 RPS28 RPS26 RPL35A RPL26 RPL18
6 translation GO:0006412 9.86 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
7 protein stabilization GO:0050821 9.85 TP53 RPS7 RPL5 RPL11
8 ribosomal small subunit biogenesis GO:0042274 9.83 RPS7 RPS28 RPS24 RPS19 RPS17
9 ribosomal large subunit biogenesis GO:0042273 9.76 RPL5 RPL35A RPL26 RPL11
10 regulation of signal transduction by p53 class mediator GO:1901796 9.75 TP53 RPL5 RPL11
11 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPS7 RPL5 RPL11
12 ribosomal small subunit assembly GO:0000028 9.67 RPS28 RPS19 RPS10
13 negative regulation of ubiquitin protein ligase activity GO:1904667 9.65 RPS7 RPL5 RPL11
14 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.59 TSR2 RPS19
15 ribosomal large subunit assembly GO:0000027 9.58 RPL5 RPL11
16 maturation of SSU-rRNA GO:0030490 9.57 RPS28 RPS19
17 erythrocyte homeostasis GO:0034101 9.56 RPS24 RPS17
18 negative regulation of protein neddylation GO:2000435 9.54 RPL5 RPL11
19 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.53 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
20 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.52 RPS7 RPL11

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.86 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
2 structural constituent of ribosome GO:0003735 9.53 RPS7 RPS29 RPS28 RPS26 RPS24 RPS19
3 mRNA 3'-UTR binding GO:0003730 9.5 TP53 RPS7 RPL5
4 mRNA 5'-UTR binding GO:0048027 9.43 RPS7 RPL5 RPL26
5 5S rRNA binding GO:0008097 9.37 RPL5 RPL11
6 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPS7 RPL5 RPL11
Sources

Sources for Diamond-Blackfan Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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