BDA
MCID: DMN001
MIFTS: 71

Diamond-Blackfan Anemia (BDA)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diamond-Blackfan Anemia

MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 12 74 25 20 43 58 36 29 54 6 15 37
Congenital Pure Red Cell Aplasia 20 43 58 54
Anemia, Diamond-Blackfan 74 44 39 71
Aase Syndrome 20 43 58 71
Erythrogenesis Imperfecta 20 43 71
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 20 58
Congenital Hypoplastic Anemia 20 71
Blackfan-Diamond Anemia 20 58
Aase-Smith Ii Syndrome 20 58
Congenital Prca 20 58
Dba 20 43
Bds 20 43
Congenital Hypoplastic Anemia of Blackfan and Diamond 43
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 20
Aregenerative Anemia Chronic Congenital 20
Congenital Erythroid Hypoplastic Anemia 43
Chronic Congenital Agenerative Anemia 43
Red Cell Aplasia, Pure Hereditary 20
Pure Hereditary Red Cell Aplasia 43
Congenital Pure Red Cell Anemia 43
Hypoplastic Congenital Anemia 43
Anemia Hypoplastic Congenital 54
Anemia Diamond Blackfan Type 20
Inherited Erythroblastopenia 43
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 71
Blackfan-Diamond Syndrome 43
Blackfan Diamond Syndrome 20
Blackfan-Diamond Disease 43
Blackfan Diamond Anemia 43
Aase-Smith Syndrome Ii 43
Aase Smith Syndrome 2 71
Bda 43

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:

25
Penetrance Penetrance is incomplete.

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Diamond-Blackfan Anemia

MedlinePlus Genetics : 43 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 marrow, bone and myeloid, and related phenotypes are pure red cell aplasia and elevated red cell adenosine deaminase level

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.

GARD : 20 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

Related Diseases for Diamond-Blackfan Anemia

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 212)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 34.2 TP53 RPS24 RPS20 RPS19 RPS10-NUDT3 RPS10
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 33.9 TSR2 RPS28 RPS26
3 diamond-blackfan anemia 9 33.8 RPS10-NUDT3 RPS10
4 diamond-blackfan anemia 6 33.8 RPL5 DIPK1A
5 deficiency anemia 32.7 RPS26 RPS19 RPL11 GATA1
6 macrocytic anemia 32.5 TSR2 RPS29 RPS28 RPS26 RPS24 RPS19
7 pure red-cell aplasia 32.1 RPS26 RPS19 RPS17
8 aplastic anemia 31.8 TP53 RPS19 RPL5 GATA1 DIPK1A
9 treacher collins syndrome 1 31.8 TP53 RPS26 RPS24 RPS20 RPS19 RPS17
10 shwachman-diamond syndrome 1 31.8 TSR2 TP53 RPS29 RPS28 RPS26 RPS24
11 dyskeratosis congenita 31.7 TP53 RPS29 RPS26 RPS24 RPS19 RPS17
12 cartilage-hair hypoplasia 31.1 RPS24 RPS19 RPL5 RPL11
13 pierre robin syndrome 30.9 RPL26 RPL11
14 diamond-blackfan anemia 3 12.0
15 diamond-blackfan anemia 10 12.0
16 diamond-blackfan anemia 4 12.0
17 diamond-blackfan anemia 7 12.0
18 diamond-blackfan anemia 5 12.0
19 diamond-blackfan anemia 8 12.0
20 diamond-blackfan anemia 11 12.0
21 diamond-blackfan anemia 12 12.0
22 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.0
23 diamond-blackfan anemia 13 12.0
24 diamond-blackfan anemia 20 12.0
25 diamond-blackfan anemia 16 11.9
26 diamond-blackfan anemia 17 11.9
27 diamond-blackfan anemia 18 11.9
28 diamond-blackfan anemia 19 11.9
29 diamond-blackfan anemia 2 11.9
30 diamond-blackfan anemia-like 11.8
31 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.3
32 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.2
33 acquired pure red cell aplasia 11.2
34 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.2
35 aase-smith syndrome i 11.2
36 facio skeletal genital syndrome rippberger type 11.0
37 red cell aplasia 11.0
38 inherited bone marrow failure syndromes 10.8
39 hemosiderosis 10.6
40 myelodysplastic syndrome 10.6
41 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.6
42 orofacial cleft 10.6 RPS19 RPS17 RPL5 RPL11
43 hydrops fetalis, nonimmune 10.6
44 osteogenic sarcoma 10.6
45 chromosome 5q deletion syndrome 10.5
46 rare hereditary hemochromatosis 10.5
47 cleft palate, isolated 10.5
48 graft-versus-host disease 10.5
49 skin hemangioma 10.5 RPL5 DIPK1A
50 neutropenia 10.4

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



Diseases related to Diamond-Blackfan Anemia

Symptoms & Phenotypes for Diamond-Blackfan Anemia

Human phenotypes related to Diamond-Blackfan Anemia:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pure red cell aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012410
2 elevated red cell adenosine deaminase level 31 hallmark (90%) HP:0030270
3 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
4 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
5 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
6 increased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0005518
7 persistence of hemoglobin f 58 31 frequent (33%) Frequent (79-30%) HP:0011904
8 reticulocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001896
9 erythroid hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012133
10 macrocytic dyserythropoietic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0005532
11 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
12 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
13 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
15 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
16 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
17 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
18 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
19 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
20 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
21 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
22 short thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009778
23 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
24 partial duplication of thumb phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0009944
25 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
26 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
27 absent thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009777
28 cleft soft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000185
29 abnormality of the thenar eminence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001227
30 normochromic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001895
31 cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0410030
32 radial artery aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0020118
33 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
34 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
35 hypertelorism 58 31 very rare (1%) Very rare (<4-1%) HP:0000316
36 wide nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0000431
37 microtia 58 31 very rare (1%) Very rare (<4-1%) HP:0008551
38 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
39 strabismus 58 31 very rare (1%) Very rare (<4-1%) HP:0000486
40 micrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000347
41 low-set ears 58 31 very rare (1%) Very rare (<4-1%) HP:0000369
42 epicanthus 58 31 very rare (1%) Very rare (<4-1%) HP:0000286
43 coarctation of aorta 58 31 very rare (1%) Very rare (<4-1%) HP:0001680
44 thrombocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001873
45 osteosarcoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002669
46 low anterior hairline 58 31 very rare (1%) Very rare (<4-1%) HP:0000294
47 neutropenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001875
48 malignant genitourinary tract tumor 58 31 very rare (1%) Very rare (<4-1%) HP:0006758
49 developmental glaucoma 58 31 very rare (1%) Very rare (<4-1%) HP:0001087
50 developmental cataract 58 31 very rare (1%) Very rare (<4-1%) HP:0000519

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.62 RPL5 RPS17 RPS19 RPS29 RPS7
2 Decreased viability GR00240-S-1 10.62 BORCS6 GATA1 RPL26 RPS20 RPS28 TP53
3 Decreased viability GR00249-S 10.62 GATA1 RPS20 RPS28 TP53 RPS17 RPS19
4 Decreased viability GR00381-A-1 10.62 RPS28 RPS19
5 Decreased viability GR00386-A-1 10.62 BORCS6 RPL26 RPS20 RPS28 RPL5 RPS17
6 Decreased viability GR00402-S-2 10.62 BORCS6 RPL26 RPS20 RPS28 TP53 RPL5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.21 RPS17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.21 RPS17
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.21 RPS29
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.21 RPS17
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.21 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.21 RPS17
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.21 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.21 RPS19
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.21 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 10.21 RPS29
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.21 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.21 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.21 RPS17
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.21 RPS17
21 FOXO1 nuclear localization GR00247-A-1 10.16 RPL11 RPS20 RPS24 RPS7
22 FOXO1 nuclear localization GR00247-A-2 10.16 RPL11 RPS20 RPS24 RPS7
23 Decreased Hepatitis C virus replication GR00180-A-1 9.95 RPS19 RPS20 RPS24 RPS26 RPS28 RPS29
24 Cytoplasmic 40S maturation defects GR00209-A-2 9.85 RPS10 RPS17 RPS20 RPS26 RPS29
25 Decreased cell number GR00303-A 9.73 RPL11 RPL5 RPS19 RPS29
26 HIV Rev nuclear localization GR00247-A-3 9.46 RPL11 RPS20 RPS24 RPS7
27 S arrest GR00098-A-2 9.17 RPL11 RPS19 RPS20 RPS24 RPS26 RPS29
28 Nuclear 60S biogenesis defects GR00209-A-3 9.13 RPL11 RPL26 RPL5

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925 29936
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
3 Liver Extracts Phase 4
4 Chelating Agents Phase 4
5 Iron Chelating Agents Phase 4
6
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704
7
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
8 Orange Approved Phase 3
9 Molgramostim Investigational Phase 2, Phase 3 99283-10-0
10 Adjuvants, Immunologic Phase 2, Phase 3
11 Antiviral Agents Phase 2, Phase 3
12
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Mycophenolic acid Approved Phase 2 24280-93-1 446541
15
Melphalan Approved Phase 2 148-82-3 4053 460612
16 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
17
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
18
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
19
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
20
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
21
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
22
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
23
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
24
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
25
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
26
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
27
Dopamine Approved Phase 1, Phase 2 51-61-6, 62-31-7 681
28
Trifluoperazine Approved, Investigational Phase 1, Phase 2 117-89-5 5566
29
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
30
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
31
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
32
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
33
Busulfan Approved, Investigational Phase 2 55-98-1 2478
34
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
35
alemtuzumab Approved, Investigational Phase 2 216503-57-0
36
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
37
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
38
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
39 Anti-Inflammatory Agents Phase 2
40 Hormones Phase 2
41 Hormone Antagonists Phase 2
42 glucocorticoids Phase 2
43 Gastrointestinal Agents Phase 2
44 Antiemetics Phase 2
45 Antifungal Agents Phase 2
46 Cyclosporins Phase 2
47 Anti-Infective Agents Phase 2
48 Dermatologic Agents Phase 2
49 Calcineurin Inhibitors Phase 2
50 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show all 43)
# 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 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
4 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
5 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
6 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
7 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
8 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
9 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
10 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
11 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
12 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
13 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
14 Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag Recruiting NCT04269889 Phase 1, Phase 2 Eltrombopag
15 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
16 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
17 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
18 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
19 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
20 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
21 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 2 rimiducid
22 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
23 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
24 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
25 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
26 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
27 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
28 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
29 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 Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
30 A Pilot Study of Lenalidomide in Adult Diamond-Blackfan Anemia Patients With Red Blood Cell Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
31 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
32 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
33 Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias Completed NCT01114776
34 Modulation of Iron Deposition in Sickle Cell Disease and Other Hemoglobinopathies SURVEY STUDY Completed NCT01913548
35 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
36 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
37 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
38 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
39 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
40 Combined Haploidentical Reduced Intensity Bone Marrow and Kidney Transplantation for Patients With Chronic Kidney Disease and Advanced Hematological Disorders Recruiting NCT01758042
41 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
42 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept
43 Transplantation of Umbilical Cord Blood From Related and Unrelated Donors Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

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.

Cochrane evidence based reviews: anemia, diamond-blackfan

Genetic Tests for Diamond-Blackfan Anemia

Genetic tests related to Diamond-Blackfan Anemia:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 29

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

40
Bone Marrow, Bone, Myeloid, Eye, T Cells, Kidney, Colon

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 675)
# Title Authors PMID Year
1
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 6 25 61 54
17517689 2007
2
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 25 54 6 61
17186470 2006
3
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 61 54 25 6
10590074 1999
4
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. 54 61 25 6
10598818 1999
5
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 6 25 61
24942156 2014
6
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 61 25 6
24829207 2014
7
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 25 6 61
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. 25 61 6
22431104 2012
9
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 25 6 61
20116044 2010
10
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 25 6 61
19061985 2008
11
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 61 6 25
18535205 2008
12
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. 6 25 61
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. 61 6 54
12586610 2003
14
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 6 25
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. 25 61 54
19773262 2010
17
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 61 6
19816270 2009
18
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. 25 54 61
17962699 2008
19
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. 61 25 54
17376718 2007
20
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. 6 61
17483715 2007
21
Impaired ribosome biogenesis in Diamond-Blackfan anemia. 25 54 61
17053056 2007
22
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. 61 54 25
16990592 2007
23
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. 54 25 61
16159874 2005
24
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 61 54 25
12750732 2003
25
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. 61 54 25
12351378 2002
26
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 6 61
11424144 2001
27
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 54 61 25
11112378 2000
28
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. 20 61
29081386 2018
29
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 25 61
27909223 2017
30
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 61 25
25946618 2015
31
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. 61 25
25132370 2014
32
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 25 61
25042156 2014
33
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 25 61
24453067 2014
34
Altered translation of GATA1 in Diamond-Blackfan anemia. 61 25
24952648 2014
35
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. 61 25
24675553 2014
36
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 6
23718193 2013
37
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 61 25
22689679 2012
38
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 25 61
22706301 2012
39
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. 61 25
22362038 2012
40
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 61 25
22262766 2012
41
Ribosomal protein gene deletions in Diamond-Blackfan anemia. 25 61
22045982 2011
42
How I treat Diamond-Blackfan anemia. 61 25
20651069 2010
43
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. 61 25
20378560 2010
44
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. 25 61
19953637 2010
45
Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. 25 61
19915471 2010
46
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. 61 25
19191325 2009
47
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. 25 61
18515656 2008
48
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. 61 25
18230666 2008
49
Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia. 25 61
17344464 2007
50
Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 61 25
18024606 2007

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6 (show top 50) (show all 458)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIPK1A NM_000969.5(RPL5):c.189+267G>C SNV association 869112 rs138979590 1:93299484-93299484 1:92833927-92833927
2 GATA1 NM_002049.4(GATA1):c.98dup (p.Phe34fs) Duplication Pathogenic 862155 X:48649610-48649611 X:48791203-48791204
3 RPL11 NM_000975.5(RPL11):c.160dup (p.Arg54fs) Duplication Pathogenic 856991 1:24020298-24020299 1:23693808-23693809
4 RPS19 NM_001022.4(RPS19):c.13dup (p.Thr5fs) Duplication Pathogenic 858368 19:42364856-42364857 19:41860786-41860787
5 RPS19 NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) SNV Pathogenic 6314 rs104894711 19:42373112-42373112 19:41869042-41869042
6 RPS19 NM_001022.4(RPS19):c.3G>A (p.Met1Ile) SNV Pathogenic 860401 19:42364847-42364847 19:41860777-41860777
7 IQCG NM_000996.4(RPL35A):c.258del (p.Lys87fs) Deletion Pathogenic 807674 rs1581106084 3:197680966-197680966 3:197954095-197954095
8 RPS24 NC_000010.11:g.(?_78033902)_(78033914_?)del Deletion Pathogenic 831866 10:79793660-79793672
9 RPL11 NC_000001.11:g.(?_23691824)_(23696373_?)del Deletion Pathogenic 832897 1:24018314-24022863
10 DIPK1A NM_000969.5(RPL5):c.9_12del (p.Phe3fs) Deletion Pathogenic 842399 1:93298948-93298951 1:92833391-92833394
11 DIPK1A NM_000969.5(RPL5):c.15dup (p.Val6fs) Duplication Pathogenic 851814 1:93298954-93298955 1:92833397-92833398
12 RPS19 NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) SNV Pathogenic 940523 19:42365208-42365208 19:41861139-41861139
13 RPS19 NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) Deletion Pathogenic 940580 19:42364860-42364860 19:41860790-41860790
14 RPS26 NM_001029.5(RPS26):c.181+1del Deletion Pathogenic 929406 12:56436386-56436386 12:56042602-56042602
15 RPS26 NM_001029.5(RPS26):c.2T>G (p.Met1Arg) SNV Pathogenic 933891 12:56435952-56435952 12:56042168-56042168
16 RPS26 NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) SNV Pathogenic 934123 12:56437161-56437161 12:56043377-56043377
17 GATA1 NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) SNV Pathogenic 945515 X:48649565-48649565 X:48791158-48791158
18 RPL11 NM_000975.5(RPL11):c.158-1G>A SNV Pathogenic 5754 rs151155897 1:24020296-24020296 1:23693806-23693806
19 GATA1 NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) SNV Pathogenic 952388 X:48649551-48649551 X:48791144-48791144
20 RPS19 NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) SNV Pathogenic 6315 rs104894716 19:42365207-42365207 19:41861138-41861138
21 DIPK1A NM_000969.5(RPL5):c.634dup (p.Met212fs) Duplication Pathogenic 965003 1:93303117-93303118 1:92837560-92837561
22 DIPK1A NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) SNV Pathogenic 6179 rs121434405 1:93299009-93299009 1:92833452-92833452
23 RPS7 NM_001011.4(RPS7):c.-19+1G>A SNV Pathogenic 975849 2:3622941-3622941 2:3575351-3575351
24 BTBD8 GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1 copy number loss Pathogenic 981207 1:92405898-94018197
25 DIPK1A NM_000969.5(RPL5):c.268del (p.Val90fs) Deletion Pathogenic 930202 1:93300413-93300413 1:92834856-92834856
26 RPS20 NM_001023.4(RPS20):c.251T>G (p.Ile84Ser) SNV Pathogenic 981187 8:56985758-56985758 8:56073199-56073199
27 RPS20 NM_001023.4(RPS20):c.251T>A (p.Ile84Asn) SNV Pathogenic 981188 8:56985758-56985758 8:56073199-56073199
28 RPS19 NM_001022.4(RPS19):c.43G>T (p.Val15Phe) SNV Pathogenic 6319 rs104894717 19:42364887-42364887 19:41860817-41860817
29 RPL11 NM_000975.5(RPL11):c.465_466del (p.His155fs) Microsatellite Pathogenic 992969 1:24022353-24022354 1:23695863-23695864
30 RPS19 NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs) Indel Pathogenic 977494 19:42373223-42373224 19:41869153-41869154
31 RPS19 NM_001022.4(RPS19):c.257dup (p.Val87fs) Duplication Pathogenic 950789 19:42373183-42373184 19:41869113-41869114
32 RPS28 NM_001031.5(RPS28):c.1A>G (p.Met1Val) SNV Pathogenic 187848 rs786203997 19:8386415-8386415 19:8321531-8321531
33 DIPK1A NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) Microsatellite Pathogenic 662012 rs1571024430 1:93299200-93299201 1:92833643-92833644
34 DIPK1A NM_000969.5(RPL5):c.235dup (p.Tyr79fs) Duplication Pathogenic 6182 rs1571026775 1:93300380-93300381 1:92834823-92834824
35 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 Indel Pathogenic 6183
36 DIPK1A NM_000969.5(RPL5):c.73+2T>G SNV Pathogenic 6184 rs142156224 1:93299017-93299017 1:92833460-92833460
37 RPS10-NUDT3 NM_001014.5(RPS10):c.3G>A (p.Met1Ile) SNV Pathogenic 6185 rs267607021 6:34392996-34392996 6:34425219-34425219
38 RPS10-NUDT3 NM_001014.5(RPS10):c.260dup (p.Glu88fs) Duplication Pathogenic 6186 rs1581931541 6:34392507-34392508 6:34424730-34424731
39 RPS10-NUDT3 NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) SNV Pathogenic 6187 rs267607022 6:34389570-34389570 6:34421793-34421793
40 RPS24 NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) SNV Pathogenic 7245 rs104894188 10:79796988-79796988 10:78037230-78037230
41 RPS24 NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) SNV Pathogenic 7246 rs104894189 10:79795152-79795152 10:78035394-78035394
42 RPS24 NM_001026.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) Indel Pathogenic 7247 rs116840806 10:79795110-79795112 10:78035352-78035354
43 RPS17 NM_001021.6(RPS17):c.2T>G (p.Met1Arg) SNV Pathogenic 12999 rs116840811 15:82824835-82824835 15:82540427-82540427
44 RPS17 NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) Microsatellite Pathogenic 13000 rs116840812 15:82823347-82823348 15:82538939-82538940
45 IQCG NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) SNV Pathogenic 13001 rs116840808 3:197678115-197678115 3:197951244-197951244
46 IQCG NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) Microsatellite Pathogenic 13002 rs116840807 3:197678096-197678098 3:197951225-197951227
47 IQCG NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) SNV Pathogenic 13003 rs116840809 3:197681013-197681013 3:197954142-197954142
48 RPL26 NM_000987.5(RPL26):c.120_121del (p.Lys41fs) Deletion Pathogenic 39740 rs397518451 17:8285508-8285509 17:8382190-8382191
49 RPS19 NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) SNV Pathogenic 6313 rs61762293 19:42373208-42373208 19:41869138-41869138
50 RPS19 NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) SNV Pathogenic 6314 rs104894711 19:42373112-42373112 19:41869042-41869042

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

Expression for Diamond-Blackfan Anemia

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

Pathways for Diamond-Blackfan Anemia

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
Show member pathways
13.89 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
2
Show member pathways
13.62 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
3
Show member pathways
13.57 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
4
Show member pathways
13.55 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
5
Show member pathways
13.49 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
6
Show member pathways
12.54 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
7
Show member pathways
12.19 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
8
Show member pathways
12.05 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
9 11.38 TP53 RPL5 RPL11

GO Terms for Diamond-Blackfan Anemia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.25 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
2 cytosol GO:0005829 10.22 TP53 RPS7 RPS29 RPS28 RPS26 RPS24
3 extracellular exosome GO:0070062 10.15 RPS29 RPS28 RPS26 RPS20 RPS19 RPL5
4 nucleolus GO:0005730 10.07 TP53 RPS7 RPS19 RPS10 RPL5 RPL26
5 endoplasmic reticulum GO:0005783 10.06 TP53 RPS29 RPS28 RPS26 RPS24 RPL5
6 focal adhesion GO:0005925 9.91 RPS7 RPS29 RPS19 RPS17 RPS10 RPL5
7 ribonucleoprotein complex GO:1990904 9.71 RPS7 RPL5 RPL26
8 rough endoplasmic reticulum GO:0005791 9.69 RPS29 RPS28 RPS26
9 cytosolic large ribosomal subunit GO:0022625 9.65 RPL5 RPL26 RPL11
10 cytosolic small ribosomal subunit GO:0022627 9.61 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
11 polysomal ribosome GO:0042788 9.56 RPS29 RPS28 RPS26 RPL11
12 small ribosomal subunit GO:0015935 9.55 RPS29 RPS28 RPS26 RPS24 RPS20
13 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.54 RPS29 RPS28 RPS26
14 ribosome GO:0005840 9.44 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20

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 10.1 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
2 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.03 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
3 rRNA processing GO:0006364 10.02 TSR2 RPS7 RPS28 RPS24 RPS19 RPS17
4 translational initiation GO:0006413 9.93 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
5 protein stabilization GO:0050821 9.85 TP53 RPS7 RPL5 RPL11
6 cytoplasmic translation GO:0002181 9.83 RPS29 RPS28 RPS26 RPL26 RPL11
7 ribosomal small subunit biogenesis GO:0042274 9.8 RPS7 RPS28 RPS24 RPS19 RPS17
8 regulation of signal transduction by p53 class mediator GO:1901796 9.75 TP53 RPL5 RPL11
9 translation GO:0006412 9.73 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
10 ribosomal large subunit biogenesis GO:0042273 9.69 RPL5 RPL26 RPL11
11 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.67 RPS7 RPL5 RPL11
12 ribosomal small subunit assembly GO:0000028 9.65 RPS28 RPS19 RPS10
13 negative regulation of ubiquitin protein ligase activity GO:1904667 9.63 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 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.52 RPS7 RPL11
20 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.4 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20

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 9.73 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
2 mRNA 5'-UTR binding GO:0048027 9.43 RPS7 RPL5 RPL26
3 structural constituent of ribosome GO:0003735 9.4 RPS7 RPS29 RPS28 RPS26 RPS24 RPS20
4 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPS7 RPL5 RPL11
5 5S rRNA binding GO:0008097 9.32 RPL5 RPL11

Sources for Diamond-Blackfan Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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