BDA
MCID: DMN001
MIFTS: 74

Diamond-Blackfan Anemia (BDA)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diamond-Blackfan Anemia

MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 11 24 19 42 58 75 28 53 5 14 36
Congenital Pure Red Cell Aplasia 19 42 58 53 33
Erythrogenesis Imperfecta 19 42 71 33
Anemia, Diamond-Blackfan 75 43 38 71
Aase Syndrome 19 42 58 71
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 19 58
Congenital Hypoplastic Anemia 19 71
Blackfan-Diamond Anemia 19 58
Aase-Smith Ii Syndrome 19 58
Congenital Prca 19 58
Dba 19 42
Bds 19 42
Congenital Hypoplastic Anemia of Blackfan and Diamond 42
Chronic Constitutional Pure Red Cell Anaemia 11
Anemia Congenital Erythroid Hypoplastic 19
Aregenerative Anemia Chronic Congenital 19
Congenital Erythroid Hypoplastic Anemia 42
Chronic Congenital Agenerative Anemia 42
Congenital Red Cell Aplastic Anaemia 33
Red Cell Aplasia, Pure Hereditary 19
Pearson Marrow-Pancreas Syndrome 33
Pure Hereditary Red Cell Aplasia 42
Pure Red Cell Aplasia of Infants 33
Congenital Pure Red Cell Anaemia 33
Congenital Pure Red Cell Anemia 42
Anemia, Hypoplastic, Congenital 75
Congenital Erythroid Hypoplasia 33
Constitutional Aplastic Anemia 71
Hypoplastic Congenital Anemia 42
Anemia Hypoplastic Congenital 53
Anemia Diamond Blackfan Type 19
Inherited Erythroblastopenia 42
Blackfan - Diamond Syndrome 11
Congenital Red Cell Aplasia 33
Red Cell Aplasia of Infants 33
Diamond-Blackfan Anemia 1 71
Blackfan-Diamond Syndrome 42
Blackfan Diamond Syndrome 19
Blackfan-Diamond Disease 42
Blackfan Diamond Anemia 42
Aase-Smith Syndrome Ii 42
Aase Smith Syndrome 2 71
Fanconi Anemia 71
Bda 42

Characteristics:


Inheritance:

Blackfan-Diamond Anemia: Autosomal dominant 58

Prevelance:

Blackfan-Diamond Anemia: 1-9/1000000 (Europe, United Kingdom, Italy, United States, China) 58

Age Of Onset:

Blackfan-Diamond Anemia: Childhood,Infancy,Neonatal 58

GeneReviews:

24
Penetrance Penetrance is almost complete with loss-of-function variants in rpl5, rps19, and rps26. penetrance is high with loss-of-function variants in other genes that encode ribosomal subunits. missense variants (e.g., of rps19) appear to be less penetrant [ulirsch et al 2018].

Classifications:

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


Summaries for Diamond-Blackfan Anemia

MedlinePlus Genetics: 42 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 11. An important gene associated with Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. The drugs Deferasirox and Iron Chelating Agents 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

GARD: 19 Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. In some cases there is also short stature. Diamond-Blackfan anemia is caused by genetic changes 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. Patients with genetic changes in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with genetic changes in the RPL11 gene have thumb anomalies more frequently than people with the other types. Genetic changes 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. The severity of the disease is very varied.

Disease Ontology: 11 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.

Orphanet: 58 Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Wikipedia 75 Anemia, diamond-blackfan: Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA... more...

Anemia, hypoplastic, congenital: Congenital hypoplastic anemia is a type of aplastic anemia which is primarily due to a congenital... 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 Diamond-Blackfan Anemia 21

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

(show top 50) (show all 288)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 34.3 TP53 RPS7 RPS26 RPS24 RPS20 RPS19
2 diamond-blackfan anemia 11 33.8 TP53 RPL26 GATA1
3 diamond-blackfan anemia 9 33.8 RPS10-NUDT3 RPS10
4 diamond-blackfan anemia 15 with mandibulofacial dysostosis 33.7 TSR2 RPS26
5 diamond-blackfan anemia 10 33.7 TSR2 RPS26
6 diamond-blackfan anemia 5 33.6 RPL35A IQCG
7 diamond-blackfan anemia 6 33.5 RPL5 DIPK1A
8 deficiency anemia 32.8 TP53 RPS26 RPS19 RPL11 GATA1
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 32.8 RPS19 RPL15 GATA1
10 macrocytic anemia 32.6 TSR2 RPS29 RPS26 RPS24 RPS19 RPS17
11 aplastic anemia 32.5 TSR2 TP53 RPS26 RPS24 RPS19 RPS17
12 pure red-cell aplasia 32.3 RPS26 RPS24 RPS19 RPS17 RPL5 RPL35A
13 shwachman-diamond syndrome 1 31.8 TSR2 TP53 RPS29 RPS26 RPS24 RPS20
14 dyskeratosis congenita 31.6 TSR2 TP53 RPS29 RPS26 RPS24 RPS20
15 treacher collins syndrome 1 31.5 RPS24 RPS19 RPL5 RPL35A RPL11
16 interatrial communication 31.0 RPL5 DIPK1A
17 cartilage-hair hypoplasia 31.0 RPS24 RPS19 RPL5 RPL11
18 pierre robin syndrome 31.0 RPL26 RPL15 RPL11
19 diamond-blackfan anemia 7 12.1
20 diamond-blackfan anemia 4 12.1
21 diamond-blackfan anemia 8 12.1
22 diamond-blackfan anemia 3 12.0
23 diamond-blackfan anemia 12 12.0
24 diamond-blackfan anemia 13 12.0
25 diamond-blackfan anemia 20 12.0
26 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.0
27 diamond-blackfan anemia 18 12.0
28 diamond-blackfan anemia 19 12.0
29 diamond-blackfan anemia 16 11.9
30 diamond-blackfan anemia 17 11.9
31 diamond-blackfan anemia 2 11.9
32 diamond-blackfan anemia 21 11.8
33 diamond-blackfan anemia-like 11.7
34 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.3
35 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
36 aase-smith syndrome i 11.2
37 facio skeletal genital syndrome rippberger type 11.1
38 inherited bone marrow failure syndromes 10.9
39 myelodysplastic syndrome 10.7
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.7
41 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
42 osteogenic sarcoma 10.6
43 graft-versus-host disease 10.6
44 orofacial cleft 10.6 RPS19 RPS17 RPL5 RPL35A RPL11
45 hydrops fetalis, nonimmune 10.6
46 chromosome 5q deletion syndrome 10.5
47 cleft palate, isolated 10.5
48 dyskeratosis congenita, x-linked 10.5 RPS19 RPL5 RPL11
49 bowen-conradi syndrome 10.5 RPS19 RPL5 RPL11
50 neutropenia 10.5

Comorbidity relations with Diamond-Blackfan Anemia via Phenotypic Disease Network (PDN):


Deficiency Anemia Heart Disease

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

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

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.69 RPL5 RPS17 RPS19 RPS29 RPS7
2 Decreased viability GR00240-S-1 10.69 GATA1 RPL15 RPL26 RPS20 TP53
3 Decreased viability GR00249-S 10.69 GATA1 RPS20 TP53 RPS17 RPS19 RPS29
4 Decreased viability GR00381-A-1 10.69 RPL15 RPS19
5 Decreased viability GR00386-A-1 10.69 RPL15 RPL26 RPS20 RPL5 RPS17 RPS19
6 Decreased viability GR00402-S-2 10.69 RPL15 RPL26 RPS20 TP53 RPL5 RPS17
7 FOXO1 nuclear localization GR00247-A-1 10.32 RPL11 RPL15 RPS20 RPS24 RPS7
8 FOXO1 nuclear localization GR00247-A-2 10.32 RPL11 RPL15 RPS20 RPS24 RPS7
9 S arrest GR00098-A-2 10.06 RPL11 RPL35A RPS19 RPS20 RPS24 RPS26
10 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.74 RPS19
11 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.74 RPS29
12 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.74 RPS29
13 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.74 RPS17 RPS19 RPS29
14 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.74 RPS29
15 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.74 RPS29
16 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.74 RPS19
17 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.74 RPS29
18 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.74 RPS19 RPS29
19 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.74 RPS19
20 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.74 RPS19 RPS29
21 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.74 RPS29
22 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.74 RPS29
23 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.74 RPS19
24 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.74 RPS17
25 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.74 RPS17 RPS19
26 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.74 RPS17
27 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.74 RPS17
28 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.74 RPS17
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 RPS29
30 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.74 RPS17
31 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.7 RPL11 RPL15 RPL35A RPS17 RPS19 RPS26
32 Nuclear 60S biogenesis defects GR00209-A-3 9.67 RPL11 RPL26 RPL35A RPL5
33 HIV Rev nuclear localization GR00247-A-3 9.65 RPL11 RPL15 RPS20 RPS24 RPS7
34 Decreased cell number GR00303-A 9.26 RPL11 RPL5 RPS19 RPS29
35 Nuclear 40S maturation defects GR00209-A-2 9.1 RPL11

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
2 Iron Chelating Agents Phase 4
3 Chelating Agents Phase 4
4
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
5
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
6
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
7
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
8
Mycophenolic acid Approved, Investigational Phase 2, Phase 3 24280-93-1 446541
9
Fludarabine Approved Phase 2, Phase 3 75607-67-9, 21679-14-1 30751 657237
10
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704
11
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
12 Orange Approved Phase 3
13
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
14 Antirheumatic Agents Phase 2, Phase 3
15 Antifungal Agents Phase 2, Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3
17 Antitubercular Agents Phase 2, Phase 3
18 Antibiotics, Antitubercular Phase 2, Phase 3
19
Plerixafor Approved Phase 1, Phase 2 110078-46-1 65015
20
Iron Approved Phase 2 7439-89-6 29936
21
Melphalan Approved Phase 2 148-82-3 4053 460612
22
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
23
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
24
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
25
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
26
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
27
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
28
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
29
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
30
Sargramostim Approved, Investigational Phase 2 123774-72-1
31
Rituximab Approved Phase 1, Phase 2 174722-31-7
32
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
33
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
34
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
36
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
37
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
38
Olaparib Approved Phase 2 763113-22-0 23725625
39
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
40
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
41
Trifluoperazine Approved, Investigational Phase 1, Phase 2 440-17-5, 117-89-5 5566
42
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
43
Lenograstim Approved, Investigational Phase 2 135968-09-1
44
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
45
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
47
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
48
Molgramostim Investigational Phase 2 99283-10-0
49
Daclizumab Investigational, Withdrawn Phase 2 152923-56-3
50 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 112)
# 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 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
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 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
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 Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation Completed NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
7 Therapeutic Use of the Amino Acid Leucine in the Treatment of Transfusion-Dependent Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
8 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
9 Clinical Trial Phase I / II to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34 + Cells Transduced With a Lentiviral Vector Carrying the Gene FANCA in Patients With FA Subtype A (FANCOLEN-1) Unknown status NCT03157804 Phase 1, Phase 2 Plerixafor
10 Investigation of G-CSF-Induced Stem Cell Mobilization Potential in Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
11 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
12 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
13 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 Completed NCT01362595 Phase 1, Phase 2 leucine
14 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
15 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
16 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
17 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
18 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
19 Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study Completed NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
20 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
21 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Completed NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
22 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Completed NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
23 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Completed NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
24 Pilot Study of Metformin for Patients With Fanconi Anemia Completed NCT03398824 Phase 2 metformin HCl
25 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
26 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
27 Clinical Phase II Trial to Evaluate Efficacy and Safety of CD34+ Cells Mobilization and Collection After Treatment With Plerixafor and Filgrastim in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene and Reinfusion in the Patient Completed NCT02931071 Phase 2 filgrastim;plerixafor
28 Non-Myeloablative Allogeneic Hematopoietic Peripheral Blood Stem Cell Transplantation for Hematologic Malignancies and Disorders Completed NCT00053989 Phase 2 cyclophosphamide;fludarabine phosphate;methylprednisolone;mycophenolate mofetil;tacrolimus
29 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
30 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
31 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
32 Allogeneic Stem Cell Transplantation for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion - NYMC 588 Recruiting NCT04099966 Phase 2 alpha beta depletion
33 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
34 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate
35 TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia Recruiting NCT04784052 Phase 1, Phase 2 JSP191;Cyclophosphamide;Fludarabine;Rituximab
36 A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
37 A Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT04248439 Phase 2
38 Immunotherapy in Combination With PARP Inhibition in Advanced Cervical Cancer Patients Functionally Competent or Deficient for the Fanconi Anemia Repair Pathway Recruiting NCT04483544 Phase 2 pembrolizumab;olaparib
39 A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients With Fanconi Anemia Subtype A Recruiting NCT04069533 Phase 2
40 T Cell Receptor Alpha/Beta T Cell Depleted (α/β TCD) Hematopoietic Cell Transplantation in Patients With Fanconi Anemia (FA) Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2);Rituximab;Busulfan
41 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
42 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
43 A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations Recruiting NCT04042831 Phase 2 Olaparib
44 Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag Active, not recruiting NCT04269889 Phase 1, Phase 2 Eltrombopag
45 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 Active, not recruiting NCT03733249 Phase 1, Phase 2 Rimiducid
46 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
47 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
48 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 Active, not recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
49 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
50 A Multinational, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Activity of FP 045 in Patients With Fanconi Anemia Not yet recruiting NCT04522375 Phase 1, Phase 2 FP-045

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 28

Anatomical Context for Diamond-Blackfan Anemia

Organs/tissues related to Diamond-Blackfan Anemia:

MalaCards : Bone Marrow, Bone, Myeloid, Pancreas, Kidney, Heart, Eye

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 958)
# Title Authors PMID Year
1
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 53 62 24 5
19773262 2010
2
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. 53 62 24 5
17376718 2007
3
Impaired ribosome biogenesis in Diamond-Blackfan anemia. 53 62 24 5
17053056 2007
4
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. 53 62 24 5
16159874 2005
5
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 53 62 24 5
11112378 2000
6
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 53 62 24 5
10590074 1999
7
The Genetic Landscape of Diamond-Blackfan Anemia. 62 24 5
30503522 2018
8
Altered translation of GATA1 in Diamond-Blackfan anemia. 62 24 5
24952648 2014
9
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. 62 24 5
22689679 2012
10
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. 62 24 5
22431104 2012
11
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 62 24 5
22262766 2012
12
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. 62 24 5
19191325 2009
13
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 62 24 5
19061985 2008
14
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. 62 24 5
10753603 2000
15
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. 53 62 5
20395159 2010
16
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. 53 62 5
19689926 2009
17
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia. 53 62 5
18768533 2008
18
RPS19 mutations in patients with Diamond-Blackfan anemia. 53 62 5
18412286 2008
19
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 53 62 5
17517689 2007
20
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 53 62 5
17186470 2006
21
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. 53 62 5
15523650 2004
22
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. 24 5
15059149 2004
23
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 53 62 5
12750732 2003
24
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. 62 5
32790018 2020
25
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. 62 5
29766597 2018
26
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. 62 5
27882484 2017
27
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. 62 5
27329125 2016
28
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 62 5
25946618 2015
29
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. 62 5
26185635 2015
30
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. 62 5
25132370 2014
31
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. 62 5
25042156 2014
32
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 62 5
24942156 2014
33
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 62 5
24453067 2014
34
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. 62 5
24675553 2014
35
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. 62 5
23744582 2013
36
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. 62 5
23349008 2013
37
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 62 5
22706301 2012
38
Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea. 62 5
22783360 2012
39
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. 62 5
22381658 2012
40
Ribosomal protein gene deletions in Diamond-Blackfan anemia. 62 5
22045982 2011
41
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. 62 5
20960466 2010
42
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. 62 5
20606162 2010
43
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. 62 5
20378560 2010
44
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients]. 62 5
20603584 2010
45
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. 62 5
19953637 2010
46
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 62 5
20116044 2010
47
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 62 5
19816270 2009
48
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. 53 62 24
17962699 2008
49
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. 62 5
17647292 2007
50
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. 53 62 24
16990592 2007

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

5 (show top 50) (show all 643)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL11 NM_000975.5(RPL11):c.508-2A>G SNV Pathogenic
639774 rs1570569383 GRCh37: 1:24022832-24022832
GRCh38: 1:23696342-23696342
2 RPL11 NC_000001.11:g.(?_23695788)_(23696383_?)del DEL Pathogenic
642046 GRCh37: 1:24022278-24022873
GRCh38: 1:23695788-23696383
3 RPL11 NM_000975.5(RPL11):c.62_63del (p.Cys21fs) DEL Pathogenic
643018 rs1570566592 GRCh37: 1:24019153-24019154
GRCh38: 1:23692663-23692664
4 RPS19 NC_000019.9:g.(?_42373091)_(42375455_?)del DEL Pathogenic
650720 GRCh37: 19:42373091-42375455
GRCh38:
5 RPS10-NUDT3, RPS10 NM_001014.5(RPS10):c.285_292del (p.Arg96fs) DEL Pathogenic
653431 rs1581931439 GRCh37: 6:34392476-34392483
GRCh38: 6:34424699-34424706
6 RPS24 NM_033022.4(RPS24):c.13_14del (p.Val5fs) DEL Pathogenic
662877 rs1589326484 GRCh37: 10:79795119-79795120
GRCh38: 10:78035361-78035362
7 RPL11 NC_000001.11:g.(?_23691824)_(23696373_?)del DEL Pathogenic
832897 GRCh37: 1:24018314-24022863
GRCh38:
8 RPS19 NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) MICROSAT Pathogenic
463373 rs1555841356 GRCh37: 19:42373220-42373221
GRCh38: 19:41869150-41869151
9 RPL11 NM_000975.5(RPL11):c.111del (p.Lys38fs) DEL Pathogenic
532180 rs1553121684 GRCh37: 1:24019202-24019202
GRCh38: 1:23692712-23692712
10 RPL11 NC_000001.11:g.(?_23691814)_(23696383_?)del DEL Pathogenic
583762 GRCh37: 1:24018304-24022873
GRCh38: 1:23691814-23696383
11 RPS24 NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) SNV Pathogenic
7246 rs104894189 GRCh37: 10:79795152-79795152
GRCh38: 10:78035394-78035394
12 RPL5 and overlap with 1 gene(s) NC_000001.11:g.(?_92832109)_(92833666_?)del DEL Pathogenic
532183 GRCh37: 1:93297666-93299223
GRCh38: 1:92832109-92833666
13 RPL11 NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) SNV Pathogenic
5751 rs121434389 GRCh37: 1:24020362-24020362
GRCh38: 1:23693872-23693872
14 RPS19 NM_001022.4(RPS19):c.384_385del (p.Asp130fs) DEL Pathogenic
580015 rs869066130 GRCh37: 19:42373795-42373796
GRCh38: 19:41869725-41869726
15 RPS19 NM_001022.4(RPS19):c.173-2A>G SNV Pathogenic
644396 rs111833764 GRCh37: 19:42373099-42373099
GRCh38: 19:41869029-41869029
16 overlap with 8 genes NC_000017.10:g.(?_8136214)_(8285628_?)del DEL Pathogenic
1460382 GRCh37: 17:8136214-8285628
GRCh38:
17 RPL11 NM_000975.5(RPL11):c.151dup (p.Ser51fs) DUP Pathogenic
1363160 GRCh37: 1:24019239-24019240
GRCh38: 1:23692749-23692750
18 RPL11 NM_000975.5(RPL11):c.107del (p.Ala36fs) DEL Pathogenic
1074653 GRCh37: 1:24019199-24019199
GRCh38: 1:23692709-23692709
19 RPL5 and overlap with 2 gene(s) NC_000001.10:g.(?_93297672)_(93307422_?)del DEL Pathogenic
1073746 GRCh37: 1:93297672-93307422
GRCh38:
20 RPS19 NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) DUP Pathogenic
1072173 GRCh37: 19:42364901-42364902
GRCh38: 19:41860831-41860832
21 RPL11 NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) SNV Pathogenic
1069986 GRCh37: 1:24019213-24019213
GRCh38: 1:23692723-23692723
22 RPL5 NM_000969.5(RPL5):c.1A>C (p.Met1Leu) SNV Pathogenic
1069070 GRCh37: 1:93297672-93297672
GRCh38: 1:92832115-92832115
23 RPS10-NUDT3, RPS10 NM_001014.5(RPS10):c.1A>G (p.Met1Val) SNV Pathogenic
1069428 GRCh37: 6:34392998-34392998
GRCh38: 6:34425221-34425221
24 RPS19 NM_001022.4(RPS19):c.185G>C (p.Arg62Pro) SNV Pathogenic
1071332 GRCh37: 19:42373113-42373113
GRCh38: 19:41869043-41869043
25 RPS19 NC_000019.9:g.(?_42363988)_(42375445_?)del DEL Pathogenic
1459369 GRCh37: 19:42363988-42375445
GRCh38:
26 RPS19 NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) SNV Pathogenic
1006194 rs2074021310 GRCh37: 19:42364897-42364897
GRCh38: 19:41860827-41860827
27 RPS20 NM_001023.4(RPS20):c.251T>A (p.Ile84Asn) SNV Pathogenic
981188 rs1809815205 GRCh37: 8:56985758-56985758
GRCh38: 8:56073199-56073199
28 RPS20 NM_001023.4(RPS20):c.251T>G (p.Ile84Ser) SNV Pathogenic
981187 rs1809815205 GRCh37: 8:56985758-56985758
GRCh38: 8:56073199-56073199
29 RPS24 NC_000010.11:g.(?_78033902)_(78033914_?)del DEL Pathogenic
831866 GRCh37: 10:79793660-79793672
GRCh38:
30 RPL11 NM_000975.5(RPL11):c.160dup (p.Arg54fs) DUP Pathogenic
856991 rs1644516691 GRCh37: 1:24020298-24020299
GRCh38: 1:23693808-23693809
31 RPL11 NM_000975.5(RPL11):c.158-1G>A SNV Pathogenic
5754 rs151155897 GRCh37: 1:24020296-24020296
GRCh38: 1:23693806-23693806
32 RPS19 NM_001022.4(RPS19):c.257dup (p.Val87fs) DUP Pathogenic
950789 rs2074118749 GRCh37: 19:42373183-42373184
GRCh38: 19:41869113-41869114
33 RPS19 NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) SNV Pathogenic
6315 rs104894716 GRCh37: 19:42365207-42365207
GRCh38: 19:41861138-41861138
34 RPS19 NM_001022.4(RPS19):c.173-1G>T SNV Pathogenic
1369946 GRCh37: 19:42373100-42373100
GRCh38: 19:41869030-41869030
35 RPS19 NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) SNV Pathogenic
940523 rs2074026880 GRCh37: 19:42365208-42365208
GRCh38: 19:41861139-41861139
36 RPS19 NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) DEL Pathogenic
940580 rs2074020491 GRCh37: 19:42364860-42364860
GRCh38: 19:41860790-41860790
37 GATA1 NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs) DUP Pathogenic
647140 rs1602219139 GRCh37: X:48649679-48649680
GRCh38: X:48791272-48791273
38 GATA1 NM_002049.4(GATA1):c.5_8dup (p.Phe3fs) DUP Pathogenic
660513 rs1602218917 GRCh37: X:48649520-48649521
GRCh38: X:48791113-48791114
39 GATA1 NM_002049.4(GATA1):c.98dup (p.Phe34fs) DUP Pathogenic
862155 rs2062673787 GRCh37: X:48649610-48649611
GRCh38: X:48791203-48791204
40 GATA1 NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) SNV Pathogenic
945515 rs2062673523 GRCh37: X:48649565-48649565
GRCh38: X:48791158-48791158
41 GATA1 NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) SNV Pathogenic
952388 rs2062673416 GRCh37: X:48649551-48649551
GRCh38: X:48791144-48791144
42 GATA1 NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) MICROSAT Pathogenic
1068556 GRCh37: X:48650258-48650259
GRCh38: X:48791851-48791852
43 GATA1 NM_002049.4(GATA1):c.3G>T (p.Met1Ile) SNV Pathogenic
1068653 GRCh37: X:48649519-48649519
GRCh38: X:48791112-48791112
44 GATA1 NM_002049.4(GATA1):c.90_91del (p.Val32fs) DEL Pathogenic
1068951 GRCh37: X:48649606-48649607
GRCh38: X:48791199-48791200
45 GATA1 NM_002049.4(GATA1):c.105dup (p.Ser36fs) DUP Pathogenic
1068952 GRCh37: X:48649617-48649618
GRCh38: X:48791210-48791211
46 GATA1 NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) INSERT Pathogenic
1070439 GRCh37: X:48649672-48649673
GRCh38: X:48791265-48791266
47 GATA1 NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) DUP Pathogenic
10429 rs398124628 GRCh37: X:48649667-48649668
GRCh38: X:48791260-48791261
48 GATA1 NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs) INSERT Pathogenic
1428144 GRCh37: X:48649687-48649688
GRCh38: X:48791280-48791281
49 GATA1 NM_002049.4(GATA1):c.192_196del (p.Arg64fs) DEL Pathogenic
1414934 GRCh37: X:48649707-48649711
GRCh38: X:48791300-48791304
50 HEATR3 NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) SNV Pathogenic
1321318 GRCh37: 16:50118526-50118526
GRCh38: 16:50084615-50084615

Copy number variations for Diamond-Blackfan Anemia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 37614 1 93070181 93080069 Deleted RPL5 Diamond-Blackfan anemia
2 95791 15 80608215 81006263 Deleted RPS17 Diamond-Blackfan anemia
3 174085 3 199161448 199167118 Deleted RPL35A Diamond-Blackfan anemia
4 29995 1 23890880 23895502 Deleted RPL11 Diamond-Blackfan anemia
5 130016 19 47055827 47067324 Deleted RPS19 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 GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 TP53 RPS7 RPS29 RPS26 RPS24 RPS20
2
Show member pathways
13.79 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3
Show member pathways
13.73 TP53 RPS7 RPS29 RPS26 RPS24 RPS20
4
Show member pathways
13.69 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5
Show member pathways
13.65 RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
6
Show member pathways
13.37 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7
Show member pathways
13.37 TP53 RPS7 RPS29 RPS26 RPS24 RPS20
8
Show member pathways
13.16 RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
9
Show member pathways
12.85 RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
10
Show member pathways
12.5 RPS10 RPS17 RPS19 RPS20 RPS24 RPS26
11
Show member pathways
12.37 RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
12
Show member pathways
12.25 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
13
Show member pathways
12.24 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
14
Show member pathways
11.8 RPS10 RPS17 RPS19 RPS20 RPS24 RPS26
15 11.42 TP53 RPL5 RPL11

GO Terms for Diamond-Blackfan Anemia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.69 IQCG RPL11 RPL15 RPL26 RPL35A RPL5
2 focal adhesion GO:0005925 10.23 RPL5 RPS10 RPS17 RPS19 RPS29 RPS7
3 cytosolic small ribosomal subunit GO:0022627 10.16 RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
4 synapse GO:0045202 10.13 RPS7 RPS24 RPS20 RPS17 RPL35A RPL26
5 ribosome GO:0005840 10.11 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
6 cytosolic large ribosomal subunit GO:0022625 10.02 RPL11 RPL15 RPL26 RPL35A RPL5
7 small ribosomal subunit GO:0015935 9.97 RPS29 RPS26 RPS24 RPS20
8 polysomal ribosome GO:0042788 9.88 RPS29 RPS26 RPL11
9 ribonucleoprotein complex GO:1990904 9.86 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
10 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.78 RPS29 RPS26
11 cytosolic ribosome GO:0022626 9.66 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 10.11 TP53 RPS7 RPL5 RPL11
2 rRNA processing GO:0006364 10.09 RPL11 RPL26 RPL35A RPL5 RPS17 RPS19
3 cytoplasmic translation GO:0002181 10.07 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
4 ribosomal small subunit biogenesis GO:0042274 9.97 RPS24 RPS19 RPS17 RPS7
5 ribosomal large subunit biogenesis GO:0042273 9.96 HEATR3 RPL11 RPL26 RPL35A RPL5
6 negative regulation of ubiquitin protein ligase activity GO:1904667 9.92 RPS7 RPS20 RPL5 RPL11
7 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.88 RPL11 RPL5 RPS7
8 erythrocyte homeostasis GO:0034101 9.8 RPS24 RPS17
9 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.76 RPS7 RPL11
10 translation GO:0006412 9.74 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
11 negative regulation of protein neddylation GO:2000435 9.73 RPL5 RPL11
12 positive regulation of signal transduction by p53 class mediator GO:1901798 9.65 RPS20 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 10.25 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2 structural constituent of ribosome GO:0003735 9.74 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3 mRNA 5'-UTR binding GO:0048027 9.73 RPS7 RPL5 RPL26
4 MDM2/MDM4 family protein binding GO:0097371 9.67 TP53 RPS20
5 5S rRNA binding GO:0008097 9.62 RPL5 RPL11
6 ubiquitin ligase inhibitor activity GO:1990948 9.56 RPS7 RPS20 RPL5 RPL11

Sources for Diamond-Blackfan Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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