Diamond-Blackfan Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Metabolic diseases Genetic diseases Cancer diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

Other aplastic anaemias

Constitutional aplastic anaemia

ICD11: ³³

Certain conditions originating in the perinatal period

Haemorrhagic or haematological disorders of fetus or newborn

Congenital hypoplastic anaemia

Diseases of the blood or blood-forming organs

Anaemias or other erythrocyte disorders

Pure red cell aplasia

Congenital pure red cell aplasia

Congenital pure red cell aplasia, unspecified

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

Disease Ontology ¹¹ DOID:1339

MeSH ⁴³ D029503

NCIt ⁴⁹ C61236

ICD10 ³¹ D61.0

MESH via Orphanet ⁴⁴ D029503

ICD10 via Orphanet ³² D61.0

UMLS via Orphanet ⁷² C1260899 C2931850

Orphanet ⁵⁸ ORPHA124

ICD11 ³³ 217030515 217030515/unspecified 557764336

UMLS ⁷¹ C0015625 C0265265 C0340951 more

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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

Sources

Related Diseases for Diamond-Blackfan Anemia

Diseases in the Diamond-Blackfan Anemia family:

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:

Sources

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

Sources

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

Deferasirox

Approved, Investigational

Phase 4

201530-41-8

214348 5493381

Iron Chelating Agents

Phase 4

Chelating Agents

Phase 4

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Alemtuzumab

Approved, Investigational

Phase 2, Phase 3

216503-57-0

Miconazole

Approved, Investigational, Vet_approved

Phase 2, Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 2, Phase 3

23593-75-1

2812

Mycophenolic acid

Approved, Investigational

Phase 2, Phase 3

24280-93-1

446541

Fludarabine

Approved

Phase 2, Phase 3

75607-67-9, 21679-14-1

30751 657237

Vidarabine

Approved, Investigational

Phase 2, Phase 3

24356-66-9

21704

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

Orange

Approved

Phase 3

Sirolimus

Approved, Investigational

Phase 2, Phase 3

53123-88-9

5284616 6436030

Antirheumatic Agents

Phase 2, Phase 3

Antifungal Agents

Phase 2, Phase 3

Anti-Bacterial Agents

Phase 2, Phase 3

Antitubercular Agents

Phase 2, Phase 3

Antibiotics, Antitubercular

Phase 2, Phase 3

Plerixafor

Approved

Phase 1, Phase 2

110078-46-1

65015

Iron

Approved

Phase 2

7439-89-6

29936

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 2

52-21-1

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

4159 6741

Mechlorethamine

Approved, Investigational

Phase 2

51-75-2

4033

Deferoxamine

Approved, Investigational

Phase 2

70-51-9

2973

Metformin

Approved

Phase 2

1115-70-4, 657-24-9

4091

Sargramostim

Approved, Investigational

Phase 2

123774-72-1

Rituximab

Approved

Phase 1, Phase 2

174722-31-7

Hydroxyurea

Approved

Phase 1, Phase 2

127-07-1

3657

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Treosulfan

Approved, Investigational

Phase 2

299-75-2

9296

Pembrolizumab

Approved

Phase 2

1374853-91-4

254741536

Olaparib

Approved

Phase 2

763113-22-0

23725625

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

Dopamine

Approved

Phase 1, Phase 2

62-31-7, 51-61-6

681

Trifluoperazine

Approved, Investigational

Phase 1, Phase 2

440-17-5, 117-89-5

5566

Prednisone

Approved, Vet_approved

Phase 1, Phase 2

53-03-2

5865

Lenograstim

Approved, Investigational

Phase 2

135968-09-1

Danazol

Approved

Phase 1, Phase 2

17230-88-5

28417

D-Phenylalanine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

63-91-2, 673-06-3

6140 71567

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

Prednisolone hemisuccinate

Experimental

Phase 2

2920-86-7

4897

Molgramostim

Investigational

Phase 2

99283-10-0

Daclizumab

Investigational, Withdrawn

Phase 2

152923-56-3

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:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Diamond-Blackfan Anemia cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Diamond-Blackfan Anemia:

	ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
	Hematopoietic stem cells for refractory severe aplastic anemia or refractory cytopenias

Embryonic/Adult Cultured Cells Related to Diamond-Blackfan Anemia:

	Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905
	Peripheral blood-derived hematopoietic stem cells

Cochrane evidence based reviews: anemia, diamond-blackfan

Sources

Genetic Tests for Diamond-Blackfan Anemia

Genetic tests related to Diamond-Blackfan Anemia:

#	Genetic test	Affiliating Genes
1	Diamond-Blackfan Anemia ²⁸

Sources

Anatomical Context for Diamond-Blackfan Anemia

Organs/tissues related to Diamond-Blackfan Anemia:

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

Sources

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	Quarello P...Ramenghi U	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	Idol RA...Mason PJ	17376718	2007
3	Impaired ribosome biogenesis in Diamond-Blackfan anemia. ⁵³ ⁶² ²⁴ ⁵	Choesmel V...Gleizes PE	17053056	2007
4	Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. ⁵³ ⁶² ²⁴ ⁵	Leger-Silvestre I...Ellis SR	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	Ramenghi U...Dianzani I	11112378	2000
6	Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. ⁵³ ⁶² ²⁴ ⁵	Willig TN...Tchernia G	10590074	1999
7	The Genetic Landscape of Diamond-Blackfan Anemia. ⁶² ²⁴ ⁵	Ulirsch JC...Gazda HT	30503522	2018
8	Altered translation of GATA1 in Diamond-Blackfan anemia. ⁶² ²⁴ ⁵	Ludwig LS...Sankaran VG	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	Quarello P...Ramenghi U	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	Gazda HT...Beggs AH	22431104	2012
11	Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. ⁶² ²⁴ ⁵	Kuramitsu M...Hamaguchi I	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	Cmejla R...Pospisilova D	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	Gazda HT...Beggs AH	19061985	2008
14	Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. ⁶² ²⁴ ⁵	Cmejla R...Jelinek J	10753603	2000
15	Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. ⁵³ ⁶² ⁵	Schuster J...Dahl N	20395159	2010
16	Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. ⁵³ ⁶² ⁵	Badhai J...Dahl N	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	Cretien A...Da Costa L	18768533	2008
18	RPS19 mutations in patients with Diamond-Blackfan anemia. ⁵³ ⁶² ⁵	Campagnoli MF...Dianzani I	18412286	2008
19	Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. ⁵³ ⁶² ⁵	Angelini M...Loreni F	17517689	2007
20	Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. ⁵³ ⁶² ⁵	Gazda HT...Sieff CA	17186470	2006
21	Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. ⁵³ ⁶² ⁵	Chatr-Aryamontri A...Loreni F	15523650	2004
22	Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. ²⁴ ⁵	Orfali KA...Ball SE	15059149	2004
23	Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. ⁵³ ⁶² ⁵	Proust A...SHIP Working Group on DBA	12750732	2003
24	Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. ⁶² ⁵	Bhar S...Bertuch AA	32790018	2020
25	A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. ⁶² ⁵	Aspesi A...Dianzani I	29766597	2018
26	Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ⁶² ⁵	Ichimura T...Ohga S	27882484	2017
27	Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ⁶² ⁵	Wan Y...Zhu X	27329125	2016
28	Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ⁶² ⁵	Smetanina NS...Maschan AA	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	Flores Ballester E...Burgaleta C	26185635	2015
30	Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. ⁶² ⁵	Delaporta P...Kattamis A	25132370	2014
31	Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. ⁶² ⁵	Farrar JE...Ellis SR	25042156	2014
32	Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. ⁶² ⁵	Gripp KW...Sol-Church K	24942156	2014
33	Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. ⁶² ⁵	Parrella S...Dianzani I	24453067	2014
34	Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. ⁶² ⁵	Chae H...Park G	24675553	2014
35	Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. ⁶² ⁵	Garcon L...Weiss MJ	23744582	2013
36	First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. ⁶² ⁵	Da Costa L...Touraine R	23349008	2013
37	Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. ⁶² ⁵	Sankaran VG...Gazda HT	22706301	2012
38	Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea. ⁶² ⁵	Kim SK...Yoo ES	22783360	2012
39	The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. ⁶² ⁵	Pospisilova D...Cmejla R	22381658	2012
40	Ribosomal protein gene deletions in Diamond-Blackfan anemia. ⁶² ⁵	Farrar JE...Bodine DM	22045982	2011
41	The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. ⁶² ⁵	Boria I...Dianzani I	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	Devlin EE...Bodine DM	20606162	2010
43	Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. ⁶² ⁵	Konno Y...Ito E	20378560	2010
44	[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients]. ⁶² ⁵	Chae H...Kim HK	20603584	2010
45	A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. ⁶² ⁵	Song MJ...Kim SH	19953637	2010
46	Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. ⁶² ⁵	Doherty L...Gazda HT	20116044	2010
47	Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. ⁶² ⁵	Handler MZ...Miller J	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	Miyake K...Karlsson S	17962699	2008
49	Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. ⁶² ⁵	Cmejla R...Pospisilova D	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	Flygare J...Ellis SR	16990592	2007

Sources

Genes for Diamond-Blackfan Anemia

Genes related to Diamond-Blackfan Anemia (29 elite genes):

(show top 50) (show all 182)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPS19	Ribosomal Protein S19	Protein Coding	860.28	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	3769971 9988267 10590074 (more) 10753603 11112378 12750732 15059149 15384984 15523650 16159874 17053056 17082006 17517689 17726054 18412286 18768533 20378560 20395159 20603584 20606162 20960466 22045982 22262766 22783360 23349008 24675553 24952648 25042156 25132370 25381059 25946618 27882484 28102861 29766597 30503522 17376718 18217898 22381658 26604301 20301769 16531079 12586610 17178250 19587786 20054847 19773262 15771965 18653748 15626736 18815190 17356406 16239073 16121806 15082795 19898770 16990592 16266891 15755903 12446419 19454283 16289379 16794503 12718904 10598818 19689926 17962699 18835835 12393682 17186470 19126570 20194897 16458028 12351378
2	RPL5	Ribosomal Protein L5	Protein Coding	812.93	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	19061985 19191325 19773262 (more) 20378560 20960466 21659346 22689679 23718193 23744582 25946618 27432187 28991257 16199547 20301769
3	RPS24	Ribosomal Protein S24	Protein Coding	812.63	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	17186470 19689926 20960466 (more) 26136524 20301769
4	RPS26	Ribosomal Protein S26	Protein Coding	812.18	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	19816270 20116044 22381658 (more) 23718193 24675553 24942156 26604301 27329125 20301769
5	RPL11	Ribosomal Protein L11	Protein Coding	802.36	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	19061985 19773262 20960466 (more) 22689679 26136524 16199547 23718193 26185635 20301769
6	RPL35A	Ribosomal Protein L35a	Protein Coding	802.2	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	20301769 25424902
7	RPS10	Ribosomal Protein S10	Protein Coding	801.26	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	20116044 23718193 16199547 (more) 20301769
8	GATA1	GATA Binding Protein 1	Protein Coding	790.88	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	8628290 11566888 15920471 (more) 16095949 16783379 22706301 23704091 24255919 24453067 16199547 24952648
9	RPS17	Ribosomal Protein S17	Protein Coding	787.41	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	17647292 19953637 20301769
10	RPS7	Ribosomal Protein S7	Protein Coding	773.29	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	20301769
11	RPS20	Ribosomal Protein S20	Protein Coding	764.37	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	32790018
12	HEATR3	HEAT Repeat Containing 3	Protein Coding	429.54	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
13	IQCG	IQ Motif Containing G	Protein Coding	428.82	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	25424902
14	DIPK1A	Divergent Protein Kinase Domain 1A	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	19061985 19191325 19773262 (more) 20960466 21659346 23718193 23744582 25946618 27432187 28991257 16199547
15	RPS10-NUDT3	RPS10-NUDT3 Readthrough	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	20116044 23718193 16199547
16	TP53	Tumor Protein P53	Protein Coding	406.48	Pathogenic ⁵ DISEASES inferred ¹⁴
17	RPL26	Ribosomal Protein L26	Protein Coding	385.83	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	20301769 22431104
18	TSR2	TSR2 Ribosome Maturation Factor	Protein Coding	385.8	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	24942156
19	RPL15	Ribosomal Protein L15	Protein Coding	385.59	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	20301769 23812780
20	RPS29	Ribosomal Protein S29	Protein Coding	375.28	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	24829207
21	RPS28	Ribosomal Protein S28	Protein Coding	374.83	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	24942156
22	RPL18	Ribosomal Protein L18	Protein Coding	374.11	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	28280134
23	RPS15A	Ribosomal Protein S15a	Protein Coding	374.03	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	27909223
24	RPL35	Ribosomal Protein L35	Protein Coding	373.73	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	28280134
25	ADA2	Adenosine Deaminase 2	Protein Coding	355.27	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	30503522
26	DBA2	Diamond-Blackfan Anemia 2	Genetic Locus	68.03	MalaCards inferred ³⁹ GeneCards inferred via : Publications Gene name (show sections)
27	RPS27	Ribosomal Protein S27	Protein Coding	59.93	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	25424902
28	RPL27	Ribosomal Protein L27	Protein Coding	50.04	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	25424902
29	RPL31	Ribosomal Protein L31	Protein Coding	39.48	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	25042156
30	EPO	Erythropoietin	Protein Coding	36.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	2040190 2024647 16458028 (more) 8298126
31	IL3	Interleukin 3	Protein Coding	29.26	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9371275 8338944 8167334 (more) 7691318 1718489 7691333 8286756
32	KITLG	KIT Ligand	Protein Coding	22.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1370205 7544739 1718487 (more) 7691319 1373335 7527782 12635896
33	THPO	Thrombopoietin	Protein Coding	16.74	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15531462
34	RPS14	Ribosomal Protein S14	Protein Coding	15.97	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	FLVCR1	FLVCR Heme Transporter 1	Protein Coding	15.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	RPS15	Ribosomal Protein S15	Protein Coding	14.45	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	RPL36	Ribosomal Protein L36	Protein Coding	14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	RPS16	Ribosomal Protein S16	Protein Coding	13.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	RPL3	Ribosomal Protein L3	Protein Coding	13.49	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	RSL24D1	Ribosomal L24 Domain Containing 1	Protein Coding	13.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	RPL23A	Ribosomal Protein L23a	Protein Coding	13.38	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	EPOR	Erythropoietin Receptor	Protein Coding	13.3	DISEASES inferred ¹⁴ GeneCards inferred via : Functions (show sections)
43	RPS27A	Ribosomal Protein S27a	Protein Coding	13.19	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	RPS2	Ribosomal Protein S2	Protein Coding	12.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	12.81	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	12.37	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	JAK2	Janus Kinase 2	Protein Coding	12.08	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	9.66	DISEASES inferred ¹⁴ ¹⁴
49	LUC7L2	LUC7 Like 2, Pre-MRNA Splicing Factor	Protein Coding	7.78	DISEASES inferred ¹⁴ ¹⁴
50	PIM1	Pim-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	7.78	GeneCards inferred via : Publications (show sections)

Sources

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

Sources

Expression for Diamond-Blackfan Anemia

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

Sources

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	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.89	TP53 RPS7 RPS29 RPS26 RPS24 RPS20
2	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.79	RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.73	TP53 RPS7 RPS29 RPS26 RPS24 RPS20
4	Peptide chain elongation ⁶⁶ Show member pathways Amino acids regulate mTORC1 ⁶⁶ Cap-dependent Translation Initiation ⁶⁶ Cellular response to starvation ⁶⁶ CFTR translational fidelity (class I mutations) ²² Cytoplasmic ribosomal proteins ⁷⁴ Defective PAPSS2 causes SEMD-PA ⁶⁶ Eukaryotic Translation Elongation ⁶⁶ Eukaryotic Translation Initiation ⁶⁶ Eukaryotic Translation Termination ⁶⁶ Formation of a pool of free 40S subunits ⁶⁶ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁶ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁶ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁶ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁶ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁶ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁶ Nonsense-Mediated Decay (NMD) ⁶⁶ Response of EIF2AK4 (GCN2) to amino acid deficiency ⁶⁶ Selenoamino acid metabolism ⁶⁶ Selenocysteine synthesis ⁶⁶ SRP-dependent cotranslational protein targeting to membrane ⁶⁶ sulfate activation for sulfonation ⁶¹ Translation ⁶⁶ Viral mRNA Translation ⁶⁶	13.69	RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.65	RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
6	Processing of Capped Intron-Containing Pre-mRNA ⁶⁶ Show member pathways Metabolism of RNA ⁶⁶ mRNA processing ⁷⁴ mRNA Splicing ⁶⁶ mRNA Splicing - Major Pathway ⁶⁶	13.37	RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7	Cellular responses to stimuli ⁶⁶ Show member pathways Cellular responses to stress ⁶⁶	13.37	TP53 RPS7 RPS29 RPS26 RPS24 RPS20
8	SARS-CoV-2 Infection ⁶⁶ Show member pathways SARS-CoV Infections ⁶⁶ SARS-CoV-2 activates/modulates innate and adaptive immune responses ⁶⁶ SARS-CoV-2-host interactions ⁶⁶	13.16	RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
9	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.85	RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
10	SARS-CoV-1-host interactions ⁶⁶ Show member pathways SARS-CoV-1 activates/modulates innate immune responses ⁶⁶ SARS-CoV-1 Infection ⁶⁶ SARS-CoV-1 targets host intracellular signalling and regulatory pathways ⁶⁶	12.5	RPS10 RPS17 RPS19 RPS20 RPS24 RPS26
11	Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S ⁶⁶ Show member pathways Formation of the ternary complex, and subsequently, the 43S complex ⁶⁶ Ribosomal scanning and start codon recognition ⁶⁶ Translation initiation complex formation ⁶⁶	12.37	RPS7 RPS29 RPS26 RPS24 RPS20 RPS19
12	rRNA processing in the nucleus and cytosol ⁶⁶ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁶ rRNA modification in the nucleus and cytosol ⁶⁶ rRNA processing ⁶⁶	12.25	RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
13	Influenza Infection ⁶⁶ Show member pathways Influenza Viral RNA Transcription and Replication ⁶⁶ Influenza Virus Induced Apoptosis ⁶⁶ vRNP Assembly ⁶⁶	12.24	RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
14	SARS-CoV-2 modulates host translation machinery ⁶⁶ Show member pathways SARS-CoV-1 modulates host translation machinery ⁶⁶	11.8	RPS10 RPS17 RPS19 RPS20 RPS24 RPS26
15	p53 pathway ⁶¹	11.42	TP53 RPL5 RPL11

Sources

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