MCID: DMN023
MIFTS: 50

Diamond-Blackfan Anemia 1

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

Aliases & Classifications for Diamond-Blackfan Anemia 1

MalaCards integrated aliases for Diamond-Blackfan Anemia 1:

Name: Diamond-Blackfan Anemia 1 54 71 29 13 69
Aase Syndrome 71 29 69
Erythrogenesis Imperfecta 71 69
Congenital Hypoplastic Anemia of Blackfan and Diamond 71
Congenital Erythroid Hypoplastic Anemia 71
Chronic Congenital Aregenerative Anemia 71
Pure Hereditary Red Cell Aplasia 71
Blackfan-Diamond Syndrome 71
Anemia, Diamond-Blackfan 69
Aase-Smith Syndrome Ii 71
Aase Smith Syndrome 2 69
Dba1 71
Bds 71
Dba 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most cases are sporadic
age at diagnosis 2-4 months
40% patients have associated abnormalities
variable expressivity in families


HPO:

32
diamond-blackfan anemia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 1

OMIM : 54
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). (105650)

MalaCards based summary : Diamond-Blackfan Anemia 1, also known as aase syndrome, is related to bd syndrome and behcet syndrome, and has symptoms including short stature, failure to thrive and neutropenia. An important gene associated with Diamond-Blackfan Anemia 1 is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are rRNA processing in the nucleus and cytosol and Influenza Viral RNA Transcription and Replication. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are Decreased cell number and Decreased viability

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 1: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.

Related Diseases for Diamond-Blackfan Anemia 1

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 12 Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 1 Gata1-Related Diamond-Blackfan Anemia
Rpl11-Related Diamond-Blackfan Anemia Rpl15-Related Diamond-Blackfan Anemia
Rpl26-Related Diamond-Blackfan Anemia Rpl35a-Related Diamond-Blackfan Anemia
Rpl5-Related Diamond-Blackfan Anemia Rps10-Related Diamond-Blackfan Anemia
Rps17-Related Diamond-Blackfan Anemia Rps19-Related Diamond-Blackfan Anemia
Rps24-Related Diamond-Blackfan Anemia Rps26-Related Diamond-Blackfan Anemia
Rps7-Related Diamond-Blackfan Anemia

Diseases related to Diamond-Blackfan Anemia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 bd syndrome 11.9
2 behcet syndrome 11.4
3 rps19-related diamond-blackfan anemia 11.2
4 binswanger's disease 11.1
5 dementia - subcortical 11.1
6 subcortical arteriosclerotic encephalopathy 11.1
7 boomerang dysplasia 11.1
8 diamond-blackfan anemia 10.9
9 facio skeletal genital syndrome rippberger type 10.8
10 diamond-blackfan anemia 6 10.8
11 diamond-blackfan anemia 8 10.7
12 diamond-blackfan anemia 12 10.7
13 diamond-blackfan anemia 5 10.7
14 diamond-blackfan anemia 9 10.7
15 diamond-blackfan anemia 3 10.7
16 diamond-blackfan anemia 10 10.7
17 diamond-blackfan anemia 4 10.7
18 diamond-blackfan anemia 11 10.7
19 aregenerative anemia 9.9
20 transient erythroblastopenia of childhood 9.6 RPL5 RPS19
21 campomelic dysplasia 9.5 RPL5 RPS19
22 dilated cardiomyopathy 9.5 RPL5 RPS19
23 glanders 9.4 RPL5 RPS19
24 west nile fever 9.2 RPL5 RPS19

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 1:



Diseases related to Diamond-Blackfan Anemia 1

Symptoms & Phenotypes for Diamond-Blackfan Anemia 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
high-arched palate
cleft palate
cleft lip

Head And Neck- Head:
microcephaly
delayed closure of fontanel

Head And Neck- Face:
micrognathia
retrognathia

Prenatal Manifestations- Delivery:
premature birth

Skeletal- Hands:
triphalangeal thumbs
hypoplastic thumbs
absent thumbs
bifid thumbs

Skeletal- Pelvis:
hypoplastic ilia

Neoplasia:
colon cancer
myelodysplastic syndrome
osteogenic sarcoma

Head And Neck- Nose:
flat nose

Skin Nails & Hair- Skin:
pallor

Chest- External Features:
narrow shoulders

Skeletal- Limbs:
mild radial hypoplasia

Growth- Other:
failure to thrive
intrauterine growth retardation, mild

Head And Neck- Eyes:
strabismus
downslanting palpebral fissures
hypertelorism

Hematology:
thrombocytopenia
reticulocytopenia
thrombocytosis
elevated fetal hemoglobin (hbf)
anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic)
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Head And Neck- Neck:
short neck
webbed neck

Laboratory- Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Chest- Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
clavicle agenesis

Cardiovascular- Vascular:
coarctation of the aorta
absent radial pulse

Neurologic- Central Nervous System:
mental retardation (in some patients)

Skeletal- Skull:
parietal foramina

Skeletal- Spine:
bifid thoracic vertebrae
hypoplastic sacral vertebrae
hypoplastic coccygeal vertebrae


Clinical features from OMIM:

105650

Human phenotypes related to Diamond-Blackfan Anemia 1:

32 (show all 44)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 neutropenia 32 HP:0001875
4 strabismus 32 HP:0000486
5 microcephaly 32 HP:0000252
6 thrombocytopenia 32 HP:0001873
7 micrognathia 32 HP:0000347
8 hypertelorism 32 HP:0000316
9 intrauterine growth retardation 32 HP:0001511
10 cleft palate 32 HP:0000175
11 atrial septal defect 32 HP:0001631
12 premature birth 32 HP:0001622
13 retrognathia 32 HP:0000278
14 short neck 32 HP:0000470
15 narrow chest 32 HP:0000774
16 intellectual disability 32 occasional (7.5%) HP:0001249
17 ventricular septal defect 32 HP:0001629
18 webbed neck 32 HP:0000465
19 coarctation of aorta 32 HP:0001680
20 hypoplastic ilia 32 HP:0000946
21 congestive heart failure 32 HP:0001635
22 downslanted palpebral fissures 32 HP:0000494
23 high palate 32 HP:0000218
24 11 pairs of ribs 32 HP:0000878
25 colon cancer 32 HP:0003003
26 short thumb 32 HP:0009778
27 reticulocytopenia 32 HP:0001896
28 triphalangeal thumb 32 HP:0001199
29 myelodysplasia 32 HP:0002863
30 pallor 32 HP:0000980
31 thrombocytosis 32 HP:0001894
32 parietal foramina 32 HP:0002697
33 osteosarcoma 32 HP:0002669
34 congenital hypoplastic anemia 32 HP:0004810
35 depressed nasal ridge 32 HP:0000457
36 absent thumb 32 HP:0009777
37 bifid thoracic vertebrae 32 HP:0008437
38 hypoplastic sacral vertebrae 32 HP:0008475
39 hypoplastic coccygeal vertebrae 32 HP:0008447
40 partial duplication of thumb phalanx 32 HP:0009944
41 cleft upper lip 32 HP:0000204
42 hypoplasia of the radius 32 HP:0002984
43 delayed cranial suture closure 32 HP:0000270
44 elevated red cell adenosine deaminase activity 32 HP:0030270

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00303-A 9.16 RPL5 RPS19
2 Decreased viability GR00106-A-0 9.13 RPL5 RPS19
3 Decreased viability GR00381-A-1 9.13 RPS19
4 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.62 RPL5 RPS19

Drugs & Therapeutics for Diamond-Blackfan Anemia 1

Drugs for Diamond-Blackfan Anemia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3, Early Phase 1 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
6
Lenograstim Approved Phase 2, Phase 3 135968-09-1
7 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
8 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
9 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
10 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
12 Antiviral Agents Phase 2, Phase 3, Early Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
14 Adjuvants, Immunologic Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
16
Iron Approved Phase 2 7439-89-6 23925
17
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
18
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
19
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
20
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
23
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 4053 460612
24 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
25
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
27
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
28
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
29
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
30
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
31
Mechlorethamine Approved Phase 2 51-75-2 4033
32
Daclizumab Approved, Investigational Phase 2 152923-56-3
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
34
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
35 Liver Extracts Phase 1, Phase 2
36 Chelating Agents Phase 2
37 Iron Chelating Agents Phase 2
38 Antiemetics Phase 2,Phase 1
39 Antifungal Agents Phase 2
40 Anti-Inflammatory Agents Phase 2,Phase 1
41 Antineoplastic Agents, Hormonal Phase 2,Phase 1
42 Autonomic Agents Phase 2,Phase 1
43 Calcineurin Inhibitors Phase 2,Phase 1
44 Cyclosporins Phase 2,Phase 1
45 Dermatologic Agents Phase 2
46 Folic Acid Antagonists Phase 2
47 Gastrointestinal Agents Phase 2,Phase 1
48 glucocorticoids Phase 2,Phase 1
49 Hormone Antagonists Phase 2,Phase 1
50 Hormones Phase 2,Phase 1

Interventional clinical trials:

(show all 29)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
3 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
4 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
5 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
6 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
7 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
8 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
9 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
10 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
11 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
12 Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
13 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
15 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
16 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
17 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
18 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
19 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
20 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
21 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
22 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
23 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
24 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
25 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
26 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
27 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
28 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
29 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

Search NIH Clinical Center for Diamond-Blackfan Anemia 1

Genetic Tests for Diamond-Blackfan Anemia 1

Genetic tests related to Diamond-Blackfan Anemia 1:

id Genetic test Affiliating Genes
1 Aase Syndrome 29
2 Diamond-Blackfan Anemia 1 29

Anatomical Context for Diamond-Blackfan Anemia 1

MalaCards organs/tissues related to Diamond-Blackfan Anemia 1:

39
Bone, Bone Marrow, Heart, Myeloid, Liver, Colon, T Cells

Publications for Diamond-Blackfan Anemia 1

Variations for Diamond-Blackfan Anemia 1

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 1:

71 (show all 23)
id Symbol AA change Variation ID SNP ID
1 RPS19 p.Arg62Trp VAR_006924 rs104894711
2 RPS19 p.Arg56Gln VAR_018437
3 RPS19 p.Val15Phe VAR_018438 rs104894717
4 RPS19 p.Leu18Pro VAR_018439
5 RPS19 p.Pro47Leu VAR_018440
6 RPS19 p.Trp52Arg VAR_018441
7 RPS19 p.Thr55Met VAR_018442 rs147508369
8 RPS19 p.Ala61Glu VAR_018443
9 RPS19 p.Arg62Gln VAR_018444
10 RPS19 p.Arg101His VAR_018445
11 RPS19 p.Gly120Arg VAR_018446
12 RPS19 p.Leu131Pro VAR_018447
13 RPS19 p.Ala17Pro VAR_046145
14 RPS19 p.Leu18Arg VAR_046146
15 RPS19 p.Ser59Phe VAR_046148
16 RPS19 p.Leu131Arg VAR_046149
17 RPS19 p.Phe21Ser VAR_055438
18 RPS19 p.Trp52Cys VAR_055439
19 RPS19 p.Ala57Pro VAR_055440
20 RPS19 p.Leu64Pro VAR_055441
21 RPS19 p.Thr76Pro VAR_055442
22 RPS19 p.Gly127Glu VAR_055444 rs786200936
23 RPS19 p.Ala135Thr VAR_055445

ClinVar genetic disease variations for Diamond-Blackfan Anemia 1:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
2 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
3 RPL5 NM_000969.4(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
4 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
5 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
6 RPS19 NM_001022.3(RPS19): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs61762293 GRCh37 Chromosome 19, 42373208: 42373208
7 RPS19 NM_001022.3(RPS19): c.184C> T (p.Arg62Trp) single nucleotide variant Pathogenic rs104894711 GRCh37 Chromosome 19, 42373112: 42373112
8 RPS19 NM_001022.3(RPS19): c.98G> A (p.Trp33Ter) single nucleotide variant Pathogenic rs104894716 GRCh37 Chromosome 19, 42365207: 42365207
9 RPS19 NM_001022.3(RPS19): c.250A> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121908649 GRCh37 Chromosome 19, 42373178: 42373178
10 RPS19 NM_001022.3(RPS19): c.307delG (p.Val103Serfs) deletion Pathogenic rs786200935 GRCh37 Chromosome 19, 42373235: 42373235
11 RPS19 RPS19, LEU45GLN AND 2-BP INS, 160CT insertion Pathogenic
12 RPS19 NM_001022.3(RPS19): c.43G> T (p.Val15Phe) single nucleotide variant Pathogenic rs104894717 GRCh37 Chromosome 19, 42364887: 42364887
13 RPS19 NM_001022.3(RPS19): c.380G> A (p.Gly127Glu) single nucleotide variant Pathogenic rs786200936 GRCh38 Chromosome 19, 41869722: 41869722
14 RPS19 NC_000019.8: g.47056452_47061521del5070 deletion Pathogenic GRCh37 Chromosome 19, 42364612: 42369681
15 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh38 Chromosome 1, 92834833: 92834833
16 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
17 RPS19 NM_001022.3(RPS19): c.356+3A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 42373287: 42373287

Expression for Diamond-Blackfan Anemia 1

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 1.

Pathways for Diamond-Blackfan Anemia 1

Pathways related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.76 RPL5 RPS19
2
Show member pathways
11.27 RPL5 RPS19

GO Terms for Diamond-Blackfan Anemia 1

Cellular components related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.16 RPL5 RPS19
2 intracellular ribonucleoprotein complex GO:0030529 8.96 RPL5 RPS19
3 ribosome GO:0005840 8.62 RPL5 RPS19

Biological processes related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.37 RPL5 RPS19
2 rRNA processing GO:0006364 9.32 RPL5 RPS19
3 translational initiation GO:0006413 9.26 RPL5 RPS19
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.16 RPL5 RPS19
5 viral transcription GO:0019083 8.96 RPL5 RPS19
6 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.62 RPL5 RPS19

Molecular functions related to Diamond-Blackfan Anemia 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.62 RPL5 RPS19

Sources for Diamond-Blackfan Anemia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....