MCID: DMN023
MIFTS: 48

Diamond-Blackfan Anemia 1

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

Aliases & Classifications for Diamond-Blackfan Anemia 1

MalaCards integrated aliases for Diamond-Blackfan Anemia 1:

Name: Diamond-Blackfan Anemia 1 53 71 28 13 69
Aase Syndrome 53 72 71 28 69
Erythrogenesis Imperfecta 53 71 69
Blackfan-Diamond Syndrome 53 71
Aase-Smith Syndrome Ii 53 71
Dba1 53 71
Dba 53 71
Bds 53 71
Anemia, Congenital Hypoplastic, of Blackfan and Diamond 53
Congenital Hypoplastic Anemia of Blackfan and Diamond 71
Anemia, Congenital Erythroid Hypoplastic 53
Aregenerative Anemia, Chronic Congenital 53
Congenital Erythroid Hypoplastic Anemia 71
Chronic Congenital Aregenerative Anemia 71
Red Cell Aplasia, Pure, Hereditary 53
Pure Hereditary Red Cell Aplasia 71
Blackfan-Diamond Syndrome; Bds 53
Anemia, Diamond-Blackfan 69
Aase Smith Syndrome 2 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 1

OMIM : 53 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 diamond-blackfan anemia and behcet syndrome, and has symptoms including hypertelorism, short neck and high palate. 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 Deferasirox and Deferoxamine 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.

Wikipedia : 72 Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some... more...

Related Diseases for Diamond-Blackfan Anemia 1

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:

53
Head And Neck Eyes:
hypertelorism
strabismus
downslanting palpebral fissures

Growth Other:
failure to thrive
intrauterine growth retardation, mild

Growth Height:
short stature

Head And Neck Face:
micrognathia
retrognathia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neoplasia:
colon cancer
osteogenic sarcoma
myelodysplastic syndrome

Chest RibsSternum Clavicles And Scapulae:
11 pairs of ribs
clavicle agenesis

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

Head And Neck Nose:
flat nose

Chest External Features:
narrow shoulders

Skeletal Hands:
triphalangeal thumbs
bifid thumbs
hypoplastic thumbs
absent thumbs

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Head:
microcephaly
delayed closure of fontanel

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

Skin Nails Hair Skin:
pallor

Hematology:
thrombocytopenia
thrombocytosis
reticulocytopenia
anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic)
neutropenia, mild
more
Prenatal Manifestations Delivery:
premature birth

Skeletal Pelvis:
hypoplastic ilia

Skeletal Skull:
parietal foramina

Cardiovascular Vascular:
coarctation of the aorta
absent radial pulse

Skeletal Limbs:
mild radial hypoplasia

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


Clinical features from OMIM:

105650

Human phenotypes related to Diamond-Blackfan Anemia 1:

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

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

25
# 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 all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
2
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
3
Iron Approved Phase 2 7439-89-6 23925
4
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
5 Chelating Agents Phase 2
6 Iron Chelating Agents Phase 2
7 Anti-Inflammatory Agents Phase 1, Phase 2
8 Antineoplastic Agents, Hormonal Phase 1, Phase 2
9 glucocorticoids Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
13 leucine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
2 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
3 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

Search NIH Clinical Center for Diamond-Blackfan Anemia 1

Genetic Tests for Diamond-Blackfan Anemia 1

Genetic tests related to Diamond-Blackfan Anemia 1:

# Genetic test Affiliating Genes
1 Aase Syndrome 28 RPL5
2 Diamond-Blackfan Anemia 1 28 RPS19

Anatomical Context for Diamond-Blackfan Anemia 1

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

38
Bone, Bone Marrow, Heart, Colon, Myeloid

Publications for Diamond-Blackfan Anemia 1

Articles related to Diamond-Blackfan Anemia 1:

# Title Authors Year
1
Roentgen appearance of anomalies associated with hypoplastic anemias of childhood: Fanconi's anemia and congenital hypoplastic anemia (erythrogenesis imperfecta). ( 5938027 )
1966

Variations for Diamond-Blackfan Anemia 1

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

71 (show all 23)
# 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)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS19 NC_000019.8: g.47056452_47061521del5070 deletion Pathogenic GRCh37 Chromosome 19, 42364612: 42369681
2 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh37 Chromosome 1, 93300390: 93300390
3 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
4 RPL5 NM_000969.4(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
5 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
6 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
7 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
8 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
9 RPS19 NM_001022.3(RPS19): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs61762293 GRCh37 Chromosome 19, 42373208: 42373208
10 RPS19 NM_001022.3(RPS19): c.184C> T (p.Arg62Trp) single nucleotide variant Pathogenic rs104894711 GRCh37 Chromosome 19, 42373112: 42373112
11 RPS19 NM_001022.3(RPS19): c.98G> A (p.Trp33Ter) single nucleotide variant Pathogenic rs104894716 GRCh37 Chromosome 19, 42365207: 42365207
12 RPS19 NM_001022.3(RPS19): c.250A> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121908649 GRCh37 Chromosome 19, 42373178: 42373178
13 RPS19 NM_001022.3(RPS19): c.307delG (p.Val103Serfs) deletion Pathogenic rs786200935 GRCh37 Chromosome 19, 42373235: 42373235
14 RPS19 RPS19, LEU45GLN AND 2-BP INS, 160CT insertion Pathogenic
15 RPS19 NM_001022.3(RPS19): c.43G> T (p.Val15Phe) single nucleotide variant Pathogenic rs104894717 GRCh37 Chromosome 19, 42364887: 42364887
16 RPS19 NM_001022.3(RPS19): c.380G> A (p.Gly127Glu) single nucleotide variant Pathogenic rs786200936 GRCh38 Chromosome 19, 41869722: 41869722
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:

# 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:

# 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:

# 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:

# 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
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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