DBA7
MCID: DMN024
MIFTS: 27

Diamond-Blackfan Anemia 7 (DBA7)

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

Aliases & Classifications for Diamond-Blackfan Anemia 7

MalaCards integrated aliases for Diamond-Blackfan Anemia 7:

Name: Diamond-Blackfan Anemia 7 57 12 72 29 13 6 44 15 70
Dba7 57 12 72
Rpl11-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 7 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in the first years of life


HPO:

31
diamond-blackfan anemia 7:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 7

OMIM® : 57 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). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (612562) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 7, is also known as dba7. An important gene associated with Diamond-Blackfan Anemia 7 is RPL11 (Ribosomal Protein L11). Affiliated tissues include bone marrow and kidney, and related phenotypes are horseshoe kidney and tetralogy of fallot

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL11 on chromosome 1p36.11.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 7: 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 malignancy. 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 7

Symptoms & Phenotypes for Diamond-Blackfan Anemia 7

Human phenotypes related to Diamond-Blackfan Anemia 7:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 horseshoe kidney 31 occasional (7.5%) HP:0000085
2 tetralogy of fallot 31 occasional (7.5%) HP:0001636
3 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
4 scoliosis 31 HP:0002650
5 osteopenia 31 HP:0000938
6 hearing impairment 31 HP:0000365
7 cleft palate 31 HP:0000175
8 osteoporosis 31 HP:0000939
9 intrauterine growth retardation 31 HP:0001511
10 recurrent otitis media 31 HP:0000403
11 sprengel anomaly 31 HP:0000912
12 choanal atresia 31 HP:0000453
13 polyhydramnios 31 HP:0001561
14 patent ductus arteriosus 31 HP:0001643
15 low levels of vitamin d 31 HP:0100512
16 ventricular septal defect 31 HP:0001629
17 short thumb 31 HP:0009778
18 neutropenia 31 HP:0001875
19 triphalangeal thumb 31 HP:0001199
20 atresia of the external auditory canal 31 HP:0000413
21 fetal distress 31 HP:0025116
22 macrocytic anemia 31 HP:0001972
23 secundum atrial septal defect 31 HP:0001684
24 increased mean corpuscular volume 31 HP:0005518
25 esophagitis 31 HP:0100633
26 small hypothenar eminence 31 HP:0010487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Hematology:
anemia
neutropenia

Head And Neck Nose:
choanal atresia

Cardiovascular Heart:
patent ductus arteriosus
ventricular septal defect
ostium secundum atrial septal defect

Growth Other:
growth retardation
intrauterine growth retardation (some patients)

Skeletal Hands:
triphalangeal thumbs
hypoplastic thumbs

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity

Abdomen Liver:
hepatic iron overload, mild to severe

Neurologic Central Nervous System:
delayed linguistic development (rare)

Prenatal Manifestations Placenta And Umbilical Cord:
high eada in cord blood

Skeletal:
osteopenia
osteoporosis

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Movement:
fetal distress

Head And Neck Ears:
hearing loss
auditory canal atresia
otitis media, recurrent

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
vitamin d deficiency

Head And Neck Face:
cathie facies

Abdomen Gastrointestinal:
eosinophilic esophagitis
gastrointestinal reflux

Immunology:
recurrent infections (chest, otitis media)

Prenatal Manifestations Delivery:
poor progression in labor

Clinical features from OMIM®:

612562 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 7

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 7

Cochrane evidence based reviews: diamond-blackfan anemia 7

Genetic Tests for Diamond-Blackfan Anemia 7

Genetic tests related to Diamond-Blackfan Anemia 7:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 7 29 RPL11

Anatomical Context for Diamond-Blackfan Anemia 7

MalaCards organs/tissues related to Diamond-Blackfan Anemia 7:

40
Bone Marrow, Kidney

Publications for Diamond-Blackfan Anemia 7

Articles related to Diamond-Blackfan Anemia 7:

# Title Authors PMID Year
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57
23812780 2013
2
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. 57
23718193 2013
3
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 57
19061985 2008
4
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. 61
28742285 2017

Variations for Diamond-Blackfan Anemia 7

ClinVar genetic disease variations for Diamond-Blackfan Anemia 7:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL11 NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) SNV Pathogenic 5751 rs121434389 GRCh37: 1:24020362-24020362
GRCh38: 1:23693872-23693872
2 RPL11 NM_000975.5(RPL11):c.58_59CT[1] (p.Cys21fs) Microsatellite Pathogenic 5752 rs1570566590 GRCh37: 1:24019150-24019151
GRCh38: 1:23692660-23692661
3 RPL11 NM_000975.5(RPL11):c.479_481AGG[1] (p.Glu161del) Microsatellite Pathogenic 5753 rs1570569083 GRCh37: 1:24022369-24022371
GRCh38: 1:23695879-23695881
4 RPL11 NM_000975.5(RPL11):c.158-1G>A SNV Pathogenic 5754 rs151155897 GRCh37: 1:24020296-24020296
GRCh38: 1:23693806-23693806
5 RPL11 NM_000975.5(RPL11):c.476_477del (p.Lys159fs) Deletion Pathogenic 100640 rs587777119 GRCh37: 1:24022366-24022367
GRCh38: 1:23695876-23695877
6 RPL11 NM_000975.5(RPL11):c.204del (p.Ile68fs) Deletion Pathogenic 100641 rs587777120 GRCh37: 1:24020342-24020342
GRCh38: 1:23693852-23693852
7 RPL11 NM_000975.5(RPL11):c.43_49del (p.Leu15fs) Deletion Pathogenic 522687 rs1553121678 GRCh37: 1:24019134-24019140
GRCh38: 1:23692644-23692650
8 RPL11 NM_000975.5(RPL11):c.465_466del (p.His155fs) Microsatellite Pathogenic 992969 GRCh37: 1:24022353-24022354
GRCh38: 1:23695863-23695864
9 RPL11 NM_000975.5(RPL11):c.270G>A (p.Arg90=) SNV Uncertain significance 296819 rs886046308 GRCh37: 1:24021155-24021155
GRCh38: 1:23694665-23694665
10 RPL11 NM_000975.5(RPL11):c.264+9A>T SNV Uncertain significance 875055 GRCh37: 1:24020412-24020412
GRCh38: 1:23693922-23693922
11 RPL11 NM_000975.5(RPL11):c.287A>G (p.Lys96Arg) SNV Uncertain significance 875056 GRCh37: 1:24021172-24021172
GRCh38: 1:23694682-23694682
12 RPL11 NM_000975.5(RPL11):c.306T>C (p.Thr102=) SNV Uncertain significance 296820 rs886046309 GRCh37: 1:24021191-24021191
GRCh38: 1:23694701-23694701
13 RPL11 NM_000975.5(RPL11):c.-14T>C SNV Uncertain significance 296814 rs886046307 GRCh37: 1:24018300-24018300
GRCh38: 1:23691810-23691810
14 RPL11 NM_000975.5(RPL11):c.158-7C>T SNV Uncertain significance 296818 rs768654673 GRCh37: 1:24020290-24020290
GRCh38: 1:23693800-23693800
15 RPL11 NM_000975.5(RPL11):c.102G>A (p.Thr34=) SNV Likely benign 296816 rs199772693 GRCh37: 1:24019194-24019194
GRCh38: 1:23692704-23692704
16 RPL11 NM_000975.5(RPL11):c.153C>T (p.Ser51=) SNV Benign 296817 rs80133698 GRCh37: 1:24019245-24019245
GRCh38: 1:23692755-23692755
17 RPL11 NM_000975.5(RPL11):c.339C>T (p.Ile113=) SNV Benign 296821 rs8880 GRCh37: 1:24021224-24021224
GRCh38: 1:23694734-23694734
18 RPL11 NM_000975.5(RPL11):c.30C>T (p.Asn10=) SNV Benign 296815 rs139286202 GRCh37: 1:24019122-24019122
GRCh38: 1:23692632-23692632
19 RPL11 NM_000975.5(RPL11):c.396+9A>G SNV Benign 695512 rs201786327 GRCh37: 1:24021290-24021290
GRCh38: 1:23694800-23694800
20 RPL11 NM_000975.5(RPL11):c.*52A>G SNV Benign 296822 rs60606712 GRCh37: 1:24022915-24022915
GRCh38: 1:23696425-23696425

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 7:

72
# Symbol AA change Variation ID SNP ID
1 RPL11 p.Leu20His VAR_055448

Expression for Diamond-Blackfan Anemia 7

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 7.

Pathways for Diamond-Blackfan Anemia 7

GO Terms for Diamond-Blackfan Anemia 7

Sources for Diamond-Blackfan Anemia 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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39 LOVD
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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