MCID: DMN024
MIFTS: 23

Diamond-Blackfan Anemia 7

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

Aliases & Classifications for Diamond-Blackfan Anemia 7

MalaCards integrated aliases for Diamond-Blackfan Anemia 7:

Name: Diamond-Blackfan Anemia 7 53 71 28 13 69
Dba7 53 71

Characteristics:

OMIM:

53
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 : 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). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (612562)

MalaCards based summary : Diamond-Blackfan Anemia 7, is also known as dba7, and has symptoms including osteopenia, scoliosis and hearing impairment. An important gene associated with Diamond-Blackfan Anemia 7 is RPL11 (Ribosomal Protein L11). Affiliated tissues include bone, heart and bone marrow.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
osteopenia
osteoporosis

Hematology:
anemia
neutropenia

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

Head And Neck Nose:
choanal atresia

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

Skeletal Hands:
triphalangeal thumbs
hypoplastic thumbs

Prenatal Manifestations Movement:
fetal distress

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 Spine:
scoliosis

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

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

Chest RibsSternum Clavicles And Scapulae:
sprengel deformity

Head And Neck Face:
cathie facies

Abdomen Gastroin testinal:
eosinophilic esophagitis
gastrointestinal reflux

Immunology:
recurrent infections (chest, otitis media)

Prenatal Manifestations Delivery:
poor progression in labor


Clinical features from OMIM:

612562

Human phenotypes related to Diamond-Blackfan Anemia 7:

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

Drugs & Therapeutics for Diamond-Blackfan Anemia 7

Search Clinical Trials , NIH Clinical Center for 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 28 RPL11

Anatomical Context for Diamond-Blackfan Anemia 7

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

38
Bone, Heart, Bone Marrow, Kidney

Publications for Diamond-Blackfan Anemia 7

Variations for Diamond-Blackfan Anemia 7

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

71
# Symbol AA change Variation ID SNP ID
1 RPL11 p.Leu20His VAR_055448

ClinVar genetic disease variations for Diamond-Blackfan Anemia 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL11 NM_000975.4(RPL11): c.476_477delAA (p.Lys159Argfs) deletion Pathogenic rs587777119 GRCh37 Chromosome 1, 24022367: 24022368
2 RPL11 NM_000975.4(RPL11): c.204delT (p.Ile68Metfs) deletion Pathogenic rs587777120 GRCh37 Chromosome 1, 24020343: 24020343
3 RPL11 NM_000975.4(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh37 Chromosome 1, 24020362: 24020362
4 RPL11 RPL11, 2-BP DEL, 60CT deletion Pathogenic
5 RPL11 RPL11, 3-BP DEL, 482AGG deletion Pathogenic
6 RPL11 RPL11, IVS2AS, G-A, -1 single nucleotide variant Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
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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