MCID: DMN024
MIFTS: 23

Diamond-Blackfan Anemia 7

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

Aliases & Classifications for Diamond-Blackfan Anemia 7

MalaCards integrated aliases for Diamond-Blackfan Anemia 7:

Name: Diamond-Blackfan Anemia 7 57 75 29 13 6 73
Dba7 57 75
Anemia, Diamond-Blackfan, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in the first years of life


HPO:

32
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)

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, heart and bone marrow, and related phenotypes are osteopenia and scoliosis

UniProtKB/Swiss-Prot : 75 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:

57
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 Ribs Sternum Clavicles And Scapulae:
sprengel deformity

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

Human phenotypes related to Diamond-Blackfan Anemia 7:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 scoliosis 32 HP:0002650
3 hearing impairment 32 HP:0000365
4 osteoporosis 32 HP:0000939
5 cleft palate 32 HP:0000175
6 patent ductus arteriosus 32 HP:0001643
7 intrauterine growth retardation 32 HP:0001511
8 recurrent otitis media 32 HP:0000403
9 horseshoe kidney 32 occasional (7.5%) HP:0000085
10 sprengel anomaly 32 HP:0000912
11 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
12 polyhydramnios 32 HP:0001561
13 tetralogy of fallot 32 occasional (7.5%) HP:0001636
14 choanal atresia 32 HP:0000453
15 ventricular septal defect 32 HP:0001629
16 increased mean corpuscular volume 32 HP:0005518
17 vitamin d deficiency 32 HP:0100512
18 neutropenia 32 HP:0001875
19 triphalangeal thumb 32 HP:0001199
20 atresia of the external auditory canal 32 HP:0000413
21 secundum atrial septal defect 32 HP:0001684
22 macrocytic anemia 32 HP:0001972
23 short thumb 32 HP:0009778
24 small hypothenar eminence 32 HP:0010487
25 fetal distress 32 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 29 RPL11

Anatomical Context for Diamond-Blackfan Anemia 7

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

41
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:

75
# Symbol AA change Variation ID SNP ID
1 RPL11 p.Leu20His VAR_055448

ClinVar genetic disease variations for Diamond-Blackfan Anemia 7:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL11 NM_000975.4(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh37 Chromosome 1, 24020362: 24020362
2 RPL11 NM_000975.4(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh38 Chromosome 1, 23693872: 23693872
3 RPL11 RPL11, 2-BP DEL, 60CT deletion Pathogenic
4 RPL11 RPL11, 3-BP DEL, 482AGG deletion Pathogenic
5 RPL11 RPL11, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
6 RPL11 NM_000975.4(RPL11): c.476_477delAA (p.Lys159Argfs) deletion Pathogenic rs587777119 GRCh37 Chromosome 1, 24022367: 24022368
7 RPL11 NM_000975.4(RPL11): c.476_477delAA (p.Lys159Argfs) deletion Pathogenic rs587777119 GRCh38 Chromosome 1, 23695877: 23695878
8 RPL11 NM_000975.4(RPL11): c.204delT (p.Ile68Metfs) deletion Pathogenic rs587777120 GRCh37 Chromosome 1, 24020343: 24020343
9 RPL11 NM_000975.4(RPL11): c.204delT (p.Ile68Metfs) deletion Pathogenic rs587777120 GRCh38 Chromosome 1, 23693853: 23693853
10 RPL11 NM_000975.4(RPL11): c.42_48delACTTCGC (p.Leu15Serfs) deletion no interpretation for the single variant GRCh38 Chromosome 1, 23692644: 23692650
11 RPL11 NM_000975.4(RPL11): c.42_48delACTTCGC (p.Leu15Serfs) deletion no interpretation for the single variant GRCh37 Chromosome 1, 24019134: 24019140

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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