MCID: DMN021
MIFTS: 25

Diamond-Blackfan Anemia 6

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

Aliases & Classifications for Diamond-Blackfan Anemia 6

MalaCards integrated aliases for Diamond-Blackfan Anemia 6:

Name: Diamond-Blackfan Anemia 6 53 71 13
Aase-Smith Syndrome Ii 53 71
Aase Syndrome 71 69
Dba6 53 71
Diamond-Blackfan Anemia 1 69
Aase Smith Syndrome 2 69

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
age at diagnosis is usually in the first year of life
most patients are steroid responsive


HPO:

31
diamond-blackfan anemia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 6

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). (612561)

MalaCards based summary : Diamond-Blackfan Anemia 6, also known as aase-smith syndrome ii, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia, and has symptoms including hypertelorism, failure to thrive and cleft palate. An important gene associated with Diamond-Blackfan Anemia 6 is RPL5 (Ribosomal Protein L5). Affiliated tissues include bone, heart and bone marrow.

UniProtKB/Swiss-Prot : 71 Diamond-Blackfan anemia 6: 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 6

Symptoms & Phenotypes for Diamond-Blackfan Anemia 6

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
cleft palate
micrognathia
bifid uvula
cleft lip
mandibular hypoplasia with retrognathia

Skeletal Hands:
triphalangeal thumbs
hypoplastic thumbs
small extra thumbs
long proximal thumb phalanges

Hematology:
increased fetal hemoglobin
anemia, normochromic macrocytic

Growth Other:
failure to thrive
growth retardation

Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
tetralogy of fallot
ventricular septal defect
ventricular hypertrophy
more
Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)
iron overload (in some patients)

Respiratory Airways:
tracheomalacia (some patients)


Clinical features from OMIM:

612561

Human phenotypes related to Diamond-Blackfan Anemia 6:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 failure to thrive 31 HP:0001508
3 cleft palate 31 frequent (33%) HP:0000175
4 micrognathia 31 frequent (33%) HP:0000347
5 patent ductus arteriosus 31 HP:0001643
6 growth delay 31 HP:0001510
7 atrial septal defect 31 very rare (1%) HP:0001631
8 mitral regurgitation 31 HP:0001653
9 mitral valve prolapse 31 HP:0001634
10 tetralogy of fallot 31 HP:0001636
11 ventricular septal defect 31 HP:0001629
12 persistence of hemoglobin f 31 frequent (33%) HP:0011904
13 increased mean corpuscular volume 31 HP:0005518
14 tracheomalacia 31 HP:0002779
15 triphalangeal thumb 31 very rare (1%) HP:0001199
16 cleft upper lip 31 frequent (33%) HP:0000204
17 bifid uvula 31 HP:0000193
18 macrocytic anemia 31 HP:0001972
19 short thumb 31 HP:0009778
20 ventricular hypertrophy 31 HP:0001714

Drugs & Therapeutics for Diamond-Blackfan Anemia 6

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 6

Genetic Tests for Diamond-Blackfan Anemia 6

Anatomical Context for Diamond-Blackfan Anemia 6

MalaCards organs/tissues related to Diamond-Blackfan Anemia 6:

38
Bone, Heart, Bone Marrow

Publications for Diamond-Blackfan Anemia 6

Variations for Diamond-Blackfan Anemia 6

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 6:

71
# Symbol AA change Variation ID SNP ID
1 RPL5 p.Gly140Ser VAR_055450 rs121434406
2 RPL5 p.Ala285Val VAR_055451

ClinVar genetic disease variations for Diamond-Blackfan Anemia 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh37 Chromosome 1, 93300390: 93300390
2 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
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 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
7 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic

Expression for Diamond-Blackfan Anemia 6

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 6.

Pathways for Diamond-Blackfan Anemia 6

GO Terms for Diamond-Blackfan Anemia 6

Sources for Diamond-Blackfan Anemia 6

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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