MCID: DMN021
MIFTS: 25

Diamond-Blackfan Anemia 6

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

Aliases & Classifications for Diamond-Blackfan Anemia 6

MalaCards integrated aliases for Diamond-Blackfan Anemia 6:

Name: Diamond-Blackfan Anemia 6 57 75 13
Aase-Smith Syndrome Ii 57 75
Aase Syndrome 75 73
Dba6 57 75
Anemia, Diamond-Blackfan, Type 6 40
Diamond-Blackfan Anemia 1 73
Aase Smith Syndrome 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Diamond-Blackfan Anemia 6

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). (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. An important gene associated with Diamond-Blackfan Anemia 6 is RPL5 (Ribosomal Protein L5). Affiliated tissues include bone, heart and bone marrow, and related phenotypes are hypertelorism and failure to thrive

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 failure to thrive 32 HP:0001508
3 cleft palate 32 frequent (33%) HP:0000175
4 micrognathia 32 frequent (33%) HP:0000347
5 patent ductus arteriosus 32 HP:0001643
6 growth delay 32 HP:0001510
7 atrial septal defect 32 very rare (1%) HP:0001631
8 mitral regurgitation 32 HP:0001653
9 mitral valve prolapse 32 HP:0001634
10 tetralogy of fallot 32 HP:0001636
11 ventricular septal defect 32 HP:0001629
12 persistence of hemoglobin f 32 frequent (33%) HP:0011904
13 increased mean corpuscular volume 32 HP:0005518
14 tracheomalacia 32 HP:0002779
15 triphalangeal thumb 32 very rare (1%) HP:0001199
16 cleft upper lip 32 frequent (33%) HP:0000204
17 bifid uvula 32 HP:0000193
18 macrocytic anemia 32 HP:0001972
19 short thumb 32 HP:0009778
20 ventricular hypertrophy 32 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:

41
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:

75
# 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
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 NM_000969.3(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
2 RPL5 NM_000969.3(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh38 Chromosome 1, 92833452: 92833452
3 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
4 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
5 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
6 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
7 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh37 Chromosome 1, 93300390: 93300390
8 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh38 Chromosome 1, 92834833: 92834833
9 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
10 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh38 Chromosome 1, 92837592: 92837592
11 RPL5 NM_000969.4(RPL5): c.118G> A (p.Asp40Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 93299146: 93299146
12 RPL5 NM_000969.4(RPL5): c.118G> A (p.Asp40Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 92833589: 92833589

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

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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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