MCID: DMN018
MIFTS: 22

Diamond-Blackfan Anemia 5

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

Aliases & Classifications for Diamond-Blackfan Anemia 5

MalaCards integrated aliases for Diamond-Blackfan Anemia 5:

Name: Diamond-Blackfan Anemia 5 57 75 29 13 6 73
Dba5 57 75
Anemia, Diamond-Blackfan, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
some patients are steroid responsive
subclinical presentation in some patients


HPO:

32
diamond-blackfan anemia 5:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Diamond-Blackfan Anemia 5

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). (612528)

MalaCards based summary : Diamond-Blackfan Anemia 5, also known as dba5, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 5 is RPL35A (Ribosomal Protein L35a). Affiliated tissues include bone, heart and bone marrow, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia 5: 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 5

Symptoms & Phenotypes for Diamond-Blackfan Anemia 5

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

Hematology:
anemia, normochromic macrocytic
reticulocytopenia
normocellular marrow with paucity of erythroid precursors


Clinical features from OMIM:

612528

Human phenotypes related to Diamond-Blackfan Anemia 5:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 global developmental delay 32 HP:0001263
4 short stature 32 HP:0004322
5 hypospadias 32 HP:0000047
6 ventricular septal defect 32 HP:0001629
7 macrocytic anemia 32 HP:0001972
8 leukopenia 32 HP:0001882
9 reticulocytopenia 32 HP:0001896
10 erythroid hypoplasia 32 HP:0012133

Drugs & Therapeutics for Diamond-Blackfan Anemia 5

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 5

Genetic Tests for Diamond-Blackfan Anemia 5

Genetic tests related to Diamond-Blackfan Anemia 5:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 5 29 RPL35A

Anatomical Context for Diamond-Blackfan Anemia 5

MalaCards organs/tissues related to Diamond-Blackfan Anemia 5:

41
Bone, Heart, Bone Marrow

Publications for Diamond-Blackfan Anemia 5

Variations for Diamond-Blackfan Anemia 5

UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 5:

75
# Symbol AA change Variation ID SNP ID
1 RPL35A p.Val33Ile VAR_055447 rs116840808

ClinVar genetic disease variations for Diamond-Blackfan Anemia 5:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL35A NM_000996.2(RPL35A): c.97G> A (p.Val33Ile) single nucleotide variant Pathogenic rs116840808 GRCh37 Chromosome 3, 197678115: 197678115
2 RPL35A NM_000996.2(RPL35A): c.97G> A (p.Val33Ile) single nucleotide variant Pathogenic rs116840808 GRCh38 Chromosome 3, 197951244: 197951244
3 RPL35A NM_000996.2(RPL35A): c.82_84delCTT (p.Leu28del) deletion Likely pathogenic rs116840807 GRCh37 Chromosome 3, 197678100: 197678102
4 RPL35A NM_000996.2(RPL35A): c.82_84delCTT (p.Leu28del) deletion Likely pathogenic rs116840807 GRCh38 Chromosome 3, 197951229: 197951231
5 RPL35A NM_000996.2(RPL35A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs116840809 GRCh37 Chromosome 3, 197681013: 197681013
6 RPL35A NM_000996.2(RPL35A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs116840809 GRCh38 Chromosome 3, 197954142: 197954142
7 RPL35A NM_000996.2(RPL35A): c.266G> A (p.Arg89Gln) single nucleotide variant Benign/Likely benign rs145244860 GRCh38 Chromosome 3, 197954104: 197954104
8 RPL35A NM_000996.2(RPL35A): c.266G> A (p.Arg89Gln) single nucleotide variant Benign/Likely benign rs145244860 GRCh37 Chromosome 3, 197680975: 197680975
9 RPL35A NC_000003.12: g.(?_197950962)_(197955779_?)del deletion Pathogenic GRCh38 Chromosome 3, 197950962: 197955779
10 RPL35A NC_000003.12: g.(?_197950962)_(197955779_?)del deletion Pathogenic GRCh37 Chromosome 3, 197677833: 197682650
11 RPL35A NM_000996.4(RPL35A): c.212G> A (p.Trp71Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 197954050: 197954050
12 RPL35A NM_000996.4(RPL35A): c.212G> A (p.Trp71Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 197680921: 197680921

Expression for Diamond-Blackfan Anemia 5

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 5.

Pathways for Diamond-Blackfan Anemia 5

GO Terms for Diamond-Blackfan Anemia 5

Sources for Diamond-Blackfan Anemia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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