DBA5
MCID: DMN018
MIFTS: 25

Diamond-Blackfan Anemia 5 (DBA5)

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

Aliases & Classifications for Diamond-Blackfan Anemia 5

MalaCards integrated aliases for Diamond-Blackfan Anemia 5:

Name: Diamond-Blackfan Anemia 5 56 73 29 13 6 71
Dba5 56 73
Anemia, Diamond-Blackfan, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
diamond-blackfan anemia 5:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 612528
OMIM Phenotypic Series 56 PS105650
MeSH 43 D029503
MedGen 41 C2675859
UMLS 71 C2675859

Summaries for Diamond-Blackfan Anemia 5

OMIM : 56 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, bone marrow and heart, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Diamond-Blackfan Anemia 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 ventricular septal defect 31 HP:0001629
6 hypospadias 31 HP:0000047
7 macrocytic anemia 31 HP:0001972
8 leukopenia 31 HP:0001882
9 reticulocytopenia 31 HP:0001896
10 erythroid hypoplasia 31 HP:0012133

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase (eada)

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

Clinical features from OMIM:

612528

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:

40
Bone, Bone Marrow, Heart

Publications for Diamond-Blackfan Anemia 5

Articles related to Diamond-Blackfan Anemia 5:

# Title Authors PMID Year
1
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 56 6
18535205 2008
2
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 56
23812780 2013
3
Diamond-Blackfan Anemia 6
20301769 2009

Variations for Diamond-Blackfan Anemia 5

ClinVar genetic disease variations for Diamond-Blackfan Anemia 5:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPL35A NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)SNV Pathogenic 13003 rs116840809 3:197681013-197681013 3:197954142-197954142
2 RPL35A NC_000003.11:g.(?_197677833)_(197682650_?)deldeletion Pathogenic 469500 3:197677833-197682650 3:197950962-197955779
3 RPL35A NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)SNV Pathogenic 537236 rs1553811551 3:197680921-197680921 3:197954050-197954050
4 RPL35A NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)SNV Pathogenic 13001 rs116840808 3:197678115-197678115 3:197951244-197951244
5 RPL35A NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)deletion Pathogenic 583098 rs1560120302 3:197678135-197678136 3:197951264-197951265
6 RPL35A NC_000003.11:g.(?_197677829)_(197682654_?)deldeletion Pathogenic 647968 3:197677829-197682654 3:197950958-197955783
7 RPL35A NM_000996.4(RPL35A):c.258del (p.Lys87fs)deletion Pathogenic 807674 3:197680966-197680966 3:197954095-197954095
8 RPL35A NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del)short repeat Likely pathogenic 13002 rs116840807 3:197678096-197678098 3:197951225-197951227
9 RPL35A NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp)SNV Uncertain significance 574750 rs1560123334 3:197680980-197680980 3:197954109-197954109
10 RPL35A NM_000996.4(RPL35A):c.309+4A>TSNV Uncertain significance 572707 rs1270507770 3:197681022-197681022 3:197954151-197954151

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

73
# Symbol AA change Variation ID SNP ID
1 RPL35A p.Val33Ile VAR_055447 rs116840808

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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