DBA12
MCID: DMN028
MIFTS: 23

Diamond-Blackfan Anemia 12 (DBA12)

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

Aliases & Classifications for Diamond-Blackfan Anemia 12

MalaCards integrated aliases for Diamond-Blackfan Anemia 12:

Name: Diamond-Blackfan Anemia 12 57 12 72 29 6 70
Dba12 57 12 72
Rpl15-Related Diamond-Blackfan Anemia 12
Anemia, Diamond-Blackfan, Type 12 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated november 2013)


HPO:

31
diamond-blackfan anemia 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111882
OMIM® 57 615550
OMIM Phenotypic Series 57 PS105650
MeSH 44 D029503
UMLS 70 C3809888

Summaries for Diamond-Blackfan Anemia 12

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 DBA, see DBA1 (105650). (615550) (Updated 05-Apr-2021)

MalaCards based summary : Diamond-Blackfan Anemia 12, also known as dba12, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 12 is RPL15 (Ribosomal Protein L15). Affiliated tissues include bone marrow and bone, and related phenotypes are ventricular septal defect and triphalangeal thumb

Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL15 on chromosome 3p24.2.

UniProtKB/Swiss-Prot : 72 Diamond-Blackfan anemia 12: 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 12

Symptoms & Phenotypes for Diamond-Blackfan Anemia 12

Human phenotypes related to Diamond-Blackfan Anemia 12:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 HP:0001629
2 triphalangeal thumb 31 HP:0001199
3 macrocytic anemia 31 HP:0001972
4 reticulocytopenia 31 HP:0001896
5 normochromic anemia 31 HP:0001895
6 elevated red cell adenosine deaminase level 31 HP:0030270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
ventricular septal defect

Skeletal Hands:
triphalangeal thumbs

Hematology:
macrocytic anemia
reticulocytopenia
normochromic anemia
reduced or absent erythroid precursors in bone marrow

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase activity

Clinical features from OMIM®:

615550 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diamond-Blackfan Anemia 12

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 12

Genetic Tests for Diamond-Blackfan Anemia 12

Genetic tests related to Diamond-Blackfan Anemia 12:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 12 29 RPL15

Anatomical Context for Diamond-Blackfan Anemia 12

MalaCards organs/tissues related to Diamond-Blackfan Anemia 12:

40
Bone Marrow, Bone

Publications for Diamond-Blackfan Anemia 12

Articles related to Diamond-Blackfan Anemia 12:

# Title Authors PMID Year
1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 57 6
23812780 2013
2
Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center. 61
33399731 2020

Variations for Diamond-Blackfan Anemia 12

ClinVar genetic disease variations for Diamond-Blackfan Anemia 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKIRAS1 , RPL15 NG_033850.2(RPL15):g.7123_9515del Deletion Pathogenic 88980 GRCh37: 3:23960156-23962548
GRCh38: 3:23918665-23921057
2 NKIRAS1 , RPL15 NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) SNV Likely pathogenic 870411 GRCh37: 3:23960691-23960691
GRCh38: 3:23919200-23919200
3 NKIRAS1 , RPL15 NM_002948.5(RPL15):c.536A>G (p.Lys179Arg) SNV Uncertain significance 1030605 GRCh37: 3:23960913-23960913
GRCh38: 3:23919422-23919422
4 NKIRAS1 , RPL15 NM_001253383.3(RPL15):c.172+5G>A SNV Uncertain significance 626158 rs369956511 GRCh37: 3:23959527-23959527
GRCh38: 3:23918036-23918036

Expression for Diamond-Blackfan Anemia 12

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 12.

Pathways for Diamond-Blackfan Anemia 12

GO Terms for Diamond-Blackfan Anemia 12

Sources for Diamond-Blackfan Anemia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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