MCID: DMN028
MIFTS: 19

Diamond-Blackfan Anemia 12

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

Aliases & Classifications for Diamond-Blackfan Anemia 12

MalaCards integrated aliases for Diamond-Blackfan Anemia 12:

Name: Diamond-Blackfan Anemia 12 53 71 28 69
Dba12 53 71

Characteristics:

OMIM:

53
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:

OMIM 53 615550
MeSH 41 D029503
UMLS 69 C3809888

Summaries for Diamond-Blackfan Anemia 12

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 DBA, see DBA1 (105650). (615550)

MalaCards based summary : Diamond-Blackfan Anemia 12, is also known as dba12, and has symptoms including ventricular septal defect, triphalangeal thumb and macrocytic anemia. An important gene associated with Diamond-Blackfan Anemia 12 is RPL15 (Ribosomal Protein L15). Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
ventricular septal defect

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

Skeletal Hands:
triphalangeal thumbs

Laboratory Abnormalities:
elevated erythrocyte adenosine deaminase activity


Clinical features from OMIM:

615550

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 activity 31 HP:0030270

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 28 RPL15

Anatomical Context for Diamond-Blackfan Anemia 12

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

38
Bone, Bone Marrow, Heart

Publications for Diamond-Blackfan Anemia 12

Variations for Diamond-Blackfan Anemia 12

ClinVar genetic disease variations for Diamond-Blackfan Anemia 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL15 NM_020345.3(NKIRAS1): c.-4414_-2022del deletion Pathogenic GRCh37 Chromosome 3, 23960157: 23962549

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
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
Content
Loading form....