MCID: DMN028
MIFTS: 20

Diamond-Blackfan Anemia 12

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

Aliases & Classifications for Diamond-Blackfan Anemia 12

MalaCards integrated aliases for Diamond-Blackfan Anemia 12:

Name: Diamond-Blackfan Anemia 12 57 75 29 6 73
Dba12 57 75
Anemia, Diamond-Blackfan, Type 12 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
diamond-blackfan anemia 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615550
MeSH 44 D029503
UMLS 73 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)

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

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 triphalangeal thumb 32 HP:0001199
3 macrocytic anemia 32 HP:0001972
4 reticulocytopenia 32 HP:0001896
5 normochromic anemia 32 HP:0001895
6 elevated red cell adenosine deaminase activity 32 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 29 RPL15

Anatomical Context for Diamond-Blackfan Anemia 12

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

41
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
2 RPL15 NM_020345.3(NKIRAS1): c.-4414_-2022del deletion Pathogenic GRCh38 Chromosome 3, 23918666: 23921058
3 RPL15 NM_020345.3(NKIRAS1): c.-4414_-2022del deletion Pathogenic NCBI36 Chromosome 3, 23935161: 23937553

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 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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