DBA12
MCID: DMN028
MIFTS: 20
|
Diamond-Blackfan Anemia 12 (DBA12)
Categories:
Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
|
|
MalaCards integrated aliases for Diamond-Blackfan Anemia 12:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
based on report of 1 patient (last curated november 2013) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Blood diseases Bone diseases Immune diseases |
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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615550Human phenotypes related to Diamond-Blackfan Anemia 12:32 (show all 6)
|
|
MalaCards organs/tissues related to Diamond-Blackfan Anemia 12:41
Bone,
Bone Marrow,
Heart
|
ClinVar genetic disease variations for Diamond-Blackfan Anemia 12:6
|
Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 12.
|
|
|