DBA7
MCID: DMN024
MIFTS: 23
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Diamond-Blackfan Anemia 7 (DBA7)
Categories:
Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Diamond-Blackfan Anemia 7:
Characteristics: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 Diamond-Blackfan anemia, see DBA1 (105650). (612562)
MalaCards based summary : Diamond-Blackfan Anemia 7, is also known as dba7. An important gene associated with Diamond-Blackfan Anemia 7 is RPL11 (Ribosomal Protein L11). Affiliated tissues include bone, heart and bone marrow, and related phenotypes are osteopenia and scoliosis UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia 7: 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:612562Human phenotypes related to Diamond-Blackfan Anemia 7:32 (show all 26)
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MalaCards organs/tissues related to Diamond-Blackfan Anemia 7:41
Bone,
Heart,
Bone Marrow,
Kidney
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UniProtKB/Swiss-Prot genetic disease variations for Diamond-Blackfan Anemia 7:75
ClinVar genetic disease variations for Diamond-Blackfan Anemia 7:6 (show all 11)
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 7.
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