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MCID: DMN020
MIFTS: 21
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Diamond-Blackfan Anemia 8
Categories:
Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Blood diseases
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MalaCards integrated aliases for Diamond-Blackfan Anemia 8:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
based on reports of 3 patients (last curated december 2016) some patients exhibit no dysmorphic features HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Blood diseases |
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OMIM
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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). (612563)
MalaCards based summary : Diamond-Blackfan Anemia 8, is also known as dba8. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7). Affiliated tissues include bone, bone marrow and heart, and related phenotypes are thick upper lip vermilion and hypertelorism UniProtKB/Swiss-Prot : 75 Diamond-Blackfan anemia 8: 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:612563Human phenotypes related to Diamond-Blackfan Anemia 8:32 (show all 8)
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MalaCards organs/tissues related to Diamond-Blackfan Anemia 8:41
Bone,
Bone Marrow,
Heart,
Eye
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Genes related to Diamond-Blackfan Anemia 8 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diamond-Blackfan Anemia 8:6
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 8.
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