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DBA16
MCID: DMN040
MIFTS: 20
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Diamond-Blackfan Anemia 16 (DBA16)
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 16:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
based on report of 1 patient (last curated march 2017) diagnosed at birth HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Blood diseases Bone diseases Immune diseases |
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UniProtKB/Swiss-Prot :
73
Diamond-Blackfan anemia 16: 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.
MalaCards based summary : Diamond-Blackfan Anemia 16, is also known as dba16. An important gene associated with Diamond-Blackfan Anemia 16 is RPL27 (Ribosomal Protein L27). Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and atrial septal defect Disease Ontology : 12 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPL27 on chromosome 17q21.31. |
Human phenotypes related to Diamond-Blackfan Anemia 16:31
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MalaCards organs/tissues related to Diamond-Blackfan Anemia 16:40
Bone Marrow,
Bone
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Genes related to Diamond-Blackfan Anemia 16 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diamond-Blackfan Anemia 16:6
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 16.
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