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DBA17
MCID: DMN039
MIFTS: 20
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Diamond-Blackfan Anemia 17 (DBA17)
Categories:
Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Diamond-Blackfan Anemia 17:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 patient (last curated march 2017) diagnosed at 2 months of age Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Cancer diseases Anatomical: Blood diseases Immune diseases Neuronal diseases Bone diseases |
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UniProtKB/Swiss-Prot: 73 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 17, is also known as dba17. An important gene associated with Diamond-Blackfan Anemia 17 is RPS27 (Ribosomal Protein S27). Affiliated tissues include bone marrow, skin and bone, and related phenotypes are anemia and hyperpigmentation of the skin Disease Ontology: 11 A Diamond-Blackfan anemia that has material basis in heterozygous mutation in RPS27 on chromosome 1q21.3. |
Human phenotypes related to Diamond-Blackfan Anemia 17:30
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Organs/tissues related to Diamond-Blackfan Anemia 17:
MalaCards :
Bone Marrow,
Skin,
Bone
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Articles related to Diamond-Blackfan Anemia 17:
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Genes related to Diamond-Blackfan Anemia 17 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diamond-Blackfan Anemia 17:5
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 17.
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