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DBA15
MCID: DMN043
MIFTS: 32
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Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis (DBA15)
Categories:
Blood diseases, Genetic diseases
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MalaCards integrated aliases for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy two unrelated patients have been reported both mutations occurred de novo HPO:31
diamond-blackfan anemia 15 with mandibulofacial dysostosis:
Inheritance autosomal dominant inheritance Onset and clinical course infantile onset Classifications: |
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UniProtKB/Swiss-Prot :
73
Diamond-Blackfan anemia 15, with mandibulofacial dysostosis: 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 15 with Mandibulofacial Dysostosis, also known as dba15, is related to dysostosis and klippel-feil syndrome. An important gene associated with Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis is RPS28 (Ribosomal Protein S28), and among its related pathways/superpathways are Influenza Viral RNA Transcription and Replication and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Related phenotypes are global developmental delay and microtia Disease Ontology : 12 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has material basis in heterozygous mutation in RPS28 on chromosome 19p13.2. |
Diseases in the Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis family:
Diseases related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:(showing 6, show less)
Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:
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Human phenotypes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:31 (showing 16, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:606164GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:26 (showing 2, show less)
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Articles related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:(showing 4, show less)
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Genes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis (3 elite genes):(showing 3, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis:6 (showing 4, show less)
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Search
GEO
for disease gene expression data for Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis.
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Pathways related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:(showing 2, show less)
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Cellular components related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:(showing 6, show less)
Biological processes related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:(showing 7, show less)
Molecular functions related to Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis according to GeneCards Suite gene sharing:(showing 1, show less)
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