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Atypical hemolytic uremic syndrome with DGKE deficiency
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Leigh syndrome with cardiomyopathy
Pyruvate dehydrogenase E1-alpha deficiency
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Synonym(s):
- Atypical HUS with DGKE deficiency
- D-HUS with DGKE deficiency
- Hemolytic-uremic syndrome without diarrhea with DGKE deficiency
- aHUS with DGKE deficiency
Classification (Orphanet):
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DGKE P52429601440
No signs/symptoms info available.