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Familial drusen
2 OMIM references -
2 associated genes
37 connected diseases
No signs/symptoms info
Disease Type of connection
Dense deposit disease
Atypical hemolytic uremic syndrome with H factor anomaly
Immunodeficiency with factor H anomaly
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Atypical hemolytic uremic syndrome with C3 anomaly
Complement component 3 deficiency
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Congenital analbuminemia
Sorsby's fundus dystrophy
Acute promyelocytic leukemia
Alternating hemiplegia of childhood
Aneurysm - osteoarthritis syndrome
Benign paroxysmal torticollis of infancy
Combined pituitary hormone deficiencies, genetic forms
Dentatorubral pallidoluysian atrophy
Early infantile epileptic encephalopathy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Familial thoracic aortic aneurysm and aortic dissection
Gray platelet syndrome
Hypocalcemic vitamin D-resistant rickets
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
LEOPARD syndrome
Noonan syndrome
Panhypopituitarism
Pilocytic astrocytoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Atypical hemolytic uremic syndrome with I factor anomaly
Atypical hemolytic uremic syndrome with anti-factor H antibodies
C3 glomerulonephritis
Immunodeficiency with factor I anomaly
Autosomal recessive hypophosphatemic rickets
Synonym(s):
- DHRD
- Dominant drusen
- Dominant radial drusen
- Doyne honeycomb retinal dystrophy
- Malattia leventinese
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CFH P08603134370
EFEMP1 Q12805601548
No signs/symptoms info available.