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Primary Fanconi syndrome
3 OMIM references -
2 associated genes
10 connected diseases
No signs/symptoms info
Disease Type of connection
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Bifunctional enzyme deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Acatalasemia
Familial isolated dilated cardiomyopathy
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Leukoencephalopathy - dystonia - motor neuropathy
Synonym(s):
- Primary Fanconi renotubular syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EHHADH Q08426607037
SLC34A1 Q06495182309
No signs/symptoms info available.