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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Essential fructosuria
Familial hypocalciuric hypercalcemia type 3

KHK AP2S1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KHK
(0.72)
AP2S1



Citations in the biomedical literature:


Essential fructosuria
KHK
Familial hypocalciuric hypercalcemia type 3
AP2S1



Essential fructosuria
Familial hypocalciuric hypercalcemia type 3

Synonym(s):
- Fructokinase deficiency
- Ketohexokinase deficiency

Synonym(s):
- FHH type 3

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C538068
External references:
1 OMIM reference -
1 MeSH reference: C537147

No signs/symptoms info available.