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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Hypokalemic periodic paralysis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis

CACNA1S SLC34A1
KCNE3 SLC9A3R1
SCN4A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SCN4A
(0.63)
SLC9A3R1



Citations in the biomedical literature:


Hypokalemic periodic paralysis
CACNA1S KCNE3 SCN4A
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1 SLC9A3R1



Hypokalemic periodic paralysis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Synonym(s):
- Westphall disease

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D020514
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.