ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Acetazolamide-responsive myotonia

SLC34A1	(UniProt - OMIM)		SCN4A	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Acetazolamide-responsive myotonia
	Synonym(s): (no synonyms)		Synonym(s): - ACZ-responsive congenital myotonia - ACZ-responsive myotonia - Acetazolamide-responsive congenital myotonia - Myotonia - painful contractions - Painful congenital myotonia - Painful myotonia

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

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

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

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

Acetazolamide-responsive myotonia
	Very frequent - Autosomal dominant inheritance - Hypertonia / spasticity / rigidity / stiffness - Myalgia / muscular pain - Myotonia Frequent - Abnormal EMG / electromyogram / electropmyography - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Thoracic / chest pain Occasional - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypothyroidy - Muscle hypertrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)