ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Myotonia fluctuans

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		Myotonia fluctuans
	Synonym(s): (no synonyms)		Synonym(s): - Exercise-induced delayed-onset myotonia - Fluctuating 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: unknown 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

Myotonia fluctuans
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Autosomal dominant inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Hypertonia / spasticity / rigidity / stiffness - Myotonia Frequent - Abnormal gait - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia Occasional - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Dystonia / torticollis / writer's cramp / blepharospasms - Hyperkalemia - Muscle hypertrophy - Muscle weakness / flaccidity - Muscular edema - Myalgia / muscular pain - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)