ODCs

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

PROTEIN INTERACTIONS: 1

3 OMIM references -
4 associated genes
12 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

Juvenile amyotrophic lateral sclerosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	FUS

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		Juvenile amyotrophic lateral sclerosis
	Synonym(s): - GSD due to liver phosphorylase kinase deficiency - GSD type 9A - GSD type 9C - GSD type IXa - GSD type IXc - Glycogen storage disease type 9A - Glycogen storage disease type 9C - Glycogen storage disease type IXa - Glycogen storage disease type IXc - Glycogenosis due to liver phosphorylase kinase deficiency - Glycogenosis type 9A - Glycogenosis type 9C - Glycogenosis type IXa - Glycogenosis type IXc - XLG		Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 3 OMIM references - No MeSH references

Juvenile amyotrophic lateral sclerosis
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Autosomal recessive inheritance - Elocution disorders / dysarthria / dysphonia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Pyramidal syndrome Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pseudobulbar signs / spasmodic laugh and cry Occasional - Bladder and ureter anomalies - Sensitive trouble / deficit
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)