ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Glycogen storage disease due to liver phosphorylase kinase deficiency

X-linked Charcot-Marie-Tooth disease type 4

PHKA2	(UniProt - OMIM)		AIFM1	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	AIFM1

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		X-linked Charcot-Marie-Tooth disease type 4
	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): - CMT4X - CMTX4 - Cowchock syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic 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: - Type of inheritance: x-linked recessive

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

X-linked Charcot-Marie-Tooth disease type 4
	Very frequent - Areflexia / hyporeflexia - Flat palm - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Nerve conduction abnormality - Peripheral neuropathy - Pes cavus - Sensitive trouble / deficit - X-linked recessive inheritance Frequent - Hearing loss / hypoacusia / deafness - Insensitivity to pain - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Motor deficit / trouble - Scoliosis Occasional - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Elocution disorders / dysarthria / dysphonia - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)