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

Glycogen storage disease due to liver phosphorylase kinase deficiency

Hereditary sensory and autonomic neuropathy with spastic paraplegia

PHKA2	(UniProt - OMIM)		CCT5	(UniProt - OMIM)
PHKG2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHKG2	(0.63)	CCT5

Citations in the biomedical literature:

Glycogen storage disease due to liver phosphorylase kinase deficiency		Hereditary sensory and autonomic neuropathy with spastic paraplegia
	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): - HSAN with spastic paraplegia

	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: - Type of inheritance: autosomal recessive

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

Hereditary sensory and autonomic neuropathy with spastic paraplegia
	Very frequent - Abnormal gait - Auto-aggressivity / auto-mutilation - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Dysautonomia / autonomous nervous sytem anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Insensitivity to pain - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Peripheral neuropathy Frequent - Nerve conduction abnormality Occasional - Osteomyelitis / osteitis / periostitis / spondylodisciitis
Glycogen storage disease due to liver phosphorylase kinase deficiency
(no data available)