ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Phosphoenolpyruvate carboxykinase 1 deficiency

X-linked sideroblastic anemia - ataxia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PCK1	(0.63)	ABCB7

Citations in the biomedical literature:

Phosphoenolpyruvate carboxykinase 1 deficiency		X-linked sideroblastic anemia - ataxia
	Synonym(s): - PEPCK1 deficiency		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

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

X-linked sideroblastic anemia - ataxia
	Very frequent - Anaemia - Ataxia / incoordination / trouble of the equilibrium - Nystagmus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Hypereflexia - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder Occasional - Hypotonia - Intrauterine growth retardation - Scoliosis - Strabismus / squint
Phosphoenolpyruvate carboxykinase 1 deficiency
(no data available)