ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Lafora disease

Fatal infantile encephalopathy-pulmonary hypertension syndrome

EPM2A	(UniProt - OMIM)		NFU1	(UniProt - OMIM)
NHLRC1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPM2A	(0.79)	NFU1

Citations in the biomedical literature:

Lafora disease		Fatal infantile encephalopathy-pulmonary hypertension syndrome
	Synonym(s): - Progressive myoclonic epilepsy type 2		Synonym(s): - Lipoic acid synthase deficiency

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D020192		External references: No OMIM references No MeSH references

No signs/symptoms info available.