ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

COMMON GENES: 1

2 associated genes
No signs/symptoms info

Encephalopathy due to prosaposin deficiency

Metachromatic leukodystrophy, late infantile form

PSAP	(UniProt - OMIM)		ARSA	(UniProt - OMIM)
			PSAP	(UniProt - OMIM)

Citations in the biomedical literature:

Encephalopathy due to prosaposin deficiency		Metachromatic leukodystrophy, late infantile form
	Synonym(s): - Combined prosaposin deficiency		Synonym(s): - Arylsulfatase A deficiency, late infantile form - MLD, late infantile form

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

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

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

Encephalopathy due to prosaposin deficiency
	Very frequent - Abnormal eye movements / oculomotor disorder - Autosomal recessive inheritance - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Myoclonus / fasciculations - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly
Metachromatic leukodystrophy, late infantile form
(no data available)