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Metachromatic leukodystrophy, adult form

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Gaucher disease type 2

1 OMIM reference -
1 associated gene
15 signs/symptoms

Metachromatic leukodystrophy, adult form

Gaucher disease type 2

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PSAP	(0.63)	GBA

Citations in the biomedical literature:

Metachromatic leukodystrophy, adult form		Gaucher disease type 2
	Synonym(s): - Arylsulfatase A deficiency, adult form - MLD, adult form		Synonym(s): - Acute neuronopathic Gaucher disease - Infantile cerebral Gaucher disease

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

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

	Epidemiological data: (no data available)		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: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Gaucher disease type 2
	Very frequent - Abnormal eye movements / oculomotor disorder - Early death / lethality - Hepatomegaly / liver enlargement (excluding storage disease) - Hypertonia / spasticity / rigidity / stiffness - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Respiratory rhythm disorder - Splenomegaly - Strabismus / squint - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Cough - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
Metachromatic leukodystrophy, adult form
(no data available)