Metachromatic leukodystrophy

Preferred Label : Metachromatic leukodystrophy;

Symbol : MLD;

CISMeF acronym : MLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metachromatic leukoencephalopathy; Cerebral sclerosis, diffuse, metachromatic form; Sulfatide lipidosis; Arylsulfatase a deficiency; Arsa deficiency; Cerebroside sulfatase deficiency;

Included titles and symbols : Pseudoarylsulfatase a deficiency; Metachromatic leukodystrophy, late infantile; Metachromatic leukodystrophy, juvenile; Metachromatic leukodystrophy, adult;

Description : The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (249900) and multiple sulfatase deficiency or juvenile sulfatidosis (272200), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arylsulfatase A gene (ARSA, 607574.0003);

Laboratory abnormalities : Metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs; Decreased arylsulfatase A (ARSA) activity in urine, leukocytes, fibroblasts; Increased CSF protein; Increased urinary sulfatide excretion;

Prefixed ID : #250100;

Details

Origin ID

250100;

UMLS CUI

C0023522;

Automatic exact mappings (from CISMeF team)
- ARSA wt Allele [NCIt concept]
- DEGS1 wt Allele [NCIt concept]
- Deficiency of arylsulfatase (disorder) [SNOMED CT concept]
- Juvenile metachromatic leukodystrophy [ICD-11 More detail]
- Late infantile metachromatic leukodystrophy [ICD-11 More detail]
- Milliliter per Day [NCIt concept]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- delta 4-desaturase, sphingolipid 1 [HGNC gene]
- leukodystrophy, metachromatic, juvenile [MeSH concept]
Currated CISMeF NLP mapping
- Adult metachromatic leukodystrophy [ICD-11 More detail]
- Arylsulfatase A deficiency (disorder) [SNOMED CT concept]
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [PASCAL descriptor]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy, adult type (disorder) [SNOMED CT concept]
- Pseudoarylsulfatase A deficiency [ORDO Disease]
- arylsulfatase A deficiency [MeSH concept]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- leukodystrophy, metachromatic, adult [MeSH concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy, nos [SNOMED Notion]
- pseudoarylsulfatase A deficiency [MeSH concept]
- pseudoarylsulfatase A deficiency [MeSH Supplementary Concept]
DO Cross reference
- metachromatic leukodystrophy [DO Concept]
Genes related to phenotype
- Arylsulfatase a [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Adolescent onset [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bulbar palsy [HPO term]
- Cholecystitis [HPO term]
- Chorea [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Delusions [HPO term]
- Demyelination [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- EMG: neuropathic changes [HPO term]
- Emotional lability [HPO term]
- Gait disturbance [HPO term]
- Gallbladder dysfunction [HPO term]
- Generalized hypotonia [HPO term]
- Hallucinations [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Intellectual disability [HPO term]
- Loss of speech [HPO term]
- Mental deterioration [HPO term]
- Optic atrophy [HPO term]
- Peripheral demyelination [HPO term]
- Poor school performance [HPO term]
- Progressive peripheral neuropathy [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Tetraplegia [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Metachromatic leukodystrophy [ORDO Disease]
- Pseudoarylsulfatase A deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic Leukodystrophy [NCIt concept]
- Metachromatic leucodystrophy (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy [MedDRA Preferred Term]
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy [ICD-11 Sub-sub category]
- Metachromatic leukodystrophy [PASCAL descriptor]
- leukodystrophy, metachromatic [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH concept]
- metachromatic leukodystrophy [Radlex concept]
- metachromatic leukodystrophy [DO Concept]
- metachromatic leukodystrophy [Disease (Nov.)]
- metachromatic leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Arylsulfatase A deficiency [ICD-11 More detail]
- infant metachromatic leukodystrophy [Disease (Nov.)]

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