Metachromatic leukodystrophy due to saposin b deficiency

Preferred Label : Metachromatic leukodystrophy due to saposin b deficiency;

Symbol : MLDSAPB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Saposin b deficiency; Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prosaposin gene (PSAP, 176801.0001);

Laboratory abnormalities : Saposin B deficiency; Normal or mildly decreased arylsulfatase A activity; Submucosal macrophages filled with sphingolipids; Increased urinary sulfatides;

Prefixed ID : #249900;

Détails

Origin ID

249900;

UMLS CUI

C0268262;

Automatic exact mappings (from CISMeF team)
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
Broader ORDO disease(s)
- Metachromatic leukodystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Metachromatic leukodystrophy [ORDO Disease]
- Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency [ICD-11 More detail]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
DO Cross reference
- metachromatic leukodystrophy [DO Concept]
Genes related to phenotype
- Prosaposin [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- CNS demyelination [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Demyelination [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Loss of speech [HPO term]
- Mental deterioration [HPO term]
- Muscle weakness [HPO term]
- Peripheral demyelination [HPO term]
- Polyneuropathy [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
- Urinary incontinence [HPO term]
- Variable age at onset [HPO term]
- Variable expressivity [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Metachromatic leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder) [SNOMED CT concept]
- Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency [ICD-11 More detail]
- Sphingolipid activator protein 1 deficiency (disorder) [SNOMED CT concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH Supplementary Concept]
- metachromatic leukodystrophy due to saposin B deficiency [MeSH concept]
- sphingolipid activator protein 1 deficiency [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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