Leukodystrophy, progressive, early childhood-onset

Preferred Label : Leukodystrophy, progressive, early childhood-onset;

Symbol : PLDECO;

CISMeF acronym : PLDECO;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alkaline ceramidase 3 gene (ACER3, 617036.0001);

Laboratory abnormalities : Increased plasma levels of complex sphingolipids; Increased plasma levels of certain ceramides;

Prefixed ID : #617762;

Details

Origin ID

617762;

UMLS CUI

C4540358;

CISMeF manual mappings
- Alkaline ceramidase 3 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Alkaline ceramidase 3 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Developmental regression [HPO term]
- Developmental stagnation [HPO term]
- Dystonia [HPO term]
- Flexion contracture [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Leukodystrophy [HPO term]
- Low-set ears [HPO term]
- Neurogenic bladder [HPO term]
- Optic disc pallor [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Prominent nose [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Alkaline ceramidase 3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alkaline ceramidase 3 deficiency [ORDO Disease]
- Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) [SNOMED CT concept]

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