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GTR Home > Conditions/Phenotypes > Alkaline ceramidase 3 deficiency

Alkaline ceramidase 3 deficiency

Synonyms
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET

Summary

A rare genetic disorder with characteristics of infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination. [from SNOMEDCT_US]

Available tests

1 test is in the database for this condition.

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Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APHC, PHCA, PLDECO, ACER3
    Summary: alkaline ceramidase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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