alkaline ceramidase 3 deficiency
MONDO:0044718Mondo
Findings
No curated finding names alkaline ceramidase 3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients · Infantile onset
- Developmental stagnationHPOHP:0007281
- 2 of 2 reported patients · Infantile onset
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Joint contractureHPOHP:0034392
- 2 of 2 reported patients
- LeukodystrophyHPOHP:0002415
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
Show the remaining 11
- Neurogenic bladderHPOHP:0000011
- 2 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 2 reported patients
- Peripheral neuropathyHPOHP:0009830
- 2 of 2 reported patients
- Prominent noseHPOHP:0000448
- 2 of 2 reported patients
- Relative macrocephalyHPOHP:0004482
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACER3HGNC:16066
- Strong · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: alkaline ceramidase 3 deficiency
- Also called
- ACER3-related early childhood-onset progressive leukodystrophyleukodystrophy due to alkaline ceramidase 3 deficiency