Krabbe disease due to saposin A deficiency
MONDO:0012720Mondo
Findings
No curated finding names Krabbe disease due to saposin A 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
- Death in infancy · Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- Central apneaHPOHP:0002871
- 1 of 1 reported patient
- Cerebral dysmyelinationHPOHP:0007266
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global brain atrophyHPOHP:0002283
- 1 of 1 reported patient
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 2 of 2 reported patients
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Increased CSF protein concentrationHPOHP:0002922
- 2 of 2 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- Progressive neurologic deteriorationHPOHP:0002344
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
Show the remaining 4
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
- Vegetative stateHPOHP:0031358
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
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.
- PSAPHGNC:9498
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: Krabbe disease due to saposin A deficiency
- Also called
- Krabbe disease, atypicalKrabbe disease, atypical due to saposin A deficiencyKrabbe disease, atypical, due to saposin A deficiency