severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
MONDO:0014206Mondo
Findings
No curated finding names severe early-onset pulmonary alveolar proteinosis due to MARS 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 · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
27 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.
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- 1 of 1 reported patient
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- ThrombocytosisHPOHP:0001894
- 1 of 1 reported patient
- VomitingHPOHP:0002013
- 1 of 1 reported patient
Show the remaining 15
- DyspneaHPOHP:0002094
- 28 of 29 reported patients
- HepatomegalyHPOHP:0002240
- 25 of 29 reported patients
- Failure to thriveHPOHP:0001508
- 23 of 30 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 20 of 29 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 12 of 18 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 19 of 29 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.
- MARS1HGNC:6898
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- Also called
- hereditary pulmonary alveolar proteinosis with hepatic involvementinterstitial lung and liver diseasePAP, Reunion island typepulmonary alveolar proteinosis, Reunion island type