surfactant metabolism dysfunction, pulmonary, 4
MONDO:0010424Mondo
Findings
No curated finding names surfactant metabolism dysfunction, pulmonary, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Decreased DLCOHPOHP:0045051
- 1 of 1 reported patient · Juvenile onset
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Ground-glass opacificationHPOHP:0025179
- 2 of 2 reported patients · Juvenile onset
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 1 of 2 reported patients · Juvenile onset
- Reduced forced vital capacityHPOHP:0032341
- 1 of 2 reported patients · Juvenile onset
- Intraalveolar phospholipid accumulationHPOHP:0006517
- Restrictive ventilatory defectHPOHP:0002091
- TachypneaHPOHP:0002789
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.
- CSF2RAHGNC:2435
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: surfactant metabolism dysfunction, pulmonary, 4
- Also called
- surfactant metabolism dysfunction, pulmonary, type 4