hypoproteinemia, hypercatabolic
MONDO:0009434Mondo
Findings
No curated finding names hypoproteinemia, hypercatabolic 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
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- Decreased circulating beta-2-microglobulin concentrationHPOHP:0025347
- 4 of 4 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 4 of 4 reported patients
- Decreased specific antibody response to unconjugated polysaccharide vaccineHPOHP:0410299
- 2 of 2 reported patients
- HypoalbuminemiaHPOHP:0003073
- 4 of 4 reported patients
- HypoproteinemiaHPOHP:0003075
- 2 of 2 reported patients
- Decreased total B cell countHPOHP:0010976
- 1 of 2 reported patients
- Lung abscessHPOHP:0025044
- 1 of 2 reported patients
- Organizing pneumoniaHPOHP:0033670
- 1 of 2 reported patients
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 2 reported patients
- Subcutaneous noduleHPOHP:0001482
- 1 of 2 reported patients
- Abnormal circulating IgA concentrationHPOHP:0410240
- 0 of 2 reported patients
Show the remaining 2
- Abnormal circulating IgM concentrationHPOHP:0410243
- 0 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
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.
- B2MHGNC:914
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of