congenital analbuminemia
MONDO:0014449Mondo
Findings
No curated finding names congenital analbuminemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
Definition from the Mondo Disease Ontology (MONDO:0014449), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Miscarriage
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.
- EdemaHPOHP:0000969
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 2 of 2 reported patients
- Elevated circulating transferrin concentrationHPOHP:0032386
- 2 of 2 reported patients
- FatigueHPOHP:0012378
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HypercholesterolemiaHPOHP:0003124
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- 16 of 16 reported patients
Show the remaining 11
- Pedal edemaHPOHP:0010741
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 6 of 11 reported patients
- Occasional (5% to 29% of cases)
- Facial edemaHPOHP:0000282
- Occasional (5% to 29% of cases)
- Low pulse pressureHPOHP:0030851
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.
- ALBHGNC:399
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021