immunodeficiency 80 with or without congenital cardiomyopathy
MONDO:0030266Mondo
Findings
No curated finding names immunodeficiency 80 with or without congenital cardiomyopathy 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
- Fetal onset
HPO, annotations 2026-09-02
Features
19 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 total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Endocardial fibroelastosisHPOHP:0001706
- 3 of 3 reported patients · Fetal onset
- FeverHPOHP:0001945
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypofibrinogenemiaHPOHP:0011900
- 1 of 1 reported patient
- Hypoplasia of the thymusHPOHP:0000778
- 3 of 3 reported patients · Fetal onset
- Hypoplastic spleenHPOHP:0006270
- 3 of 3 reported patients · Fetal onset
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- Impaired phytohemagglutinin-induced T lymphocyte transformationHPOHP:0025834
- 1 of 1 reported patient
- Increased circulating ferritin concentrationHPOHP:0003281
- 1 of 1 reported patient
Show the remaining 7
- Nonimmune hydrops fetalisHPOHP:0001790
- 3 of 3 reported patients · Fetal onset
- Pericardial effusionHPOHP:0001698
- 3 of 3 reported patients · Fetal onset
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Restrictive cardiomyopathyHPOHP:0001723
- 3 of 3 reported patients · Fetal onset
- Right atrial enlargementHPOHP:0030718
- 3 of 3 reported patients · Fetal onset
- Severe cytomegalovirus infectionHPOHP:0031692
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.
- MCM10HGNC:18043
- Moderate · ClinGen · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: immunodeficiency 80 with or without congenital cardiomyopathy
- Also called
- IMD80immunodeficiency 80 with or without cardiomyopathyimmunodeficiency with or without congenital cardiomyopathyMCM10 deficiency