monocytopenia with susceptibility to infections
MONDO:0013607Mondo
Findings
No curated finding names monocytopenia with susceptibility to infections yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Intermediate young adult onset
HPO, annotations 2026-09-02
Features
37 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Cervical intraepithelial neoplasiaHPOHP:0032242
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- Megakaryocyte nucleus hypolobulationHPOHP:0031385
- 1 of 1 reported patient
- MyelodysplasiaHPOHP:0002863
- 1 of 1 reported patient
- OsteomyelitisHPOHP:0002754
- 1 of 1 reported patient
- Reduced total natural killer cell countHPOHP:0040218
- 1 of 1 reported patient
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormal total neutrophil countHPOHP:0011991
- Very frequent (80% to 99% of cases)
- Acute leukemiaHPOHP:0002488
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Bone marrow hypocellularityHPOHP:0005528
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- LymphedemaHPOHP:0001004
- Very frequent (80% to 99% of cases)
- Prolonged bleeding timeHPOHP:0003010
- Very frequent (80% to 99% of cases)
- Respiratory failureHPOHP:0002878
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
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.
- GATA2HGNC:4171
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: monocytopenia with susceptibility to infections
- Also called
- immunodeficiency type 21monocytopenia and mycobacterial infection syndromeMonoMAC