immunodeficiency-centromeric instability-facial anomalies syndrome
Findings
No curated finding names immunodeficiency-centromeric instability-facial anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.
Definition from the Mondo Disease Ontology (MONDO:0000133), read 2026-09-29. CC BY 4.0.
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.
- Abnormality of chromosome stabilityHPOHP:0003220
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- MalabsorptionHPOHP:0002024
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Flat faceHPOHP:0012368
- Occasional (5% to 29% of cases)
Genes
5 genes
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.
- CDCA7HGNC:14628
- Supportive · Orphanet · Autosomal recessive · 2021
- DNMT3BHGNC:2979
- Supportive · Orphanet · Autosomal recessive · 2021
- HELLSHGNC:4861
- Supportive · Orphanet · Autosomal recessive · 2021
- ZBTB24HGNC:21143
- Supportive · Orphanet · Autosomal recessive · 2021
- UHRF1HGNC:12556
- Limited · G2P · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: immunodeficiency-centromeric instability-facial anomalies syndrome
- Also called
- immunodeficiency-centromeric instability-facial anomalies