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Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Peters anomaly
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Isolated delta-storage pool disease
Cerebellar ataxia - hypogonadism
Anaplastic ependymoma
Hypoparathyroidism - deafness - renal disease
2q37 microdeletion syndrome
Synonym(s):
- Autoimmune enteropathy type 1
- IPEX

Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
FOXP3 Q9BZS1300292
No signs/symptoms info available.