ANE syndrome
Findings
No curated finding names ANE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Definition from the Mondo Disease Ontology (MONDO:0012794), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
35 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.
- AlopeciaHPOHP:0001596
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Central adrenal insufficiencyHPOHP:0011734
- 5 of 5 reported patients
- Delayed pubertyHPOHP:0000823
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- 5 of 5 reported patients
- Frequent (30% to 79% 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.
- RBM28HGNC:21863
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
1 name
Resolves to: ANE syndrome
- Also called
- alopecia-progressive neurological defect-endocrinopathy syndrome