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ACTH-independent macronodular adrenal hyperplasia
1 OMIM reference -
1 associated gene
1 connected disease
18 signs/symptoms
Disease Type of connection
Pseudohypoaldosteronism type 2E
Synonym(s):
- AIMAH
- Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
- Corticotropin-independent macronodular adrenal hyperplasia

Classification (Orphanet):
- Rare endocrine disease
- Rare infertility

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
ARMC5 Q96C12615549
Very frequent
- Cortico-adrenal hyperplasia / hypersecretion
- Cushingoid morphotype
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Round face
- Thin skin
- Truncal obesity

Frequent
- Asthenia / fatigue / weakness
- Bruisability
- Chronic arterial hypertension
- Diabetes mellitus
- Hirsutism / hypertrichosis / Increased body hair
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Muscle weakness / flaccidity
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Autosomal dominant inheritance
- Meningioma