Preferred Label : Adrenomyodystrophy;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Von Petrykowski et al. (1982) described 2 brothers who died at ages 3 years 8 months
and 1 year 7 months of primary adrenal insufficiency, dystrophic myopathy, severe
psychomotor retardation, fatty degeneration of the liver, megalocornea, chronic constipation,
and terminal massive bladder ectasia. The pituitary contained ACTH-producing microadenomas.
They felt that the features distinguished the disorder from adrenoleukodystrophy (300100)
and from glycerol kinase deficiency (307030). *FIELD* RF 1. von Petrykowski, W.; Beckmann,
R.; Bohm, N.; Ketelsen, U.-P.; Ropers, H. H.; Sauer, M.: Adrenal insufficiency, myopathic
hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder
ectasia in 2 brothers: adrenomyodystrophy. Helv. Paediat. Acta 37: 387-400, 1982.
*FIELD* CS Endocrine: Primary adrenal insufficiency Muscle: Dystrophic myopathy Neuro:
Severe psychomotor retardation GI: Fatty liver degeneration; Chronic constipation
Eyes: Megalocornea GU: Terminal massive bladder ectasia Lab:;
Inheritance : X-linked;
Prefixed ID : 300270;
Origin ID : 300270;
UMLS CUI : C1846044;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
