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X-linked acrogigantism due to Xq26 microduplication

disorder
SNOMED 789187001CUI C3891556

Overview

X-linked acrogigantism due to Xq26 microduplication is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated circulating growth hormone concentration
Always present (100%)HP:0000845
Epilepsy
Always present (100%)HP:0001250
Generalised overgrowth
Always present (100%)HP:0001548
Hemianopia
Always present (100%)HP:0012377
Hunched back
Always present (100%)HP:0002808
Hypopituitarism
Always present (100%)HP:0040075
Increased circulating insulin-like growth factor 1 concentration
Always present (100%)HP:0030269
Pituitary adenoma
Very frequent (80-99%)HP:0002893
Prolactin excess
Very frequent (80-99%)HP:0000870
Acral enlargement
Frequent (30-79%)HP:0033794
Headache
Frequent (30-79%)HP:0002315
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Arthralgias
Occasional (5-29%)HP:0002829
Hyperhidrosis
Occasional (5-29%)HP:0000975
Wide-spaced teeth
Occasional (5-29%)HP:0000687
Accelerated linear growth
HP:0000098
BO
HP:0500001
Early bone maturation
HP:0005616
Increased appetite
HP:0002591
Sleep apnea
HP:0010535
Snoring symptoms
HP:0025267
Ventricular hypertrophy
HP:0001714

Quick Facts

SNOMED CT
789187001
UMLS CUI
C3891556
Fully Specified Name
X-linked acrogigantism due to Xq26 microduplication (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
23
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.