X-linked acrogigantism due to Xq26 microduplication
MONDO:0010491Mondo
Findings
No curated finding names X-linked acrogigantism due to Xq26 microduplication yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
42 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.
- Elevated circulating growth hormone concentrationHPOHP:0000845
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- HemianopiaHPOHP:0012377
- 1 of 1 reported patient
- HypopituitarismHPOHP:0040075
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Increased circulating insulin-like growth factor 1 concentrationHPOHP:0030269
- 27 of 27 reported patients
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- OvergrowthHPOHP:0001548
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Increased circulating prolactin concentrationHPOHP:0000870
- 24 of 27 reported patients
- Very frequent (80% to 99% of cases)
- Pituitary adenomaHPOHP:0002893
- 21 of 26 reported patients
- Frequent (30% to 79% of cases)
- Abnormal pituitary gland morphologyHPOHP:0012503
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- Acral overgrowthHPOHP:0033794
- 8 of 12 reported patients
Show the remaining 30
- Abnormal optic chiasm morphologyHPOHP:0025163
- Frequent (30% to 79% of cases)
- Abnormal oral glucose toleranceHPOHP:0004924
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- 6 of 13 reported patients
- Frequent (30% to 79% of cases)
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- Frequent (30% to 79% of cases)
- Fasting hyperinsulinemiaHPOHP:0008283
- Frequent (30% to 79% of cases)
- HyperhidrosisHPOHP:0000975
Where it sits
Other names
4 names
Resolves to: X-linked acrogigantism due to Xq26 microduplication
- Also called
- chromosome xq26.3 duplication syndrome, X-linked dominantfamilial infantile gigantism due to dup(X)q(26)familial infantile gigantism due to Xq26 microduplicationX-LAG (X-linked acrogigantism) due to dup(X)q(26)