Familial infantile gigantism

Familial infantile gigantism is a rare, genetic, endocrine disease characterized by early-onset (before the age of five years old) excessive acceleration of linear growth and body size (height Z-score >4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000098 Tall stature Very frequent (99-80%)
HP:0000141 Amenorrhea Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000845 Growth hormone excess Very frequent (99-80%)
HP:0000870 Prolactin excess Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0001639 Hypertrophic cardiomyopathy Very frequent (99-80%)
HP:0001712 Left ventricular hypertrophy Very frequent (99-80%)
HP:0001833 Long foot Very frequent (99-80%)
HP:0001953 Diabetic ketoacidosis Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0005978 Type II diabetes mellitus Very frequent (99-80%)
HP:0011407 Proportionate tall stature Very frequent (99-80%)
HP:0011760 Pituitary growth hormone cell adenoma Very frequent (99-80%)
HP:0012411 Premature pubarche Very frequent (99-80%)
HP:0030269 Increased serum insulin-like growth factor 1 Very frequent (99-80%)
HP:0100829 Galactorrhea Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID