X-linked acrogigantism
Synonyms: Familial infantile gigantism · Hereditary infantile gigantism · Hereditary pituitary hyperplasia · Infantile gigantism due to pituitary hyperplasia · X-LAG
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated 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, increased appetite and acanthosis nigricans.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked acrogigantism | Familial infantile gigantism · Hereditary infantile gigantism · Hereditary pituitary hyperplasia · Infantile gigantism due to pituitary hyperplasia · X-LAG |
| fr | Acrogigantisme lié à l'X | X-LAG · Gigantisme infantile familial · Gigantisme infantile héréditaire · Gigantisme infantile par hyperplasie hypophysaire · Hyperplasie hypophysaire héréditaire |
| de | Akrogigantismus, X-chromosomaler | Gigantismus, infantiler hereditärer · Gigantismus, infantiler, durch Hypophysenhyperplasie · Gigantismus, infantiler, familiäre Form · Hereditäre Hyperplasie der Hypophyse · X-LAG |
| es | Acrogigantismo ligado al cromosoma X | Gigantismo infantil familiar · Gigantismo infantil hereditario · Gigantismo infantil por hiperplasia hipofisaria · Hiperplasia hipofisaria hereditaria · X-LAG |
| it | Acrogigantismo legato all'X | Gigantismo infantile da iperplasia ipofisaria · Gigantismo infantile ereditario · Gigantismo infantile familiare · Iperplasia ipofisaria ereditaria · X-LAG |
| nl | X-gebonden acrogigantisme | Erfelijk infantiel gigantisme · Erfelijke hypofysehyperplasie · Familiaal infantiel gigantisme · Familiale infantiele reuzengroei · Infantiel gigantisme door hypofysehyperplasie · X-LAG |
| pt | Gigantismo infantil, forma familiar | |
| pl | Rodzinny gigantyzm dziecięcy | Dziedziczny gigantyzm dziecięcy · Dziedziczny przerost przysadki · Gigantyzm dziecięcy z powodu hiperplazji przysadki · X-LAG (Gigantyzm kończyn sprzężony z chromosomem X) |
| cs | Familiární infantilní gigantismus | Hereditární infantilní gigantismus · Hereditární pituitární hyperplázie · X-LAG (X-vázaný akrogigantismus) · Infantilní gigantismus způsobený pituitární hyperplázií |
| uk | Х-зчеплений акрогігантізм | Сімейний інфантильний гігантизм · Спадковий дитячий гігантизм · Спадкова гіперплазія гіпофіза · Дитячий гігантизм внаслідок гіперплазії гіпофіза · X-LAG |
| zh | X连锁肢端巨人症 | 垂体增生所致婴儿巨人症 |
| tr | X'e bağlı akrogigantizm | X-LAG · Ailesel infantil devliği · Kalıtsal infantil devliği · Kalıtsal hipofiz hiperplazisi · Hipofiz hiperplazisine bağlı infantil devliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300942 | BTNT | validated | |
| ICD-10 | E22.0 | NTBT | attributed | validated |
| ICD-11 | 5A60.0 | NTBT | attributed | validated |
| MONDO | 0017581 | E | validated | |
| UMLS | C4751112 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:715120Hyperpituitarism
rare endocrine diseases - ORPHA:183628Rare genetic hypothalamic or pituitary disease
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:448348OBSOLETE: X-linked acrogigantism due to a point mutation referred to · inactive
- ORPHA:448372OBSOLETE: X-linked acrogigantism due to Xq26 microduplication referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 29389097[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2020-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012503 | Abnormality of the pituitary gland | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0004924 | Abnormal oral glucose tolerance | |
| HP:0025163 | Abnormality of optic chiasm morphology | |
| HP:0000280 | Coarse facial features | |
| HP:0031098 | Decreased thyroid-stimulating hormone level | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0000975 | Hyperhidrosis | |
| HP:0031418 | Increased body mass index | |
| HP:0002893 | Pituitary adenoma | |
| HP:0002591 | Polyphagia | |
| HP:0010535 | Sleep apnea | |
| HP:0025267 | Snoring | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0001251 | Ataxia | |
| HP:0000823 | Delayed puberty | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000699 | Diastema | |
| HP:0012505 | Enlarged pituitary gland | |
| HP:0002315 | Headache | |
| HP:0000135 | Hypogonadism | |
| HP:0040075 | Hypopituitarism | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0001250 | Seizure | |
| HP:0001123 | Visual field defect | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 25712922[PMID]_29389097[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/300373
- This record as JSON: /data/d/300373.json