Combined pituitary hormone deficiencies, genetic forms
ORPHA:95494DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FOXA2 | forkhead box A2 | Disease-causing germline mutation(s) in | gene with protein product | 600288 |
| POU1F1 | POU class 1 homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 173110 |
| PROP1 | PROP paired-like homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601538 |
| HESX1 | HESX homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601802 |
| OTX2 | orthodenticle homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 600037 |
| LHX4 | LIM homeobox 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602146 |
| GLI2 | GLI family zinc finger 2 | Disease-causing germline mutation(s) in | gene with protein product | 165230 |
Фенотипы (HPO)39
Облигатный (100%)1
HP:0040075Hypopituitarism
Частый (30–79%)18
HP:0000044Hypogonadotropic hypogonadism
HP:0000141Amenorrhea
HP:0000457Depressed nasal ridge
HP:0000789Infertility
HP:0000824Decreased response to growth hormone stimulation test
HP:0000938Osteopenia
HP:0001510Growth delay
HP:0001943Hypoglycemia
HP:0002615Hypotension
HP:0002920Decreased circulating ACTH level
HP:0008245Pituitary hypothyroidism
HP:0008734Decreased testicular size
HP:0009888Abnormality of secondary sexual hair
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0010626Anterior pituitary agenesis
HP:0010627Anterior pituitary hypoplasia
HP:0012378Fatigue
HP:0040086Abnormal prolactin level
Периодический (5–29%)6
HP:0000823Delayed puberty
HP:0000839Pituitary dwarfism
HP:0002019Constipation
HP:0002750Delayed skeletal maturation
HP:0005625Osteoporosis of vertebrae
HP:0008187Absence of secondary sex characteristics
Очень редкий (1–4%)14
HP:0009099Median cleft palate
HP:0000478Abnormality of the eye
HP:0000609Optic nerve hypoplasia
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0001360Holoprosencephaly
HP:0004637Decreased cervical spine mobility
HP:0010442Polydactyly
HP:0011297Abnormal digit morphology
HP:0011344Severe global developmental delay
HP:0011755Ectopic posterior pituitary
HP:0012731Ectopic anterior pituitary gland
HP:0100842Septo-optic dysplasia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)