Hypothyroidism due to deficient transcription factors involved in pituitary development or function
ORPHA:226307DiseaseAutosomal dominant, Autosomal recessiveInfancy
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| LHX3 | LIM homeobox 3 | Disease-causing germline mutation(s) in | gene with protein product | 600577 |
| LHX4 | LIM homeobox 4 | Disease-causing germline mutation(s) in | gene with protein product | 602146 |
Фенотипы (HPO)51
Очень частый (80–99%)3
HP:0008245Pituitary hypothyroidism
HP:0031098Decreased thyroid-stimulating hormone level
HP:0031219Reduced radioactive iodine uptake
Частый (30–79%)23
HP:0000158Macroglossia
HP:0000270Delayed cranial suture closure
HP:0000282Facial edema
HP:0000871Panhypopituitarism
HP:0001254Lethargy
HP:0001265Hyporeflexia
HP:0001510Growth delay
HP:0001537Umbilical hernia
HP:0001662Bradycardia
HP:0002019Constipation
HP:0002045Hypothermia
HP:0004491Large posterior fontanelle
HP:0005930Abnormality of epiphysis morphology
HP:0005990Thyroid hypoplasia
HP:0006579Prolonged neonatal jaundice
HP:0008202Reduced circulating prolactin concentration
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
HP:0010627Anterior pituitary hypoplasia
HP:0012378Fatigue
HP:0012758Neurodevelopmental delay
HP:0031507Decreased circulating thyroxine level
HP:0040075Hypopituitarism
Периодический (5–29%)23
HP:0000044Hypogonadotropic hypogonadism
HP:0000407Sensorineural hearing impairment
HP:0000470Short neck
HP:0000609Optic nerve hypoplasia
HP:0000824Decreased response to growth hormone stimulation test
HP:0000839Pituitary dwarfism
HP:0001161Hand polydactyly
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001317Abnormal cerebellum morphology
HP:0001943Hypoglycemia
HP:0001999Abnormal facial shape
HP:0002920Decreased circulating ACTH level
HP:0004637Decreased cervical spine mobility
HP:0005280Depressed nasal bridge
HP:0009381Short finger
HP:0011220Prominent forehead
HP:0011755Ectopic posterior pituitary
HP:0011800Midface retrusion
HP:0025502Overweight
HP:0030341Decreased circulating follicle stimulating hormone concentration
HP:0030344Decreased circulating luteinizing hormone level
HP:0031218Inappropriate antidiuretic hormone secretion
Исключён (0%)2
HP:0011437Maternal autoimmune disease
HP:0025483Abnormal circulating thyroglobulin concentration
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)