Pituitary stalk interruption syndrome

ORPHA:95496Morphological anomalyAutosomal dominant, Autosomal recessive, Not applicableChildhood

Ассоциированные гены7

Ген	Полное название	Тип связи	Тип гена	OMIM
WDR11	WD repeat domain 11	Candidate gene tested in	gene with protein product	606417
ROBO1	roundabout guidance receptor 1	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	602430
PROKR2	prokineticin receptor 2	Candidate gene tested in	gene with protein product	607123
HESX1	HESX homeobox 1	Disease-causing germline mutation(s) in	gene with protein product	601802
LHX4	LIM homeobox 4	Disease-causing germline mutation(s) in	gene with protein product	602146
CDON	cell adhesion associated, oncogene regulated	Disease-causing germline mutation(s) in	gene with protein product	608707
GPR161	G protein-coupled receptor 161	Disease-causing germline mutation(s) in	gene with protein product	612250

Облигатный (100%)1

HP:0011755Ectopic posterior pituitary

Очень частый (80–99%)3

HP:0000864Abnormality of the hypothalamus-pituitary axis

HP:0001508Failure to thrive

HP:0004322Short stature

Частый (30–79%)4

HP:0000821Hypothyroidism

HP:0000823Delayed puberty

HP:0001943Hypoglycemia

HP:0008736Hypoplasia of penis

Периодический (5–29%)9

HP:0000028Cryptorchidism

HP:0000786Primary amenorrhea

HP:0000835Adrenal hypoplasia

HP:0000873Diabetes insipidus

HP:0001249Intellectual disability

HP:0001250Seizure

HP:0001263Global developmental delay

HP:0001522Death in infancy

HP:0100842Septo-optic dysplasia

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)