Normosmic congenital hypogonadotropic hypogonadism
ORPHA:432Clinical subtypeAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessiveInfancy, Neonatal
Ассоциированные гены18
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NHLH2 | nescient helix-loop-helix 2 | Disease-causing germline mutation(s) in | gene with protein product | 162361 |
| PROK2 | prokineticin 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607002 |
| PROKR2 | prokineticin receptor 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607123 |
| CHD7 | chromodomain helicase DNA binding protein 7 | Disease-causing germline mutation(s) in | gene with protein product | 608892 |
| FGFR1 | fibroblast growth factor receptor 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136350 |
| GNRHR | gonadotropin releasing hormone receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 138850 |
| KISS1R | KISS1 receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604161 |
| NSMF | NMDA receptor synaptonuclear signaling and neuronal migration factor | Disease-causing germline mutation(s) in | gene with protein product | 608137 |
| GNRH1 | gonadotropin releasing hormone 1 | Disease-causing germline mutation(s) in | gene with protein product | 152760 |
| FGF8 | fibroblast growth factor 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600483 |
| TAC3 | tachykinin precursor 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 162330 |
| TACR3 | tachykinin receptor 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 162332 |
| WDR11 | WD repeat domain 11 | Disease-causing germline mutation(s) in | gene with protein product | 606417 |
| HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604846 |
| KISS1 | KiSS-1 metastasis suppressor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603286 |
| FGF17 | fibroblast growth factor 17 | Disease-causing germline mutation(s) in | gene with protein product | 603725 |
| DUSP6 | dual specificity phosphatase 6 | Disease-causing germline mutation(s) in | gene with protein product | 602748 |
| SPRY4 | sprouty RTK signaling antagonist 4 | Disease-causing germline mutation(s) in | gene with protein product | 607984 |
Фенотипы (HPO)38
Очень частый (80–99%)21
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000054Micropenis
HP:0000118Phenotypic abnormality
HP:0000134Female hypogonadism
HP:0000786Primary amenorrhea
HP:0000802Impotence
HP:0001608Abnormality of the voice
HP:0002231Sparse body hair
HP:0002750Delayed skeletal maturation
HP:0003187Breast hypoplasia
HP:0003782Eunuchoid habitus
HP:0006610Wide intermamillary distance
HP:0008187Absence of secondary sex characteristics
HP:0008197Absence of pubertal development
HP:0008734Decreased testicular size
HP:0011961Non-obstructive azoospermia
HP:0030019Increased female libido
HP:0040171Decreased serum testosterone concentration
HP:0000026Male hypogonadism
HP:0000027Azoospermia
Частый (30–79%)10
HP:0000002Abnormality of body height
HP:0000013Hypoplasia of the uterus
HP:0000716Depression
HP:0000739Anxiety
HP:0000771Gynecomastia
HP:0000823Delayed puberty
HP:0000869Secondary amenorrhea
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0008724Hypoplasia of the ovary
Периодический (5–29%)7
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0002761Generalized joint laxity
HP:0005280Depressed nasal bridge
HP:0008527Congenital sensorineural hearing impairment
HP:0012385Camptodactyly
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)