Kallmann syndrome
ORPHA:478Clinical subtypeAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessiveAdolescent, Childhood
Ассоциированные гены22
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CCDC141 | coiled-coil domain containing 141 | Disease-causing germline mutation(s) in | gene with protein product | 616031 |
| 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 |
| SOX10 | SRY-box transcription factor 10 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602229 |
| FGFR1 | fibroblast growth factor receptor 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136350 |
| HESX1 | HESX homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601802 |
| ANOS1 | anosmin 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300836 |
| FGF8 | fibroblast growth factor 8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600483 |
| 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 |
| SEMA3A | semaphorin 3A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603961 |
| IL17RD | interleukin 17 receptor D | Disease-causing germline mutation(s) in | gene with protein product | 606807 |
| 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 |
| FLRT3 | fibronectin leucine rich transmembrane protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 604808 |
| FEZF1 | FEZ family zinc finger 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613301 |
| DCC | DCC netrin 1 receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 120470 |
| NDNF | neuron derived neurotrophic factor | Disease-causing germline mutation(s) in | gene with protein product | 616506 |
| TACR3 | tachykinin receptor 3 | Disease-causing germline mutation(s) in | gene with protein product | 162332 |
| CCDC141 | coiled-coil domain containing 141 | Major susceptibility factor in | gene with protein product | 616031 |
Фенотипы (HPO)44
Очень частый (80–99%)11
HP:0000044Hypogonadotropic hypogonadism
HP:0000054Micropenis
HP:0000144Decreased fertility
HP:0000458Anosmia
HP:0000823Delayed puberty
HP:0000830Anterior hypopituitarism
HP:0003164Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency
HP:0004409Hyposmia
HP:0008734Decreased testicular size
HP:0008736Hypoplasia of penis
HP:0100639Erectile dysfunction
Частый (30–79%)4
HP:0000028Cryptorchidism
HP:0001608Abnormality of the voice
HP:0003187Breast hypoplasia
HP:0004349Reduced bone mineral density
Периодический (5–29%)29
HP:0000008Abnormal morphology of female internal genitalia
HP:0000104Renal agenesis
HP:0000175Cleft palate
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000551Color vision defect
HP:0000639Nystagmus
HP:0000771Gynecomastia
HP:0000786Primary amenorrhea
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001335Bimanual synkinesia
HP:0001337Tremor
HP:0001513Obesity
HP:0001761Pes cavus
HP:0001763Pes planus
HP:0002652Skeletal dysplasia
HP:0002750Delayed skeletal maturation
HP:0002757Recurrent fractures
HP:0008064Ichthyosis
HP:0009804Tooth agenesis
HP:0010550Paraplegia
HP:0030016Dyspareunia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.75 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 5 | France | Value and class |
| Annual incidence | 1-9 / 100 000 | 2.1 | Finland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.6 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)