Fraser syndrome
ORPHA:2052Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FRAS1 | Fraser extracellular matrix complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 607830 |
| FREM2 | FRAS1 related extracellular matrix 2 | Disease-causing germline mutation(s) in | gene with protein product | 608945 |
| GRIP1 | glutamate receptor interacting protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 604597 |
Фенотипы (HPO)66
Очень частый (80–99%)8
HP:0000079Abnormality of the urinary system
HP:0000618Blindness
HP:0001126Cryptophthalmos
HP:0006101Finger syndactyly
HP:0007925Lacrimal duct aplasia
HP:0007993Malformed lacrimal ducts
HP:0008678Renal hypoplasia/aplasia
HP:0012725Cutaneous syndactyly
Частый (30–79%)24
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
HP:0000046Small scrotum
HP:0000062Ambiguous genitalia
HP:0000142Abnormality of the vagina
HP:0000148Vaginal atresia
HP:0000316Hypertelorism
HP:0000356Abnormality of the outer ear
HP:0000370Abnormality of the middle ear
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0001602Laryngeal stenosis
HP:0001770Toe syndactyly
HP:0002023Anal atresia
HP:0002025Anal stenosis
HP:0005105Abnormal nasal morphology
HP:0005280Depressed nasal bridge
HP:0008736Hypoplasia of penis
HP:0008749Laryngeal hypoplasia
HP:0010297Bifid tongue
HP:0010458Female pseudohermaphroditism
HP:0012732Anorectal anomaly
Периодический (5–29%)31
HP:0002777Tracheal stenosis
HP:0003191Cleft ala nasi
HP:0003422Vertebral segmentation defect
HP:0004112Midline nasal groove
HP:0004397Ectopic anus
HP:0006610Wide intermamillary distance
HP:0008551Microtia
HP:0010720Abnormal hair pattern
HP:0030680Abnormal cardiovascular system morphology
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000068Urethral atresia
HP:0000202Orofacial cleft
HP:0000204Cleft upper lip
HP:0000218High palate
HP:0000252Microcephaly
HP:0000405Conductive hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000813Bicornuate uterus
HP:0001249Intellectual disability
HP:0001362Skull defect
HP:0001522Death in infancy
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001607Subglottic stenosis
HP:0002084Encephalocele
HP:0002089Pulmonary hypoplasia
HP:0002101Abnormal lung lobation
HP:0002475Myelomeningocele
Очень редкий (1–4%)3
HP:0000772Abnormal rib morphology
HP:0003183Wide pubic symphysis
HP:0009826Limb undergrowth
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)