Tetraamelia-multiple malformations syndrome
ORPHA:3301Malformation syndromeAutosomal recessive, X-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RSPO2 | R-spondin 2 | Disease-causing germline mutation(s) in | gene with protein product | 610575 |
| TBX4 | T-box transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 601719 |
| WNT3 | Wnt family member 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 165330 |
Фенотипы (HPO)35
Очень частый (80–99%)8
HP:0009924Aplasia/Hypoplasia involving the nose
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0001561Polyhydramnios
HP:0003057Tetraamelia
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008551Microtia
HP:0009103Aplasia/Hypoplasia involving the pelvis
Частый (30–79%)27
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000148Vaginal atresia
HP:0000160Narrow mouth
HP:0000293Full cheeks
HP:0000347Micrognathia
HP:0000482Microcornea
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0000772Abnormal rib morphology
HP:0000921Missing ribs
HP:0001274Agenesis of corpus callosum
HP:0001600Abnormality of the larynx
HP:0001671Abnormal cardiac septum morphology
HP:0002023Anal atresia
HP:0002101Abnormal lung lobation
HP:0002777Tracheal stenosis
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0008736Hypoplasia of penis
HP:0009812Amelia involving the upper limbs
HP:0010494Acromelia of the lower limbs
HP:0100335Non-midline cleft of the upper lip
HP:0100569Abnormally ossified vertebrae
HP:0100842Septo-optic dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 5 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)