Meckel syndrome
ORPHA:564Malformation syndromeAutosomal recessiveAntenatal
Ассоциированные гены17
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TXNDC15 | thioredoxin domain containing 15 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617778 |
| TMEM107 | transmembrane protein 107 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616183 |
| TCTN1 | tectonic family member 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609863 |
| TMEM237 | transmembrane protein 237 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614423 |
| RPGRIP1 | RPGR interacting protein 1 | Candidate gene tested in | gene with protein product | 605446 |
| CEP290 | centrosomal protein 290 | Disease-causing germline mutation(s) in | gene with protein product | 610142 |
| TMEM67 | transmembrane protein 67 | Disease-causing germline mutation(s) in | gene with protein product | 609884 |
| MKS1 | MKS transition zone complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 609883 |
| RPGRIP1L | RPGRIP1 like | Disease-causing germline mutation(s) in | gene with protein product | 610937 |
| CC2D2A | coiled-coil and C2 domain containing 2A | Disease-causing germline mutation(s) in | gene with protein product | 612013 |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) in | gene with protein product | 613277 |
| TCTN3 | tectonic family member 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613847 |
| TCTN2 | tectonic family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 613846 |
| B9D1 | B9 domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 614144 |
| B9D2 | B9 domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 611951 |
| TMEM231 | transmembrane protein 231 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614949 |
| CSPP1 | centrosome and spindle pole associated protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 611654 |
Фенотипы (HPO)45
Очень частый (80–99%)6
HP:0000003Multicystic kidney dysplasia
HP:0000252Microcephaly
HP:0001162Postaxial hand polydactyly
HP:0001830Postaxial foot polydactyly
HP:0002084Encephalocele
HP:0002612Congenital hepatic fibrosis
Частый (30–79%)19
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0000175Cleft palate
HP:0000293Full cheeks
HP:0000316Hypertelorism
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000457Depressed nasal ridge
HP:0000482Microcornea
HP:0000518Cataract
HP:0000532Chorioretinal abnormality
HP:0000568Microphthalmia
HP:0000647Sclerocornea
HP:0000648Optic atrophy
HP:0001562Oligohydramnios
HP:0001883Talipes
HP:0006870Lobar holoprosencephaly
HP:0008053Aplasia/Hypoplasia of the iris
Периодический (5–29%)20
HP:0000037Male pseudohermaphroditism
HP:0000068Urethral atresia
HP:0000073Ureteral duplication
HP:0000221Furrowed tongue
HP:0000238Hydrocephalus
HP:0000528Anophthalmia
HP:0001177Preaxial hand polydactyly
HP:0001305Dandy-Walker malformation
HP:0001696Situs inversus totalis
HP:0001737Pancreatic cysts
HP:0001746Asplenia
HP:0001747Accessory spleen
HP:0002323Anencephaly
HP:0006487Bowing of the long bones
HP:0006706Cystic liver disease
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010459True hermaphroditism
HP:0030680Abnormal cardiovascular system morphology
HP:0100732Pancreatic fibrosis
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.3 | France | Value and class |
| Point prevalence | <1 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-5 / 10 000 | 11 | Finland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.6 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)