Short rib-polydactyly syndrome, Verma-Naumoff type
ORPHA:93271Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IFT80 | intraflagellar transport 80 | Disease-causing germline mutation(s) in | gene with protein product | 611177 |
| DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 603297 |
| WDR35 | WD repeat domain 35 | Disease-causing germline mutation(s) in | gene with protein product | 613602 |
| DYNC2I1 | dynein 2 intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 615462 |
| DYNC2I2 | dynein 2 intermediate chain 2 | Disease-causing germline mutation(s) in | gene with protein product | 613363 |
Фенотипы (HPO)47
Очень частый (80–99%)12
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0000944Abnormal metaphysis morphology
HP:0001773Short foot
HP:0002093Respiratory insufficiency
HP:0002983Micromelia
HP:0003270Abdominal distention
HP:0004279Short palm
HP:0005716Lethal skeletal dysplasia
HP:0008873Disproportionate short-limb short stature
HP:0009106Abnormal pelvis bone ossification
HP:0010306Short thorax
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000062Ambiguous genitalia
HP:0000089Renal hypoplasia
HP:0000126Hydronephrosis
HP:0000204Cleft upper lip
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000445Wide nose
HP:0001162Postaxial hand polydactyly
HP:0001789Hydrops fetalis
HP:0002007Frontal bossing
HP:0002612Congenital hepatic fibrosis
HP:0003762Uterus didelphys
HP:0004599Absent or minimally ossified vertebral bodies
HP:0005280Depressed nasal bridge
HP:0008716Urethrovaginal fistula
HP:0008736Hypoplasia of penis
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)15
HP:0000107Renal cyst
HP:0000518Cataract
HP:0001177Preaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001539Omphalocele
HP:0002006Facial cleft
HP:0002023Anal atresia
HP:0002032Esophageal atresia
HP:0002089Pulmonary hypoplasia
HP:0002119Ventriculomegaly
HP:0004397Ectopic anus
HP:0010297Bifid tongue
HP:0010564Bifid epiglottis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.2 | United Arab Emirates | Value and class |
| Point prevalence | <1 / 1 000 000 | — | United Arab Emirates | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)