ALG9-CDG
ORPHA:79328DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)86
Очень частый (80–99%)3
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
Частый (30–79%)7
HP:0000253Progressive microcephaly
HP:0001252Hypotonia
HP:0001627Abnormal heart morphology
HP:0001698Pericardial effusion
HP:0002240Hepatomegaly
HP:0002652Skeletal dysplasia
HP:0003186Inverted nipples
Периодический (5–29%)76
HP:0000358Posteriorly rotated ears
HP:0000105Enlarged kidney
HP:0000126Hydronephrosis
HP:0000154Wide mouth
HP:0000193Bifid uvula
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000260Wide anterior fontanel
HP:0000270Delayed cranial suture closure
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000430Underdeveloped nasal alae
HP:0000444Convex nasal ridge
HP:0000470Short neck
HP:0000473Torticollis
HP:0000474Thickened nuchal skin fold
HP:0000506Telecanthus
HP:0000520Proptosis
HP:0000565Esotropia
HP:0000586Shallow orbits
HP:0000737Irritability
HP:0000813Bicornuate uterus
HP:0000998Hypertrichosis
HP:0001234Hitchhiker thumb
HP:0001272Cerebellar atrophy
HP:0001347Hyperreflexia
HP:0001405Periportal fibrosis
HP:0001407Hepatic cysts
HP:0001539Omphalocele
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001762Talipes equinovarus
HP:0001789Hydrops fetalis
HP:0002007Frontal bossing
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002061Lower limb spasticity
HP:0002089Pulmonary hypoplasia
HP:0002099Asthma
HP:0002101Abnormal lung lobation
HP:0002162Low posterior hairline
HP:0002265Large fleshy ears
HP:0002557Hypoplastic nipples
HP:0003015Flared metaphysis
HP:0003026Short long bone
HP:0003196Short nose
HP:0003375Narrow greater sciatic notch
HP:0005133Right ventricular dilatation
HP:0005180Tricuspid regurgitation
HP:0005280Depressed nasal bridge
HP:0005343Hypoplasia of the bladder
HP:0005487Prominent metopic ridge
HP:0007385Aplasia cutis congenita of scalp
HP:0008724Hypoplasia of the ovary
HP:0008776Abnormal renal artery morphology
HP:0008905Rhizomelia
HP:0009004Hypoplasia of the musculature
HP:0009125Lipodystrophy
HP:0009487Ulnar deviation of the hand
HP:0010763Low insertion of columella
HP:0011103Abnormal left ventricular outflow tract morphology
HP:0011473Villous atrophy
HP:0011849Abnormal bone ossification
HP:0012448Delayed myelination
HP:0012704Widened subarachnoid space
HP:0030215Inappropriate crying
HP:0032464Ureteral hypoplasia
HP:0100865Broad ischia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)