DEND syndrome
ORPHA:79134DiseaseAutosomal dominant, Autosomal recessive, Not applicableInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | Disease-causing germline mutation(s) in | gene with protein product | 600509 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600937 |
| NARS2 | asparaginyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 612803 |
Фенотипы (HPO)19
Облигатный (100%)1
HP:0003074Hyperglycemia
Очень частый (80–99%)1
HP:0040217Elevated hemoglobin A1c
Частый (30–79%)4
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0008936Axial hypotonia
HP:0011342Mild global developmental delay
Периодический (5–29%)12
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0001488Bilateral ptosis
HP:0001944Dehydration
HP:0002013Vomiting
HP:0002521Hypsarrhythmia
HP:0002714Downturned corners of mouth
HP:0003196Short nose
HP:0005487Prominent metopic ridge
HP:0009830Peripheral neuropathy
HP:0009894Thickened ears
HP:0040025Clinodactyly of the 4th finger
Исключён (0%)1
HP:0030057Autoimmune antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)