Isolated permanent neonatal diabetes mellitus
ORPHA:99885DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STAT3 | signal transducer and activator of transcription 3 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 102582 |
| GCK | glucokinase | Disease-causing germline mutation(s) in | gene with protein product | 138079 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | Disease-causing germline mutation(s) in | gene with protein product | 600937 |
| PDX1 | pancreatic and duodenal homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 600733 |
| INS | insulin | Disease-causing germline mutation(s) in | gene with protein product | 176730 |
| ABCC8 | ATP binding cassette subfamily C member 8 | Disease-causing germline mutation(s) in | gene with protein product | 600509 |
Фенотипы (HPO)35
Очень частый (80–99%)8
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0001508Failure to thrive
HP:0001824Weight loss
HP:0001944Dehydration
HP:0003074Hyperglycemia
HP:0003076Glycosuria
HP:0006274Reduced pancreatic beta cells
HP:0011106Hypovolemia
Частый (30–79%)16
HP:0002714Downturned corners of mouth
HP:0002804Arthrogryposis multiplex congenita
HP:0002919Ketonuria
HP:0005487Prominent metopic ridge
HP:0005750Contractures of the joints of the lower limbs
HP:0012594Microalbuminuria
HP:0012758Neurodevelopmental delay
HP:0000488Retinopathy
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001488Bilateral ptosis
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
Периодический (5–29%)10
HP:0000124Renal tubular dysfunction
HP:0000365Hearing impairment
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001259Coma
HP:0002186Apraxia
HP:0002594Pancreatic hypoplasia
HP:0003477Peripheral axonal neuropathy
HP:0010864Intellectual disability, severe
HP:0010935Abnormality of the upper urinary tract
Исключён (0%)1
HP:0030057Autoimmune antibody positivity
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Poland | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 | Slovakia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18 | Oman | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)