Pancreatic agenesis-holoprosencephaly syndrome
ORPHA:556955DiseaseAutosomal dominantAntenatal
Ассоциированные гены1
Фенотипы (HPO)23
Частый (30–79%)11
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0001274Agenesis of corpus callosum
HP:0001360Holoprosencephaly
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0011467Absent gallbladder
HP:0012443Abnormality of brain morphology
HP:0030795Reduced C-peptide level
HP:0031209Decreased lipoprotein lipase activity
HP:0100801Pancreatic aplasia
HP:0410289Hypoamylasemia
Периодический (5–29%)12
HP:0000218High palate
HP:0000269Prominent occiput
HP:0000340Sloping forehead
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000601Hypotelorism
HP:0002507Semilobar holoprosencephaly
HP:0006315Single median maxillary incisor
HP:0009658Aplasia/Hypoplasia of the phalanges of the thumb
HP:0010669Hypoplasia of the zygomatic bone
HP:0010938Abnormal external nose morphology
HP:0012418Hypoxemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)