Infantile multisystem neurologic-endocrine-pancreatic disease
ORPHA:456312DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)8
HP:0000407Sensorineural hearing impairment
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001738Exocrine pancreatic insufficiency
HP:0001999Abnormal facial shape
HP:0002342Intellectual disability, moderate
HP:0003693Distal amyotrophy
Частый (30–79%)19
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000309Abnormal midface morphology
HP:0000577Exotropia
HP:0000819Diabetes mellitus
HP:0001155Abnormality of the hand
HP:0001310Dysmetria
HP:0001319Neonatal hypotonia
HP:0001508Failure to thrive
HP:0001530Mild postnatal growth retardation
HP:0001760Abnormal foot morphology
HP:0001771Achilles tendon contracture
HP:0002353EEG abnormality
HP:0002460Distal muscle weakness
HP:0005484Secondary microcephaly
HP:0009623Proximal placement of thumb
HP:0010628Facial palsy
HP:0100307Cerebellar hemisphere hypoplasia
HP:0100807Long fingers
Периодический (5–29%)21
HP:0000049Shawl scrotum
HP:0000316Hypertelorism
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0001374Congenital hip dislocation
HP:0001558Decreased fetal movement
HP:0001772Talipes equinovalgus
HP:0001844Abnormal hallux morphology
HP:0002123Generalized myoclonic seizure
HP:0002240Hepatomegaly
HP:0003431Decreased motor nerve conduction velocity
HP:0003448Decreased sensory nerve conduction velocity
HP:0006276Hyperechogenic pancreas
HP:0008366Foot joint contracture
HP:0009463Ulnar deviation of the 3rd finger
HP:0009464Ulnar deviation of the 2nd finger
HP:0009473Joint contracture of the hand
HP:0012418Hypoxemia
HP:0030146Abnormal liver parenchyma morphology
HP:0030951Skeletal muscle fibrosis
HP:0100800Aplasia/Hypoplasia of the pancreas
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)