MAN1B1-CDG
ORPHA:397941DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)53
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0008947Floppy infant
Частый (30–79%)9
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000494Downslanted palpebral fissures
HP:0001256Intellectual disability, mild
HP:0001956Truncal obesity
HP:0002465Poor speech
HP:0012301Type II transferrin isoform profile
HP:0012443Abnormality of brain morphology
Периодический (5–29%)29
HP:0000219Thin upper lip vermilion
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000307Pointed chin
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000331Short chin
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000448Prominent nose
HP:0000470Short neck
HP:0000540Hypermetropia
HP:0000708Atypical behavior
HP:0000717Autism
HP:0000768Pectus carinatum
HP:0000973Cutis laxa
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0001382Joint hypermobility
HP:0002007Frontal bossing
HP:0002136Broad-based gait
HP:0002342Intellectual disability, moderate
HP:0002591Polyphagia
HP:0003186Inverted nipples
HP:0004523Long eyebrows
HP:0010801Underdeveloped nasolabial fold
HP:0010814Abnormal position of hair whorl
HP:0010864Intellectual disability, severe
HP:0045075Sparse eyebrow
Очень редкий (1–4%)11
HP:0000276Long face
HP:0000286Epicanthus
HP:0000527Long eyelashes
HP:0002322Resting tremor
HP:0004209Clinodactyly of the 5th finger
HP:00046912-3 toe syndactyly
HP:0005469Flat occiput
HP:0007165Periventricular heterotopia
HP:0007565Multiple cafe-au-lait spots
HP:0012471Thick vermilion border
HP:0012472Eclabion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)