Hyperphosphatasia-intellectual disability syndrome
ORPHA:247262DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PIGV | phosphatidylinositol glycan anchor biosynthesis class V | Disease-causing germline mutation(s) in | gene with protein product | 610274 |
| PIGL | phosphatidylinositol glycan anchor biosynthesis class L | Disease-causing germline mutation(s) in | gene with protein product | 605947 |
| PIGO | phosphatidylinositol glycan anchor biosynthesis class O | Disease-causing germline mutation(s) in | gene with protein product | 614730 |
| PGAP2 | post-GPI attachment to proteins 2 | Disease-causing germline mutation(s) in | gene with protein product | 615187 |
| PGAP3 | post-GPI attachment to proteins phospholipase 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611801 |
| PIGW | phosphatidylinositol glycan anchor biosynthesis class W | Disease-causing germline mutation(s) in | gene with protein product | 610275 |
| PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610662 |
Фенотипы (HPO)62
Очень частый (80–99%)6
HP:0000316Hypertelorism
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0003155Elevated circulating alkaline phosphatase concentration
HP:0006118Shortening of all distal phalanges of the fingers
HP:0008947Floppy infant
Частый (30–79%)8
HP:0000431Wide nasal bridge
HP:0000637Long palpebral fissure
HP:0001249Intellectual disability
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0002069Bilateral tonic-clonic seizure
HP:0002714Downturned corners of mouth
HP:0010804Tented upper lip vermilion
Периодический (5–29%)48
HP:0000126Hydronephrosis
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000289Broad philtrum
HP:0000303Mandibular prognathia
HP:0000311Round face
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000378Cupped ear
HP:0000391Thickened helices
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000470Short neck
HP:0000540Hypermetropia
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000594Shallow anterior chamber
HP:0000657Oculomotor apraxia
HP:0000729Autistic behavior
HP:0000767Pectus excavatum
HP:0001009Telangiectasia
HP:0001195Single umbilical artery
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001315Reduced tendon reflexes
HP:0001336Myoclonus
HP:0001357Plagiocephaly
HP:0001385Hip dysplasia
HP:0001545Anteriorly placed anus
HP:0001562Oligohydramnios
HP:0001792Small nail
HP:0002251Aganglionic megacolon
HP:0002342Intellectual disability, moderate
HP:0002392EEG with polyspike wave complexes
HP:0002553Highly arched eyebrow
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0002696Abnormal parietal bone morphology
HP:0006808Cerebral hypomyelination
HP:0010850EEG with spike-wave complexes
HP:0010864Intellectual disability, severe
HP:0011471Gastrostomy tube feeding in infancy
HP:0030084Clinodactyly
HP:0040194Increased head circumference
HP:0040195Decreased head circumference
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)