PDE4D haploinsufficiency syndrome
ORPHA:439822Malformation syndromeUnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)15
HP:0000272Malar flattening
HP:0001156Brachydactyly
HP:0001230Broad metacarpals
HP:0001249Intellectual disability
HP:0001769Broad foot
HP:0001783Broad metatarsal
HP:0001831Short toe
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0006009Broad phalanx
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
HP:0010055Broad hallux
HP:0010743Short metatarsal
HP:0012368Flat face
Частый (30–79%)8
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0001511Intrauterine growth retardation
HP:0005616Accelerated skeletal maturation
HP:0008897Postnatal growth retardation
HP:0010579Cone-shaped epiphysis
Периодический (5–29%)37
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000283Broad face
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000448Prominent nose
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000540Hypermetropia
HP:0000565Esotropia
HP:0000601Hypotelorism
HP:0000637Long palpebral fissure
HP:0000682Abnormality of dental enamel
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001319Neonatal hypotonia
HP:0001382Joint hypermobility
HP:0001513Obesity
HP:0001763Pes planus
HP:0002003Large forehead
HP:0002007Frontal bossing
HP:0002516Increased intracranial pressure
HP:0002615Hypotension
HP:0002684Thickened calvaria
HP:0003165Elevated circulating parathyroid hormone level
HP:0003301Irregular vertebral endplates
HP:0005274Prominent nasal tip
HP:0005819Short middle phalanx of finger
HP:0008457Caudal interpedicular narrowing
HP:0009824Upper limb undergrowth
HP:0010665Bilateral coxa valga
HP:0045025Narrow palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)