Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
ORPHA:98754Etiological subtypeNot applicableAdolescent, Adult
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SNRPN | small nuclear ribonucleoprotein polypeptide N | Role in the phenotype of | gene with protein product | 182279 |
| MAGEL2 | MAGE family member L2 | Role in the phenotype of | gene with protein product | 605283 |
| NDN | necdin, MAGE family member | Role in the phenotype of | gene with protein product | 602117 |
| OCA2 | OCA2 melanosomal transmembrane protein | Role in the phenotype of | gene with protein product | 611409 |
Фенотипы (HPO)67
Очень частый (80–99%)4
HP:0000028Cryptorchidism
HP:0001513Obesity
HP:0002119Ventriculomegaly
HP:0008872Feeding difficulties in infancy
Частый (30–79%)34
HP:0000064Hypoplastic labia minora
HP:0000486Strabismus
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000717Autism
HP:0000729Autistic behavior
HP:0000786Primary amenorrhea
HP:0000789Infertility
HP:0000823Delayed puberty
HP:0000824Decreased response to growth hormone stimulation test
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0001773Short foot
HP:0002205Recurrent respiratory infections
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0003241External genital hypoplasia
HP:0004322Short stature
HP:0006889Intellectual disability, borderline
HP:0008734Decreased testicular size
HP:0010627Anterior pituitary hypoplasia
HP:0011734Central adrenal insufficiency
HP:0012104Parietal cortical atrophy
HP:0012105Occipital cortical atrophy
HP:0012650Perisylvian polymicrogyria
HP:0025160Abnormal temper tantrums
HP:0030339Decreased circulating gonadotropin level
HP:0031169Postterm pregnancy
HP:0200055Small hand
HP:0000044Hypogonadotropic hypogonadism
HP:0000046Small scrotum
HP:0000060Clitoral hypoplasia
Периодический (5–29%)24
HP:0000819Diabetes mellitus
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001385Hip dysplasia
HP:0001518Small for gestational age
HP:0001558Decreased fetal movement
HP:0002360Sleep abnormality
HP:0002578Gastroparesis
HP:0002714Downturned corners of mouth
HP:0002870Obstructive sleep apnea
HP:0002871Central apnea
HP:0007874Almond-shaped palpebral fissure
HP:0010741Pedal edema
HP:0010829Impaired temperature sensition
HP:0011787Central hypothyroidism
HP:0012166Skin-picking
HP:0012411Premature pubarche
HP:0012412Premature adrenarche
HP:0031100Decreased inhibin B level
HP:0031507Decreased circulating thyroxine level
HP:0100716Self-injurious behavior
HP:0100739Bulimia
Очень редкий (1–4%)5
HP:0000826Precocious puberty
HP:0001010Hypopigmentation of the skin
HP:0002342Intellectual disability, moderate
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)