2p21 microdeletion syndrome
ORPHA:163693DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC3A1 | solute carrier family 3 member 1 | Role in the phenotype of | gene with protein product | 104614 |
| PREPL | prolyl endopeptidase like | Role in the phenotype of | gene with protein product | 609557 |
| CAMKMT | calmodulin-lysine N-methyltransferase | Role in the phenotype of | gene with protein product | 609559 |
| PPM1B | protein phosphatase, Mg2+/Mn2+ dependent 1B | Role in the phenotype of | gene with protein product | 603770 |
Фенотипы (HPO)19
Очень частый (80–99%)14
HP:0000135Hypogonadism
HP:0000527Long eyelashes
HP:0000787Nephrolithiasis
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001611Hypernasal speech
HP:0002007Frontal bossing
HP:0002342Intellectual disability, moderate
HP:0003131Cystinuria
HP:0005280Depressed nasal bridge
HP:0200125Mitochondrial respiratory chain defects
HP:0000358Posteriorly rotated ears
Частый (30–79%)3
HP:0001250Seizure
HP:0002901Hypocalcemia
HP:0003128Lactic acidosis
Периодический (5–29%)2
HP:0001558Decreased fetal movement
HP:0001943Hypoglycemia
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)