Ear-patella-short stature syndrome
ORPHA:2554Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ORC4 | origin recognition complex subunit 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603056 |
| ORC6 | origin recognition complex subunit 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607213 |
| CDT1 | chromatin licensing and DNA replication factor 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605525 |
| CDC6 | cell division cycle 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602627 |
| ORC1 | origin recognition complex subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601902 |
| GMNN | geminin DNA replication inhibitor | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 602842 |
| CDC45 | cell division cycle 45 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603465 |
Фенотипы (HPO)49
Очень частый (80–99%)20
HP:0001382Joint hypermobility
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000413Atresia of the external auditory canal
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002750Delayed skeletal maturation
HP:0003100Slender long bone
HP:0003510Severe short stature
HP:0004209Clinodactyly of the 5th finger
HP:0005930Abnormality of epiphysis morphology
HP:0009892Anotia
HP:0009939Mandibular aplasia
HP:0011267Microtia, third degree
HP:0011968Feeding difficulties
HP:0000028Cryptorchidism
Частый (30–79%)16
HP:0000059Hypoplastic labia majora
HP:0000060Clitoral hypoplasia
HP:0000064Hypoplastic labia minora
HP:0000327Hypoplasia of the maxilla
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000772Abnormal rib morphology
HP:0001363Craniosynostosis
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002705High, narrow palate
HP:0002878Respiratory failure
HP:0006443Patellar aplasia
HP:0006660Aplastic clavicles
HP:0008665Clitoral hypertrophy
HP:0100490Camptodactyly of finger
Периодический (5–29%)13
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000365Hearing impairment
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0003042Elbow dislocation
HP:0008736Hypoplasia of penis
HP:0012471Thick vermilion border
HP:0100783Breast aplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 67 | 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)