Autosomal recessive spondylocostal dysostosis
ORPHA:2311Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TBX6 | T-box transcription factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 602427 |
| DLL3 | delta like canonical Notch ligand 3 | Disease-causing germline mutation(s) in | gene with protein product | 602768 |
| MESP2 | mesoderm posterior bHLH transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 605195 |
| LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 602576 |
| HES7 | hes family bHLH transcription factor 7 | Disease-causing germline mutation(s) in | gene with protein product | 608059 |
| RIPPLY2 | ripply transcriptional repressor 2 | Disease-causing germline mutation(s) in | gene with protein product | 609891 |
Фенотипы (HPO)38
Очень частый (80–99%)13
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0000902Rib fusion
HP:0001511Intrauterine growth retardation
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0003312Abnormal form of the vertebral bodies
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0005108Abnormal intervertebral disk morphology
HP:0006655Rib segmentation abnormalities
HP:0010306Short thorax
HP:0010978Abnormality of immune system physiology
Частый (30–79%)1
HP:0002808Kyphosis
Периодический (5–29%)24
HP:0000008Abnormal morphology of female internal genitalia
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000069Abnormality of the ureter
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000269Prominent occiput
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0000776Congenital diaphragmatic hernia
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0002435Meningocele
HP:0003298Spina bifida occulta
HP:0005280Depressed nasal bridge
HP:0000358Posteriorly rotated ears
HP:0006101Finger syndactyly
HP:0010772Anomalous pulmonary venous return
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
HP:0100589Urogenital fistula
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)