Trichorhinophalangeal syndrome type 2
ORPHA:502Malformation syndromeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RAD21 | RAD21 cohesin complex component | Role in the phenotype of | gene with protein product | 606462 |
| TRPS1 | transcriptional repressor GATA binding 1 | Role in the phenotype of | gene with protein product | 604386 |
| EXT1 | exostosin glycosyltransferase 1 | Role in the phenotype of | gene with protein product | 608177 |
Фенотипы (HPO)38
Очень частый (80–99%)13
HP:0000219Thin upper lip vermilion
HP:0000343Long philtrum
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0002002Deep philtrum
HP:0002209Sparse scalp hair
HP:0002653Bone pain
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0005039Multiple long-bone exostoses
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
HP:0100777Exostoses
HP:0000358Posteriorly rotated ears
Частый (30–79%)6
HP:0001382Joint hypermobility
HP:0000574Thick eyebrow
HP:0001249Intellectual disability
HP:0001373Joint dislocation
HP:0001582Redundant skin
HP:0009118Aplasia/Hypoplasia of the mandible
Периодический (5–29%)19
HP:0000010Recurrent urinary tract infections
HP:0000076Vesicoureteral reflux
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000405Conductive hearing impairment
HP:0000431Wide nasal bridge
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001385Hip dysplasia
HP:0001510Growth delay
HP:0001883Talipes
HP:0002119Ventriculomegaly
HP:0002857Genu valgum
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0007598Bilateral single transverse palmar creases
HP:0009928Thick nasal alae
HP:0011069Supernumerary tooth
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 100 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)