3M syndrome
ORPHA:2616Malformation syndromeAutosomal recessiveAntenatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CUL7 | cullin 7 | Disease-causing germline mutation(s) in | gene with protein product | 609577 |
| OBSL1 | obscurin like cytoskeletal adaptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 610991 |
| CCDC8 | coiled-coil domain containing 8 subunit of 3M complex | Disease-causing germline mutation(s) in | gene with protein product | 614145 |
Фенотипы (HPO)42
Очень частый (80–99%)20
HP:0000232Everted lower lip vermilion
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000574Thick eyebrow
HP:0000944Abnormal metaphysis morphology
HP:0001511Intrauterine growth retardation
HP:0001838Rocker bottom foot
HP:0002007Frontal bossing
HP:0002750Delayed skeletal maturation
HP:0003100Slender long bone
HP:0003173Hypoplastic pubic bone
HP:0003175Hypoplastic ischia
HP:0003691Scapular winging
HP:0004322Short stature
HP:0004570Increased vertebral height
HP:0008839Hypoplastic pelvis
HP:0011800Midface retrusion
Частый (30–79%)15
HP:0000268Dolichocephaly
HP:0000307Pointed chin
HP:0000343Long philtrum
HP:0000411Protruding ear
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000883Thin ribs
HP:0000888Horizontal ribs
HP:0002983Micromelia
HP:0003022Hypoplasia of the ulna
HP:0003307Hyperlordosis
HP:0009811Abnormality of the elbow
HP:0010306Short thorax
HP:0100625Enlarged thorax
HP:0001382Joint hypermobility
Периодический (5–29%)7
HP:0000047Hypospadias
HP:0000144Decreased fertility
HP:0001374Congenital hip dislocation
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004209Clinodactyly of the 5th finger
HP:0100659Abnormality of the cerebral vasculature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)