Microphthalmia with linear skin defects syndrome
ORPHA:2556Malformation syndromeX-linked dominantNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HCCS | holocytochrome c synthase | Disease-causing germline mutation(s) in | gene with protein product | 300056 |
| COX7B | cytochrome c oxidase subunit 7B | Disease-causing germline mutation(s) in | gene with protein product | 300885 |
| NDUFB11 | NADH:ubiquinone oxidoreductase subunit B11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300403 |
Фенотипы (HPO)77
Очень частый (80–99%)11
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000647Sclerocornea
HP:0000776Congenital diaphragmatic hernia
HP:0000953Hyperpigmentation of the skin
HP:0001000Abnormality of skin pigmentation
HP:0004334Dermal atrophy
HP:0007957Corneal opacity
HP:0008065Aplasia/Hypoplasia of the skin
HP:0010783Erythema
HP:0011800Midface retrusion
Частый (30–79%)19
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000492Abnormal eyelid morphology
HP:0000499Abnormal eyelash morphology
HP:0000598Abnormality of the ear
HP:0000614Abnormal nasolacrimal system morphology
HP:0001053Hypopigmented skin patches
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001671Abnormal cardiac septum morphology
HP:0001999Abnormal facial shape
HP:0003510Severe short stature
HP:0004327Abnormal vitreous humor morphology
HP:0007703Abnormality of retinal pigmentation
HP:0009939Mandibular aplasia
HP:0011531Vitritis
HP:0011675Arrhythmia
Периодический (5–29%)47
HP:0000035Abnormal testis morphology
HP:0000036Abnormality of the penis
HP:0000037Male pseudohermaphroditism
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000363Abnormality of earlobe
HP:0000365Hearing impairment
HP:0000501Glaucoma
HP:0000556Retinal dystrophy
HP:0000572Visual loss
HP:0000618Blindness
HP:0000627Posterior embryotoxon
HP:0000646Amblyopia
HP:0000682Abnormality of dental enamel
HP:0000960Sacral dimple
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001328Specific learning disability
HP:0001331Absent septum pellucidum
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001597Abnormality of the nail
HP:0001634Mitral valve prolapse
HP:0001653Mitral regurgitation
HP:0001704Tricuspid valve prolapse
HP:0002034Abnormality of the rectum
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002133Status epilepticus
HP:0002300Mutism
HP:0002381Aphasia
HP:0002878Respiratory failure
HP:0004302Functional motor deficit
HP:0004378Abnormality of the anus
HP:0005180Tricuspid regurgitation
HP:0007731Chorioretinal dysplasia
HP:0007973Retinal dysplasia
HP:0008665Clitoral hypertrophy
HP:0010529Echolalia
HP:0011027Abnormality of the fallopian tube
HP:0011265Cleft earlobe
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 55 | 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)