Trichothiodystrophy
ORPHA:33364DiseaseAutosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MPLKIP | M-phase specific PLK1 interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 609188 |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 126340 |
| GTF2H5 | general transcription factor IIH subunit 5 | Disease-causing germline mutation(s) in | gene with protein product | 608780 |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 133510 |
| RNF113A | ring finger protein 113A | Disease-causing germline mutation(s) in | gene with protein product | 300951 |
| GTF2E2 | general transcription factor IIE subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 189964 |
| TARS1 | threonyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 187790 |
| CARS1 | cysteinyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 123859 |
| AARS1 | alanyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 601065 |
Фенотипы (HPO)91
Периодический (5–29%)91
HP:0001263Global developmental delay
HP:0000028Cryptorchidism
HP:0000133Gonadal dysgenesis
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000320Bird-like facies
HP:0000411Protruding ear
HP:0000482Microcornea
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000509Conjunctivitis
HP:0000519Developmental cataract
HP:0000545Myopia
HP:0000546Retinal degeneration
HP:0000565Esotropia
HP:0000601Hypotelorism
HP:0000608Macular degeneration
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000656Ectropion
HP:0000670Carious teeth
HP:0000938Osteopenia
HP:0000958Dry skin
HP:0000964Eczematoid dermatitis
HP:0000992Cutaneous photosensitivity
HP:0001097Keratoconjunctivitis sicca
HP:0001197Abnormality of prenatal development or birth
HP:0001217Clubbing
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001265Hyporeflexia
HP:0001276Hypertonia
HP:0001290Generalized hypotonia
HP:0001338Partial agenesis of the corpus callosum
HP:0001363Craniosynostosis
HP:0001373Joint dislocation
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001598Concave nail
HP:0001618Dysphonia
HP:0001629Ventricular septal defect
HP:0001638Cardiomyopathy
HP:0001807Ridged nail
HP:0001808Fragile nails
HP:0001809Split nail
HP:0001875Decreased total neutrophil count
HP:0001903Anemia
HP:0002066Gait ataxia
HP:0002080Intention tremor
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002197Generalized-onset seizure
HP:0002209Sparse scalp hair
HP:0002293Alopecia of scalp
HP:0002299Brittle hair
HP:0002562Low-set nipples
HP:0002705High, narrow palate
HP:0002719Recurrent infections
HP:0002750Delayed skeletal maturation
HP:0002828Multiple joint contractures
HP:0002860Squamous cell carcinoma
HP:0002942Thoracic kyphosis
HP:0003079Defective DNA repair after ultraviolet radiation damage
HP:0003139Panhypogammaglobulinemia
HP:0006297Enamel hypoplasia
HP:0006538Recurrent bronchopulmonary infections
HP:0006970Periventricular leukomalacia
HP:0007034Generalized hyperreflexia
HP:0007256Abnormal pyramidal sign
HP:0007266Cerebral dysmyelination
HP:0007381Congenital exfoliative erythroderma
HP:0007485Absence of subcutaneous fat
HP:0007495Prematurely aged appearance
HP:0007587Numerous pigmented freckles
HP:0007633Bilateral microphthalmos
HP:0008064Ichthyosis
HP:0008386Aplasia/Hypoplasia of the nails
HP:0008391Dystrophic fingernails
HP:0008619Bilateral sensorineural hearing impairment
HP:0009830Peripheral neuropathy
HP:0010551Paraplegia/paraparesis
HP:0011001Increased bone mineral density
HP:0012760Reduced social responsiveness
HP:0025548Increased mean corpuscular hemoglobin concentration
HP:0045055Tiger tail banding
HP:0100275Diffuse cerebellar atrophy
HP:0410219Hypoplasia of mandible relative to maxilla
HP:4000007Bronchoconstriction
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 201 | Worldwide | Case(s) |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)