Autosomal recessive cutis laxa type 2, classic type
ORPHA:357074Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ATP6V1E1 | ATPase H+ transporting V1 subunit E1 | Disease-causing germline mutation(s) in | gene with protein product | 108746 |
| ATP6V1A | ATPase H+ transporting V1 subunit A | Disease-causing germline mutation(s) in | gene with protein product | 607027 |
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611716 |
Фенотипы (HPO)57
Облигатный (100%)1
HP:0001476Delayed closure of the anterior fontanelle
Очень частый (80–99%)42
HP:0000218High palate
HP:0000253Progressive microcephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0000726Dementia
HP:0000750Delayed speech and language development
HP:0000973Cutis laxa
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001582Redundant skin
HP:0002187Intellectual disability, profound
HP:0002208Coarse hair
HP:0002361Psychomotor deterioration
HP:0002465Poor speech
HP:0002761Generalized joint laxity
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0003196Short nose
HP:0003199Decreased muscle mass
HP:0004322Short stature
HP:0005272Prominent nasolabial fold
HP:0005989Redundant neck skin
HP:0006891Thick cerebral cortex
HP:0007392Excessive wrinkled skin
HP:0007457Prominent veins on trunk
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0008070Sparse hair
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0009125Lipodystrophy
HP:0011003High myopia
HP:0011968Feeding difficulties
HP:0025167Fragmented elastic fibers in the dermis
HP:0100874Thick hair
Частый (30–79%)12
HP:0000023Inguinal hernia
HP:0000486Strabismus
HP:0001250Seizure
HP:0001257Spasticity
HP:0001302Pachygyria
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001339Lissencephaly
HP:0001374Congenital hip dislocation
HP:0002126Polymicrogyria
HP:0025201Abnormal circulating apolipoprotein concentration
HP:0025244Subretinal pigment epithelium hemorrhage
Периодический (5–29%)1
HP:0010989Abnormality of the intrinsic pathway
Исключён (0%)1
HP:0002097Emphysema
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)