Congenital ichthyosiform erythroderma

ORPHA:79394DiseaseAutosomal recessiveInfancy, Neonatal

Ассоциированные гены9

Ген	Полное название	Тип связи	Тип гена	OMIM
ABCA12	ATP binding cassette subfamily A member 12	Disease-causing germline mutation(s) in	gene with protein product	607800
ALOX12B	arachidonate 12-lipoxygenase, 12R type	Disease-causing germline mutation(s) in	gene with protein product	603741
ALOXE3	arachidonate epidermal lipoxygenase 3	Disease-causing germline mutation(s) in	gene with protein product	607206
TGM1	transglutaminase 1	Disease-causing germline mutation(s) in	gene with protein product	190195
NIPAL4	NIPA like domain containing 4	Disease-causing germline mutation(s) in	gene with protein product	609383
PNPLA1	patatin like domain 1, omega-hydroxyceramide transacylase	Disease-causing germline mutation(s) in	gene with protein product	612121
CERS3	ceramide synthase 3	Disease-causing germline mutation(s) in	gene with protein product	615276
SULT2B1	sulfotransferase family 2B member 1	Disease-causing germline mutation(s) in	gene with protein product	604125
SDR9C7	short chain dehydrogenase/reductase family 9C member 7	Disease-causing germline mutation(s) in	gene with protein product	609769

Очень частый (80–99%)5

HP:0000656Ectropion

HP:0000966Hypohidrosis

HP:0000989Pruritus

HP:0001019Erythroderma

HP:0008064Ichthyosis

Частый (30–79%)7

HP:0000365Hearing impairment

HP:0000491Keratitis

HP:0000982Palmoplantar keratoderma

HP:0001508Failure to thrive

HP:0001596Alopecia

HP:0001597Abnormality of the nail

HP:0200020Corneal erosion

Периодический (5–29%)1

HP:0004322Short stature

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 1 000 000	0.5	Spain	Value and class
Point prevalence	1-9 / 1 000 000	0.3	Europe	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)