Lamellar ichthyosis

ORPHA:313DiseaseAutosomal dominant, Autosomal recessiveNeonatal

Ассоциированные гены10

Ген	Полное название	Тип связи	Тип гена	OMIM
SULT2B1	sulfotransferase family 2B member 1	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	604125
ASPRV1	aspartic peptidase retroviral like 1	Disease-causing germline mutation(s) in	gene with protein product	611765
SDR9C7	short chain dehydrogenase/reductase family 9C member 7	Disease-causing germline mutation(s) in	gene with protein product	609769
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
CYP4F22	cytochrome P450 family 4 subfamily F member 22	Disease-causing germline mutation(s) in	gene with protein product	611495
NIPAL4	NIPA like domain containing 4	Disease-causing germline mutation(s) in	gene with protein product	609383
LIPN	lipase family member N	Disease-causing germline mutation(s) in	gene with protein product	613924

Очень частый (80–99%)10

HP:0000656Ectropion

HP:0000958Dry skin

HP:0000962Hyperkeratosis

HP:0000989Pruritus

HP:0001019Erythroderma

HP:0001597Abnormality of the nail

HP:0008064Ichthyosis

HP:0008070Sparse hair

HP:0100679Lack of skin elasticity

HP:0100840Aplasia/Hypoplasia of the eyebrow

Частый (30–79%)2

HP:0000232Everted lower lip vermilion

HP:0011039Abnormality of the helix

Периодический (5–29%)9

HP:0000083Renal insufficiency

HP:0000164Abnormality of the dentition

HP:0000389Chronic otitis media

HP:0001944Dehydration

HP:0002205Recurrent respiratory infections

HP:0004322Short stature

HP:0100543Cognitive impairment

HP:0100758Gangrene

HP:0100806Sepsis

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 1 000 000	—	Europe	Class only
Point prevalence	1-9 / 1 000 000	0.35	Spain	Value and class
Point prevalence	1-9 / 100 000	1.1	Norway	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)