Large/giant congenital melanocytic nevus

ORPHA:626DiseaseMultigenic/multifactorialInfancy, Neonatal

Ассоциированные гены7

Ген	Полное название	Тип связи	Тип гена	OMIM
ZEB2	zinc finger E-box binding homeobox 2	Part of a fusion gene in	gene with protein product	605802
BRAF	B-Raf proto-oncogene, serine/threonine kinase	Part of a fusion gene in	gene with protein product	164757
RAF1	Raf-1 proto-oncogene, serine/threonine kinase	Part of a fusion gene in	gene with protein product	164760
ALK	ALK receptor tyrosine kinase	Part of a fusion gene in	gene with protein product	105590
NRAS	NRAS proto-oncogene, GTPase	Disease-causing somatic mutation(s) in	gene with protein product	164790
SOX5	SRY-box transcription factor 5	Part of a fusion gene in	gene with protein product	604975
BRAF	B-Raf proto-oncogene, serine/threonine kinase	Disease-causing somatic mutation(s) in	gene with protein product	164757

Очень частый (80–99%)3

HP:0001000Abnormality of skin pigmentation

HP:0003764Nevus

HP:0005600Congenital giant melanocytic nevus

Частый (30–79%)3

HP:0000958Dry skin

HP:0000970Anhidrosis

HP:0001058Poor wound healing

Периодический (5–29%)12

HP:0000238Hydrocephalus

HP:0000708Atypical behavior

HP:0000989Pruritus

HP:0000998Hypertrichosis

HP:0001053Hypopigmented skin patches

HP:0001250Seizure

HP:0001482Subcutaneous nodule

HP:0002176Spinal cord compression

HP:0002315Headache

HP:0002516Increased intracranial pressure

HP:0012056Cutaneous melanoma

HP:0012758Neurodevelopmental delay

Очень редкий (1–4%)3

HP:0000028Cryptorchidism

HP:0004912Hypophosphatemic rickets

HP:0010314Premature thelarche

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 100 000	2.75	Europe	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)