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Chronic mucocutaneous candidiasis

ORPHA:1334DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy

Ассоциированные гены (5)

CLEC7A
C-type lectin domain containing 7A
Disease-causing germline mutation(s) in
OMIM: 606264
IL17RA
interleukin 17 receptor A
Disease-causing germline mutation(s) in
OMIM: 605461
IL17F
interleukin 17F
Disease-causing germline mutation(s) in
OMIM: 606496
TRAF3IP2
TRAF3 interacting protein 2
Disease-causing germline mutation(s) in
OMIM: 607043
IL17RC
interleukin 17 receptor C
Disease-causing germline mutation(s) (loss of function) in
OMIM: 610925

Фенотипы (31)

Очень частый (80–99%) — 14
HP:0000153Abnormality of the mouth
HP:0000159Abnormal lip morphology
HP:0000951Abnormality of the skin
HP:0000962Hyperkeratosis
HP:0000988Skin rash
HP:0001231Abnormal fingernail morphology
HP:0001597Abnormality of the nail
HP:0001821Broad nail
HP:0002715Abnormality of the immune system
HP:0002719Recurrent infections
HP:0008388Abnormal toenail morphology
HP:0010783Erythema
HP:0100825Cheilitis
HP:0200042Skin ulcer
Частый (30–79%) — 3
HP:0000142Abnormality of the vagina
HP:0030016Dyspareunia
HP:0200034Papule
Периодический (5–29%) — 14
HP:0000010Recurrent urinary tract infections
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000682Abnormality of dental enamel
HP:0000790Hematuria
HP:0000989Pruritus
HP:0001250Seizure
HP:0002105Hemoptysis
HP:0002205Recurrent respiratory infections
HP:0004306Abnormality of the endocardium
HP:0004370Abnormality of temperature regulation
HP:0008872Feeding difficulties in infancy
HP:0012115Hepatitis
HP:0012735Cough

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials