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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Von Hippel-Lindau disease
1 OMIM reference -
1 associated gene
43 signs/symptoms
Chronic mucocutaneous candidiasis
Von Hippel-Lindau disease

CARD9
(UniProt - OMIM)
 VHL
(UniProt - OMIM)
CLEC7A
(UniProt - OMIM)
ICAM1
(UniProt - OMIM)
IL17F
(UniProt - OMIM)
IL17RA
(UniProt - OMIM)
STAT1
(UniProt - OMIM)
TRAF3IP2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CARD9
(0.68)
VHL


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Von Hippel-Lindau disease
VHL



Chronic mucocutaneous candidiasis
Von Hippel-Lindau disease

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- Familial cerebelloretinal angiomatosis
- Hippel-Lindau disease
- Lindau disease
- VHL
- Von Hippel-Lindau syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
1 MeSH reference: D006623
COMMON
SIGNS 		- Autosomal dominant inheritance
- Motor deficit / trouble

Chronic mucocutaneous candidiasis
Von Hippel-Lindau disease

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Cough
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cerebral vascular anomalies
- Congenital pancreatic cyst
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Mild visual loss / impaired visual acuity
- Nystagmus
- Retinal vascular anomalies / retinal telangiectasia
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Vascular anomalies of skin / mucosae
- Vascular malignancy / tumor
- Visceral angiomatosis (excluding skin)

Frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Multicystic kidney / renal dysplasia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Renal / kidney anomalies
- Sensitive trouble / deficit
- Telangiectasiae of the skin

Occasional
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Cataract / lens opacification
- Chronic arterial hypertension
- Cranial hypertension
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hyperhidrosis / increased sweating
- Middle ear neoplasm / tumor / carcinoma / cancer
- Neoplasms / tumors
- Neuroendocrine tumor / apudoma / carcinoid
- Pheochromocytoma / paraganglioma
- Polycystic kidneys
- Retinal detachment
- Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst
- Structural anomalies of the pancreas
- Visual loss / blindness / amblyopia