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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
1 OMIM reference -
1 associated gene
23 signs/symptoms
Chronic mucocutaneous candidiasis
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

CARD9
(UniProt - OMIM)
 IGBP1
(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)
STAT1
(0.63)
IGBP1


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
IGBP1



Chronic mucocutaneous candidiasis
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- Graham-Cox syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
No MeSH references
Chronic mucocutaneous candidiasis
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Autosomal dominant inheritance
- 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
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Anomalies of ear and hearing
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Pectus excavatum
- Scoliosis
- Sensorineural deafness / hearing loss
- Short neck
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Frequent
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- High nasal bridge
- High vaulted / narrow palate
- Patent ductus arteriosus
- Ventricular septal defect / interventricular communication