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Chronic mucocutaneous candidiasis
10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Congenital bile acid synthesis defect type 1
1 OMIM reference -
1 associated gene
17 signs/symptoms
Chronic mucocutaneous candidiasis
Congenital bile acid synthesis defect type 1

CARD9
(UniProt - OMIM)
 HSD3B7
(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)
ICAM1
(0.63)
HSD3B7


Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Congenital bile acid synthesis defect type 1
HSD3B7



Chronic mucocutaneous candidiasis
Congenital bile acid synthesis defect type 1

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis
Synonym(s):
- 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Diseases of the digestive system -
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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
1 MeSH reference: C535442
COMMON
SIGNS 		- Hepatitis / icterus / cholestasis
- Pruritus / itching

Chronic mucocutaneous candidiasis
Congenital bile acid synthesis defect type 1

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
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Functional anomalies of the liver and the biliary tract
- Hepatomegaly / liver enlargement (excluding storage disease)
- Malabsorption / chronic diarrhea / steatorrhea

Frequent
- Clotting / hemostasis disorders
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Splenomegaly

Occasional
- Cirrhosis
- Early death / lethality
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Night blindness / hemeralopia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Peripheral neuropathy