The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the fingernails||90%|
|Abnormality of the toenails||90%|
|Abnormality of the vagina||50%|
|Abnormality of dental enamel||7.5%|
|Abnormality of temperature regulation||7.5%|
|Abnormality of the endocardium||7.5%|
|Abnormality of the eye||7.5%|
|Abnormality of the liver||7.5%|
|Feeding difficulties in infancy||7.5%|
|Recurrent respiratory infections||7.5%|
|Recurrent urinary tract infections||7.5%|
|Abnormality of blood and blood-forming tissues||-|
|Abnormality of the nail||-|
|Autosomal recessive inheritance||-|
|Chronic oral candidiasis||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Candidiasis familial chronic mucocutaneous, autosomal recessive. If you have a question about any of these diseases, you can contact GARD.