Rare Pulmonology News

Disease Profile

Familiar chronic mucocutaneous candidiasis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

CMC; Chronic mucocutaneous candidiasis; Familial candidiasis

Categories

Congenital and Genetic Diseases; Immune System Diseases; Skin Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1334

Definition
Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]

0008388
Broad nail
Broad fingernails
Wide fingernails

[ more ]

0001821
Cheilitis
Inflammation of the lips
0100825
Erythema
0010783
Hyperkeratosis
0000962
Skin rash
0000988
Skin ulcer
Open skin sore
0200042
30%-79% of people have these symptoms
Abnormal vagina morphology
0000142
Dyspareunia
0030016
Papule
0200034
5%-29% of people have these symptoms
Abnormal endocardium morphology
0004306
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of temperature regulation
Poor temperature regulation
0004370
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Cough
Coughing
0012735
Feeding difficulties in infancy
0008872
Hematuria
Blood in urine
0000790
Hemoptysis
Coughing up blood
0002105
Hepatitis
Liver inflammation
0012115
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
Seizure
0001250

Learn more

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.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • The Merck Manual provides information on this condition for patients and caregivers.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Familiar chronic mucocutaneous candidiasis.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Familiar chronic mucocutaneous candidiasis in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.