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Disease Profile

Autosomal dominant candidiasis familial chronic mucocutaneous

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT ; Candidiasis Familial, 7; CANDF7;

Summary

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

Orpha Number: 391487

Definition
An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

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
Chronic mucocutaneous candidiasis
0002728
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Functional abnormality of the bladder
0000009
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Autoimmune hemolytic anemia
0001890
B lymphocytopenia
Low B cell count
0010976
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Carotid artery dilatation
0012163
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Diarrhea
Watery stool
0002014
Dilatation of the cerebral artery
0004944
Eczema
0000964
Enterocolitis
0004387
Generalized osteoporosis
0040160
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Immune dysregulation
Unregulated immune response
0002958
Immunodeficiency
Decreased immune function
0002721
Osteopenia
0000938
Primary hypothyroidism
0000832
Recurrent herpes
Susceptibility to herpesvirus
0005353
Renal artery stenosis
Narrowing of kidney artery
0001920
Renovascular hypertension
0100817
Thyroiditis
Thyroid gland inflammation
0100646
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
Villous atrophy
0011473
5%-29% of people have these symptoms
Abnormal serum interferon-gamma level
0030355
Antiphospholipid antibody positivity
0003613
Autoimmune thrombocytopenia
0001973
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Diabetes mellitus
0000819
Encephalitis
Brain inflammation
0002383
Esophageal carcinoma
0011459
Hepatitis
Liver inflammation
0012115
Hypothyroidism
Underactive thyroid
0000821
Medial calcification of large arteries
0004966
Neutropenia in presence of anti-neutropil antibodies
0001904
Oropharyngeal squamous cell carcinoma
0012182
Patent foramen ovale
0001655
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Recurrent Aspergillus infections
0002724
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205

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

  • Genetics Home Reference (GHR) contains information on Autosomal dominant candidiasis familial chronic mucocutaneous. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has 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.