Familiar Chronic Mucocutaneous Candidiasis (CMC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familiar Chronic Mucocutaneous Candidiasis

MalaCards integrated aliases for Familiar Chronic Mucocutaneous Candidiasis:

Name: Familiar Chronic Mucocutaneous Candidiasis 53
Familial Candidiasis 53 25
Familial Chronic Mucocutaneous Candidiasis 25
Chronic Mucocutaneous Candidiasis 53
Cmc 53


Summaries for Familiar Chronic Mucocutaneous Candidiasis

Genetics Home Reference : 25 Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis. Candida Candida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system. Candida Candida Most people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash. Depending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening. Chronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.

MalaCards based summary : Familiar Chronic Mucocutaneous Candidiasis, also known as familial candidiasis, is related to candidiasis and immunodeficiency 51. An important gene associated with Familiar Chronic Mucocutaneous Candidiasis is CANDF1 (Candidiasis, Familial 1). The drugs Miconazole and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and spinal cord.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1334DefinitionChronic 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.

Related Diseases for Familiar Chronic Mucocutaneous Candidiasis

Diseases related to Familiar Chronic Mucocutaneous Candidiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 candidiasis 29.1 CANDN1 CANDF1
2 immunodeficiency 51 12.3
3 candidiasis, familial, 4 12.2
4 candidiasis, familial, 2 12.1
5 chronic mucocutaneous candidiasis 12.1
6 candidiasis, familial, 6 11.9
7 chudley-mccullough syndrome 11.8
8 candidiasis, familial, 8 11.7
9 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.6
10 capillary malformations, congenital 11.5
11 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.4
12 candidiasis, familial, 1 11.2
13 immunodeficiency 31c 11.2
14 polyendocrinopathy 10.6
15 thymoma, familial 10.6
16 oral candidiasis 10.6
17 thymoma 10.6
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
19 hypoparathyroidism 10.5
20 allergic hypersensitivity disease 10.5
21 hypothyroidism 10.5
22 esophagitis 10.4
23 autoimmune polyendocrine syndrome 10.4
24 iron metabolism disease 10.4
25 dermatophytosis 10.4
26 bronchiectasis 10.4
27 alopecia 10.4
28 osteoarthritis 10.4
29 autoimmune disease 10.3
30 keratitis, hereditary 10.3
31 immunoglobulin alpha deficiency 10.3
32 intracranial aneurysm 10.3
33 histoplasmosis 10.3
34 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
35 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
36 cryptococcosis 10.3
37 hemolytic anemia 10.3
38 alopecia areata 10.3
39 aneurysm 10.3
40 esophageal cancer 10.2
41 systemic lupus erythematosus 10.2
42 autoimmune polyendocrine syndrome type 1 10.2
43 hyper ige syndrome 10.2
44 bacterial infectious disease 10.2
45 thymic carcinoma 10.2
46 combined t cell and b cell immunodeficiency 10.2
47 lung disease 10.2
48 lupus erythematosus 10.2
49 meningitis 10.2
50 cytokine deficiency 10.2

Graphical network of the top 20 diseases related to Familiar Chronic Mucocutaneous Candidiasis:

Diseases related to Familiar Chronic Mucocutaneous Candidiasis

Symptoms & Phenotypes for Familiar Chronic Mucocutaneous Candidiasis

Drugs & Therapeutics for Familiar Chronic Mucocutaneous Candidiasis

Drugs for Familiar Chronic Mucocutaneous Candidiasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
Epinephrine Approved, Vet_approved 51-43-4 5816
Racepinephrine Approved 329-65-7 838
4 Antifungal Agents
5 Anti-Bacterial Agents
6 Tin Fluorides
7 Antibiotics, Antitubercular
8 Epinephryl borate

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
2 The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections Recruiting NCT01386437
3 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056

Search NIH Clinical Center for Familiar Chronic Mucocutaneous Candidiasis

Genetic Tests for Familiar Chronic Mucocutaneous Candidiasis

Anatomical Context for Familiar Chronic Mucocutaneous Candidiasis

MalaCards organs/tissues related to Familiar Chronic Mucocutaneous Candidiasis:

Brain, Skin, Spinal Cord

Publications for Familiar Chronic Mucocutaneous Candidiasis

Articles related to Familiar Chronic Mucocutaneous Candidiasis:

# Title Authors PMID Year
[Mucocutaneous candidosis in a patient with Sjögren syndrome]. 38
10868017 2000
[Familial chronic mucocutaneous candidiasis associated with autoimmune polyendocrinopathy. Treatment with fluconazole: 3 cases]. 38
10095896 1999
Evidence for defective immunoregulation in the syndrome of familial candidiasis endocrinopathy. 38
310512 1979

Variations for Familiar Chronic Mucocutaneous Candidiasis

Expression for Familiar Chronic Mucocutaneous Candidiasis

Search GEO for disease gene expression data for Familiar Chronic Mucocutaneous Candidiasis.

Pathways for Familiar Chronic Mucocutaneous Candidiasis

GO Terms for Familiar Chronic Mucocutaneous Candidiasis

Sources for Familiar Chronic Mucocutaneous Candidiasis

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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