ORPHA:1334
Chronic mucocutaneous candidiasis
Synonyms: CMC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic mucocutaneous candidiasis | CMC |
| fr | Candidose cutanéo-muqueuse chronique | = en |
| de | Candidose, chronische mukokutane | = en |
| es | Candidiasis crónica familiar | |
| it | Candidiasi cronica mucocutanea | = en |
| nl | Chronische mucocutane candidiasis | CMC · Chronische mucocutane candidose |
| pt | Candidíase mucocutânea crónica | = en |
| pl | Przewlekła kandydoza błon śluzowych i skóry | CMC · Przewlekła kandydoza śluzowo-skórna |
| cs | Chronická mukokutánní kandidóza | = en |
| uk | Хронічний кандидоз слизових оболонок | = en |
| zh | 慢性粘膜皮肤念珠菌病 | = en |
| tr | Kronik mukokutanöz kandidiyaz | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114580 | E | validated | |
| OMIM | 247650 | BTNT | validated | |
| OMIM | 252250 | BTNT | validated | |
| OMIM | 607644 | BTNT | validated | |
| OMIM | 613108 | BTNT | validated | |
| OMIM | 613953 | BTNT | validated | |
| OMIM | 613956 | BTNT | validated | |
| OMIM | 615527 | BTNT | validated | |
| OMIM | 616445 | BTNT | validated | |
| ICD-10 | B37.2 | NTBT | attributed | validated |
| ICD-11 | 1F23.14 | E | specific | validated |
| MONDO | 0015279 | E | validated | |
| MeSH | D002178 | E | validated | |
| UMLS | C0006845 | E | validated | |
| GARD | 1077 | E | validated | |
| MedDRA | 10009007 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL17RC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18358 | ENSG00000163702 | 610925 | 3p25.3 | interleukin 17 receptor C | 25918342[PMID] |
| CLEC7A | Disease-causing germline mutation(s) in | Assessed | HGNC:14558 | ENSG00000172243 | 606264 | 12p13.2 | C-type lectin domain containing 7A | 19864674[PMID] |
| IL17F | Disease-causing germline mutation(s) in | Assessed | HGNC:16404 | ENSG00000112116 | 606496 | 6p12.2 | interleukin 17F | 21350122[PMID] |
| IL17RA | Disease-causing germline mutation(s) in | Assessed | HGNC:5985 | ENSG00000177663 | 605461 | 22q11.1 | interleukin 17 receptor A | 21350122[PMID] |
| TRAF3IP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1343 | ENSG00000056972 | 607043 | 6q21 | TRAF3 interacting protein 2 | 24120361[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000159 | Abnormal lip morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0000153 | Abnormality of the mouth | |
| HP:0000951 | Abnormality of the skin | |
| HP:0001821 | Broad nail | |
| HP:0100825 | Cheilitis | |
| HP:0010783 | Erythema | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002719 | Recurrent infections | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0000142 | Abnormality of the vagina | |
| HP:0030016 | Dyspareunia | |
| HP:0200034 | Papule | |
| Occasional (29-5%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0012735 | Cough | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000790 | Hematuria | |
| HP:0002105 | Hemoptysis | |
| HP:0012115 | Hepatitis | |
| HP:0000989 | Pruritus | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1334
- This record as JSON: /data/d/1334.json