Chronic mucocutaneous candidiasis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMC Chronic mucocutaneous candidosis |
| Number of Symptoms | 37 |
| OrphanetNr: | 1334 |
| OMIM Id: |
114580
212050 247650 252250 607644 613108 613953 613956 614162 615527 |
| ICD-10: |
B37.2 |
| UMLs: |
C0006845 |
| MeSH: |
D002178 |
| MedDRA: |
10009007 |
| Snomed: |
234568006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic immune deficiency with skin involvement
-Rare genetic disease Genetic susceptibility to infections due to particular pathogens -Rare genetic disease -Rare immune disease Immune deficiency with skin involvement -Rare skin disease |
Symptom Information:
|
|
(HPO:0000010) | Recurrent urinary tract infections | Occasional [Orphanet] | 56 / 7739 | |||
|
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(HPO:0011037) | Decreased urine output | Occasional [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0000142) | Abnormality of the vagina | Frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0000790) | Hematuria | Occasional [Orphanet] | 106 / 7739 | |||
|
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(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0100825) | Cheilitis | Very frequent [Orphanet] | 20 / 7739 | |||
|
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(HPO:0006480) | Premature loss of teeth | 23 / 7739 | ||||
|
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(HPO:0000153) | Abnormality of the mouth | Very frequent [Orphanet] | 60 / 7739 | |||
|
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(HPO:0000478) | Abnormality of the eye | Occasional [Orphanet] | 126 / 7739 | |||
|
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
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(HPO:0011442) | Abnormality of central motor function | Occasional [Orphanet] | 76 / 7739 | |||
|
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(HPO:0002015) | Dysphagia | Occasional [Orphanet] | 301 / 7739 | |||
|
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(HPO:0000818) | Abnormality of the endocrine system | 26 / 7739 | ||||
|
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(HPO:0001396) | Cholestasis | Occasional [Orphanet] | 136 / 7739 | |||
|
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(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
|
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(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
|
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(HPO:0002728) | Chronic mucocutaneous candidiasis | 14 / 7739 | ||||
|
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(HPO:0008388) | Abnormality of the toenails | Very frequent [Orphanet] | 28 / 7739 | |||
|
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(HPO:0000989) | Pruritus | Occasional [Orphanet] | 111 / 7739 | |||
|
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
|
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
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(HPO:0000988) | Skin rash | Very frequent [Orphanet] | 98 / 7739 | |||
|
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001596) | Alopecia | 162 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0004306) | Abnormality of the endocardium | Occasional [Orphanet] | 24 / 7739 | |||
|
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(HPO:0002965) | Cutaneous anergy | 7 / 7739 | ||||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0002105) | Hemoptysis | Occasional [Orphanet] | 30 / 7739 | |||
|
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
|
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
|
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(HPO:0002715) | Abnormality of the immune system | Very frequent [Orphanet] | 46 / 7739 | |||
|
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(HPO:0004429) | Recurrent viral infections | 20 / 7739 | ||||
|
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([DEL]MedDRA:10011224) | Cough | Occasional [Orphanet] | 70 / 7739 | |||
|
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(HPO:0030350) | Erythematous papule | Frequent [Orphanet] | 123 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|