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10 OMIM references -
7 associated genes
33 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Chronic mucocutaneous candidiasis
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

CARD9 RPS14
CLEC7A
ICAM1
IL17F
IL17RA
STAT1
TRAF3IP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ICAM1
(0.63)
RPS14



Citations in the biomedical literature:


Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
RPS14



Chronic mucocutaneous candidiasis
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis

Synonym(s):
- 5q- syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Certain infectious and parasitic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
10 OMIM references -
1 MeSH reference: D002178
External references:
1 OMIM reference -
No MeSH references

Chronic mucocutaneous candidiasis

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Anomalies of mouth, lip and philtrum
- Anomalies of skin, subcutaneous tissue and mucosae
- Anomalies of the immunitary system
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cutaneous rash
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nails anomalies
- Oral mucosa disease / cheilitis

Frequent
- Dyspareunia / coital pain / vaginal dryness
- Follicular / erythematous / edematous papules / milium
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anomalies of eyes and vision
- Cough
- Enamel anomaly
- Endocardium anomalies / fibroelastosis / endocarditis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fever / chilling
- Hematuria / microhematuria
- Hemoptysis
- Hepatitis / icterus / cholestasis
- Motor deficit / trouble
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Pruritus / itching
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus


Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

(no data available)