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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
10 OMIM references -
7 associated genes
33 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Chronic mucocutaneous candidiasis

IKBKG CARD9
NFKBIA CLEC7A
ICAM1
IL17F
IL17RA
STAT1
TRAF3IP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
NFKBIA
(0.86)
(0.63)
TRAF3IP2
STAT1



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Chronic mucocutaneous candidiasis
CARD9 CLEC7A ICAM1 IL17F IL17RA STAT1
TRAF3IP2



Hypohidrotic ectodermal dysplasia with immunodeficiency
Chronic mucocutaneous candidiasis

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Synonym(s):
- CMC
- Chronic mucocutaneous candidosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Certain infectious and parasitic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

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


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)