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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
25 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Pachyonychia congenita

IKBKG KRT16
NFKBIA KRT17
KRT6A
KRT6B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.63)
KRT17



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Pachyonychia congenita
KRT16 KRT17 KRT6A KRT6B



Hypohidrotic ectodermal dysplasia with immunodeficiency
Pachyonychia congenita

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

Synonym(s):
- PC

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D053549

Pachyonychia congenita

Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enanthema / aphtosa / aphta / leukoplakia
- Hair and scalp anomalies
- Hyperhidrosis / increased sweating
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Ichthyosis / ichthyosiform dermatitis
- Multiple caries
- Skin tumors / lumps / epidermal cysts
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal fingernails
- Alopecia
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal dystrophy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction


Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)