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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Sebocystomatosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

KRT17 IKBKG


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Sebocystomatosis
KRT17
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG



Sebocystomatosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

Synonym(s):
- Steatocystoma multiplex

Synonym(s):
- OL-EDA-ID

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

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

Sebocystomatosis

Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Occasional
- Urinary / renal lithiasis / kidney stones / nephritic colic


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)