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Sebocystomatosis
1 OMIM reference -
1 associated gene
29 connected diseases
4 signs/symptoms
Disease Type of connection
Pachyonychia congenita
Giant cell glioblastoma
Gliosarcoma
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Young adult-onset Parkinsonism
APC-related attenuated familial adenomatous polyposis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Congenital bilateral absence of vas deferens
Cystic fibrosis
Dedifferentiated liposarcoma
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Hereditary chronic pancreatitis
Hypohidrotic ectodermal dysplasia with immunodeficiency
Idiopathic bronchiectasis
Incontinentia pigmenti
Juvenile myelomonocytic leukemia
Leber congenital amaurosis
Male infertility with normal virilization due to meiosis defect
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Senior-Loken syndrome
Turcot syndrome with polyposis
Well-differentiated liposarcoma
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Synonym(s):
- Steatocystoma multiplex
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KRT17 Q04695148069
Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

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