Details of Disease

General Information of Disease (ID: DISS9YGD)

Disease Name Sebocystomatosis
Synonyms multiple sebaceous cysts; sebaceous cysts, multiple; multiplex steatocystoma; STEATOCYSTOMA multiplex; Steatocystoma multiplex
Definition Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.
Disease Hierarchy
DIS8UM81: Sebaceous gland disease
DISSCALK: Hereditary skin disorder
DISS9YGD: Sebocystomatosis
Disease Identifiers
MONDO ID
MONDO_0008485
MESH ID
D062685
UMLS CUI
C0259771
OMIM ID
184500
MedGen ID
75476
HPO ID
HP:0012035
Orphanet ID
841
SNOMED CT ID
109433009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KRT17 TTKV0EC Strong Genetic Variation [1]
KRT17 TTKV0EC Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KRT17 OT6Y1DPK Definitive Autosomal dominant [2]
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References

1 Keratin 17 in disease pathogenesis: from cancer to dermatoses.J Pathol. 2019 Feb;247(2):158-165. doi: 10.1002/path.5178. Epub 2018 Dec 7.
2 Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315.