SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 601700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Sebaceous gland hyperplasia 2 / 7739
4
(HPO:0003674) Onset 32 / 7739
5
(OMIM) Soft, yellow, umbilicated facial papules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sebaceous gland hyperplasia presents as one or more elevated, soft, yellow papules with central umbilication on the face, particularly the forehead. Lesions may spread to the neck and upper part of the thorax. Sebaceous gland hyperplasia occurs frequently ...
Clinical Description OMIM Dupre et al. (1980) described 2 brothers with premature sebaceous gland hyperplasia of the face with onset during puberty. The disorder showed slow progression and a confluence of lesions resulted in the formation of large plaques on the ...