Familial multiple trichoepithelioma

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 867
OMIM Id: 601606
612099
ICD-10: D23.3
UMLs: C1275122
MeSH: C536552
MedDRA:
Snomed: 403825008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Brooke-Spiegler syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
2
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
3
 (HPO:0002671) Basal cell carcinoma rare [HPO:skoehler] 18 / 7739
4
 (HPO:0100585) Telangiectasia of the skin Frequent [Orphanet] 66 / 7739
5
 (HPO:0003581) Adult onset 117 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: