Generalized basaloid follicular hamartoma syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GBFHS
Number of Symptoms 9
OrphanetNr: 168632
OMIM Id: 605827
ICD-10: Q82.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic skin tumor
 -Rare genetic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0010610) Palmar pits 3 / 7739
2
 (HPO:0200034) Papule 12 / 7739
3
 (HPO:0004782) Hypotrichosis of the scalp 7 / 7739
4
 (HPO:0000966) Hypohidrosis 41 / 7739
5
 (HPO:0010566) Hamartoma 7 / 7739
6
 (OMIM) Multiple papules (milium-like, comedo-like) 1 / 7739
7
 (OMIM) Mulitple papules (1-2 mm skin colored and hyperpigmented) 1 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Basaloid follicular harmartomas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wheeler et al. (2000) described an 8-year-old girl who presented with hundreds of milia; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms, along with diffuse scalp hypotrichosis; and pinpoint ...