SASH1 gene related symptoms and diseases
All the information presented here about the SASH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SASH1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypermelanotic macule | Uncommon - Between 30% and 50% cases |
Rare diseases associated to SASH1 gene
Here you will find a list of rare diseases related to the SASH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL GENERALIZED LENTIGINOSIS
Alternate names
FAMILIAL GENERALIZED LENTIGINOSIS Is also known as lentiginosis, diffuse, lentiginosis profusa, familial lentigines profusa, lentiginosis, generalized, familial multiple lentigines syndrome without systemic involvement
Description
Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.
Most common symptoms of FAMILIAL GENERALIZED LENTIGINOSIS
- Hypermelanotic macule
More info about FAMILIAL GENERALIZED LENTIGINOSIS
PIGMENTATION DEFECTS-PALMOPLANTAR KERATODERMA-SKIN CARCINOMA SYNDROME
Search interest in SASH1
Potential gene panels for SASH1 gene
Dyschromatosis universalis hereditaria Panel
By Laboratorio de Genetica Clinica SL Dyschromatosis universalis hereditaria that also includes the following genes: SASH1 ABCB6
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITIH4 OTX2 FIG4 PHYKPL EPHX1 SSR4 PTH1R