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

SOURCES: ORPHANET OMIM MESH

PIGMENTATION DEFECTS-PALMOPLANTAR KERATODERMA-SKIN CARCINOMA SYNDROME



More info about PIGMENTATION DEFECTS-PALMOPLANTAR KERATODERMA-SKIN CARCINOMA SYNDROME

SOURCES: ORPHANET


Potential gene panels for SASH1 gene

Dyschromatosis universalis hereditaria Panel

Spain.

By Laboratorio de Genetica Clinica SL Dyschromatosis universalis hereditaria that also includes the following genes: SASH1 ABCB6

More info about this panel


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