FDPS gene related symptoms and diseases
All the information presented here about the FDPS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FDPS gene
Symptoms // Phenotype | % Cases |
---|---|
Porokeratosis | Very Common - Between 80% and 100% cases |
Carcinoma | Uncommon - Between 30% and 50% cases |
Pruritus | Uncommon - Between 30% and 50% cases |
Cutaneous photosensitivity | Uncommon - Between 30% and 50% cases |
Squamous cell carcinoma | Uncommon - Between 30% and 50% cases |
Rare diseases associated to FDPS gene
Here you will find a list of rare diseases related to the FDPS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
Alternate names
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS Is also known as porokeratosis, disseminated superficial actinic, 2, dsap2
Description
Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
Most common symptoms of DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
- Carcinoma
- Pruritus
- Cutaneous photosensitivity
- Squamous cell carcinoma
- Porokeratosis
More info about DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
POROKERATOSIS 9, MULTIPLE TYPES; POROK9
Description
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.Mutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP).For a discussion of genetic heterogeneity of porokeratosis, see {174800}.
Most common symptoms of POROKERATOSIS 9, MULTIPLE TYPES; POROK9
- Porokeratosis
More info about POROKERATOSIS 9, MULTIPLE TYPES; POROK9
SOURCES: OMIM
Search interest in FDPS
Potential gene panels for FDPS gene
FDPS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FDPS gene.
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
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 MYLK ATXN3 KNL1 NPHS1 CC2D2A COQ2 SGSH