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

SOURCES: OMIM ORPHANET

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


Potential gene panels for FDPS gene

FDPS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FDPS gene.

More info about this panel

Tempus xT assay Panel

United States.

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 panel


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