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  3. MVD

MVD gene related symptoms and diseases

All the information presented here about the MVD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MVD 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

Other less frequent symptoms and clinical features

Patients with MVD gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Papule
  • Parakeratosis

Rare diseases associated to MVD gene

Here you will find a list of rare diseases related to the MVD. 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 7, MULTIPLE TYPES; POROK7

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 MVD gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis.The preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.'Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).For a discussion of genetic heterogeneity of porokeratosis, see {175800}.

Most common symptoms of POROKERATOSIS 7, MULTIPLE TYPES; POROK7

  • Papule
  • Parakeratosis
  • Porokeratosis


More info about POROKERATOSIS 7, MULTIPLE TYPES; POROK7

SOURCES: OMIM


Potential gene panels for MVD gene

MVD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MVD gene.

More info about this panel
United States.

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