DSP gene related symptoms and diseases

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

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to DSP gene

Symptoms // Phenotype	% Cases
Palmoplantar keratoderma	Uncommon - Between 30% and 50% cases
Woolly hair	Uncommon - Between 30% and 50% cases
Cardiomyopathy	Uncommon - Between 30% and 50% cases
Congestive heart failure	Uncommon - Between 30% and 50% cases
Ventricular tachycardia	Rare - less than 30% cases

Other less frequent symptoms and clinical features

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

Rarely - Less than 30% cases
Acantholysis
Abnormal EKG
Dilated cardiomyopathy
Hyperkeratosis
Skin vesicle
Fragile skin
Nail dystrophy
Clubbing of fingers

And 131 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DSP gene

Here you will find a list of rare diseases related to the DSP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

IDIOPATHIC PULMONARY FIBROSIS

Alternate names

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa, uip, usual interstitial pneumonia, interstitial pneumonitis, usual, idiopathic pulmonary fibrosis, familial, cryptogenic fibrosing alveolitis, fibrosing alveolitis, cryptogenic, fibrocystic pulmonary dysplasia

Description

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

Neoplasm
Hypertension
Fever
Respiratory insufficiency
Respiratory distress

More info about IDIOPATHIC PULMONARY FIBROSIS

SOURCES: OMIM ORPHANET

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

Alternate names

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 Is also known as arrhythmogenic right ventricular cardiomyopathy 8, arvc8

Description

ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see {107970}.

Most common symptoms of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

Congestive heart failure
Arrhythmia
Tachycardia
Sudden cardiac death
Syncope

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

SOURCES: OMIM MESH

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

Alternate names

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Description

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

Most common symptoms of SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

Failure to thrive
Cardiomyopathy
Alopecia
Dilated cardiomyopathy
Nail dystrophy

More info about SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

SOURCES: MESH OMIM ORPHANET

CARVAJAL SYNDROME

Alternate names

CARVAJAL SYNDROME Is also known as keratoderma with woolly hair type ii, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair, woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome, wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome,

Description

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.

Most common symptoms of CARVAJAL SYNDROME

Cardiomyopathy
Edema
Congestive heart failure
Hyperkeratosis
Dilated cardiomyopathy

More info about CARVAJAL SYNDROME

SOURCES: OMIM ORPHANET

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

Alternate names

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA Is also known as lethal acantholytic epidermolysis bullosa, laeb

Description

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.

Most common symptoms of LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

Cardiomyopathy
Syndactyly
Clinodactyly
Alopecia
Respiratory failure

More info about LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

SOURCES: ORPHANET MESH OMIM

KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

Alternate names

KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 Is also known as striate palmoplantar keratoderma ii, sppk2, keratoderma, palmoplantar, striate form ii, kpps2

Description

PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999).For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (OMIM ).

Most common symptoms of KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

Hyperkeratosis
Palmoplantar keratoderma
Epidermal acanthosis
Scaling skin
Skin vesicle

More info about KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

SOURCES: OMIM MESH

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

Alternate names

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME Is also known as congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome, sam syndrome, severe dermatitis, multiple allergies, and metabolic wasting syndrome

Description

Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.

Most common symptoms of SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

Microcephaly
Growth delay
Ventricular septal defect
Recurrent infections
Recurrent respiratory infections

More info about SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

SOURCES: OMIM ORPHANET

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

Most common symptoms of CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

Pain
Cardiomyopathy
Congestive heart failure
Dilatation
Arrhythmia

More info about CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

SOURCES: OMIM

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

SOURCES: ORPHANET

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

SOURCES: ORPHANET

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM Is also known as familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form, familial isolated arrhythmogenic ventricular dysplasia, classic form, familial isolated arrhythmogenic ventricular cardiomyopathy, classic form

More info about FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

SOURCES: ORPHANET

ERYTHROKERATODERMIA-CARDIOMYOPATHY SYNDROME

Alternate names

ERYTHROKERATODERMIA-CARDIOMYOPATHY SYNDROME Is also known as ekc syndrome

Description

Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.

More info about ERYTHROKERATODERMIA-CARDIOMYOPATHY SYNDROME

SOURCES: ORPHANET

STRIATE PALMOPLANTAR KERATODERMA

Alternate names

STRIATE PALMOPLANTAR KERATODERMA Is also known as keratosis palmoplantaris striata et areata, keratosis palmoplantaris varians of wachters, keratosis palmoplantaris striata

Description

Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.

Most common symptoms of STRIATE PALMOPLANTAR KERATODERMA

Palmoplantar keratoderma
Abnormality of the hair
Abnormality of the nail

More info about STRIATE PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET

Search interest in DSP

Potential gene panels for DSP gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

DSP gene related symptoms and diseases

Top 5 symptoms and clinical features associated to DSP gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Accelerate your rare disease diagnosis with us

Rare diseases associated to DSP gene

IDIOPATHIC PULMONARY FIBROSIS

Alternate names

Description

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

Alternate names

Description

Most common symptoms of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

Alternate names

Description

Most common symptoms of SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

CARVAJAL SYNDROME

Alternate names

Description

Most common symptoms of CARVAJAL SYNDROME

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

Alternate names

Description

Most common symptoms of LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

Alternate names

Description

Most common symptoms of KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2

SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

Alternate names

Description

Most common symptoms of SEVERE DERMATITIS-MULTIPLE ALLERGIES-METABOLIC WASTING SYNDROME

CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

Most common symptoms of CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, LEFT DOMINANT FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM

Alternate names

FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, RIGHT DOMINANT FORM

Alternate names

ERYTHROKERATODERMIA-CARDIOMYOPATHY SYNDROME

Alternate names

Description

STRIATE PALMOPLANTAR KERATODERMA

Alternate names

Description

Most common symptoms of STRIATE PALMOPLANTAR KERATODERMA

Search interest in DSP

Potential gene panels for DSP gene

MitoMet®Plus aCGH Analysis Panel

Comprehensive Cardiac Panel Panel

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

Arrhythmogenic Right Ventricular Dysplasia 8 - DSP Sequencing Panel

Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8 Panel

ARVC panel Panel

Arrhythmogenic right ventricular cardiomyopathy - full panel Panel

Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis Panel

Pan-cardiomyopathy panel Panel

Cardiomyopathy Panel Panel

Dilated Cardiomyopathy Panel Panel

Arrhythmogenic Right Ventricular Cardiomyopathy Panel

Arrhymogenic Right Ventricular Cardiomyopathy Panel Panel

EBSeq Epidermolysis Bullosa Panel Panel

DSP Gene Sequencing Panel

DSP Deletion/duplication analysis Panel

EB (Epidermolysis Bullosa) Deletion/Duplication panel Panel

ARVC panel Panel

Targeted CM panel Panel

Cardiac Arrhythmia Gene Panel Panel

DSP Panel

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel

Pan Cardiomyopathy Panel (62 Genes) Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Arrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel Panel

Arrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel Panel

Comprehensive Cardiomyopathy Panel Panel

Comprehensive Arrhythmia Panel Panel

ARVCNext Panel