KDSR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to KDSR gene

Symptoms // Phenotype % Cases
Erythema Very Common - Between 80% and 100% cases
Epidermal acanthosis Common - Between 50% and 80% cases
Thickened skin Common - Between 50% and 80% cases
Palmoplantar hyperkeratosis Common - Between 50% and 80% cases
Scaling skin Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KDSR gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

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

  • Pneumonia
  • Neoplasm of the skin
  • Cutaneous photosensitivity
  • Hypertrichosis
  • Abnormality of the hair
  • Abnormality of the nail
  • Generalized hirsutism

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KDSR gene

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


ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4


Description

Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017).For a discussion of genetic heterogeneity of EKVP, see EKVP1 (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4

  • Pneumonia
  • Erythema
  • Epidermal acanthosis
  • Thickened skin
  • Palmoplantar hyperkeratosis


More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4

SOURCES: OMIM

ERYTHROKERATODERMIA VARIABILIS


Alternate names

ERYTHROKERATODERMIA VARIABILIS Is also known as psek, erythrokeratodermia variabilis et progressiva, ekvp, ekv, erythrokeratodermia variabilis, mendes da costa type, erythrokeratodermia figurata, congenital familial, in plaques, erythrokeratodermia, progressive symmetric, erythrokeratodermia variabilis with e

Description

The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

Most common symptoms of ERYTHROKERATODERMIA VARIABILIS

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


More info about ERYTHROKERATODERMIA VARIABILIS

SOURCES: OMIM ORPHANET

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA


Alternate names

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA Is also known as darier-gottron disease, progressive symmetric erythrokeratodermia, gottron type, erythrokeratodermia progressiva symmetrica

Most common symptoms of PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA

  • Erythema
  • Palmoplantar keratoderma
  • Skin plaque


More info about PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA

SOURCES: ORPHANET


Potential gene panels for KDSR gene

KDSR Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KDSR gene.

More info about this panel

Ichthyosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Erythrokeratodermias and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Comprehensive panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders NGS panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Deletion / Duplication panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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