KRT1 gene related symptoms and diseases

All the information presented here about the KRT1 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 KRT1 gene

Symptoms // Phenotype % Cases
Palmoplantar keratoderma Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Erythroderma Common - Between 50% and 80% cases
Erythema Common - Between 50% and 80% cases
Congenital ichthyosiform erythroderma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KRT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Ichthyosis
  • Congenital bullous ichthyosiform erythroderma
  • Palmoplantar hyperkeratosis
  • Scaling skin
  • Rarely - Less than 30% cases

  • Nonepidermolytic palmoplantar keratoderma
  • Abnormal blistering of the skin
  • Epidermal acanthosis
  • Diffuse palmoplantar keratoderma

And 50 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KRT1 gene

Here you will find a list of rare diseases related to the KRT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPIDERMOLYTIC PALMOPLANTAR KERATODERMA


Alternate names

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk, keratosis palmaris et plantaris familiaris, diffuse erythrodermic palmoplantar keratoderma, vÖrner type, epidermolytic palmoplantar keratoderma of voerner, keratosis of greither, ppke, epidermolytic palmoplantar keratoderma of vÖrner, diffuse erythrodermic

Description

Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

Most common symptoms of EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

  • Neoplasm
  • Abnormality of the dentition
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


More info about EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET OMIM

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Alternate names

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock, epidermolytic ichthyosis, bie, bullous congenital ichthyosiform erythroderma, ehk, bullous erythroderma ichthyosiformis congenita of brocq, bcie, bullous ichthyosiform erythroderma, ichthyosis hystrix brocq

Description

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

Most common symptoms of AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

SOURCES: OMIM ORPHANET

NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA


Alternate names

NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as ppkne, nonepidermolytic palmoplantar keratoderma, autosomal dominant diffuse palmoplantar keratoderma, norrbotten type, neppk, diffuse palmoplantar keratoderma, bothnian type, keratoderma, nonepidermolytic palmoplantar, tylosis

Description

Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.

Most common symptoms of NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

  • Hyperkeratosis
  • Erythema
  • Papule
  • Pruritus
  • Palmoplantar keratoderma


More info about NON-EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET OMIM

ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN


Alternate names

ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN Is also known as ichthyosis hystrix, curth-macklin type

Description

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).

Most common symptoms of ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN

  • Flexion contracture
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis
  • Nail dystrophy
  • Ichthyosis


More info about ICHTHYOSIS HYSTRIX OF CURTH-MACKLIN

SOURCES: ORPHANET MESH OMIM

KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3


Alternate names

KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as kpps3, keratoderma, palmoplantar, striate form iii, striate palmoplantar keratoderma iii, sppk3

Most common symptoms of KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

  • Palmoplantar keratoderma


More info about KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

SOURCES: OMIM MESH

CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA


Alternate names

CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA Is also known as iwc, crie, ichthyosis with confetti, ichthyosis variegata

Description

Congenital reticular ichthyosiform erythroderma (CRIE), also known as ichthyosis with confetti (IWC), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003).

Most common symptoms of CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA

  • Hyperkeratosis
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Epidermal acanthosis


More info about CONGENITAL RETICULAR ICHTHYOSIFORM ERYTHRODERMA

SOURCES: ORPHANET OMIM MESH

ANNULAR EPIDERMOLYTIC ICHTHYOSIS


Alternate names

ANNULAR EPIDERMOLYTIC ICHTHYOSIS Is also known as ciehk, epidermolytic ichthyosis, annular, aei

Description

Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.

Most common symptoms of ANNULAR EPIDERMOLYTIC ICHTHYOSIS

  • Hyperkeratosis
  • Erythema
  • Ichthyosis
  • Palmoplantar hyperkeratosis
  • Erythroderma


More info about ANNULAR EPIDERMOLYTIC ICHTHYOSIS

SOURCES: OMIM MESH 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


Potential gene panels for KRT1 gene

KRT1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT1 gene.

More info about this panel

KRT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT1 gene.

More info about this panel

KRT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT1 gene.

More info about this panel

KRT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT1 gene.

More info about this panel

KRT1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT1 gene.

More info about this panel

Epidermolytic hyperkeratosis (sequence analysis of KRT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT1 gene.

More info about this panel

Epidermolysis bullosa (NGS panel for 18 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN

More info about this panel

Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRT1 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

Epidermolytic hyperkeratosis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT1 gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Genetic Epidermolyses and blistering disorders Panel Panel

Germany.

By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

KRT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT1 gene.

More info about this panel

Ichthyosis Panel Panel

Finland.

By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1

More info about this panel

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel

Bullous congenital ichthyosiform erythroderma Panel

Spain.

By Bioarray

This panel specifically test the KRT1 gene.

More info about this panel

Epidermolytic palmoplantar keratoderma Panel

Spain.

By Bioarray

This panel specifically test the KRT1 gene.

More info about this panel

Keratosis palmoplantaris striata III Panel

Spain.

By Bioarray

This panel specifically test the KRT1 gene.

More info about this panel

Thost-Unna palmoplantar keratoderma Panel

Spain.

By Bioarray

This panel specifically test the KRT1 gene.

More info about this panel

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL Panel

Spain.

By Laboratorio de Genetica Clinica SL ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL that also includes the following genes: KRT1 KRT10

More info about this panel

ICHTHYOSIS, EPIDERMOLYTIC Panel

Spain.

By Laboratorio de Genetica Clinica SL ICHTHYOSIS, EPIDERMOLYTIC that also includes the following genes: KRT1 KRT10

More info about this panel

PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC Panel

Spain.

By Laboratorio de Genetica Clinica SL PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC that also includes the following genes: KRT1 KRT9

More info about this panel

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel

Epidermolytic Palmoplantar Keratoderma, Sequencing KRT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT1 gene.

More info about this panel

Epidermolytic Palmoplantar Keratoderma, Sequencing Exons (1,7) KRT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT1 gene.

More info about this panel

Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP

More info about this panel

Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Palmoplantar Keratoderma and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TRPV3 AQP5 KRT1 KRT10 KRT16 KRT9

More info about this panel


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