PNPLA1 gene related symptoms and diseases

All the information presented here about the PNPLA1 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.

Top 5 symptoms and clinical features associated to PNPLA1 gene

Symptoms // Phenotype % Cases
Ectropion Very Common - Between 80% and 100% cases
Congenital nonbullous ichthyosiform erythroderma Very Common - Between 80% and 100% cases
Congenital ichthyosiform erythroderma Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Ichthyosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PNPLA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Nail dystrophy
  • Scaling skin
  • Scarring
  • Erythema
  • Anhidrosis
  • Hypergranulosis
  • Hyperkeratosis
  • Alopecia

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PNPLA1 gene

Here you will find a list of rare diseases related to the PNPLA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA


Alternate names

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly, erythrodermic ichthyosis, non-bullous congenital ichthyosiform erythroderma, ncie1, formerly, cie, collodion baby, self-healing, ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Description

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

Most common symptoms of CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

SOURCES: ORPHANET OMIM

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10


Description

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Most common symptoms of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10

  • Flexion contracture
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Scarring


More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10

SOURCES: OMIM


Potential gene panels for PNPLA1 gene

PNPLA1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PNPLA1 gene.

More info about this panel

PNPLA1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PNPLA1 gene.

More info about this panel

Ichthyosis, congenital, AR 10 (sequence analysis of PNPLA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PNPLA1 gene.

More info about this panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

More info about this panel

Hereditary ichthyosis (NGS panel of 53 genes) Panel

Portugal.

By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1

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

Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PNPLA1 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

Ichthyosis congenital, autosomal recessive - PNPLA1 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PNPLA1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

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

ICHTHYOSIS (CONGENITAL) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ICHTHYOSIS (CONGENITAL) that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 CYP4F22 NIPAL4 ALOX12B KRT2

More info about this panel

PNPLA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PNPLA1 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

Ichthyosis, congenital, autosomal recessive 10 Panel

Spain.

By Bioarray

This panel specifically test the PNPLA1 gene.

More info about this panel

ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 LIPN CERS3 CYP4F22 NIPAL4 ALOX12B

More info about this panel

ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE Panel

Spain.

By Laboratorio de Genetica Clinica SL ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 LIPN CERS3 CYP4F22 NIPAL4 ALOX12B

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


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