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.
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
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
Search interest in PNPLA1
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 Germany.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
PNPLA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PNPLA1 gene.
More info about this panel United States.
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 Finland.
Ichthyosis, congenital, autosomal recessive 10 Panel
Spain.
By Bioarray
This panel specifically test the PNPLA1 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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