PEX1 gene related symptoms and diseases

All the information presented here about the PEX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, 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 PEX1 gene

Symptoms // Phenotype	% Cases
Sensorineural hearing impairment	Very Common - Between 80% and 100% cases
Hearing impairment	Very Common - Between 80% and 100% cases
Intellectual disability	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Cataract	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PEX1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Nystagmus
Wide nasal bridge
Global developmental delay
Short stature
Renal cyst
Ichthyosis
Leukodystrophy
Epiphyseal stippling

And 222 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PEX1 gene

Here you will find a list of rare diseases related to the PEX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

INFANTILE REFSUM DISEASE

Alternate names

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal, infantile phytanic acid storage disease, peroxisome biogenesis disorder (nald/ird), ird, refsum disease, infantile, peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Description

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

Most common symptoms of INFANTILE REFSUM DISEASE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about INFANTILE REFSUM DISEASE

SOURCES: OMIM ORPHANET

REFSUM DISEASE, CLASSIC

Alternate names

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis, hmsn iv, phytanic acid oxidase deficiency, hereditary motor and sensory neuropathy iv, hmsn4, refsum disease, adult, 1

Description

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

Most common symptoms of REFSUM DISEASE, CLASSIC

Seizures
Global developmental delay
Hearing impairment
Ataxia
Nystagmus

More info about REFSUM DISEASE, CLASSIC

SOURCES: OMIM

NEONATAL ADRENOLEUKODYSTROPHY

Alternate names

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Description

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

Most common symptoms of NEONATAL ADRENOLEUKODYSTROPHY

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about NEONATAL ADRENOLEUKODYSTROPHY

SOURCES: OMIM ORPHANET

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Alternate names

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME Is also known as heimler syndrome, hearing loss, sensorineural, with enamel hypoplasia and nail defects, pbd1c, peroxisome biogenesis disorder 1c

Description

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

Most common symptoms of DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Intellectual disability
Short stature
Hearing impairment
Sensorineural hearing impairment
Peripheral neuropathy

More info about DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

SOURCES: OMIM ORPHANET

ZELLWEGER SYNDROME

Alternate names

ZELLWEGER SYNDROME Is also known as zs, cerebrohepatorenal syndrome, zws, chr

Description

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Most common symptoms of ZELLWEGER SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about ZELLWEGER SYNDROME

SOURCES: OMIM ORPHANET

Search interest in PEX1

Potential gene panels for PEX1 gene

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

PEX1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PEX1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to PEX1 gene

INFANTILE REFSUM DISEASE

Alternate names

Description

Most common symptoms of INFANTILE REFSUM DISEASE

REFSUM DISEASE, CLASSIC

Alternate names

Description

Most common symptoms of REFSUM DISEASE, CLASSIC

NEONATAL ADRENOLEUKODYSTROPHY

Alternate names

Description

Most common symptoms of NEONATAL ADRENOLEUKODYSTROPHY

DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

Alternate names

Description

Most common symptoms of DEAFNESS-ENAMEL HYPOPLASIA-NAIL DEFECTS SYNDROME

ZELLWEGER SYNDROME

Alternate names

Description

Most common symptoms of ZELLWEGER SYNDROME

Search interest in PEX1

Potential gene panels for PEX1 gene

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

Non-immune Hydrops Panel Panel

NGS Peroxisome Biogenesis Disorders Panel Panel

Lysosomal Storage Disease Panel Panel

Zellweger Spectrum Disorder NGS Panel Panel

Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel Panel

Peroxisomal Disorders Comprehensive NGS Panel Panel

OtoSCOPE Panel

Liver Diseases Deletion/duplication panel Panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

Hypospadias Sequencing Panel Panel

Ataxia Exome Panel Panel

Peroxisomal Disorders Sequencing Panel Panel

Peroxisomal disorders Panel

Peroxisomal disorders targetted panel Panel

PEX1. Sequencing of the exons 13, 15, 18 and 19 Panel

PEX1. Complete sequencing Panel

Zellweger syndrome (sequence analysis of PEX1 gene) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Zellweger syndrome (deletion/duplication analysis of PEX1 gene) Panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Zellweger syndrome (deletion/duplication analysis of PEX1 gene) Panel

Zellweger Syndrome Spectrum Panel

Peroxisomal Disorders Sequencing Panel with CNV Detection Panel

Hypospadias Sequencing Panel with CNV Detection Panel

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX1 Gene Sequencing with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Hepatic and pancreatic diseases - panels Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Zellweger syndrome Panel

Zellweger syndrome panel Panel

Refsum disease panel Panel

AllNeuro panel Panel

Usher Syndrome Panel Panel

Peroxisomal Disorder Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Peroxisomal Disorders Panel Panel

Refsum Disease Panel Panel

Single gene testing PEX1 Panel

Leukodystrophy / Leukoencephalopathy Panel Panel

PEX1 - Zellweger Syndorme spectrum Panel

Zellweger Spectrum Disorders Panel

Brain malformations Panel