ERCC8 gene related symptoms and diseases
All the information presented here about the ERCC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ERCC8 gene
Symptoms // Phenotype | % Cases |
---|---|
Cutaneous photosensitivity | Common - Between 50% and 80% cases |
Cataract | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Short stature | Common - Between 50% and 80% cases |
Hearing impairment | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ERCC8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microcephaly
- Spasticity
- Tremor
- Failure to thrive
- Increased cellular sensitivity to UV light
- Severe photosensitivity
- Carious teeth
Not very common - Between 30% and 50% cases
- Intellectual disability
And 93 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ERCC8 gene
Here you will find a list of rare diseases related to the ERCC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COCKAYNE SYNDROME TYPE 1
Alternate names
COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i
Description
Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment.
Most common symptoms of COCKAYNE SYNDROME TYPE 1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COCKAYNE SYNDROME TYPE 1
COCKAYNE SYNDROME TYPE 3
Alternate names
COCKAYNE SYNDROME TYPE 3 Is also known as cockayne syndrome type iii
Most common symptoms of COCKAYNE SYNDROME TYPE 3
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Failure to thrive
More info about COCKAYNE SYNDROME TYPE 3
SOURCES: ORPHANET
COCKAYNE SYNDROME TYPE 2
Alternate names
COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii
Description
Caused by mutations of gene ERCC6.
Most common symptoms of COCKAYNE SYNDROME TYPE 2
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COCKAYNE SYNDROME TYPE 2
UV-SENSITIVE SYNDROME
UV-SENSITIVE SYNDROME 2; UVSS2
Description
UV-sensitive syndrome-2 is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Nardo et al., 2009).See also Cockayne syndrome type A (CSA ), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities.For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (OMIM ).
Most common symptoms of UV-SENSITIVE SYNDROME 2; UVSS2
- Abnormality of the skeletal system
- Erythema
- Cutaneous photosensitivity
- Neoplasm of the skin
- Freckling
More info about UV-SENSITIVE SYNDROME 2; UVSS2
SOURCES: OMIM
Search interest in ERCC8
Potential gene panels for ERCC8 gene
ERCC8-Cockayne syndrome Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the ERCC8 gene.
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panelERCC8. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ERCC8 gene.
More info about this panelCockayne syndrome A (sequence analysis of ERCC8 gene) Panel
By CGC Genetics
This panel specifically test the ERCC8 gene.
More info about this panelProgeroid syndromes (NGS panel for 12 genes) Panel
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelProgeroid syndromes (NGS panel for 12 genes) Panel
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelChromosomal Instability Syndromes Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Chromosomal Instability Syndromes Sequencing Panel with CNV Detection that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM RECQL4
More info about this panelCockayne Syndrome via ERCC8 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ERCC8 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panelProgeroid syndromes and related disorders NGS panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelProgeroid syndromes and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelCockayne syndrome NGS panel Panel
By Connective Tissue Gene Tests Cockayne syndrome NGS panel that also includes the following genes: ERCC6 ERCC8
More info about this panelProgeroid syndromes and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panelCockayne syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Cockayne syndrome Deletion / Duplication panel that also includes the following genes: ERCC6 ERCC8
More info about this panelCockayne syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Cockayne syndrome Comprehensive panel that also includes the following genes: ERCC6 ERCC8
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelERCC8-Related Cockayne Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ERCC8 gene.
More info about this panelCockayne syndrome, type A Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ERCC8 gene.
More info about this panelDisorders associated with malignancy Panel Panel
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panelBasal ganglia calcification Panel Panel
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panelSingle gene testing ERCC8 Panel
By CeGaT GmbH
This panel specifically test the ERCC8 gene.
More info about this panelProgeria syndromes Panel Panel
By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
More info about this panelCockayne Sydrome Panel Panel
By Molecular Vision Laboratory Cockayne Sydrome Panel that also includes the following genes: ERCC6 ERCC8
More info about this panelERCC8 single gene sequencing Panel
By Molecular Vision Laboratory
This panel specifically test the ERCC8 gene.
More info about this panelCockayne syndrome A Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ERCC8 gene.
More info about this panelUV-sensitive syndrome 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ERCC8 gene.
More info about this panelCockayne syndrome A Panel
By MedGene
This panel specifically test the ERCC8 gene.
More info about this panelUV-sensitive syndrome 2 Panel
By MedGene
This panel specifically test the ERCC8 gene.
More info about this panelProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelCockayne Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Cockayne Syndrome NGS Panel that also includes the following genes: ERCC6 ERCC8
More info about this panelChromosomal Instability Syndromes NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Chromosomal Instability Syndromes NGS Panel that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM
More info about this panelERCC8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ERCC8 gene.
More info about this panelProgeria and Progeroid Syndromes Panel Panel
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
More info about this panelCataract Panel Panel
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panelCockayne syndrome type A Panel
By Bioarray
This panel specifically test the ERCC8 gene.
More info about this panelCOCKAYNE SYNDROME Panel
By Laboratorio de Genetica Clinica SL COCKAYNE SYNDROME that also includes the following genes: ERCC1 ERCC4 ERCC6 ERCC8
More info about this panelCockayne Syndrome , Sequencing ERCC8 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ERCC8 gene.
More info about this panelChromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM RECQL4
More info about this panelCockayne Syndrome, Panel Massive Sequencing (NGS) ERCC6, ERCC8 Genes Panel
By Reference Laboratory Genetics Cockayne Syndrome, Panel Massive Sequencing (NGS) ERCC6, ERCC8 Genes that also includes the following genes: ERCC6 ERCC8
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