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.

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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. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET

UV-SENSITIVE SYNDROME



More info about UV-SENSITIVE SYNDROME

SOURCES: ORPHANET

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


Potential gene panels for ERCC8 gene

ERCC8-Cockayne syndrome Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the ERCC8 gene.

More info about this panel

Ataxia Exome Panel Panel

United States.

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 panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

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 panel

ERCC8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ERCC8 gene.

More info about this panel

Cockayne syndrome A (sequence analysis of ERCC8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ERCC8 gene.

More info about this panel

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

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 panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

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 panel

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

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 panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

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 panel

Chromosomal Instability Syndromes Sequencing Panel with CNV Detection Panel

United States.

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 panel

Cockayne Syndrome via ERCC8 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ERCC8 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

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 panel

Progeroid syndromes and related disorders NGS panel Panel

United States.

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 panel

Progeroid syndromes and related disorders Comprehensive panel Panel

United States.

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 panel

Cockayne syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cockayne syndrome NGS panel that also includes the following genes: ERCC6 ERCC8

More info about this panel

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Cockayne syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cockayne syndrome Deletion / Duplication panel that also includes the following genes: ERCC6 ERCC8

More info about this panel

Cockayne syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cockayne syndrome Comprehensive panel that also includes the following genes: ERCC6 ERCC8

More info about this panel

Mental retardation - different panels Panel

Germany.

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 panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

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 panel

Syndromal Diseases - panels Panel

Germany.

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 panel

ERCC8-Related Cockayne Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ERCC8 gene.

More info about this panel

Cockayne syndrome, type A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ERCC8 gene.

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

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 panel

Basal ganglia calcification Panel Panel

Germany.

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 panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

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 panel

Single gene testing ERCC8 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ERCC8 gene.

More info about this panel

Progeria syndromes Panel Panel

Germany.

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 panel

Cockayne Sydrome Panel Panel

United States.

By Molecular Vision Laboratory Cockayne Sydrome Panel that also includes the following genes: ERCC6 ERCC8

More info about this panel

ERCC8 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the ERCC8 gene.

More info about this panel

Cockayne syndrome A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ERCC8 gene.

More info about this panel

UV-sensitive syndrome 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ERCC8 gene.

More info about this panel

Cockayne syndrome A Panel

Slovakia.

By MedGene

This panel specifically test the ERCC8 gene.

More info about this panel

UV-sensitive syndrome 2 Panel

Slovakia.

By MedGene

This panel specifically test the ERCC8 gene.

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

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 panel

Intellectual Disability NGS Panel Panel

United States.

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 panel

Cockayne Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cockayne Syndrome NGS Panel that also includes the following genes: ERCC6 ERCC8

More info about this panel

Chromosomal Instability Syndromes NGS Panel Panel

United States.

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 panel

ERCC8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERCC8 gene.

More info about this panel

Progeria and Progeroid Syndromes Panel Panel

Finland.

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 panel

Cataract Panel Panel

Finland.

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 panel

Cockayne syndrome type A Panel

Spain.

By Bioarray

This panel specifically test the ERCC8 gene.

More info about this panel

COCKAYNE SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL COCKAYNE SYNDROME that also includes the following genes: ERCC1 ERCC4 ERCC6 ERCC8

More info about this panel

Cockayne Syndrome , Sequencing ERCC8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ERCC8 gene.

More info about this panel

Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

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 panel

Cockayne Syndrome, Panel Massive Sequencing (NGS) ERCC6, ERCC8 Genes Panel

Spain.

By Reference Laboratory Genetics Cockayne Syndrome, Panel Massive Sequencing (NGS) ERCC6, ERCC8 Genes that also includes the following genes: ERCC6 ERCC8

More info about this panel


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