ERCC3 gene related symptoms and diseases

All the information presented here about the ERCC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ERCC3 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Cutaneous photosensitivity Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ERCC3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dermal atrophy
  • Hearing impairment
  • Optic atrophy
  • Not very common - Between 30% and 50% cases

  • Retinopathy
  • Hypogonadism
  • Melanoma
  • Squamous cell carcinoma of the skin
  • Poikiloderma

And 98 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ERCC3 gene

Here you will find a list of rare diseases related to the ERCC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


XERODERMA PIGMENTOSUM


Alternate names

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i, xp1, xp, group a, xp

Description

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

Most common symptoms of XERODERMA PIGMENTOSUM

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about XERODERMA PIGMENTOSUM

SOURCES: OMIM ORPHANET

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


Alternate names

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b, xpbc

Description

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

SOURCES: MESH OMIM

TRICHOTHIODYSTROPHY


Description

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).


More info about TRICHOTHIODYSTROPHY

SOURCES: ORPHANET

TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2


Description

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

Most common symptoms of TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cognitive impairment
  • Ichthyosis


More info about TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2

SOURCES: OMIM

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX


Alternate names

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Description

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

Most common symptoms of XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

SOURCES: ORPHANET


Potential gene panels for ERCC3 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

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

ERCC3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ERCC3 gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Trichothiodystrophy (sequence analysis of ERCC3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ERCC3 gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Trichothiodystrophy (NGS panel of 5 genes) Panel

Portugal.

By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel

Xeroderma pigmentosum group B (XPB, deletion/duplication analysis of ERCC3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ERCC3 gene.

More info about this panel

Xeroderma pigmentosum group B (XPB, deletion/duplication analysis of ERCC3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ERCC3 gene.

More info about this panel

Xeroderma Pigmentosum Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Xeroderma Pigmentosum Sequencing Panel with CNV Detection that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Xeroderma Pigmentosum via the ERCC3 Gene with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ERCC3 gene.

More info about this panel

Xeroderma pigmentosum Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum Comprehensive panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Xeroderma pigmentosum NGS panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum NGS panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Xeroderma pigmentosum Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Xeroderma pigmentosum Deletion / Duplication panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

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

Trichothiodystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

More info about this panel

Trichothiodystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

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

Trichothiodystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2

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

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Trichothiodystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ERCC3 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

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

Xeroderma pigmentosum Panel Panel

Germany.

By CeGaT GmbH Xeroderma pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

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

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

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Trichothiodystrophy: ERCC3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ERCC3 gene.

More info about this panel

Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy: ERCC2 and ERCC3 genes sequence analysis that also includes the following genes: ERCC2 ERCC3

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel

Trichothiodystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3

More info about this panel

Melanoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Melanoma NGS Panel that also includes the following genes: BRCA1 BRCA2 TERT TP53 TYR WRN CDK4 CDKN2A ERCC3 MC1R

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

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

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

Xeroderma Pigmentosum NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC2 ERCC3 ERCC4 ERCC5

More info about this panel

Xeroderma Pigmentosum NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Xeroderma Pigmentosum NGS Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

ERCC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERCC3 gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Hereditary Melanoma and Skin Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A

More info about this panel

Xeroderma Pigmentosum Panel Panel

Finland.

By Blueprint Genetics Xeroderma Pigmentosum Panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel

XERODERMA PIGMENTOSUM Panel

Spain.

By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL TRICHOTHIODYSTROPHY TYPE F (PIBIDS SYNDROME) that also includes the following genes: GTF2H5 ERCC2 ERCC3

More info about this panel

XERODERMA PIGMENTOSUM NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL XERODERMA PIGMENTOSUM NGS PANEL that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

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

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Trichothiodistrophy , Massive Sequencing ERCC3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ERCC3 gene.

More info about this panel

Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3

More info about this panel

Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Xeroderma Pigmentosum , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Xeroderma Pigmentosum: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Xeroderma Pigmentosum: gene sequencing panel that also includes the following genes: XPA XPC DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


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