ERCC6 gene related symptoms and diseases

All the information presented here about the ERCC6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, 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 ERCC6 gene

Symptoms // Phenotype	% Cases
Cutaneous photosensitivity	Common - Between 50% and 80% cases
Microcephaly	Common - Between 50% and 80% cases
Sensorineural hearing impairment	Uncommon - Between 30% and 50% cases
Cataract	Uncommon - Between 30% and 50% cases
Hearing impairment	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ERCC6 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Failure to thrive
Intellectual disability
Global developmental delay
Seizures
Spasticity
Short stature
Rarely - Less than 30% cases
Carious teeth
Cerebral calcification

And 192 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ERCC6 gene

Here you will find a list of rare diseases related to the ERCC6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5

More info about MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5

SOURCES: OMIM

COFS SYNDROME

Alternate names

COFS SYNDROME Is also known as cerebrooculofacioskeletal syndrome, pena-shokeir syndrome type 2

Description

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Most common symptoms of COFS SYNDROME

Seizures
Short stature
Microcephaly
Micrognathia
Sensorineural hearing impairment

More info about COFS SYNDROME

SOURCES: ORPHANET

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Alternate names

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome, cofs, pena-shokeir syndrome, type ii

Description

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

Most common symptoms of CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

SOURCES: ORPHANET OMIM

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

LUNG CANCER

Description

Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Most common symptoms of LUNG CANCER

Neoplasm
Pain
Fatigue
Respiratory distress
Diarrhea

More info about LUNG CANCER

SOURCES: OMIM

DE SANCTIS-CACCHIONE SYNDROME

Description

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Most common symptoms of DE SANCTIS-CACCHIONE SYNDROME

Intellectual disability
Hearing impairment
Microcephaly
Ataxia
Sensorineural hearing impairment

More info about DE SANCTIS-CACCHIONE SYNDROME

SOURCES: ORPHANET MESH OMIM

UV-SENSITIVE SYNDROME

More info about UV-SENSITIVE SYNDROME

SOURCES: ORPHANET

UV-SENSITIVE SYNDROME 1; UVSS1

Description

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild 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 Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive SyndromeSee also UVSS2 (OMIM ), caused by mutation in the ERCC8 gene (OMIM ) on chromosome 5q12, and UVSS3 (OMIM ), caused by mutation in the UVSSA gene (OMIM ) on chromosome 4p16.

Most common symptoms of UV-SENSITIVE SYNDROME 1; UVSS1

Growth delay
Neoplasm
Abnormality of the nervous system
Dry skin
Cutaneous photosensitivity

More info about UV-SENSITIVE SYNDROME 1; UVSS1

SOURCES: OMIM

PREMATURE OVARIAN FAILURE 11; POF11

Description

Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see {136530}) levels before age 40 years (Qin et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM ).

Most common symptoms of PREMATURE OVARIAN FAILURE 11; POF11

Amenorrhea
Premature ovarian insufficiency
Secondary amenorrhea
Oligomenorrhea
Elevated circulating follicle stimulating hormone level

More info about PREMATURE OVARIAN FAILURE 11; POF11

SOURCES: OMIM

Search interest in ERCC6

Potential gene panels for ERCC6 gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

ERCC6 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ERCC6 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to ERCC6 gene

MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5

COFS SYNDROME

Alternate names

Description

Most common symptoms of COFS SYNDROME

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Alternate names

Description

Most common symptoms of CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

COCKAYNE SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of COCKAYNE SYNDROME TYPE 1

COCKAYNE SYNDROME TYPE 3

Alternate names

Most common symptoms of COCKAYNE SYNDROME TYPE 3

COCKAYNE SYNDROME TYPE 2

Alternate names

Description

Most common symptoms of COCKAYNE SYNDROME TYPE 2

LUNG CANCER

Description

Most common symptoms of LUNG CANCER

DE SANCTIS-CACCHIONE SYNDROME

Description

Most common symptoms of DE SANCTIS-CACCHIONE SYNDROME

UV-SENSITIVE SYNDROME

UV-SENSITIVE SYNDROME 1; UVSS1

Description

Most common symptoms of UV-SENSITIVE SYNDROME 1; UVSS1

PREMATURE OVARIAN FAILURE 11; POF11

Description

Most common symptoms of PREMATURE OVARIAN FAILURE 11; POF11

Search interest in ERCC6

Potential gene panels for ERCC6 gene

Congenital Contractures Panel Panel

Dystonia Panel

Movement Disorders Panel Panel

Ataxia Exome Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

ERCC6. Complete sequencing Panel

Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene) Panel

Cockayne syndrome B (sequence analysis of ERCC6 gene) Panel

Progeroid syndromes (NGS panel for 12 genes) Panel

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

Progeroid syndromes (NGS panel for 12 genes) Panel

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

Chromosomal Instability Syndromes Sequencing Panel with CNV Detection Panel

Cockayne Syndrome via ERCC6 Gene Sequencing with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Cerebrooculofacioskeletal syndrome Comprehensive panel Panel

Progeroid syndromes and related disorders NGS panel Panel

Progeroid syndromes and related disorders Comprehensive panel Panel

Cerebrooculofacioskeletal syndrome NGS panel Panel

Cockayne syndrome NGS panel Panel

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

Cockayne syndrome Deletion / Duplication panel Panel

Cockayne syndrome Comprehensive panel Panel

Cerebrooculofacioskeletal syndrome Deletion / Duplication panel Panel

Mental retardation - different panels Panel

Cataract Panel

Eye Diseases - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

ERCC6-Related Cockayne Syndrome Panel

Cerebrooculofacioskeletal syndrome type 1 Panel

AllNeuro panel Panel

Disorders associated with malignancy Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Ataxia and differential diagnoses Panel Panel

Basal ganglia calcification Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Single gene testing ERCC6 Panel