ERCC4 gene related symptoms and diseases

All the information presented here about the ERCC4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,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 ERCC4 gene

Symptoms // Phenotype	% Cases
Microcephaly	Very Common - Between 80% and 100% cases
Hearing impairment	Very Common - Between 80% and 100% cases
Ataxia	Very Common - Between 80% and 100% cases
Neoplasm	Very Common - Between 80% and 100% cases
Short stature	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ERCC4 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Cutaneous photosensitivity
Anemia
Intellectual disability
Renal insufficiency
Bone marrow hypocellularity
Neoplasm of the skin
Dry skin
Nystagmus

And 318 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ERCC4 gene

Here you will find a list of rare diseases related to the ERCC4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

XFE PROGEROID SYNDROME; XFEPS

Alternate names

XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Most common symptoms of XFE PROGEROID SYNDROME; XFEPS

Hearing impairment
Microcephaly
Scoliosis
Ataxia
Neoplasm

More info about XFE PROGEROID SYNDROME; XFEPS

SOURCES: MESH OMIM

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 F; XPF

Alternate names

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6, xp, group f, xeroderma pigmentosum vi

Description

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Intellectual disability
Short stature
Hearing impairment
Microcephaly
Scoliosis

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

SOURCES: MESH OMIM

FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

Description

Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

Short stature
Microcephaly
Growth delay
Neoplasm
Low-set ears

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

SOURCES: OMIM

FANCONI ANEMIA

Alternate names

FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa

Description

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Most common symptoms of FANCONI ANEMIA

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Microcephaly

More info about FANCONI ANEMIA

SOURCES: OMIM ORPHANET

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

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

Search interest in ERCC4

Potential gene panels for ERCC4 gene

Bone Marrow Failure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7

ERCC4 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ERCC4 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ERCC4 gene

XFE PROGEROID SYNDROME; XFEPS

Alternate names

Most common symptoms of XFE PROGEROID SYNDROME; XFEPS

XERODERMA PIGMENTOSUM

Alternate names

Description

Most common symptoms of XERODERMA PIGMENTOSUM

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Alternate names

Description

Most common symptoms of XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

Description

Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ

FANCONI ANEMIA

Alternate names

Description

Most common symptoms of FANCONI ANEMIA

COCKAYNE SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of COCKAYNE SYNDROME TYPE 1

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Alternate names

Description

Most common symptoms of XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

Search interest in ERCC4

Potential gene panels for ERCC4 gene

Bone Marrow Failure Panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

Fanconi Anemia Panel by next-generation sequencing (NGS) Panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

Fanconi Anemia Deletion/Duplication Panel Panel

ERCC4 (FANCQ) Deletion/duplication analysis Panel

ERCC4 (FANCQ) Sequencing Panel

Inherited Bone Marrow Failure Sequencing Panel Panel

Fanconi Anemia Sequencing Panel Panel

Ataxia Exome Panel Panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

Breast cancer (NGS panel for 18 genes) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Fanconi Anemia Sequencing Panel with CNV Detection Panel

Xeroderma Pigmentosum Sequencing Panel with CNV Detection Panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

Xeroderma Pigmentosum via ERCC4 Gene Sequencing with CNV Detection Panel

Xeroderma pigmentosum Comprehensive panel Panel

Xeroderma pigmentosum NGS panel Panel

Xeroderma pigmentosum Deletion / Duplication panel Panel

Progeroid syndromes and related disorders NGS panel Panel

Progeroid syndromes and related disorders Comprehensive panel Panel

Progeroid syndromes and related disorders Deletion / Duplication panel Panel

Mental retardation - different panels Panel

Hereditary Cancer Syndromes - panels Panel

Fanconi anemia, complementation group Q Panel

Fanconi anemia, complementation group Q Panel

XFE progeroid syndrome Panel

Xeroderma pigmentosum, group F Panel

Disorders associated with malignancy Panel Panel

Xeroderma pigmentosum Panel Panel

Ataxia and differential diagnoses Panel Panel

Single gene testing ERCC4 Panel

Progeria syndromes Panel Panel

Cancer Predisposition Panel

Fanconi Anemia Panel

NGS Panel for Fanconi anemia Panel

Invitae Bone Marrow Failure Syndromes Panel Panel

Invitae Fanconi Anemia Panel Panel

ONCOLOGY, PANEL Panel

Fanconi Anemia NGS Panel Panel

Hereditary Cancer NGS Panel Panel

Xeroderma Pigmentosum NGS Panel Panel

Xeroderma Pigmentosum NGS Panel Panel

ERCC4 Panel

Comprehensive Cancer Panel Panel