XRCC4 gene related symptoms and diseases
All the information presented here about the XRCC4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to XRCC4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cutaneous photosensitivity | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Hypothyroidism | Common - Between 50% and 80% cases |
| Recurrent infections | Common - Between 50% and 80% cases |
| Immunodeficiency | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with XRCC4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Thrombocytopenia
- Delayed speech and language development
- Microcephaly
- Cryptorchidism
- Micrognathia
- Growth delay
Not very common - Between 30% and 50% cases
- Decreased testicular size
- Limb undergrowth
And 136 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to XRCC4 gene
Here you will find a list of rare diseases related to the XRCC4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LIG4 SYNDROME
Alternate names
LIG4 SYNDROME Is also known as dna ligase iv deficiency, ligase 4 syndrome
Description
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Most common symptoms of LIG4 SYNDROME
- Intellectual disability
- Global developmental delay
- Microcephaly
- Growth delay
- Micrognathia
More info about LIG4 SYNDROME
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED
Description
In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).
Most common symptoms of SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Ataxia
More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED
SOURCES: OMIM
MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE SYNDROME
Most common symptoms of MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE SYNDROME
- Micrognathia
- Hepatic steatosis
- Retinal detachment
- Hypertriglyceridemia
- Congenital blindness
More info about MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE SYNDROME
SOURCES: ORPHANET
Search interest in XRCC4
Potential gene panels for XRCC4 gene
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panel United States.
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 United States.
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the XRCC4 gene.
More info about this panel United States.
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Lig4-Syndrome and LIG4-Syndrome-like Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Lig4-Syndrome and LIG4-Syndrome-like that also includes the following genes: XRCC4 LIG4
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Short stature, microcephaly, and endocrine dysfunction Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the XRCC4 gene.
More info about this panel Germany.
XRCC4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XRCC4 gene.
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
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