TREX1 gene related symptoms and diseases

All the information presented here about the TREX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, 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 TREX1 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Leukoencephalopathy	Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus	Uncommon - Between 30% and 50% cases
Raynaud phenomenon	Uncommon - Between 30% and 50% cases
Thrombocytopenia	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TREX1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Leukodystrophy
Skin rash
Cerebral calcification
Intellectual disability, profound
Postnatal microcephaly
Antinuclear antibody positivity
Vasculitis
Basal ganglia calcification

And 168 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TREX1 gene

Here you will find a list of rare diseases related to the TREX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AICARDI-GOUTIÈRES SYNDROME

Alternate names

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification, encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Description

Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

Most common symptoms of AICARDI-GOUTIÈRES SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about AICARDI-GOUTIÈRES SYNDROME

SOURCES: OMIM ORPHANET

AICARDI-GOUTIERES SYNDROME 1; AGS1

Alternate names

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis, encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, ags, pseudotoxoplasmosis syndrome

Description

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

Most common symptoms of AICARDI-GOUTIERES SYNDROME 1; AGS1

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Nystagmus

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

SOURCES: OMIM

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Alternate names

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena, cerebroretinal vasculopathy, hereditary, crv, retinal vasculopathy and cerebral leukoencephalopathy, rvcl, rvcl-s

Description

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

Most common symptoms of RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Seizures
Ataxia
Neoplasm
Pain
Visual impairment

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

SOURCES: ORPHANET MESH OMIM

SYSTEMIC LUPUS ERYTHEMATOSUS

Alternate names

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle

Description

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

Seizures
Short stature
Cognitive impairment
Anemia
Fatigue

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

CHILBLAIN LUPUS

Description

Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE ) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain LupusSee also CHBL2 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20q11.Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).

Most common symptoms of CHILBLAIN LUPUS

Immunodeficiency
Recurrent infections
Arthralgia
Abnormality of skin pigmentation
Hypopigmentation of the skin

More info about CHILBLAIN LUPUS

SOURCES: ORPHANET OMIM

FAMILIAL CHILBLAIN LUPUS

More info about FAMILIAL CHILBLAIN LUPUS

SOURCES: ORPHANET

Search interest in TREX1

Potential gene panels for TREX1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

TREX1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TREX1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TREX1 gene

AICARDI-GOUTIÈRES SYNDROME

Alternate names

Description

Most common symptoms of AICARDI-GOUTIÈRES SYNDROME

AICARDI-GOUTIERES SYNDROME 1; AGS1

Alternate names

Description

Most common symptoms of AICARDI-GOUTIERES SYNDROME 1; AGS1

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Alternate names

Description

Most common symptoms of RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

SYSTEMIC LUPUS ERYTHEMATOSUS

Alternate names

Description

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

CHILBLAIN LUPUS

Description

Most common symptoms of CHILBLAIN LUPUS

FAMILIAL CHILBLAIN LUPUS

Search interest in TREX1

Potential gene panels for TREX1 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Hereditary Spastic Paraplegia Panel Panel

Aicardi-Goutieres Syndrome 1 - TREX1 Del/Dup Analysis Panel

Aicardi-Goutieres Syndrome 1 - TREX1 Sequencing Panel

Dystonia Panel

Movement Disorders Panel Panel

Dystonia Exome Panel Panel

TREX1 Panel

TREX1. Complete sequencing Panel

TREX1. Complete sequencing Panel

Aicardi-Goutieres syndrome (NGS panel for 7 genes) Panel

Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 gene) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Cerebral small vessel disease Comprehensive panel Panel

Cerebral small vessel disease Deletion / Duplication panel Panel

Cerebral small vessel disease NGS panel Panel

Mental retardation - different panels Panel

TREX1 Panel

Aicardi-Goutières Syndrome Panel

Eye Diseases - panels Panel

Vascular and connective tissue diseases - panels Panel

Neurogenetic Disorders - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Teenager Stroke / Stroke-Like Episodes Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Aicardi-Goutieres syndrome type 1 Panel

AllNeuro panel Panel

Aicardi-Goutieres syndrome panel Panel

Aicardi-Goutieres Syndrome NGS Panel Panel

Epileptic Encephalopathy Panel Panel

Aicardi-Goutières Syndrome Panel Panel

Leukodystrophy / Leukencephalopathy Panel Panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Basal ganglia calcification Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Small vessel disease Panel Panel

Vascular and lymphatic disorders Panel Panel

Single gene testing TREX1 Panel

Immune dysregulation Panel Panel

Syndromes with immunodeficiency Panel Panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Cerebral small vessel disease Panel

Eye diseases comprehensive panel Panel

Leukodystrophy and Leukoencephalopathy Panel

Retinal Dystrophy Panel Panel

MVL Vision Panel Panel

Test for TREX1-Related Aicardi-Goutieres Syndrome Panel

Aicardi-Goutieres syndrome 1 Panel

Chilblain lupus Panel