ADAR gene related symptoms and diseases
All the information presented here about the ADAR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADAR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dystonia | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Cerebral calcification | Uncommon - Between 30% and 50% cases |
| Toe walking | Uncommon - Between 30% and 50% cases |
| Skin rash | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ADAR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spasticity
- Lower limb spasticity
- Microcephaly
- Leukodystrophy
Rarely - Less than 30% cases
- Clonus
- Basal ganglia calcification
- Porencephalic cyst
- Immune dysregulation
And 70 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADAR gene
Here you will find a list of rare diseases related to the ADAR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DYSCHROMATOSIS SYMMETRICA HEREDITARIA
Alternate names
DYSCHROMATOSIS SYMMETRICA HEREDITARIA Is also known as dsh1, dyschromatosis symmetrica hereditaria 1, reticulate acropigmentation of dohi, symmetric dyschromatosis of the extremities, rad, acropigmentation of dohi
Description
Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.
Most common symptoms of DYSCHROMATOSIS SYMMETRICA HEREDITARIA
- Dystonia
- Erythema
- Hypopigmentation of the skin
- Hypermelanotic macule
- Macule
More info about DYSCHROMATOSIS SYMMETRICA HEREDITARIA
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
FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS
Alternate names
FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS Is also known as familial ibsn, familial infantile striatonigral necrosis, familial infantile striatonigral degeneration
Description
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
More info about FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS
SOURCES: ORPHANET
AICARDI-GOUTIERES SYNDROME 6; AGS6
Most common symptoms of AICARDI-GOUTIERES SYNDROME 6; AGS6
- Global developmental delay
- Microcephaly
- Nystagmus
- Spasticity
- Tremor
More info about AICARDI-GOUTIERES SYNDROME 6; AGS6
SOURCES: OMIM
Search interest in ADAR
Potential gene panels for ADAR gene
Hereditary Spastic Paraplegia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
ADAR Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ADAR gene.
More info about this panel Germany.
Dyschromatosis symmetrica hereditaria (sequence analysis of ADAR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ADAR gene.
More info about this panel Portugal.
Aicardi-Goutieres syndrome (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Aicardi-Goutieres syndrome (NGS panel for 7 genes) that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Portugal.
Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
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 Germany.
Aicardi-Goutières Syndrome Panel
Germany.
By MGZ Medical Genetics Center Aicardi-Goutières Syndrome that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
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.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Dyschromatosis symmetrica hereditaria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ADAR gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Aicardi-Goutieres Syndrome NGS Panel Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Aicardi-Goutieres Syndrome NGS Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
Epileptic Encephalopathy Panel Panel
Germany.
By CeGaT GmbH Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SPTAN1
More info about this panel Germany.
Aicardi-Goutières Syndrome Panel Panel
Germany.
By CeGaT GmbH Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
More info about this panel Germany.
Genetic disorders with abnormal pigmentation Panel Panel
Germany.
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel Germany.
Leukodystrophy and Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel Germany.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panel Germany.
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 Germany.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
Single gene testing ADAR Panel
Germany.
By CeGaT GmbH
This panel specifically test the ADAR gene.
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
Leukodystrophy and Leukoencephalopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panel Estonia.
Dyschromatosis symmetrica Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ADAR gene.
More info about this panel Austria.
Dyschromatosis symmetrica Panel
Slovakia.
By MedGene
This panel specifically test the ADAR gene.
More info about this panel Slovakia.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
United States.
By Invitae Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 STAT2 ACP5 TYK2 SAMHD1 IRAK4 ADAR CYBB ISG15 GATA2
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Aicardi-Goutieres syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Aicardi-Goutieres syndrome that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
More info about this panel Spain.
ADAR - Sanger Gene sequencing ( ADAR) Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the ADAR gene.
More info about this panel Netherlands.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
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 United States.
ADAR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAR gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Aicardi-Goutières Syndrome Panel Panel
Finland.
By Blueprint Genetics Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Epileptic Encephalopathy Panel Panel
Finland.
By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2
More info about this panel Finland.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel United States.
ADAR Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ADAR gene.
More info about this panel United States.
DYSCHROMATOSIS SYMMETRICA HEREDITARIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ADAR gene.
More info about this panel Spain.
AICARDI-GOUTIERES SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL AICARDI-GOUTIERES SYNDROME that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Spain.
AICARDI-GOUTIERES SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AICARDI-GOUTIERES SYNDROME NGS PANEL that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C
More info about this panel Spain.
Aicardi-Goutieres Type 6 Syndrome, Sequencing ADAR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ADAR gene.
More info about this panel Spain.
Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes Panel
Spain.
By Reference Laboratory Genetics Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panel Spain.
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: POFUT1 ADAM10 ADAR POGLUT1 KRT14 KRT5
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV SOX9 KLF1 CARS2