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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET MESH

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

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


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

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

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

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

ADAR Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Dyschromatosis symmetrica hereditaria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Single gene testing ADAR Panel

Germany.

By CeGaT GmbH

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

Dyschromatosis symmetrica Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ADAR gene.

More info about this panel

Dyschromatosis symmetrica Panel

Slovakia.

By MedGene

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

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

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

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

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

ADAR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

DYSCHROMATOSIS SYMMETRICA HEREDITARIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ADAR gene.

More info about this panel

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV HSD17B4 AFF4 STX1B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more