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: HGNC,NCBIGENE,ORPHANET,OMIM.

Top 5 symptoms associated to ADAR gene



Symptoms // Phenotype % Cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Palmar pits Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Not very common - Between 30% and 50% cases

Limb tremor Autosomal dominant inheritance Infantile onset Hypopigmentation of the skin Macule Hypermelanotic macule Amyloidosis Vitiligo

And 42 more phenotypes.

Mendelian

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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.


AICARDI-GOUTIERES SYNDROME 6; AGS6

Most common symptoms of AICARDI-GOUTIERES SYNDROME 6; AGS6

  • Autosomal recessive inheritance
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity


More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

SOURCES: OMIM MONDO UMLS

DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH

Alternate names

DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH Is also known as dyschromatosis symmetrica hereditaria 1;dsh1, reticulate acropigmentation of dohi;rad, symmetric dyschromatosis of the extremities;acropigmentation of dohi

Description

Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. DSH generally shows an autosomal dominant pattern of inheritance with high penetrance. The condition has been reported predominantly in Japanese and Chinese individuals. Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; {179850}), reticulate acropigmentation of Kitamura (RAK ), reticulate acropigmentation of Dohi (RAD), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity. Genetic Heterogeneity of Reticulate Pigment DisordersFor a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.

Most common symptoms of DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH

  • Autosomal dominant inheritance
  • Infantile onset
  • Dystonia
  • Hypopigmentation of the skin
  • Macule


More info about DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH

SOURCES: GARD UMLS EFO DOID MONDO SCTID OMIM NCIT MESH ORPHANET

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

  • Seizures
  • Microcephaly
  • Ptosis
  • Spasticity
  • Hypertonia


More info about AICARDI-GOUTIÈRES SYNDROME

SOURCES: ORPHANET UMLS

Potential gene panels for ADAR gene

Hereditary Spastic Paraplegia Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Hereditary Spastic Paraplegia Panel that also includes the following genes: C12orf65 TUBB3 HSPD1 OPA3 MECP2 ALDH18A1 REEP1 SPG7 ABCD1 ACOX1

More info about this panel

Dystonia Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Dystonia that also includes the following genes: PTEN ATP7B AUH PSEN1 HPRT1 AFG3L2 FOXRED1 PANK2 SCP2 GAMT

More info about this panel

Movement Disorders Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Movement Disorders Panel that also includes the following genes: PTEN ATP7B AUH PSEN1 HPRT1 TRIM32 POLG AFG3L2 FOXRED1 PANK2

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Dystonia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Dystonia Exome Panel that also includes the following genes: AARS2 UQCRQ ATP7B AUH BCS1L PSEN1 GLB1 HPRT1 POLG NDUFS4

More info about this panel

ADAR Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ADAR gene.

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Dyschromatosis symmetrica hereditaria (sequence analysis of ADAR gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ADAR gene.

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

By CGC Genetics in Portugal. Aicardi-Goutieres syndrome (NGS panel for 7 genes) that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

More info about this panel

Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Aicardi-Goutières Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: PC TYROBP ATP7A ATP7B TWNK ADSL HSD17B4 CPS1 PSAP GLB1

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Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: FMR1 UBE3A PTEN MCCC1 MCCC2 ACAD9 PC ANKH HLCS ATP7A

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Aicardi-Goutières Syndrome Panel

By MGZ Medical Genetics Center in Germany. Aicardi-Goutières Syndrome that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 ADAR

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Vascular and connective tissue diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Vascular and connective tissue diseases - panels that also includes the following genes: TTR AGL B4GALT7 ADSL COL1A1 COL1A2 COL3A1 AMACR POLG AFG3L2

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Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center in Germany. Neurogenetic Disorders - panels that also includes the following genes: MTHFR TTR UBE3A AARS2 ABHD12 ACAD9 ACADM ACADS AGL ACADVL

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Brain Malformations / Neuronal Migration Disorders Panel

By MGZ Medical Genetics Center in Germany. Brain Malformations / Neuronal Migration Disorders that also includes the following genes: FMR1 UBE3A PTEN APP TUBB3 HSD17B10 HPRT1 PANK2 FH MECP2

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Dyschromatosis symmetrica hereditaria Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ADAR gene.

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AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

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Aicardi-Goutieres Syndrome NGS Panel Panel

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States. Aicardi-Goutieres Syndrome NGS Panel that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

More info about this panel

Epileptic Encephalopathy Panel Panel

By CeGaT GmbH in Germany. Epileptic Encephalopathy Panel that also includes the following genes: MTHFR UBE3A ADSL CPT2 MECP2 GAMT STXBP1 SLC25A22 GCSH GLDC

More info about this panel

Aicardi-Goutières Syndrome Panel Panel

By CeGaT GmbH in Germany. Aicardi-Goutières Syndrome Panel that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 ADAR

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

By CeGaT GmbH in Germany. Genetic disorders with abnormal pigmentation Panel that also includes the following genes: HFE KRT5 ABCB6 BLM PTPN11 NF2 STK11 NF1 EDN3 PAX3

More info about this panel

Leukodystrophy / Leukencephalopathy Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: PSAP HSPD1 ABCD1 GALC L2HGDH ARSA ASPA EIF2B1 GJC2 PLP1

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: PSAP HSPD1 ABCD1 GALC L2HGDH ARSA ASPA EIF2B1 GJC2 PLP1

More info about this panel

Basal ganglia calcification Panel Panel

By CeGaT GmbH in Germany. Basal ganglia calcification Panel that also includes the following genes: TYROBP POLG PANK2 CA2 GALC AIRE BRAF FOLR1 COL4A1 SAMHD1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: AARS2 PC TYROBP ATP7A ATP7B AUH BCS1L C12orf65 MMACHC HSD17B4

More info about this panel

Syndromes with immunodeficiency Panel Panel

By CeGaT GmbH in Germany. Syndromes with immunodeficiency Panel that also includes the following genes: PMS2 STAT3 BLM RMRP RUNX2 TINF2 FGFR2 ATM MRE11 NBN

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Single gene testing ADAR Panel

By CeGaT GmbH in Germany.

This panel specifically test the ADAR gene.

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: AARS2 TYROBP HSD17B4 PSAP HSPD1 SCP2 DARS2 ABCD1 ALDH3A2 ACOX1

More info about this panel

Epilepsy Panel

By Asper Biogene Asper Biogene LLC in Estonia. Epilepsy that also includes the following genes: UBE3A MCCC1 ADSL TUBB3 POLG MECP2 GAMT GATM STXBP1 SLC25A22

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel

By Asper Biogene Asper Biogene LLC in Estonia. Leukodystrophy and Leukoencephalopathy that also includes the following genes: PSAP HSPD1 SCP2 DARS2 ABCD1 GALC L2HGDH ARSA ASPA EIF2B1

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Dyschromatosis symmetrica Panel

By Praxis fuer Humangenetik Wien in Austria.

This panel specifically test the ADAR gene.

More info about this panel

Dyschromatosis symmetrica Panel

By MedGene in Slovakia.

This panel specifically test the ADAR gene.

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

By Invitae in United States. Invitae Monogenic Autoimmunity Panel that also includes the following genes: STAT1 CASP8 AP3B1 UNG CYBA STAT3 PNP AIRE RMRP PRF1

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Invitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel

By Invitae in United States. Invitae Mendelian Susceptibility to Mycobacterial Disease Panel that also includes the following genes: STAT1 GATA2 CYBB SAMHD1 ADAR MYD88 IFNGR1 IFNGR2 IRAK4 IL12RB1

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Invitae Primary Immunodeficiency Panel Panel

By Invitae in United States. Invitae Primary Immunodeficiency Panel that also includes the following genes: PMS2 STAT1 SLC37A4 CASP8 TLR3 HAX1 AP3B1 UNG TAP1 TAZ

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Aicardi-Goutieres syndrome Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Aicardi-Goutieres syndrome that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 ADAR

More info about this panel

ADAR - Sanger Gene sequencing ( ADAR) Panel

By Genome Diagnostics VU University Medical Center in Netherlands.

This panel specifically test the ADAR gene.

More info about this panel

Dystonia: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Dystonia: Sequencing Panel that also includes the following genes: PTEN ATP7B AUH PSEN1 HPRT1 AFG3L2 FOXRED1 PANK2 SCP2 GAMT

More info about this panel

Intellectual Disability NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Intellectual Disability NGS Panel that also includes the following genes: BRCA2 F5 FMR1 MTHFR TTR UBE3A PTEN MCCC1 MCCC2 AGL

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ADAR Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADAR gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Comprehensive Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 AUH BCS1L TWNK C12orf65

More info about this panel

Primary Immunodeficiency Panel Panel

By Blueprint Genetics in Finland. Primary Immunodeficiency Panel that also includes the following genes: PMS2 RECQL4 STAT1 SLC37A4 CASP8 CLCN7 HAX1 AP3B1 UNG TAP1

More info about this panel

Aicardi-Goutières Syndrome Panel Panel

By Blueprint Genetics in Finland. Aicardi-Goutières Syndrome Panel that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

More info about this panel

Autoinflammatory Syndrome Panel Panel

By Blueprint Genetics in Finland. Autoinflammatory Syndrome Panel that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 NLRP3 MVK PSMB8 IFIH1 ADAR

More info about this panel

Comprehensive Metabolism Panel Panel

By Blueprint Genetics in Finland. Comprehensive Metabolism Panel that also includes the following genes: HFE MTHFR MCCC1 MCCC2 ACAD9 ACADL ACADM ACADS AGL ACADVL

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Epileptic Encephalopathy Panel Panel

By Blueprint Genetics in Finland. Epileptic Encephalopathy Panel that also includes the following genes: HTT MTHFR UBE3A ADSL CPT2 POLG NDUFS4 MECP2 DNM1L TTC19

More info about this panel

Leukodystrophy and Leukoencephalopathy Panel Panel

By Blueprint Genetics in Finland. Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: PSAP HSPD1 FOXRED1 NFU1 TTC19 NUBPL DARS2 GFM1 D2HGDH AIFM1

More info about this panel

Comprehensive Epilepsy Panel Panel

By Blueprint Genetics in Finland. Comprehensive Epilepsy Panel that also includes the following genes: HTT MTHFR UBE3A ARG1 BTD ADSL AMACR CPT2 PSAP GLB1

More info about this panel

Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. Aicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

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ADAR Gene Sequencing and Deletion/Duplication Analysis Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

This panel specifically test the ADAR gene.

More info about this panel

DYSCHROMATOSIS SYMMETRICA HEREDITARIA Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ADAR gene.

More info about this panel

AICARDI-GOUTIERES SYNDROME Panel

By Laboratorio de Genetica Clinica SL in Spain. AICARDI-GOUTIERES SYNDROME that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

More info about this panel

Aicardi-Goutieres Type 6 Syndrome, Sequencing ADAR Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ADAR gene.

More info about this panel

Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes Panel

By Reference Laboratory Genetics in Spain. Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes that also includes the following genes: SAMHD1 RNASEH2A RNASEH2C RNASEH2B TREX1 IFIH1 ADAR

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Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel

By Reference Laboratory Genetics in Spain. Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: KRT5 ADAR KRT14 POGLUT1 POFUT1 ADAM10

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