SAMHD1 gene related symptoms and diseases
All the information presented here about the SAMHD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SAMHD1 gene
Symptoms // Phenotype | % Cases |
---|---|
Basal ganglia calcification | Uncommon - Between 30% and 50% cases |
Thrombocytopenia | Uncommon - Between 30% and 50% cases |
Leukoencephalopathy | Uncommon - Between 30% and 50% cases |
Leukodystrophy | Uncommon - Between 30% and 50% cases |
CSF lymphocytic pleiocytosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SAMHD1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Postnatal microcephaly
- Chilblains
- Intellectual disability, profound
- Cerebral calcification
- Deep white matter hypodensities
- Skin rash
- Irritability
- Feeding difficulties in infancy
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SAMHD1 gene
Here you will find a list of rare diseases related to the SAMHD1. 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
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.
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
CHILBLAIN LUPUS 2; CHBL2
Description
Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE ) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011).For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (OMIM ).
Most common symptoms of CHILBLAIN LUPUS 2; CHBL2
- Edema
- Cutaneous photosensitivity
- Inflammatory abnormality of the skin
- Vasculitis
- Systemic lupus erythematosus
More info about CHILBLAIN LUPUS 2; CHBL2
SOURCES: OMIM
FAMILIAL CHILBLAIN LUPUS
Search interest in SAMHD1
Potential gene panels for SAMHD1 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
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
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panelHereditary Spastic Paraplegia Panel Panel
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 panelAicardi-Goutieres Syndrome 5 - SAMHD1 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SAMHD1 gene.
More info about this panelDystonia Panel
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 panelMovement Disorders Panel Panel
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 panelDystonia Exome Panel Panel
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 panelSAMHD1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SAMHD1 gene.
More info about this panelSAMHD1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SAMHD1 gene.
More info about this panelAicardi-Goutieres syndrome type 5 (sequence analysis of SAMHD1 gene) Panel
By CGC Genetics
This panel specifically test the SAMHD1 gene.
More info about this panelAicardi-Goutieres syndrome (NGS panel for 7 genes) Panel
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 panelEpileptic encephalopathy (NGS panel for 67 genes) Panel
By CGC Genetics Epileptic encephalopathy (NGS panel for 67 genes) that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 SLC2A1 SLC9A6 SPTAN1 CDKL5
More info about this panelAicardi-Goutières Syndrome Sequencing Panel with CNV Detection Panel
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 panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
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 panelAicardi-Goutières Syndrome 5 via SAMHD1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SAMHD1 gene.
More info about this panelMental retardation - different panels Panel
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 panelAicardi-Goutières Syndrome Panel
By MGZ Medical Genetics Center Aicardi-Goutières Syndrome that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
More info about this panelNeurogenetic Disorders - panels Panel
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 panelBrain Malformations / Neuronal Migration Disorders Panel
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 panelEpileptic syndromes with epilepsy and intellectual disability panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4
More info about this panelAicardi-Goutieres syndrome type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SAMHD1 gene.
More info about this panelAllNeuro panel Panel
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 panelAicardi-Goutieres syndrome panel Panel
By Centogene AG - the Rare Disease Company Aicardi-Goutieres syndrome panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A RNASEH2C RNASEH2B
More info about this panelAicardi-Goutieres Syndrome NGS Panel Panel
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 panelEpileptic Encephalopathy Panel Panel
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 panelAicardi-Goutières Syndrome Panel Panel
By CeGaT GmbH Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A ADAR RNASEH2C RNASEH2B
More info about this panelLeukodystrophy / Leukencephalopathy Panel Panel
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 panelLeukodystrophy and Leukoencephalopathy Panel Panel
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 panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelBasal ganglia calcification Panel Panel
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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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 panelSingle gene testing SAMHD1 Panel
By CeGaT GmbH
This panel specifically test the SAMHD1 gene.
More info about this panelSyndromes with immunodeficiency Panel Panel
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 panelLeukodystrophy / Leukoencephalopathy Panel Panel
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 panelLeukodystrophy and Leukoencephalopathy Panel
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 panelInvitae Monogenic Autoimmunity Panel Panel
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 panelInvitae Mendelian Susceptibility to Mycobacterial Disease Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelAicardi-Goutieres syndrome Panel
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 panelLeukodistrophy Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panelSAMHD1 - Gene sequencing Panel
By Genome Diagnostics VU University Medical Center
This panel specifically test the SAMHD1 gene.
More info about this panelDystonia: Sequencing Panel Panel
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 panelAicardi-Goutieres Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Aicardi-Goutieres Syndrome NGS Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A RNASEH2C RNASEH2B
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelIntellectual Disability NGS Panel Panel
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 panelSAMHD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SAMHD1 gene.
More info about this panelEssential Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Essential Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelPrimary Immunodeficiency Panel Panel
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 panelAicardi-Goutières Syndrome Panel Panel
By Blueprint Genetics Aicardi-Goutières Syndrome Panel that also includes the following genes: TREX1 SAMHD1 RNASEH2A IFIH1 ADAR RNASEH2C RNASEH2B
More info about this panelAutoinflammatory Syndrome Panel Panel
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 panelComprehensive Metabolism Panel Panel
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 panelEpileptic Encephalopathy Panel Panel
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 panelLeukodystrophy and Leukoencephalopathy Panel Panel
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 panelComprehensive Epilepsy Panel Panel
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 panelAICARDI-GOUTIERES SYNDROME 5; AGS5 Panel
By Bioarray
This panel specifically test the SAMHD1 gene.
More info about this panelSAMHD1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SAMHD1 gene.
More info about this panelAicardi-Goutieres Syndromes NGS Panel and Deletion/Duplication Analysis Panel
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 panelAicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the SAMHD1 gene.
More info about this panelAICARDI-GOUTIERES SYNDROME Panel
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 panelAICARDI-GOUTIERES SYNDROME NGS PANEL Panel
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 panelAicardi-Goutieres Type 5 Syndrome, Sequencing SAMHD1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SAMHD1 gene.
More info about this panelLeukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panelAicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes Panel
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
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