IFIH1 gene related symptoms and diseases
All the information presented here about the IFIH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IFIH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Scaling skin | Common - Between 50% and 80% cases |
| Chilblains | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with IFIH1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Basal ganglia calcification
- Toe walking
- Lower limb spasticity
- Skin rash
- Irritability
- Muscular hypotonia of the trunk
- Thrombocytopenia
- Feeding difficulties
And 118 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IFIH1 gene
Here you will find a list of rare diseases related to the IFIH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SINGLETON-MERTEN DYSPLASIA
Alternate names
SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome
Description
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Most common symptoms of SINGLETON-MERTEN DYSPLASIA
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
- Muscle weakness
More info about SINGLETON-MERTEN DYSPLASIA
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 7; AGS7
Description
Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).
Most common symptoms of AICARDI-GOUTIERES SYNDROME 7; AGS7
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about AICARDI-GOUTIERES SYNDROME 7; AGS7
SOURCES: OMIM
Search interest in IFIH1
Potential gene panels for IFIH1 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 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.
IFIH1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the IFIH1 gene.
More info about this panel Germany.
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.
Aicardi-Goutières Syndrome 7 and Singleton-Merton Syndrome 1 via IFIH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the IFIH1 gene.
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-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.
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.
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.
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 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.
IFIH1 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the IFIH1 gene.
More info about this panel Netherlands.
IFIH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IFIH1 gene.
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.
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.
IFIH1 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 IFIH1 gene.
More info about this panel United States.
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 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.
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