GFAP gene related symptoms and diseases
All the information presented here about the GFAP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GFAP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Vomiting | Uncommon - Between 30% and 50% cases |
| Respiratory insufficiency | Uncommon - Between 30% and 50% cases |
| Respiratory failure | Uncommon - Between 30% and 50% cases |
| Peripheral demyelination | Uncommon - Between 30% and 50% cases |
| Recurrent singultus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GFAP gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Pain
- Sudden cardiac death
- Muscle stiffness
- Leukodystrophy
- Clonus
- Diplopia
- Cerebral calcification
- Amenorrhea
And 97 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GFAP gene
Here you will find a list of rare diseases related to the GFAP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEUROMYELITIS OPTICA
Alternate names
NEUROMYELITIS OPTICA Is also known as devic disease
Description
Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.
Most common symptoms of NEUROMYELITIS OPTICA
- Pain
- Respiratory insufficiency
- Vomiting
- Visual loss
- Respiratory failure
More info about NEUROMYELITIS OPTICA
ALEXANDER DISEASE; ALXDRD
Description
In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.
Most common symptoms of ALEXANDER DISEASE; ALXDRD
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about ALEXANDER DISEASE; ALXDRD
ALEXANDER DISEASE TYPE I
Alternate names
ALEXANDER DISEASE TYPE I Is also known as axd type i
Description
Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
More info about ALEXANDER DISEASE TYPE I
SOURCES: ORPHANET
ALEXANDER DISEASE TYPE II
Alternate names
ALEXANDER DISEASE TYPE II Is also known as axd type ii
Description
Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.
More info about ALEXANDER DISEASE TYPE II
SOURCES: ORPHANET
Search interest in GFAP
Potential gene panels for GFAP gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
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 panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel United States.
GFAP (Alexander Disease) Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GFAP gene.
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Alexander disease Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the GFAP gene.
More info about this panel Switzerland.
GFAP Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the GFAP gene.
More info about this panel United States.
Alexander Disease Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the GFAP gene.
More info about this panel Czech Republic.
GFAP. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GFAP gene.
More info about this panel Spain.
Macrocephaly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel Portugal.
Alexander disease (sequence analysis of GFAP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GFAP gene.
More info about this panel Portugal.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Alexander Disease via GFAP Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GFAP gene.
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.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
GFAP Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the GFAP gene.
More info about this panel Germany.
Mitochondrial Leucodystrophy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Leucodystrophy that also includes the following genes: DARS2 EIF2AK3 SDHAF1 GFAP AUH
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Epileptic Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panel Germany.
Epilepsy and Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Mitochondrial Encephalopathy Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panel Germany.
Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Alexander disease (GFAP) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the GFAP gene.
More info about this panel Netherlands.
Alexander disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GFAP 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.
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.
Macrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
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.
Macrocephaly Panel Panel
Germany.
By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
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.
Single gene testing GFAP Panel
Germany.
By CeGaT GmbH
This panel specifically test the GFAP 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.
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.
Alexander disease: GFAP gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GFAP gene.
More info about this panel Spain.
Leukodistrophy Panel
Spain.
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 panel Spain.
Epilepsy NGS Panel Panel
United States.
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 panel United States.
Leukoencephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
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.
GFAP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GFAP 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.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
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.
Alexander disease Panel
Spain.
By Bioarray
This panel specifically test the GFAP gene.
More info about this panel Spain.
ALEXANDER SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GFAP gene.
More info about this panel Spain.
Alexander disease Panel
Canada.
By LifeLabs Genetics
This panel specifically test the GFAP gene.
More info about this panel Canada.
Alexander Disease, Sequencing GFAP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GFAP gene.
More info about this panel Spain.
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
Spain.
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 panel Spain.
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel
Spain.
By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA
More info about this panel Spain.
Alexander's disease Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the GFAP gene.
More info about this panel Germany.
Alexander disease - GFAP gene sequencing Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the GFAP gene.
More info about this panel India.
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