HEXB gene related symptoms and diseases
All the information presented here about the HEXB 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 HEXB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Impotence | Uncommon - Between 30% and 50% cases |
| Cardiomegaly | Uncommon - Between 30% and 50% cases |
| Psychosis | Uncommon - Between 30% and 50% cases |
| Progressive neurologic deterioration | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HEXB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Chronic diarrhea
- Hypohidrosis
- Fasciculations
- Hemiplegia
- Emotional lability
- Orthostatic hypotension
- Progressive cerebellar ataxia
- Episodic abdominal pain
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HEXB gene
Here you will find a list of rare diseases related to the HEXB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SANDHOFF DISEASE, ADULT FORM
Alternate names
SANDHOFF DISEASE, ADULT FORM Is also known as hexosaminidases a and b deficiency, adult form, adult gm2 gangliosidosis 0 variant
More info about SANDHOFF DISEASE, ADULT FORM
SOURCES: ORPHANET
SANDHOFF DISEASE, JUVENILE FORM
Alternate names
SANDHOFF DISEASE, JUVENILE FORM Is also known as juvenile gm2 gangliosidosis 0 variant, hexosaminidases a and b deficiency, juvenile form
More info about SANDHOFF DISEASE, JUVENILE FORM
SOURCES: ORPHANET
SANDHOFF DISEASE, INFANTILE FORM
Alternate names
SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant, hexosaminidases a and b deficiency, hexosaminidases a and b deficiency, infantile form, gm2-gangliosidosis, type ii
Description
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).
Most common symptoms of SANDHOFF DISEASE, INFANTILE FORM
- Intellectual disability
- Seizures
- Hearing impairment
- Ataxia
- Muscle weakness
More info about SANDHOFF DISEASE, INFANTILE FORM
Search interest in HEXB
Potential gene panels for HEXB gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
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.
Lysosomal Storage Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Argentina.
Sandhoff disease Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the HEXB gene.
More info about this panel Switzerland.
Sandhoff 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 HEXB gene.
More info about this panel Czech Republic.
HEXB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HEXB gene.
More info about this panel Spain.
GM2-gangliosidosis type 2 (Sandhoff disease, sequence analysis of HEXB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HEXB gene.
More info about this panel Portugal.
Sandhoff Disease via HEXB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HEXB gene.
More info about this panel United States.
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.
Progressive Myoclonic Epilepsy Panel
Germany.
By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3
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.
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.
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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Sandhoff disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HEXB gene.
More info about this panel Germany.
GM2-gangliosidosis type II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HEXB gene.
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
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.
Ataxia, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panel Germany.
Lysosomal Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Estonia.
Sandhoff disease Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HEXB gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Sandhoff disease Panel
Slovakia.
By MedGene
This panel specifically test the HEXB gene.
More info about this panel Slovakia.
Invitae Sandhoff Disease Test Panel
United States.
By Invitae
This panel specifically test the HEXB gene.
More info about this panel United States.
Invitae GM2 Gangliosidosis Panel Panel
United States.
By Invitae Invitae GM2 Gangliosidosis Panel that also includes the following genes: GM2A HEXA HEXB
More info about this panel United States.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
Sandhoff disease: HEXB gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HEXB gene.
More info about this panel Spain.
Sandhoff Disease: HEXB Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HEXB gene.
More info about this panel United States.
Sandhoff Disease: HEXB Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HEXB gene.
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Sandhoff Disease (HEXB) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the HEXB gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
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.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
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.
HEXB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HEXB 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.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
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.
Sandhoff disease, infantile, juvenile, and adult forms Panel
Spain.
By Bioarray
This panel specifically test the HEXB gene.
More info about this panel Spain.
GM2 GANGLIOSIDOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL GM2 GANGLIOSIDOSIS that also includes the following genes: GM2A HEXB
More info about this panel Spain.
SANDHOFF DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HEXB gene.
More info about this panel Spain.
Sandhoff Disease, Sequencing HEXB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HEXB gene.
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene Panel
Spain.
By Reference Laboratory Genetics GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene that also includes the following genes: GLB1 GM2A HEXA HEXB
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
planTrue ACOG & ACMG Screen Panel
United States.
By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panel United States.
planTrue Standard Panel
United States.
By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel United States.
planTrue Jewish Screen Panel
United States.
By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel United States.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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