B3GALNT2 gene related symptoms and diseases
All the information presented here about the B3GALNT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to B3GALNT2 gene
Symptoms // Phenotype | % Cases |
---|---|
Cerebellar dysplasia | Common - Between 50% and 80% cases |
Optic nerve hypoplasia | Common - Between 50% and 80% cases |
Lissencephaly | Common - Between 50% and 80% cases |
Hydrocephalus | Common - Between 50% and 80% cases |
Microphthalmia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with B3GALNT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscular dystrophy
- Severe muscular hypotonia
- Myopia
- Elevated serum creatine phosphokinase
- Cerebellar hypoplasia
- Congenital muscular dystrophy
- Cataract
- Type II lissencephaly
And 134 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to B3GALNT2 gene
Here you will find a list of rare diseases related to the B3GALNT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUSCLE-EYE-BRAIN DISEASE
Alternate names
MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome, santavuori congenital muscular dystrophy, walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related, muscle-eye-brain syndrome
Description
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
Most common symptoms of MUSCLE-EYE-BRAIN DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MUSCLE-EYE-BRAIN DISEASE
WALKER-WARBURG SYNDROME
Alternate names
WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome
Description
Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.
Most common symptoms of WALKER-WARBURG SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about WALKER-WARBURG SYNDROME
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
Alternate names
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related
Description
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
- Global developmental delay
- Generalized hypotonia
- Muscle weakness
- Cataract
- Spasticity
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in B3GALNT2
Potential gene panels for B3GALNT2 gene
Congenital Muscular Dystrophy Advanced Sequencing Evaluation Panel
By Athena Diagnostics Inc Congenital Muscular Dystrophy Advanced Sequencing Evaluation that also includes the following genes: TCAP RXYLT1 B4GAT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelNeuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panelCerebral Cortical Malformation Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelLissencephaly Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP
More info about this panelComprehensive Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX
More info about this panelCobblestone Lissencephaly Panel Panel
By Genetic Services Laboratory University of Chicago Cobblestone Lissencephaly Panel that also includes the following genes: SNAP29 RXYLT1 B4GAT1 FKRP ATP6V0A2 POMGNT1 POMT2 GMPPB SRD5A3 POMK
More info about this panelCongenital Muscular Dystrophy Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelCongenital Muscular Dystrophy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelCerebral Cortical Malformations Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panelCongenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelLissencephaly Panel Panel
By GeneDx Lissencephaly Panel that also includes the following genes: VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 FKRP ARX ATP6V0A2 POMGNT1
More info about this panelCongenital muscular dystrophy and hypoglycosylation of a-dystroglycan (sequence analysis of B3GALNT2 gene) Panel
By CGC Genetics
This panel specifically test the B3GALNT2 gene.
More info about this panelDystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelCongenital Muscular Dystrophy Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3
More info about this panelDystroglycanopathy via B3GALNT2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the B3GALNT2 gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panelLissencephaly and related disorders NGS test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Deletion / Duplication test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelLissencephaly and related disorders Comprehensive test Panel
By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panelMuscular dystrophy, dystroglycanopathy Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Muscular dystrophy, dystroglycanopathy that also includes the following genes: RXYLT1 B3GNT2 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
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 panelAlpha-Dystroglycanopathy Panel
By MGZ Medical Genetics Center Alpha-Dystroglycanopathy that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK B3GALNT2 FKTN
More info about this panelMuscle Disease with CNS Involvement Panel
By MGZ Medical Genetics Center Muscle Disease with CNS Involvement that also includes the following genes: SNAP25 TTN RXYLT1 CCDC78 MICU1 B4GAT1 SYNE1 FKRP POMGNT1 CHKB
More info about this panelNewborn: “Floppy Infant “ Panel
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panelCongenital muscular dystrophy and hypoglycosylation of a-dystroglycan Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the B3GALNT2 gene.
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelNeuronal Migration Disorders Panel Panel
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panelWalker-Warburg Syndrome Panel Panel
By CeGaT GmbH Walker-Warburg Syndrome Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 COL4A1 GMPPB POMGNT2 POMK DAG1
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panelInvitae Dystroglycanopathy Panel Panel
By Invitae Invitae Dystroglycanopathy Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panelInvitae Comprehensive Muscular Dystrophy Panel Panel
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panelInvitae Congenital Muscular Dystrophy Panel Panel
By Invitae Invitae Congenital Muscular Dystrophy Panel that also includes the following genes: TCAP RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panelCongenital Muscular Dystrophy: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelCongenital Muscular Dystrophy: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panelLGMD and Congenital Muscular Dystrophy Panel Panel
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panelNeuronal Migration Disorder Panel Panel
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panelWALKER - WALBURG SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL WALKER - WALBURG SYNDROME NGS PANEL that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 POMK DAG1 B3GALNT2 FKTN
More info about this panelWalker-Warburg Syndrome , Panel Massive Sequencing 13 Genes Panel
By Reference Laboratory Genetics Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMK DAG1 B3GALNT2 FKTN
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