MAG gene related symptoms and diseases

All the information presented here about the MAG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAG gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Paraparesis Very Common - Between 80% and 100% cases
Paraplegia Very Common - Between 80% and 100% cases
Astigmatism Very Common - Between 80% and 100% cases
Dysmetria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAG gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Neurodegeneration
  • Abnormal cerebellum morphology
  • Spastic gait
  • Clonus
  • Leukodystrophy
  • Spastic paraparesis
  • Abnormality of the cerebral white matter
  • Impaired vibratory sensation

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAG gene

Here you will find a list of rare diseases related to the MAG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Description

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

SOURCES: OMIM ORPHANET


Potential gene panels for MAG 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

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel

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

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

Spastic Paraplegia 75 via MAG Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MAG gene.

More info about this panel

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

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

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

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

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

More info about this panel

MAG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAG gene.

More info about this panel


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