ARHGEF10 gene related symptoms and diseases

All the information presented here about the ARHGEF10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ARHGEF10 gene

Symptoms // Phenotype % Cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Areflexia Very Common - Between 80% and 100% cases
Pes cavus Very Common - Between 80% and 100% cases
Sensory neuropathy Very Common - Between 80% and 100% cases
Peripheral demyelination Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ARHGEF10 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decreased nerve conduction velocity
  • Onion bulb formation

Rare diseases associated to ARHGEF10 gene

Here you will find a list of rare diseases related to the ARHGEF10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

Description

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Most common symptoms of AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

  • Peripheral neuropathy
  • Areflexia
  • Pes cavus
  • Sensory neuropathy
  • Peripheral demyelination


More info about AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ARHGEF10 gene

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel
United States.

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel
United States.

Slowed nerve conduction velocity AD (sequence analysis of ARHGEF10 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ARHGEF10 gene.

More info about this panel
Portugal.

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel
Portugal.

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel
Germany.

ARHGEF10 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the ARHGEF10 gene.

More info about this panel
Germany.

Slowed nerve conduction velocity AD Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ARHGEF10 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.

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel
Germany.

Charcot-Marie-Tooth Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7

More info about this panel
Estonia.

ARHGEF10 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARHGEF10 gene.

More info about this panel
United States.

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel
Finland.

Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel Panel

Canada.

By LifeLabs Genetics Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel that also includes the following genes: SLC12A6 YARS ARHGEF10 GDAP1 KIF1B MFN2 TRPV4 AARS MED25 DYNC1H1

More info about this panel
Canada.

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