ARSI gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to ARSI gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Hypoplasia of the corpus callosum Very Common - Between 80% and 100% cases
Areflexia Very Common - Between 80% and 100% cases
Cerebellar hypoplasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Difficulty walking
  • Lower limb spasticity
  • Spastic gait
  • Progressive spastic paraplegia
  • Impaired vibration sensation in the lower limbs
  • Limb hypertonia
  • Colpocephaly
  • Lower limb amyotrophy

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ARSI gene

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


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66


Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66 Is also known as spg66

Description

Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66

  • Intellectual disability
  • Talipes equinovarus
  • Hypoplasia of the corpus callosum
  • Areflexia
  • Cerebellar hypoplasia


More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66

SOURCES: ORPHANET


Potential gene panels for ARSI gene

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

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

Single gene testing ARSI Panel

Germany.

By CeGaT GmbH

This panel specifically test the ARSI gene.

More info about this panel

ARSI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ARSI gene.

More info about this panel


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