SPTLC2 gene related symptoms and diseases

All the information presented here about the SPTLC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPTLC2 gene

Symptoms // Phenotype % Cases
Abnormal autonomic nervous system physiology Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Distal sensory loss of all modalities Very Common - Between 80% and 100% cases
Distal muscle weakness Very Common - Between 80% and 100% cases
Peripheral axonal neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPTLC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Distal sensory impairment
  • Sensory neuropathy
  • Gait disturbance
  • Osteomyelitis
  • Muscle weakness
  • Anhidrosis
  • Not very common - Between 30% and 50% cases

  • Restless legs
  • Brisk reflexes

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SPTLC2 gene

Here you will find a list of rare diseases related to the SPTLC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1


Alternate names

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i, hsan1, hsan ia, hsn ia, neuropathy, hereditary sensory, type ia, hsn1a, neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Description

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

Most common symptoms of HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

SOURCES: OMIM ORPHANET

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C


Alternate names

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic, hsn1c, hsn ic, hsan ic

Most common symptoms of NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia


More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

SOURCES: OMIM


Potential gene panels for SPTLC2 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

SPTLC2 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SPTLC2 gene.

More info about this panel

Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Panel

United States.

By Athena Diagnostics Inc Late Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation that also includes the following genes: SPTLC1 SPTLC2

More info about this panel

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

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

SPTLC2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SPTLC2 gene.

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Type IC (sequence analysis of SPTLC2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SPTLC2 gene.

More info about this panel

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

Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX

More info about this panel

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

Hereditary Sensory and Autonomic Neuropathy Type IC Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SPTLC2 gene.

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

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

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

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel

United States.

By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1

More info about this panel

SPTLC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SPTLC2 gene.

More info about this panel

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

Hereditary sensory and autonomic neuropathy type 1C Panel

Spain.

By Bioarray

This panel specifically test the SPTLC2 gene.

More info about this panel

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 that also includes the following genes: SPTLC1 SPTLC2

More info about this panel

Hereditary Sensory and Autonomic Neuropathy Type IC , Sequencing SPTLC2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SPTLC2 gene.

More info about this panel


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