LITAF gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LITAF gene

Symptoms // Phenotype % Cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Distal amyotrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LITAF gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Distal sensory impairment
  • Decreased motor nerve conduction velocity
  • Onion bulb formation
  • Segmental peripheral demyelination/remyelination
  • Hypertrophic nerve changes

Rare diseases associated to LITAF gene

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


CHARCOT-MARIE-TOOTH DISEASE TYPE 1C

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 1C Is also known as cmt1c


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1C

SOURCES: ORPHANET

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C Is also known as neuropathy, hereditary motor and sensory, type ic, hmsn ic, cmt, slow nerve conduction type c, charcot-marie-tooth neuropathy, type 1c, hmsn1c

Description

For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C

  • Muscle weakness
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness
  • Distal amyotrophy


More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C

SOURCES: OMIM


Potential gene panels for LITAF gene

CMT Advanced Evaluation - Dominant Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant that also includes the following genes: YARS LITAF MFN2 TRPV4 DNM2 HSPB8 EGR2 GARS HSPB1 MPZ

More info about this panel
United States.

CMT Advanced Evaluation - Dominant, Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Dominant, Demyelinating that also includes the following genes: YARS LITAF DNM2 EGR2 MPZ PMP22

More info about this panel
United States.

CMT Advanced Evaluation - Comprehensive Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Comprehensive that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 MFN2 TRPV4 FGD4 SBF2 SH3TC2

More info about this panel
United States.

CMT Advanced Evaluation - Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2

More info about this panel
United States.

LITAF/SIMPLE DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the LITAF gene.

More info about this panel
United States.

CMT Advanced Evaluation - Nonprevalent Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 TRPV4 FGD4 SBF2 SH3TC2 DNM2

More info about this panel
United States.

CMT Advanced Evaluation - Nonprevalent Demyelinating Panel

United States.

By Athena Diagnostics Inc CMT Advanced Evaluation - Nonprevalent Demyelinating that also includes the following genes: YARS PRX GDAP1 LITAF FIG4 FGD4 SBF2 SH3TC2 DNM2 EGR2

More info about this panel
United States.

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

More info about this panel
United States.

Charcot-Marie-Tooth Syndrome Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4

More info about this panel
United States.

Charcot Marie Tooth Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
Argentina.

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.

Charcot-Marie-Tooth Panel

Switzerland.

By Human Genetics University Hospital Bern Charcot-Marie-Tooth that also includes the following genes: YARS PRX BSCL2 GDAP1 LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2

More info about this panel
Switzerland.

LITAF. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LITAF gene.

More info about this panel
Spain.

Charcot-Marie-Tooth disease type 1C (CMT1C, sequence analysis of LITAF gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LITAF 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.

Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4

More info about this panel
Portugal.

Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1

More info about this panel
United States.

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
United States.

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
United States.

Charcot-Marie-Tooth 1C via LITAF Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LITAF gene.

More info about this panel
United States.

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel
United States.

Charcot-Marie-Tooth disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel
United States.

Charcot-Marie-Tooth disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel
United States.

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.

Charcot-Marie-Tooth Neuropathy Type 1C Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the LITAF gene.

More info about this panel
Germany.

Charcot Marie Tooth Type 1 Panel Panel

United States.

By FirmaLab Charcot Marie Tooth Type 1 Panel that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22

More info about this panel
United States.

CMT1C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LITAF 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.

LITAF - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the LITAF gene.

More info about this panel
Netherlands.

Charcot-Marie-Tooth Neuropathy Type 1C (LITAF) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the LITAF gene.

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.

Charcot-Marie-Tooth 1C Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LITAF gene.

More info about this panel
Austria.

Charcot-Marie-Tooth 1C Panel

Slovakia.

By MedGene

This panel specifically test the LITAF gene.

More info about this panel
Slovakia.

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
United States.

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2

More info about this panel
United States.

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2

More info about this panel
United States.

CHARCOT- MARIE TOOTH Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
Spain.

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
United States.

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
United States.

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
United States.

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
United States.

LITAF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LITAF 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 type 1C Panel

Spain.

By Bioarray

This panel specifically test the LITAF gene.

More info about this panel
Spain.

CHARCOT-MARIE-TOOTH DISEASE TYPE 1C Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LITAF gene.

More info about this panel
Spain.

CHARCOT-MARIE-TOOTH : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
Spain.

Charcot-Marie-Tooth neuropathy demyelinating panel Panel

Canada.

By LifeLabs Genetics Charcot-Marie-Tooth neuropathy demyelinating panel that also includes the following genes: PRX LITAF FIG4 FGD4 SBF2 CTDP1 SH3TC2 EGR2 GJB1 MPZ

More info about this panel
Canada.

Charcot-Marie-Tooth Disease Type 1C, Sequencing LITAF Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LITAF gene.

More info about this panel
Spain.

Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SLC12A6 YARS PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
Spain.

Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel
Spain.

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

More info about this panel
Spain.

Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: LITAF EGR2 MPZ NEFL PMP22

More info about this panel
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COQ6 CHCHD10 ADD3 CFTR FANCL NKX2-1 SLC20A2