Autosomal Dominant Charcot-marie-tooth Disease Type 2k

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

Genes related to Autosomal Dominant Charcot-marie-tooth Disease Type 2k

GDAP1

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Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Charcot-marie-tooth Disease Type 2k

Motor delay
Skeletal muscle atrophy
Gait disturbance
Arrhythmia
Proximal muscle weakness
Distal muscle weakness
Distal sensory impairment
Peripheral demyelination
Decreased nerve conduction velocity
Hand muscle atrophy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Charcot-marie-tooth Disease Type 2k Is also known as cmt2k.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Dominant Charcot-marie-tooth Disease Type 2k extracted from public data.

Autosomal Dominant Charcot-marie-tooth Disease Type 2k Experts map

Current Researchs and researchers

ESPLUGUES DE LLOBREGAT — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)

MADRID — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)

VALENCIA — Pr Francesc PALAU
Clinical geneticist - Genetic counsellor - Investigator of research project - Manager of biobank/collection - Coordinator of research network - Director of department
- Institution/s:
  — Servicio de Neurología, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia (CSIC)
  — Servicio de Medicina Genética y Molecular, Hospital Sant Joan de Déu Barcelona
  — Hospital Sant Joan de Déu Barcelona
  — ISCIII - Instituto de Salud Carlos III
- Research area/topic::
  Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)

Autosomal Dominant Charcot-marie-tooth Disease Type 2k Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Recessive, Demyelinating. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1 Specificity 13 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22 Specificity 7 % Genes 100 %
CMT Advanced Evaluation - Recessive. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1 Specificity 12 % Genes 100 %
GDAP1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). GDAP1 Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...) View the complete list with 1 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22 Specificity 8 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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