Charcot-marie-tooth Disease Type 2b2

Table of contents:

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

Description

Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.

Genes related to Charcot-marie-tooth Disease Type 2b2

MED25

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Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease Type 2b2

Muscle weakness
Peripheral neuropathy
Skeletal muscle atrophy
Areflexia
Hyporeflexia
Distal muscle weakness
Distal amyotrophy
Distal sensory impairment
Sensory neuropathy
Polyneuropathy

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 families with CHARCOT-MARIE-TOOTH DISEASE TYPE 2B2 in Europe.
— No data available about the known clinical features onset.

Alternative names

Charcot-marie-tooth Disease Type 2b2 Is also known as ar-cmt2b2, autosomal recessive axonal charcot-marie-tooth disease type 2b2, arcmt2b, charcot-marie-tooth neuropathy, type 2b2, autosomal recessive axonal cmt4c3, charcot-marie-tooth disease, neuronal, type 2b2, charcot-marie-tooth disease, axonal, autosomal rec.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Charcot-marie-tooth Disease Type 2b2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Charcot-Marie-Tooth Hereditary Neuropathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...) View the complete list with 34 more genes Panel complete gene list SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, MORC2, INF2, LRSAM1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GAN, GARS, GJB1, HARS, HINT1, DNAJB2, HSPB1, IGHMBP2, KARS, LMNA, MARS, MME, MPZ, MTMR2, NDRG1, NEFH, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8 , (...) View the complete list with 14 more genes Panel complete gene list SPTLC1, YARS, PRX, BSCL2, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, DCTN1, MED25, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GARS, GJB1, DNAJB2, HSPB1, IGHMBP2, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, RAB7A Specificity 3 % Genes 100 %
Charcot Marie Tooth Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1 , (...) View the complete list with 14 more genes Panel complete gene list SPTLC1, TTR, PRX, GDAP1, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, SBF2, LRSAM1, MED25, SH3TC2, DYNC1H1, HSPB8, EGR2, GARS, GJB1, DNAJB2, HSPB1, IGHMBP2, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 3 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...) View the complete list with 58 more genes Panel complete gene list SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4, MFN2, BICD2, TRPV4, TDP1, FGD4, AARS, GNB4, SBF2, MYH14, DHTKD1, INF2, LRSAM1, LAS1L, REEP1, RETREG1, DCTN1, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, EGR2, FBLN5, GAN, GARS, GJB1, SETX, HARS, HEXA, HINT1, HK1, HOXD10, DNAJB2, HSPB1, HSPB3, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MARS, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, ATP7A, AIFM1, PDK3, KIF1A, PMP22, BAG3, PRNP, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth disease type 2B2 (CMT2B2 sequence analysis of MED25 gene). By CGC Genetics (Portugal). MED25 Specificity 100 % Genes 100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes). By CGC Genetics (Portugal). SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...) View the complete list with 54 more genes Panel complete gene list SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, ATL3, DCAF8, CTDP1, LRSAM1, REEP1, RETREG1, C12orf65, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, DNMT1, HSPB8, TYMP, EGR2, GAN, GARS, GJB1, HINT1, HK1, HOXD10, HSPB1, IGHMBP2, ELP1, KARS, KIF5A, LMNA, MPZ, SEPT9, MTMR2, NDRG1, NEFL, NGF, NTRK1, AIFM1, PDK3, KIF1A, PHYH, PMP22, PRPS1, RAB7A Specificity 2 % Genes 100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes). By CGC Genetics (Portugal). SBF1, YARS, PRX, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, C12orf65, MED25 , (...) View the complete list with 23 more genes Panel complete gene list SBF1, YARS, PRX, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2, COX6A1, DHTKD1, INF2, LRSAM1, C12orf65, MED25, PLEKHG5, SH3TC2, DYNC1H1, DNM2, HSPB8, EGR2, GARS, GJB1, HK1, HOXD10, HSPB1, IGHMBP2, KARS, LMNA, MPZ, MTMR2, NDRG1, NEFL, AIFM1, PDK3, PMP22, PRPS1, RAB7A Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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