CMTRIC
MCID: CHR480
MIFTS: 23

Charcot-Marie-Tooth Disease, Recessive Intermediate C (CMTRIC)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Recessive Intermediate C

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Recessive Intermediate C:

Name: Charcot-Marie-Tooth Disease, Recessive Intermediate C 57 29 6 40 73
Ri-Cmtc 57 12 75
Cmtric 57 12 75
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C 12 59
Ri-Cmt Type C 12 59
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C; Ri-Cmtc 57
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C 75
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C 57
Charcot-Marie-Tooth Neuropathy Recessive Intermediate C 75
Charcot-Marie-Tooth Disease Recessive Intermediate C 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive intermediate charcot-marie-tooth disease type c
Inheritance: Autosomal recessive; Age of onset: Adult,All ages,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range childhood to adult)


HPO:

32
charcot-marie-tooth disease, recessive intermediate c:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615376
Disease Ontology 12 DOID:0110198
ICD10 33 G60.0
Orphanet 59 ORPHA369867
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607
UMLS 73 C3809309

Summaries for Charcot-Marie-Tooth Disease, Recessive Intermediate C

OMIM : 57 CMTRIC is an autosomal recessive peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340). (615376)

MalaCards based summary : Charcot-Marie-Tooth Disease, Recessive Intermediate C, is also known as ri-cmtc. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate C is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Related phenotypes are pes cavus and decreased motor nerve conduction velocity

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease, recessive, intermediate type, C: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

Related Diseases for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammertoes

Laboratory Abnormalities:
mildly increased serum creatine kinase

Neurologic Peripheral Nervous System:
areflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
lower limbs more severely affected than upper limbs
more
Muscle Soft Tissue:
neurogenic atrophy seen on muscle biopsy


Clinical features from OMIM:

615376

Human phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate C:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 decreased motor nerve conduction velocity 32 HP:0003431
3 areflexia 32 HP:0001284
4 mildly elevated creatine phosphokinase 32 HP:0008180
5 hammertoe 32 HP:0001765
6 distal muscle weakness 32 HP:0002460
7 distal sensory impairment 32 HP:0002936
8 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Genetic Tests for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Genetic tests related to Charcot-Marie-Tooth Disease, Recessive Intermediate C:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Recessive Intermediate C 29 PLEKHG5

Anatomical Context for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Publications for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Variations for Charcot-Marie-Tooth Disease, Recessive Intermediate C

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate C:

75
# Symbol AA change Variation ID SNP ID
1 PLEKHG5 p.Thr719Met VAR_070217 rs397515456
2 PLEKHG5 p.Gly876Arg VAR_070218 rs202191898

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate C:

6 (show top 50) (show all 329)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHG5 NM_020631.4(PLEKHG5): c.38delC (p.Pro13Hisfs) deletion Pathogenic rs397515454 GRCh37 Chromosome 1, 6537594: 6537594
2 PLEKHG5 NM_020631.4(PLEKHG5): c.38delC (p.Pro13Hisfs) deletion Pathogenic rs397515454 GRCh38 Chromosome 1, 6477534: 6477534
3 PLEKHG5 NM_020631.4(PLEKHG5): c.912_918dupTGAAGAC (p.Glu307Terfs) duplication Pathogenic rs397515455 GRCh37 Chromosome 1, 6533112: 6533118
4 PLEKHG5 NM_020631.4(PLEKHG5): c.912_918dupTGAAGAC (p.Glu307Terfs) duplication Pathogenic rs397515455 GRCh38 Chromosome 1, 6473052: 6473058
5 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> C (p.Gly820Arg) single nucleotide variant Pathogenic rs202191898 GRCh37 Chromosome 1, 6528438: 6528438
6 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> C (p.Gly820Arg) single nucleotide variant Pathogenic rs202191898 GRCh38 Chromosome 1, 6468378: 6468378
7 PLEKHG5 NM_020631.4(PLEKHG5): c.1988C> T (p.Thr663Met) single nucleotide variant Pathogenic rs397515456 GRCh37 Chromosome 1, 6529456: 6529456
8 PLEKHG5 NM_020631.4(PLEKHG5): c.1988C> T (p.Thr663Met) single nucleotide variant Pathogenic rs397515456 GRCh38 Chromosome 1, 6469396: 6469396
9 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 GRCh37 Chromosome 1, 6530355: 6530355
10 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 GRCh38 Chromosome 1, 6470295: 6470295
11 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 NCBI36 Chromosome 1, 6452942: 6452942
12 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh37 Chromosome 1, 6530630: 6530630
13 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh38 Chromosome 1, 6470570: 6470570
14 PLEKHG5 NM_020631.4(PLEKHG5): c.1729G> A (p.Ala577Thr) single nucleotide variant Uncertain significance rs143545780 GRCh37 Chromosome 1, 6530367: 6530367
15 PLEKHG5 NM_020631.4(PLEKHG5): c.1729G> A (p.Ala577Thr) single nucleotide variant Uncertain significance rs143545780 GRCh38 Chromosome 1, 6470307: 6470307
16 PLEKHG5 NM_020631.4(PLEKHG5): c.1932T> C (p.Pro644=) single nucleotide variant Conflicting interpretations of pathogenicity rs150807400 GRCh37 Chromosome 1, 6529605: 6529605
17 PLEKHG5 NM_020631.4(PLEKHG5): c.1932T> C (p.Pro644=) single nucleotide variant Conflicting interpretations of pathogenicity rs150807400 GRCh38 Chromosome 1, 6469545: 6469545
18 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168delGGAGGA (p.Glu722_Glu723del) deletion Benign rs748573566 GRCh37 Chromosome 1, 6529183: 6529188
19 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168delGGAGGA (p.Glu722_Glu723del) deletion Benign rs748573566 GRCh38 Chromosome 1, 6469123: 6469128
20 PLEKHG5 NM_020631.4(PLEKHG5): c.2867G> A (p.Arg956Lys) single nucleotide variant Uncertain significance rs773530688 GRCh37 Chromosome 1, 6528029: 6528029
21 PLEKHG5 NM_020631.4(PLEKHG5): c.2867G> A (p.Arg956Lys) single nucleotide variant Uncertain significance rs773530688 GRCh38 Chromosome 1, 6467969: 6467969
22 PLEKHG5 NM_020631.4(PLEKHG5): c.2720T> C (p.Leu907Pro) single nucleotide variant Uncertain significance rs764378556 GRCh37 Chromosome 1, 6528176: 6528176
23 PLEKHG5 NM_020631.4(PLEKHG5): c.2720T> C (p.Leu907Pro) single nucleotide variant Uncertain significance rs764378556 GRCh38 Chromosome 1, 6468116: 6468116
24 PLEKHG5 NM_020631.4(PLEKHG5): c.2564C> T (p.Ser855Leu) single nucleotide variant Uncertain significance rs768995193 GRCh37 Chromosome 1, 6528332: 6528332
25 PLEKHG5 NM_020631.4(PLEKHG5): c.2564C> T (p.Ser855Leu) single nucleotide variant Uncertain significance rs768995193 GRCh38 Chromosome 1, 6468272: 6468272
26 PLEKHG5 NM_020631.4(PLEKHG5): c.73C> T (p.Arg25Trp) single nucleotide variant Uncertain significance rs377503203 GRCh37 Chromosome 1, 6536067: 6536067
27 PLEKHG5 NM_020631.4(PLEKHG5): c.73C> T (p.Arg25Trp) single nucleotide variant Uncertain significance rs377503203 GRCh38 Chromosome 1, 6476007: 6476007
28 PLEKHG5 NM_020631.4(PLEKHG5): c.518G> A (p.Arg173Gln) single nucleotide variant Uncertain significance rs142378760 GRCh37 Chromosome 1, 6534146: 6534146
29 PLEKHG5 NM_020631.4(PLEKHG5): c.518G> A (p.Arg173Gln) single nucleotide variant Uncertain significance rs142378760 GRCh38 Chromosome 1, 6474086: 6474086
30 PLEKHG5 NM_020631.4(PLEKHG5): c.719A> G (p.Asp240Gly) single nucleotide variant Uncertain significance rs199794578 GRCh37 Chromosome 1, 6533387: 6533387
31 PLEKHG5 NM_020631.4(PLEKHG5): c.719A> G (p.Asp240Gly) single nucleotide variant Uncertain significance rs199794578 GRCh38 Chromosome 1, 6473327: 6473327
32 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh37 Chromosome 1, 6533415: 6533415
33 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh38 Chromosome 1, 6473355: 6473355
34 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> A (p.Gly820Ser) single nucleotide variant Benign/Likely benign rs202191898 GRCh38 Chromosome 1, 6468378: 6468378
35 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> A (p.Gly820Ser) single nucleotide variant Benign/Likely benign rs202191898 GRCh37 Chromosome 1, 6528438: 6528438
36 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh37 Chromosome 1, 6528302: 6528302
37 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh38 Chromosome 1, 6468242: 6468242
38 PLEKHG5 NM_020631.4(PLEKHG5): c.2525G> A (p.Arg842Gln) single nucleotide variant Uncertain significance rs149682441 GRCh37 Chromosome 1, 6528371: 6528371
39 PLEKHG5 NM_020631.4(PLEKHG5): c.2525G> A (p.Arg842Gln) single nucleotide variant Uncertain significance rs149682441 GRCh38 Chromosome 1, 6468311: 6468311
40 PLEKHG5 NM_020631.4(PLEKHG5): c.1738G> A (p.Glu580Lys) single nucleotide variant Uncertain significance rs760122001 GRCh37 Chromosome 1, 6530358: 6530358
41 PLEKHG5 NM_020631.4(PLEKHG5): c.1738G> A (p.Glu580Lys) single nucleotide variant Uncertain significance rs760122001 GRCh38 Chromosome 1, 6470298: 6470298
42 PLEKHG5 NM_020631.4(PLEKHG5): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance rs868161574 GRCh38 Chromosome 1, 6470770: 6470770
43 PLEKHG5 NM_020631.4(PLEKHG5): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance rs868161574 GRCh37 Chromosome 1, 6530830: 6530830
44 PLEKHG5 NM_020631.4(PLEKHG5): c.994C> T (p.Arg332Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140202670 GRCh37 Chromosome 1, 6532673: 6532673
45 PLEKHG5 NM_020631.4(PLEKHG5): c.994C> T (p.Arg332Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140202670 GRCh38 Chromosome 1, 6472613: 6472613
46 PLEKHG5 NM_020631.4(PLEKHG5): c.638C> T (p.Ala213Val) single nucleotide variant Uncertain significance rs367543633 GRCh37 Chromosome 1, 6533468: 6533468
47 PLEKHG5 NM_020631.4(PLEKHG5): c.638C> T (p.Ala213Val) single nucleotide variant Uncertain significance rs367543633 GRCh38 Chromosome 1, 6473408: 6473408
48 PLEKHG5 NM_020631.4(PLEKHG5): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance rs527341275 GRCh37 Chromosome 1, 6534123: 6534123
49 PLEKHG5 NM_020631.4(PLEKHG5): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance rs527341275 GRCh38 Chromosome 1, 6474063: 6474063
50 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh37 Chromosome 1, 6534182: 6534182

Expression for Charcot-Marie-Tooth Disease, Recessive Intermediate C

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Pathways for Charcot-Marie-Tooth Disease, Recessive Intermediate C

GO Terms for Charcot-Marie-Tooth Disease, Recessive Intermediate C

Sources for Charcot-Marie-Tooth Disease, Recessive Intermediate C

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