CMTRIC
MCID: CHR480
MIFTS: 28

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

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 39 70
Ri-Cmtc 57 12 72
Cmtric 57 12 72
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C 12 58
Ri-Cmt Type C 12 58
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C; Ri-Cmtc 57
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C 72
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C 57
Charcot-Marie-Tooth Neuropathy Recessive Intermediate C 72
Charcot-Marie-Tooth Disease Recessive Intermediate C 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive intermediate charcot-marie-tooth disease type c
Inheritance: Autosomal recessive; Age of onset: Adult,All ages,Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
charcot-marie-tooth disease, recessive intermediate c:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110198
OMIM® 57 615376
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA369867
UMLS 70 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) (Updated 20-May-2021)

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). Affiliated tissues include eye, and related phenotypes are areflexia and pes cavus

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 : 72 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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 decreased motor nerve conduction velocity 31 HP:0003431
4 hammertoe 31 HP:0001765
5 mildly elevated creatine kinase 31 HP:0008180
6 distal muscle weakness 31 HP:0002460
7 distal sensory impairment 31 HP:0002936
8 decreased number of large peripheral myelinated nerve fibers 31 HP:0003387

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
Laboratory Abnormalities:
mildly increased serum creatine kinase

Skeletal Feet:
pes cavus
foot deformities
hammertoes

Muscle Soft Tissue:
neurogenic atrophy seen on muscle biopsy

Clinical features from OMIM®:

615376 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Recessive Intermediate C:

40
Eye

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

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

# Title Authors PMID Year
1
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 57 6
23777631 2013
2
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. 6 57
23844677 2013
3
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 6
17564964 2007

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

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

6 (show top 50) (show all 369)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEKHG5 NM_020631.5(PLEKHG5):c.38del (p.Pro13fs) Deletion Pathogenic 60777 rs397515454 GRCh37: 1:6537594-6537594
GRCh38: 1:6477534-6477534
2 PLEKHG5 NM_020631.5(PLEKHG5):c.2458G>C (p.Gly820Arg) SNV Pathogenic 60779 rs202191898 GRCh37: 1:6528438-6528438
GRCh38: 1:6468378-6468378
3 PLEKHG5 NC_000001.11:g.(?_6467553)_(6477668_?)del Deletion Pathogenic 832446 GRCh37: 1:6527613-6537728
GRCh38:
4 PLEKHG5 NC_000001.11:g.(?_6474003)_(6477668_?)del Deletion Pathogenic 832925 GRCh37: 1:6534063-6537728
GRCh38:
5 PLEKHG5 NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs) Deletion Pathogenic 663141 rs1569875704 GRCh37: 1:6534121-6534211
GRCh38: 1:6474061-6474151
6 PLEKHG5 NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) Deletion Pathogenic 950561 GRCh37: 1:6530898-6530899
GRCh38: 1:6470838-6470839
7 PLEKHG5 NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) SNV Pathogenic 566096 rs770593694 GRCh37: 1:6528354-6528354
GRCh38: 1:6468294-6468294
8 PLEKHG5 NM_020631.5(PLEKHG5):c.912_918dup (p.Glu307Ter) Duplication Pathogenic 60778 rs397515455 GRCh37: 1:6533111-6533112
GRCh38: 1:6473051-6473052
9 PLEKHG5 NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) Microsatellite Pathogenic 468906 rs759212541 GRCh37: 1:6528529-6528530
GRCh38: 1:6468469-6468470
10 PLEKHG5 NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) Microsatellite Pathogenic 963691 GRCh37: 1:6531682-6531683
GRCh38: 1:6471622-6471623
11 PLEKHG5 NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) Deletion Pathogenic 835966 GRCh37: 1:6532665-6532665
GRCh38: 1:6472605-6472605
12 PLEKHG5 NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) Deletion Pathogenic 845778 GRCh37: 1:6533326-6533327
GRCh38: 1:6473266-6473267
13 PLEKHG5 NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) Deletion Pathogenic 855821 GRCh37: 1:6530884-6530885
GRCh38: 1:6470824-6470825
14 PLEKHG5 NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) Deletion Pathogenic 859523 GRCh37: 1:6530308-6530308
GRCh38: 1:6470248-6470248
15 PLEKHG5 NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) SNV Pathogenic 60780 rs397515456 GRCh37: 1:6529456-6529456
GRCh38: 1:6469396-6469396
16 PLEKHG5 NM_020631.6(PLEKHG5):c.1219G>T (p.Glu407Ter) SNV Pathogenic 998216 GRCh37: 1:6531610-6531610
GRCh38: 1:6471550-6471550
17 PLEKHG5 NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) SNV Pathogenic 489025 rs772217003 GRCh37: 1:6529298-6529298
GRCh38: 1:6469238-6469238
18 PLEKHG5 NM_020631.5(PLEKHG5):c.440-2A>G SNV Pathogenic 423836 rs144750655 GRCh37: 1:6534226-6534226
GRCh38: 1:6474166-6474166
19 PLEKHG5 NM_020631.6(PLEKHG5):c.2940_2941del (p.His980fs) Microsatellite Pathogenic 1028664 GRCh37: 1:6527955-6527956
GRCh38: 1:6467895-6467896
20 PLEKHG5 NM_020631.5(PLEKHG5):c.440-2A>G SNV Likely pathogenic 423836 rs144750655 GRCh37: 1:6534226-6534226
GRCh38: 1:6474166-6474166
21 PLEKHG5 NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) SNV Uncertain significance 297964 rs373198302 GRCh37: 1:6533165-6533165
GRCh38: 1:6473105-6473105
22 PLEKHG5 NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) SNV Uncertain significance 962105 GRCh37: 1:6534539-6534539
GRCh38: 1:6474479-6474479
23 PLEKHG5 NM_020631.6(PLEKHG5):c.1393-16C>G SNV Uncertain significance 1028662 GRCh37: 1:6530960-6530960
GRCh38: 1:6470900-6470900
24 PLEKHG5 NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) SNV Uncertain significance 468907 rs111724922 GRCh37: 1:6528506-6528506
GRCh38: 1:6468446-6468446
25 PLEKHG5 NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg) SNV Uncertain significance 998844 GRCh37: 1:6528078-6528078
GRCh38: 1:6468018-6468018
26 PLEKHG5 NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr) SNV Uncertain significance 1001153 GRCh37: 1:6528095-6528095
GRCh38: 1:6468035-6468035
27 PLEKHG5 NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val) SNV Uncertain significance 1001806 GRCh37: 1:6533146-6533146
GRCh38: 1:6473086-6473086
28 PLEKHG5 NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu) SNV Uncertain significance 1002241 GRCh37: 1:6527981-6527981
GRCh38: 1:6467921-6467921
29 PLEKHG5 NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly) SNV Uncertain significance 1003286 GRCh37: 1:6531646-6531646
GRCh38: 1:6471586-6471586
30 PLEKHG5 NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) SNV Uncertain significance 1003864 GRCh37: 1:6535577-6535577
GRCh38: 1:6475517-6475517
31 PLEKHG5 NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) SNV Uncertain significance 1004097 GRCh37: 1:6533204-6533204
GRCh38: 1:6473144-6473144
32 PLEKHG5 NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) SNV Uncertain significance 1005751 GRCh37: 1:6532613-6532613
GRCh38: 1:6472553-6472553
33 PLEKHG5 NM_020631.5(PLEKHG5):c.1576A>G (p.Asn526Asp) SNV Uncertain significance 297955 rs774755047 GRCh37: 1:6530670-6530670
GRCh38: 1:6470610-6470610
34 PLEKHG5 NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys) SNV Uncertain significance 1010240 GRCh37: 1:6533111-6533111
GRCh38: 1:6473051-6473051
35 PLEKHG5 NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) SNV Uncertain significance 1010545 GRCh37: 1:6534583-6534583
GRCh38: 1:6474523-6474523
36 PLEKHG5 NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) SNV Uncertain significance 245720 rs527341275 GRCh37: 1:6534123-6534123
GRCh38: 1:6474063-6474063
37 PLEKHG5 NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) SNV Uncertain significance 234903 rs746862312 GRCh37: 1:6533059-6533059
GRCh38: 1:6472999-6472999
38 PLEKHG5 NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) SNV Uncertain significance 451518 rs762368406 GRCh37: 1:6531867-6531867
GRCh38: 1:6471807-6471807
39 PLEKHG5 NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) SNV Uncertain significance 245734 rs879253921 GRCh37: 1:6533313-6533313
GRCh38: 1:6473253-6473253
40 PLEKHG5 NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) SNV Uncertain significance 493017 rs761272621 GRCh37: 1:6529220-6529220
GRCh38: 1:6469160-6469160
41 PLEKHG5 NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) Deletion Uncertain significance 623667 rs1557739505 GRCh37: 1:6530634-6530648
GRCh38: 1:6470574-6470588
42 PLEKHG5 NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) SNV Uncertain significance 1035434 GRCh37: 1:6531598-6531598
GRCh38: 1:6471538-6471538
43 PLEKHG5 NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro) SNV Uncertain significance 1035762 GRCh37: 1:6529489-6529489
GRCh38: 1:6469429-6469429
44 PLEKHG5 NM_020631.6(PLEKHG5):c.1080+5G>T SNV Uncertain significance 1035867 GRCh37: 1:6532582-6532582
GRCh38: 1:6472522-6472522
45 PLEKHG5 NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del) Microsatellite Uncertain significance 1036780 GRCh37: 1:6534092-6534094
GRCh38: 1:6474032-6474034
46 PLEKHG5 NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp) SNV Uncertain significance 1037348 GRCh37: 1:6533373-6533373
GRCh38: 1:6473313-6473313
47 PLEKHG5 NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) SNV Uncertain significance 1038197 GRCh37: 1:6529607-6529607
GRCh38: 1:6469547-6469547
48 PLEKHG5 NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala) SNV Uncertain significance 1038835 GRCh37: 1:6529510-6529510
GRCh38: 1:6469450-6469450
49 PLEKHG5 NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) SNV Uncertain significance 426342 rs774845320 GRCh37: 1:6533451-6533451
GRCh38: 1:6473391-6473391
50 PLEKHG5 NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro) SNV Uncertain significance 1040144 GRCh37: 1:6531684-6531684
GRCh38: 1:6471624-6471624

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

72
# Symbol AA change Variation ID SNP ID
1 PLEKHG5 p.Thr719Met VAR_070217 rs397515456
2 PLEKHG5 p.Gly876Arg VAR_070218 rs202191898

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

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Recessive Intermediate C.

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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71 UMLS via Orphanet
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