MCID: CHR608
MIFTS: 29

Charcot-Marie-Tooth Disease, Axonal, Type 2p

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2p

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2p 57 73
Charcot-Marie-Tooth Disease Type 2p 12 53 59 29 6
Cmt2p 57 12 53 59 75
Charcot-Marie-Tooth Disease Axonal Type 2p 12 75 15
Charcot-Marie-Toothe Disease, Axonal, Type 2p 53 13
Charcot-Marie-Tooth Neuropathy, Type 2p 57 53
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly; Cmt2g, Formerly 57
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly 57
Charcot-Marie-Tooth Neuropathy Axonal Type 2p 75
Charcot-Marie-Tooth Disease, Axonal, Type 2g 73
Charcot-Marie-Tooth Disease, Axonal Type 2g 75
Charcot-Marie-Tooth Neuropathy Type 2p 12
Charcot-Marie-Tooth Disease, Type 2p 40
Charcot-Marie-Tooth Disease 2p 75
Cmt2g, Formerly 57
Cmt2g 75

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 2p
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
incomplete penetrance
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
slowly progressive disorder
some patients may become wheelchair-bound
peak age of onset in second decade (range childhood to 76 years)
onset usually in adulthood
both homozygous and heterozygous mutations in lrsam1 have been reported


HPO:

32
charcot-marie-tooth disease, axonal, type 2p:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614436
Disease Ontology 12 DOID:0110169
ICD10 33 G60.0
Orphanet 59 ORPHA300319
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2p

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2P: An axonal 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2p, also known as charcot-marie-tooth disease type 2p, is related to charcot-marie-tooth disease and charcot-marie-tooth disease type 2g, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2p is LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1). Related phenotypes are peripheral axonal degeneration and hyporeflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.

NIH Rare Diseases : 53 Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals). It may be inherited in an autossomal dominant or autossomal recessive pattern.

Description from OMIM: 614436

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 27.6 COX6A1 DNAJB2 LRSAM1 TRIM2
2 charcot-marie-tooth disease type 2g 11.8
3 autosomal dominant intermediate charcot-marie-tooth disease type b 11.5
4 autosomal dominant charcot-marie-tooth disease type 2g 10.9
5 tooth disease 9.9
6 spastic paraplegia 56, autosomal recessive 9.4 COX6A1 TRIM2
7 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 TRIM2
8 spastic paraplegia 46, autosomal recessive 8.8 COX6A1 SPG21 TRIM2
9 charcot-marie-tooth disease type 2a2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2b2 8.3 COX6A1 DNAJB2 SPG21 TRIM2
11 amyotrophic lateral sclerosis type 5 8.2 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2b1 8.2 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2h 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, recessive intermediate d 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
15 spastic paraplegia 55, autosomal recessive 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
16 charcot-marie-tooth disease, axonal, type 2r 7.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease, axonal, type 2t 7.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
18 charcot-marie-tooth disease, axonal, type 2e 7.2 C12orf65 COX6A1 DNAJB2 LRSAM1 SPG21 TRIM2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
fasciculations
hyporeflexia
steppage gait
sural nerve biopsy shows axonal degeneration
more
Muscle Soft Tissue:
muscle cramping
distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)
distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

Skeletal:
foot deformities
pes cavus (in some patients)
hammertoes (in some patients)


Clinical features from OMIM:

614436

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 peripheral axonal degeneration 32 HP:0000764
2 hyporeflexia 32 HP:0001265
3 areflexia 32 HP:0001284
4 pes cavus 32 HP:0001761
5 hammertoe 32 occasional (7.5%) HP:0001765
6 fasciculations 32 HP:0002380
7 distal muscle weakness 32 HP:0002460
8 distal sensory impairment 32 HP:0002936
9 steppage gait 32 HP:0003376
10 distal amyotrophy 32 HP:0003693
11 impaired distal vibration sensation 32 HP:0006886
12 foot dorsiflexor weakness 32 HP:0009027

UMLS symptoms related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:


muscular fasciculation, muscle cramp

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2p 29 LRSAM1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

# Title Authors Year
1
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. ( 28335037 )
2017

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

75
# Symbol AA change Variation ID SNP ID
1 LRSAM1 p.Cys694Arg VAR_077460 rs759312530

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

6
(show top 50) (show all 191)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRSAM1 NM_138361.5(LRSAM1): c.1914G> A (p.Glu638=) single nucleotide variant Pathogenic rs387907032 GRCh37 Chromosome 9, 130263290: 130263290
2 LRSAM1 NM_138361.5(LRSAM1): c.1914G> A (p.Glu638=) single nucleotide variant Pathogenic rs387907032 GRCh38 Chromosome 9, 127501011: 127501011
3 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
4 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh37 Chromosome 9, 130265127: 130265128
5 LRSAM1 LRSAM1, IVS24AS, G-A, -1 single nucleotide variant Pathogenic
6 LRSAM1 NM_138361.5(LRSAM1): c.268G> A (p.Asp90Asn) single nucleotide variant Likely benign rs117692127 GRCh37 Chromosome 9, 130221297: 130221297
7 LRSAM1 NM_138361.5(LRSAM1): c.268G> A (p.Asp90Asn) single nucleotide variant Likely benign rs117692127 GRCh38 Chromosome 9, 127459018: 127459018
8 LRSAM1 NM_138361.5(LRSAM1): c.1877T> G (p.Val626Gly) single nucleotide variant Uncertain significance rs574202204 GRCh38 Chromosome 9, 127497299: 127497299
9 LRSAM1 NM_138361.5(LRSAM1): c.1877T> G (p.Val626Gly) single nucleotide variant Uncertain significance rs574202204 GRCh37 Chromosome 9, 130259578: 130259578
10 LRSAM1 NM_138361.5(LRSAM1): c.965A> G (p.Gln322Arg) single nucleotide variant Benign/Likely benign rs56380300 GRCh37 Chromosome 9, 130242179: 130242179
11 LRSAM1 NM_138361.5(LRSAM1): c.965A> G (p.Gln322Arg) single nucleotide variant Benign/Likely benign rs56380300 GRCh38 Chromosome 9, 127479900: 127479900
12 LRSAM1 NM_138361.5(LRSAM1): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs138226428 GRCh37 Chromosome 9, 130249974: 130249974
13 LRSAM1 NM_138361.5(LRSAM1): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs138226428 GRCh38 Chromosome 9, 127487695: 127487695
14 LRSAM1 NM_138361.5(LRSAM1): c.1830+6C> T single nucleotide variant Benign/Likely benign rs75171318 GRCh37 Chromosome 9, 130258380: 130258380
15 LRSAM1 NM_138361.5(LRSAM1): c.1830+6C> T single nucleotide variant Benign/Likely benign rs75171318 GRCh38 Chromosome 9, 127496101: 127496101
16 LRSAM1 NM_138361.5(LRSAM1): c.1930G> T (p.Gly644Cys) single nucleotide variant Uncertain significance rs201284198 GRCh37 Chromosome 9, 130263306: 130263306
17 LRSAM1 NM_138361.5(LRSAM1): c.1930G> T (p.Gly644Cys) single nucleotide variant Uncertain significance rs201284198 GRCh38 Chromosome 9, 127501027: 127501027
18 LRSAM1 NM_001005373.3(LRSAM1): c.2068T> C (p.Cys690Arg) single nucleotide variant Likely pathogenic rs879253755 GRCh37 Chromosome 9, 130265074: 130265074
19 LRSAM1 NM_001005373.3(LRSAM1): c.2068T> C (p.Cys690Arg) single nucleotide variant Likely pathogenic rs879253755 GRCh38 Chromosome 9, 127502795: 127502795
20 LRSAM1 NM_138361.5(LRSAM1): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs570688892 GRCh37 Chromosome 9, 130219604: 130219604
21 LRSAM1 NM_138361.5(LRSAM1): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs570688892 GRCh38 Chromosome 9, 127457325: 127457325
22 LRSAM1 NM_138361.5(LRSAM1): c.586G> A (p.Gly196Ser) single nucleotide variant Uncertain significance rs148059394 GRCh38 Chromosome 9, 127467797: 127467797
23 LRSAM1 NM_138361.5(LRSAM1): c.586G> A (p.Gly196Ser) single nucleotide variant Uncertain significance rs148059394 GRCh37 Chromosome 9, 130230076: 130230076
24 LRSAM1 NM_138361.5(LRSAM1): c.1975G> A (p.Val659Met) single nucleotide variant Benign/Likely benign rs140786088 GRCh38 Chromosome 9, 127501072: 127501072
25 LRSAM1 NM_138361.5(LRSAM1): c.1975G> A (p.Val659Met) single nucleotide variant Benign/Likely benign rs140786088 GRCh37 Chromosome 9, 130263351: 130263351
26 LRSAM1 NM_138361.5(LRSAM1): c.2081G> A (p.Cys694Tyr) single nucleotide variant Pathogenic rs886041051 GRCh37 Chromosome 9, 130265087: 130265087
27 LRSAM1 NM_138361.5(LRSAM1): c.2081G> A (p.Cys694Tyr) single nucleotide variant Pathogenic rs886041051 GRCh38 Chromosome 9, 127502808: 127502808
28 LRSAM1 NM_138361.5(LRSAM1): c.249C> T (p.Ile83=) single nucleotide variant Benign rs2243906 GRCh37 Chromosome 9, 130219669: 130219669
29 LRSAM1 NM_138361.5(LRSAM1): c.249C> T (p.Ile83=) single nucleotide variant Benign rs2243906 GRCh38 Chromosome 9, 127457390: 127457390
30 LRSAM1 NM_138361.5(LRSAM1): c.952A> G (p.Asn318Asp) single nucleotide variant Benign rs1539567 GRCh37 Chromosome 9, 130242166: 130242166
31 LRSAM1 NM_138361.5(LRSAM1): c.952A> G (p.Asn318Asp) single nucleotide variant Benign rs1539567 GRCh38 Chromosome 9, 127479887: 127479887
32 LRSAM1 NM_138361.5(LRSAM1): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs150344223 GRCh37 Chromosome 9, 130248054: 130248054
33 LRSAM1 NM_138361.5(LRSAM1): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs150344223 GRCh38 Chromosome 9, 127485775: 127485775
34 LRSAM1 NM_138361.5(LRSAM1): c.904-9C> T single nucleotide variant Benign rs1539568 GRCh37 Chromosome 9, 130242109: 130242109
35 LRSAM1 NM_138361.5(LRSAM1): c.904-9C> T single nucleotide variant Benign rs1539568 GRCh38 Chromosome 9, 127479830: 127479830
36 LRSAM1 NM_138361.5(LRSAM1): c.1504-5C> G single nucleotide variant Uncertain significance rs377190920 GRCh37 Chromosome 9, 130255076: 130255076
37 LRSAM1 NM_138361.5(LRSAM1): c.1504-5C> G single nucleotide variant Uncertain significance rs377190920 GRCh38 Chromosome 9, 127492797: 127492797
38 LRSAM1 NM_138361.5(LRSAM1): c.1912+5A> C single nucleotide variant Benign rs2248822 GRCh37 Chromosome 9, 130259618: 130259618
39 LRSAM1 NM_138361.5(LRSAM1): c.1912+5A> C single nucleotide variant Benign rs2248822 GRCh38 Chromosome 9, 127497339: 127497339
40 LRSAM1 NM_138361.5(LRSAM1): c.284C> T (p.Ala95Val) single nucleotide variant Conflicting interpretations of pathogenicity rs570248730 GRCh37 Chromosome 9, 130221313: 130221313
41 LRSAM1 NM_138361.5(LRSAM1): c.284C> T (p.Ala95Val) single nucleotide variant Conflicting interpretations of pathogenicity rs570248730 GRCh38 Chromosome 9, 127459034: 127459034
42 LRSAM1 NM_138361.5(LRSAM1): c.548C> T (p.Ser183Leu) single nucleotide variant Benign/Likely benign rs75690855 GRCh37 Chromosome 9, 130230038: 130230038
43 LRSAM1 NM_138361.5(LRSAM1): c.548C> T (p.Ser183Leu) single nucleotide variant Benign/Likely benign rs75690855 GRCh38 Chromosome 9, 127467759: 127467759
44 LRSAM1 NM_138361.5(LRSAM1): c.751-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs367823841 GRCh37 Chromosome 9, 130241205: 130241205
45 LRSAM1 NM_138361.5(LRSAM1): c.751-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs367823841 GRCh38 Chromosome 9, 127478926: 127478926
46 LRSAM1 NM_138361.5(LRSAM1): c.1044-9T> C single nucleotide variant Benign/Likely benign rs59501881 GRCh37 Chromosome 9, 130243453: 130243453
47 LRSAM1 NM_138361.5(LRSAM1): c.1044-9T> C single nucleotide variant Benign/Likely benign rs59501881 GRCh38 Chromosome 9, 127481174: 127481174
48 LRSAM1 NM_138361.5(LRSAM1): c.1225C> G (p.Gln409Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149540339 GRCh37 Chromosome 9, 130248080: 130248080
49 LRSAM1 NM_138361.5(LRSAM1): c.1225C> G (p.Gln409Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149540339 GRCh38 Chromosome 9, 127485801: 127485801
50 LRSAM1 NM_138361.5(LRSAM1): c.1368G> A (p.Ala456=) single nucleotide variant Benign/Likely benign rs34426300 GRCh37 Chromosome 9, 130251743: 130251743

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2p

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Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2p

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