CMT2P
MCID: CHR608
MIFTS: 47

Charcot-Marie-Tooth Disease, Axonal, Type 2p (CMT2P)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 20 70
Charcot-Marie-Tooth Disease Type 2p 12 20 58 29 6
Cmt2p 57 12 20 58 72
Charcot-Marie-Tooth Disease Axonal Type 2p 12 72 15
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 20 6
Charcot-Marie-Toothe Disease, Axonal, Type 2p 20 13
Charcot-Marie-Tooth Neuropathy, Type 2p 57 20
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly; Cmt2g, Formerly 57
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 20
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 20
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly 57
Charcot-Marie-Tooth Disease, Dominant Intermediate B 70
Charcot-Marie-Tooth Neuropathy Axonal Type 2p 72
Charcot-Marie-Tooth Disease, Axonal, Type 2g 70
Charcot-Marie-Tooth Disease, Axonal Type 2g 72
Charcot-Marie-Tooth Neuropathy Type 2p 12
Charcot-Marie-Tooth Disease, Type 2p 39
Charcot-Marie-Tooth Disease 2p 72
Cmt2g, Formerly 57
Di-Cmtb 20
Cmtdib 20
Cmt2g 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 2p
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
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

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
charcot-marie-tooth disease, axonal, type 2p:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course slow progression incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110169
OMIM® 57 614436
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA300319
UMLS 70 C1837805 C1847902 C3280797

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

GARD : 20 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.

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, dominant intermediate b and charcot-marie-tooth disease, dominant intermediate a, 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). Affiliated tissues include skeletal muscle and brain, and related phenotypes are hammertoe and toe walking

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.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 614436 PS118220

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 Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate b 32.2 LITAF GDAP1 DNM2
2 charcot-marie-tooth disease, dominant intermediate a 31.9 GDAP1 DNM2
3 polyneuropathy 29.9 LRSAM1 LITAF GDAP1
4 axonal neuropathy 29.2 TRIM2 MTRFR GDAP1 GAN
5 tooth disease 27.9 TSG101 TRIM2 LRSAM1 LITAF GDAP1 GAN
6 neuropathy 27.3 TRIM2 SLC12A6 PNPLA7 MTRFR LITAF GDAP1
7 charcot-marie-tooth disease 27.3 TSG101 TRIM2 SLC12A6 LRSAM1 LITAF GDAP1
8 cataract 10.4
9 charcot-marie-tooth hereditary neuropathy 10.4
10 hereditary neuropathies 10.4
11 mental retardation, autosomal dominant 20 10.3 UBE2S UBE2K
12 uterine adnexa cancer 10.3 UBE2S UBE2K
13 charcot-marie-tooth disease, axonal, type 2a1 10.3 LRSAM1 GDAP1
14 charcot-marie-tooth disease, dominant intermediate c 10.3 GDAP1 DNM2
15 charcot-marie-tooth disease, demyelinating, type 1d 10.3 LITAF GDAP1
16 charcot-marie-tooth disease type x 10.3 LITAF GDAP1
17 hereditary motor and sensory neuropathy, type iic 10.2 GDAP1 DNM2
18 charcot-marie-tooth disease, demyelinating, type 1f 10.2 LITAF GDAP1
19 charcot-marie-tooth disease, axonal, type 2j 10.2 GDAP1 ARHGEF10
20 charcot-marie-tooth disease, axonal, type 2k 10.2 GDAP1 DNAJB2
21 charcot-marie-tooth disease, axonal, type 2f 10.2 LITAF GDAP1
22 charcot-marie-tooth disease, axonal, type 2b 10.2 LITAF GDAP1 DNM2
23 charcot-marie-tooth disease, x-linked dominant, 1 10.2 LITAF GDAP1
24 charcot-marie-tooth disease, type 4a 10.2 LITAF GDAP1 DNM2
25 charcot-marie-tooth disease, type 4b1 10.2 LITAF GDAP1 DNM2
26 neuropathy, hereditary sensory, type iic 10.1 SPG21 MTRFR
27 charcot-marie-tooth disease, type 4d 10.1 LITAF GDAP1
28 spastic paraplegia 63, autosomal recessive 10.1 SPG21 MTRFR
29 charcot-marie-tooth disease, axonal, type 2b1 10.1 SPG21 LRSAM1 GDAP1
30 charcot-marie-tooth disease, demyelinating, type 1b 10.1 LITAF GDAP1
31 charcot-marie-tooth disease, type 4h 10.1 GDAP1 ARHGEF10
32 charcot-marie-tooth disease, demyelinating, type 4f 10.1 LITAF GDAP1 ARHGEF10
33 charcot-marie-tooth disease, demyelinating, type 1a 10.1 LITAF GDAP1 ARHGEF10
34 spastic paraplegia 49, autosomal recessive 10.1 SPG21 CYP2U1
35 charcot-marie-tooth disease, type 4j 10.1 LITAF GDAP1
36 spastic paraplegia 54, autosomal recessive 10.1 SPG21 CYP2U1
37 spastic paraplegia 46, autosomal recessive 10.1 SPG21 CYP2U1
38 cortical dysplasia, complex, with other brain malformations 6 10.0 UBE2S UBE2K LITAF GDAP1
39 spastic paraplegia 48, autosomal recessive 10.0 SPG21 CYP2U1
40 sensory peripheral neuropathy 10.0 SLC12A6 LITAF GDAP1
41 motor peripheral neuropathy 10.0 SLC12A6 LITAF DNAJB2
42 charcot-marie-tooth disease, type 4c 10.0 LITAF GDAP1
43 ataxia-oculomotor apraxia 3 10.0 SLC12A6 GAN
44 charcot-marie-tooth disease, demyelinating, type 1c 10.0 TSG101 LRSAM1 LITAF GDAP1 DNM2
45 neuropathy, hereditary sensory and autonomic, type iia 9.9 SLC12A6 LITAF GDAP1
46 charcot-marie-tooth disease intermediate type 9.9 LRSAM1 LITAF GDAP1 DNM2 DNAJB2
47 spastic paraplegia 56, autosomal recessive 9.9 SPG21 CYP2U1
48 neuropathy, hereditary, with liability to pressure palsies 9.9 LITAF GDAP1
49 amyotrophic lateral sclerosis 1 9.9
50 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 9.9

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hammertoe 31 occasional (7.5%) HP:0001765
2 toe walking 31 HP:0040083
3 areflexia 31 HP:0001284
4 pes cavus 31 HP:0001761
5 fasciculations 31 HP:0002380
6 hyporeflexia 31 HP:0001265
7 decreased motor nerve conduction velocity 31 HP:0003431
8 steppage gait 31 HP:0003376
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936
11 distal amyotrophy 31 HP:0003693
12 foot dorsiflexor weakness 31 HP:0009027
13 impaired distal vibration sensation 31 HP:0006886
14 axonal degeneration 31 HP:0040078
15 peripheral axonal degeneration 31 HP:0000764
16 axonal degeneration/regeneration 31 HP:0003378

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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


muscular fasciculation; muscle cramp

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.4 COX6A1 GAN PHF23 UBE2K
2 Decreased viability GR00381-A-1 9.4 LRSAM1
3 Decreased viability GR00386-A-1 9.4 GAN LRSAM1 MTRFR PHF23 PNPLA7
4 Decreased viability GR00402-S-2 9.4 LRSAM1 SLC12A6

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARHGEF10 COX6A1 CYP2U1 DNAJB2 DNM2 GAN
2 nervous system MP:0003631 9.36 ARHGEF10 COX6A1 DNM2 GAN GDAP1 LITAF

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

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

40
Skeletal Muscle, Brain

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

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

(show top 50) (show all 62)
# Title Authors PMID Year
1
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. 61 57 6
27686364 2016
2
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. 57 6
22781092 2013
3
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. 57 6
22012984 2012
4
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 57 6
20865121 2010
5
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. 57 6
14985381 2004
6
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 6 57
3022865 1986
7
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. 6 61
28335037 2017
8
A novel missense mutation of CMT2P alters transcription machinery. 61 6
27615052 2016
9
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 6
30996334 2019
10
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 6
30373780 2018
11
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease. 6
29341362 2018
12
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. 6
28676641 2017
13
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. 6
27343996 2016
14
DNM2 mutations in Chinese Han patients with centronuclear myopathy. 6
26908122 2016
15
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. 6
27164712 2016
16
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 6
26752306 2016
17
Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1. 6
28357347 2016
18
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 6
26842864 2016
19
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease. 6
26900582 2016
20
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. 6
26199319 2015
21
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 6
25957634 2015
22
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 6
25501959 2015
23
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. 6
26273216 2015
24
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 6
25492887 2015
25
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. 6
25262827 2014
26
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance. 6
24894446 2014
27
Myotonia in DNM2-related centronuclear myopathy. 6
24366529 2014
28
A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. 6
24016602 2014
29
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. 6
24135484 2014
30
Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. 6
24465259 2014
31
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. 6
23338057 2013
32
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. 6
23394783 2013
33
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 6
22613877 2012
34
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice. 6
22369075 2012
35
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 6
22396310 2012
36
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination. 6
22451505 2012
37
Common membrane trafficking defects of disease-associated dynamin 2 mutations. 6
21762456 2011
38
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 6
21221624 2011
39
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 6
20927630 2011
40
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 6
22096584 2011
41
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 6
20858595 2010
42
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. 6
20817456 2010
43
Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients. 6
20700106 2010
44
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 6
20529869 2010
45
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 6
20227276 2010
46
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 6
19932619 2010
47
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 6
19623537 2009
48
Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. 6
19130742 2008
49
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 6
18560793 2008
50
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 6
17932957 2007

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

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

6 (show top 50) (show all 709)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNM2 NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) SNV Pathogenic 465283 rs1555715869 GRCh37: 19:10934535-10934535
GRCh38: 19:10823859-10823859
2 DNM2 DNM2, 9-BP DEL, NT1652 Deletion Pathogenic 7276 GRCh37:
GRCh38:
3 DNM2 NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) SNV Pathogenic 246295 rs121909093 GRCh37: 19:10922991-10922991
GRCh38: 19:10812315-10812315
4 LRSAM1 NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) SNV Pathogenic 30859 rs387907032 GRCh37: 9:130263290-130263290
GRCh38: 9:127501011-127501011
5 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) Duplication Pathogenic 30860 rs786200930 GRCh37: 9:130265125-130265126
GRCh38: 9:127502846-127502847
6 LRSAM1 NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) SNV Pathogenic 241836 rs138226428 GRCh37: 9:130249974-130249974
GRCh38: 9:127487695-127487695
7 LRSAM1 NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) SNV Pathogenic 268046 rs886041051 GRCh37: 9:130265087-130265087
GRCh38: 9:127502808-127502808
8 LRSAM1 NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) SNV Pathogenic 408267 rs759312530 GRCh37: 9:130265086-130265086
GRCh38: 9:127502807-127502807
9 LRSAM1 NM_138361.5(LRSAM1):c.2093_2104del Deletion Pathogenic 472799 rs1554763017 GRCh37: 9:130265089-130265100
GRCh38: 9:127502810-127502821
10 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) SNV Pathogenic 7285 rs121909095 GRCh37: 19:10934538-10934538
GRCh38: 19:10823862-10823862
11 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) SNV Pathogenic 158514 rs587783595 GRCh37: 19:10922947-10922947
GRCh38: 19:10812271-10812271
12 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic 7282 rs121909092 GRCh37: 19:10904505-10904505
GRCh38: 19:10793829-10793829
13 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) SNV Pathogenic 7280 rs121909090 GRCh37: 19:10904508-10904508
GRCh38: 19:10793832-10793832
14 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) SNV Pathogenic 7281 rs121909091 GRCh37: 19:10909219-10909219
GRCh38: 19:10798543-10798543
15 LRSAM1 NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) SNV Pathogenic 540003 rs1345228128 GRCh37: 9:130236096-130236096
GRCh38: 9:127473817-127473817
16 LRSAM1 NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) Deletion Pathogenic 577820 rs749012928 GRCh37: 9:130257693-130257693
GRCh38: 9:127495414-127495414
17 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 GRCh37: 9:130263288-130263288
GRCh38: 9:127501009-127501009
18 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) SNV Pathogenic 7279 rs121909089 GRCh37: 19:10904509-10904509
GRCh38: 19:10793833-10793833
19 LRSAM1 NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) Duplication Pathogenic 639489 rs775965001 GRCh37: 9:130263327-130263328
GRCh38: 9:127501048-127501049
20 LRSAM1 NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) Duplication Pathogenic 651567 rs1315010600 GRCh37: 9:130263394-130263395
GRCh38: 9:127501115-127501116
21 LRSAM1 NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) Duplication Pathogenic 585203 rs1564287871 GRCh37: 9:130265104-130265105
GRCh38: 9:127502825-127502826
22 LRSAM1 NC_000009.12:g.(?_127501000)_(127501153_?)del Deletion Pathogenic 644828 GRCh37: 9:130263279-130263432
GRCh38: 9:127501000-127501153
23 LRSAM1 NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del Microsatellite Pathogenic 645695 rs1588132672 GRCh37: 9:130253562-130253563
GRCh38: 9:127491283-127491284
24 LRSAM1 NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) Deletion Pathogenic 859441 GRCh37: 9:130258359-130258359
GRCh38: 9:127496080-127496080
25 LRSAM1 NM_138361.5(LRSAM1):c.1333del (p.Gln445fs) Deletion Pathogenic 946022 GRCh37: 9:130250027-130250027
GRCh38: 9:127487748-127487748
26 DNM2 NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) SNV Pathogenic 931135 GRCh37: 19:10935787-10935787
GRCh38: 19:10825111-10825111
27 LRSAM1 NM_001005373.4(LRSAM1):c.781-2A>G SNV Pathogenic 998335 GRCh37: 9:130241660-130241660
GRCh38: 9:127479381-127479381
28 LRSAM1 NM_138361.5(LRSAM1):c.109del (p.Ser37fs) Deletion Pathogenic 969216 GRCh37: 9:130217313-130217313
GRCh38: 9:127455034-127455034
29 LRSAM1 NM_138361.5(LRSAM1):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 931649 GRCh37: 9:130245242-130245242
GRCh38: 9:127482963-127482963
30 LRSAM1 NM_138361.5(LRSAM1):c.1043+1G>A SNV Likely pathogenic 953272 GRCh37: 9:130242258-130242258
GRCh38: 9:127479979-127479979
31 LRSAM1 NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs) Duplication Likely pathogenic 841754 GRCh37: 9:130263352-130263353
GRCh38: 9:127501073-127501074
32 LRSAM1 NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) SNV Likely pathogenic 695013 rs1588143112 GRCh37: 9:130263381-130263381
GRCh38: 9:127501102-127501102
33 LRSAM1 NC_000009.11:g.(130264298_130265053)_(130265271_?)del Deletion Likely pathogenic 598943 GRCh37: 9:130264298-130265271
GRCh38: 9:127502019-127502992
34 LRSAM1 NC_000009.12:g.(?_127502764)_(127502909_?)del Deletion Likely pathogenic 831957 GRCh37: 9:130265043-130265188
GRCh38:
35 LRSAM1 NM_138361.5(LRSAM1):c.847_1088+563del Deletion Likely pathogenic 650288 GRCh37: 9:130241728-130244069
GRCh38: 9:127479449-127481790
36 LRSAM1 NM_138361.5(LRSAM1):c.1043+2T>G SNV Likely pathogenic 577857 rs746455518 GRCh37: 9:130242259-130242259
GRCh38: 9:127479980-127479980
37 LRSAM1 NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) Deletion Likely pathogenic 234769 rs876661208 GRCh37: 9:130263377-130263389
GRCh38: 9:127501098-127501110
38 LRSAM1 NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) Deletion Likely pathogenic 540008 rs1554763035 GRCh37: 9:130265108-130265108
GRCh38: 9:127502829-127502829
39 LRSAM1 NM_138361.5(LRSAM1):c.1348-1G>A SNV Likely pathogenic 472790 rs747659617 GRCh37: 9:130251722-130251722
GRCh38: 9:127489443-127489443
40 LRSAM1 NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) SNV Likely pathogenic 242907 rs879253755 GRCh37: 9:130265074-130265074
GRCh38: 9:127502795-127502795
41 DNM2 NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys) SNV Likely pathogenic 218920 rs864309705 GRCh37: 19:10904424-10904424
GRCh38: 19:10793748-10793748
42 DNM2 NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg) SNV Likely pathogenic 580216 rs746903992 GRCh37: 19:10913004-10913004
GRCh38: 19:10802328-10802328
43 DNM2 NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) SNV Likely pathogenic 7287 rs267606772 GRCh37: 19:10904475-10904475
GRCh38: 19:10793799-10793799
44 LRSAM1 NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) SNV Conflicting interpretations of pathogenicity 414879 rs771491533 GRCh37: 9:130241775-130241775
GRCh38: 9:127479496-127479496
45 LRSAM1 NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) SNV Conflicting interpretations of pathogenicity 408269 rs150784835 GRCh37: 9:130217298-130217298
GRCh38: 9:127455019-127455019
46 LRSAM1 NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) SNV Conflicting interpretations of pathogenicity 365031 rs139344911 GRCh37: 9:130258316-130258316
GRCh38: 9:127496037-127496037
47 LRSAM1 NM_138361.5(LRSAM1):c.1504-5C>G SNV Conflicting interpretations of pathogenicity 365029 rs377190920 GRCh37: 9:130255076-130255076
GRCh38: 9:127492797-127492797
48 LRSAM1 NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) SNV Conflicting interpretations of pathogenicity 241838 rs201284198 GRCh37: 9:130263306-130263306
GRCh38: 9:127501027-127501027
49 DNM2 NM_001005360.2(DNM2):c.890G>A (p.Arg297His) SNV Conflicting interpretations of pathogenicity 327977 rs763894364 GRCh37: 19:10897280-10897280
GRCh38: 19:10786604-10786604
50 LRSAM1 NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) SNV Conflicting interpretations of pathogenicity 578496 rs373570877 GRCh37: 9:130245293-130245293
GRCh38: 9:127483014-127483014

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

72
# Symbol AA change Variation ID SNP ID
1 LRSAM1 p.Cys694Arg VAR_077460 rs759312530

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

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2p.

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

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.65 UBE2S UBE2K TRIM2 LRSAM1 GAN
2 protein polyubiquitination GO:0000209 9.46 UBE2S UBE2K TRIM2 LRSAM1
3 mitochondrial fission GO:0000266 9.32 GDAP1 DNM2
4 viral budding GO:0046755 8.96 TSG101 LRSAM1
5 free ubiquitin chain polymerization GO:0010994 8.62 UBE2S UBE2K

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2p according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 8.96 LITAF DNM2
2 ubiquitin-protein transferase activity GO:0004842 8.92 UBE2S UBE2K TRIM2 LRSAM1

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

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