CMT2X
MCID: CHR613
MIFTS: 26

Charcot-Marie-Tooth Disease, Axonal, Type 2x (CMT2X)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2x 58 76
Cmt2x 58 60 76
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2x 58 76
Charcot-Marie-Tooth Disease, Axonal Type 2x 30 6
Charcot-Marie-Tooth Neuropathy, Type 2x 58 76
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 Due to Spg11 Mutation 60
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2x 12
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2x 60
Autosomal Recessive Charcot Marie Tooth Disease Type 2x 17
Charcot-Marie-Tooth Disease Axonal Type 2x 12
Charcot-Marie-Tooth Neuropathy Type 2x 12
Charcot-Marie-Tooth Disease 2x 76
Arcmt2x 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
slowly progressive
mean age at onset 11.4 years (range 4 to 35)


HPO:

33
charcot-marie-tooth disease, axonal, type 2x:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2X: An autosomal recessive, 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. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2x, is also known as cmt2x. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2x is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). Affiliated tissues include skin, and related phenotypes are tremor and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.

OMIM : 58 Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616668)

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

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

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 tremor 33 occasional (7.5%) HP:0001337
2 pes cavus 33 occasional (7.5%) HP:0001761
3 kyphoscoliosis 33 occasional (7.5%) HP:0002751
4 abnormality of the hand 33 occasional (7.5%) HP:0001155
5 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
6 ankle contracture 33 occasional (7.5%) HP:0006466
7 cognitive impairment 33 HP:0100543
8 areflexia 33 HP:0001284
9 foot dorsiflexor weakness 33 HP:0009027
10 peripheral axonal neuropathy 33 HP:0003477
11 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
distal sensory impairment
foot drop
axonal neuropathy
hypo- or areflexia
gait impairment due to neuropathy
more
Skeletal Spine:
kyphoscoliosis (in some patients)

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs
distal muscle atrophy due to peripheral neuropathy, lower limbs more affected than upper limbs
chronic denervation/reinnervation seen on emg

Skeletal:
ankle contractures (in some patients)

Neurologic Central Nervous System:
tremor (in some patients)
thin corpus callosum (1 family)
cognitive impairment, mild, (1 family)

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

Genitourinary Bladder:
urinary dysfunction (in some patients)

Skeletal Hands:
hand deformities (in some patients)

Clinical features from OMIM:

616668

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

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal Type 2x 30 SPG11

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

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

42
Skin

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

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

# Title Authors Year
1
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. ( 26556829 )
2016
2
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. ( 20110243 )
2010
3
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. ( 18332254 )
2008
4
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. ( 17322883 )
2007

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

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic rs118203963 GRCh37 Chromosome 15, 44865850: 44865850
2 SPG11 NM_025137.3(SPG11): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic rs118203963 GRCh38 Chromosome 15, 44573652: 44573652
3 SPG11 NM_025137.3(SPG11): c.529_533delATATT (p.Ile177Serfs) deletion Pathogenic rs312262716 GRCh37 Chromosome 15, 44951411: 44951415
4 SPG11 NM_025137.3(SPG11): c.529_533delATATT (p.Ile177Serfs) deletion Pathogenic rs312262716 GRCh38 Chromosome 15, 44659213: 44659217
5 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh37 Chromosome 15, 44955728: 44955728
6 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh38 Chromosome 15, 44663530: 44663530
7 SPG11 NM_025137.3(SPG11): c.6632dupG (p.Pro2212Serfs) duplication Pathogenic rs863225439 GRCh38 Chromosome 15, 44567546: 44567546
8 SPG11 NM_025137.3(SPG11): c.6632dupG (p.Pro2212Serfs) duplication Pathogenic rs863225439 GRCh37 Chromosome 15, 44859744: 44859744
9 SPG11 NM_025137.3(SPG11): c.592C> T (p.Gln198Ter) single nucleotide variant Pathogenic rs863225440 GRCh37 Chromosome 15, 44951352: 44951352
10 SPG11 NM_025137.3(SPG11): c.592C> T (p.Gln198Ter) single nucleotide variant Pathogenic rs863225440 GRCh38 Chromosome 15, 44659154: 44659154
11 SPG11 NM_025137.3(SPG11): c.6899T> C (p.Leu2300Pro) single nucleotide variant Pathogenic/Likely pathogenic rs371334506 GRCh37 Chromosome 15, 44858152: 44858152
12 SPG11 NM_025137.3(SPG11): c.6899T> C (p.Leu2300Pro) single nucleotide variant Pathogenic/Likely pathogenic rs371334506 GRCh38 Chromosome 15, 44565954: 44565954
13 SPG11 NM_025137.3(SPG11): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs765061840 GRCh37 Chromosome 15, 44925817: 44925817
14 SPG11 NM_025137.3(SPG11): c.1621C> T (p.Gln541Ter) single nucleotide variant Pathogenic rs765061840 GRCh38 Chromosome 15, 44633619: 44633619
15 SPG11 NM_025137.3(SPG11): c.604A> G (p.Met202Val) single nucleotide variant Uncertain significance rs201875705 GRCh38 Chromosome 15, 44659142: 44659142
16 SPG11 NM_025137.3(SPG11): c.604A> G (p.Met202Val) single nucleotide variant Uncertain significance rs201875705 GRCh37 Chromosome 15, 44951340: 44951340
17 SPG11 NM_025137.3(SPG11): c.3425C> G (p.Ser1142Cys) single nucleotide variant Uncertain significance rs201082396 GRCh37 Chromosome 15, 44900670: 44900670
18 SPG11 NM_025137.3(SPG11): c.3425C> G (p.Ser1142Cys) single nucleotide variant Uncertain significance rs201082396 GRCh38 Chromosome 15, 44608472: 44608472
19 SPG11 NM_025137.3(SPG11): c.6625C> T (p.Arg2209Cys) single nucleotide variant Uncertain significance rs374057859 GRCh38 Chromosome 15, 44567553: 44567553
20 SPG11 NM_025137.3(SPG11): c.6625C> T (p.Arg2209Cys) single nucleotide variant Uncertain significance rs374057859 GRCh37 Chromosome 15, 44859751: 44859751
21 SPG11 NM_025137.3(SPG11): c.6043G> A (p.Asp2015Asn) single nucleotide variant Uncertain significance rs771242219 GRCh37 Chromosome 15, 44865907: 44865907
22 SPG11 NM_025137.3(SPG11): c.6043G> A (p.Asp2015Asn) single nucleotide variant Uncertain significance rs771242219 GRCh38 Chromosome 15, 44573709: 44573709
23 SPG11 NM_025137.3(SPG11): c.1085G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs140385286 GRCh37 Chromosome 15, 44944060: 44944060
24 SPG11 NM_025137.3(SPG11): c.1085G> A (p.Trp362Ter) single nucleotide variant Pathogenic rs140385286 GRCh38 Chromosome 15, 44651862: 44651862
25 SPG11 NM_025137.3(SPG11): c.5471G> A (p.Arg1824Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 44876407: 44876407
26 SPG11 NM_025137.3(SPG11): c.5471G> A (p.Arg1824Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 44584209: 44584209

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

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

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

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

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