CMT2X
MCID: CHR613
MIFTS: 24

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 56 73
Cmt2x 56 58 73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2x 56 73
Charcot-Marie-Tooth Disease, Axonal Type 2x 29 6
Charcot-Marie-Tooth Neuropathy, Type 2x 56 73
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 Due to Spg11 Mutation 58
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2x 12
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2x 58
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 73
Arcmt2x 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110176
OMIM 56 616668
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
Orphanet 58 ORPHA466775

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

UniProtKB/Swiss-Prot : 73 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). Related phenotypes are tremor and kyphoscoliosis

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 : 56 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 tremor 31 occasional (7.5%) HP:0001337
2 kyphoscoliosis 31 occasional (7.5%) HP:0002751
3 pes cavus 31 occasional (7.5%) HP:0001761
4 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
5 ankle flexion contracture 31 occasional (7.5%) HP:0006466
6 abnormality of the hand 31 occasional (7.5%) HP:0001155
7 cognitive impairment 31 HP:0100543
8 areflexia 31 HP:0001284
9 distal sensory impairment 31 HP:0002936
10 foot dorsiflexor weakness 31 HP:0009027
11 peripheral axonal neuropathy 31 HP:0003477

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
distal sensory impairment
foot drop
axonal neuropathy
hypo- or areflexia
gait impairment due to neuropathy
more
Neurologic Central Nervous System:
tremor (in some patients)
thin corpus callosum (1 family)
cognitive impairment, mild, (1 family)

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)

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Feet:
foot deformities (in some patients)
pes cavus (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 29 SPG11

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

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

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

# Title Authors PMID Year
1
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 6 56
26556829 2016
2
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 6
20110243 2010
3
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 6
18332254 2008
4
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 6
17322883 2007
5
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998

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

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

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG11 NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)SNV Pathogenic 488833 rs140385286 15:44944060-44944060 15:44651862-44651862
2 SPG11 NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)SNV Pathogenic 1109 rs118203963 15:44865850-44865850 15:44573652-44573652
3 SPG11 NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs)short repeat Pathogenic 1110 rs312262716 15:44951411-44951415 15:44659213-44659217
4 SPG11 NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)SNV Pathogenic 1111 rs267607084 15:44955728-44955728 15:44663530-44663530
5 SPG11 NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)duplication Pathogenic 218142 rs863225439 15:44859743-44859744 15:44567545-44567546
6 SPG11 NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)SNV Pathogenic 218143 rs863225440 15:44951352-44951352 15:44659154-44659154
7 SPG11 NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)SNV Pathogenic 235891 rs765061840 15:44925817-44925817 15:44633619-44633619
8 SPG11 NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)SNV Pathogenic/Likely pathogenic 235890 rs371334506 15:44858152-44858152 15:44565954-44565954
9 SPG11 NM_025137.4(SPG11):c.5199del (p.Lys1733fs)deletion Likely pathogenic 804472 15:44876679-44876679 15:44584481-44584481
10 SPG11 NM_025137.4(SPG11):c.604A>G (p.Met202Val)SNV Uncertain significance 316113 rs201875705 15:44951340-44951340 15:44659142-44659142
11 SPG11 NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)SNV Uncertain significance 571323 rs752401008 15:44876407-44876407 15:44584209-44584209
12 SPG11 NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)SNV Uncertain significance 406532 rs201082396 15:44900670-44900670 15:44608472-44608472
13 SPG11 NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)SNV Uncertain significance 466559 rs374057859 15:44859751-44859751 15:44567553-44567553
14 SPG11 NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn)SNV Uncertain significance 466550 rs771242219 15:44865907-44865907 15:44573709-44573709

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....