MCID: CHR536
MIFTS: 43

Charcot-Marie-Tooth Disease, Type 1a malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Ear diseases, Metabolic diseases categories

Summaries for Charcot-Marie-Tooth Disease, Type 1a

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NIH Rare Diseases:41 Charcot-marie-tooth disease type 1a (cmt1a) is a type of inherited neurological disorder that affects the peripheral nerves. affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. cmt1a is caused by having an extra copy (a duplication) of the pmp22 gene. it is inherited in an autosomal dominant manner. treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications. last updated: 9/7/2012

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1a, also known as charcot-marie-tooth disease, demyelinating, type 1a, is related to charcot-marie-tooth disease and neuropathy, and has symptoms including pes cavus, abnormality of the motor neurons and impaired vibratory sensation. An important gene associated with Charcot-Marie-Tooth Disease, Type 1a is CMT1A (Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)). Affiliated tissues include testes, spinal cord and skeletal muscle.

OMIM:45 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1,... (118220) more...

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 1a

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 20GeneTests, 43Novoseek, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Charcot-Marie-Tooth Disease, Type 1a, Aliases & Descriptions:

Name: Charcot-Marie-Tooth Disease, Type 1a 45 10
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 45 41
Charcot Marie Tooth Disease Type 1a 41 22
Charcot-Marie-Tooth Disease Type 1a 41 47
Microduplication 17p12 41 47
Cmt1a 41 47
 
Hereditary Motor and Sensory Neuropathy 1a 41
Charcot-Marie-Tooth Neuropathy, Type 1a 43
Charcot-Marie-Tooth Neuropathy Type 1a 20
Charcot-Marie-Tooth Disease, Type Ia 60
Hmsn 1a 41
Cmt 1a 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
charcot-marie-tooth disease type 1a:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM45 118220
Orphanet47 101081
ICD10 via Orphanet26 G60.0
UMLS via Orphanet61 C0270911

Related Diseases for Charcot-Marie-Tooth Disease, Type 1a

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Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Type 4b2
Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Recessive Intermediate, a
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B charcot-marie-tooth disease, type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Type 4f
Charcot-Marie-Tooth Disease, Type 2b2 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Dominant Intermediate 1
Charcot-Marie-Tooth Disease Dominant Intermediate 2 Charcot-Marie-Tooth Disease Dominant Intermediate 3
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease Type 2k
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

Diseases related to Charcot-Marie-Tooth Disease, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease32.5PMP22
2neuropathy32.0PMP22
3charcot-marie-tooth neuropathy type 130.5PMP22
4roussy-levy syndrome30.2PMP22, CMT1A
5dejerine-sottas disease30.0PMP22, CMT1A
6neuropathy, inflammatory demyelinating29.9PMP22, CMT1A
7charcot-marie-tooth disease, type 1e29.9PMP22, CMT1A
8neuropathy, recurrent, with pressure palsies29.9PMP22, CMT1A
9tooth disease11.6
10hereditary neuropathy with liability to pressure palsy11.0
11hereditary neuropathies11.0
12blindness10.8
13peripheral neuropathy10.8
14chronic inflammatory demyelinating polyneuropathy10.6
15demyelinating polyneuropathy10.6
16polyneuropathy10.6
17duchenne muscular dystrophy10.5
18muscular dystrophy10.5
19pitt-hopkins syndrome10.5
20myasthenia gravis10.5
21myotonia10.5
22charcot-marie-tooth disease, type 1b10.2
23spinal muscular atrophy10.2
24muscular atrophy10.2
25colorectal cancer10.0
26charcot-marie-tooth disease, type 2a110.0
27charcot-marie-tooth disease, type 2a210.0
28becker muscular dystrophy10.0
29poems syndrome10.0
30arthropathy10.0

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 1a:



Diseases related to charcot-marie-tooth disease, type 1a

Symptoms for Charcot-Marie-Tooth Disease, Type 1a

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Symptoms by clinical synopsis from OMIM:

118220

Clinical features from OMIM:

118220

HPO human phenotypes related to Charcot-Marie-Tooth Disease, Type 1a:

(show all 31)
id Description Frequency HPO Source Accession
1 pes cavus HP:0001761
2 abnormality of the motor neurons HP:0002450
3 impaired vibratory sensation HP:0002495
4 hypertrophic nerve changes HP:0003382
5 decreased motor nerve conduction velocity HP:0003431
6 impaired pain sensation HP:0007328
7 impaired temperature sensation HP:0010829
8 impaired proprioception HP:0010831
9 autosomal dominant inheritance HP:0000006
10 hearing impairment HP:0000365
11 ulnar claw HP:0001178
12 hyporeflexia HP:0001265
13 areflexia HP:0001284
14 heterogeneous HP:0001425
15 hammertoe HP:0001765
16 distal muscle weakness HP:0002460
17 kyphoscoliosis HP:0002751
18 distal sensory impairment HP:0002936
19 steppage gait HP:0003376
20 decreased number of peripheral myelinated nerve fibers HP:0003380
21 onion bulb formation HP:0003383
22 cold-induced muscle cramps HP:0003449
23 segmental peripheral demyelination/remyelination HP:0003481
24 insidious onset HP:0003587
25 juvenile onset HP:0003621
26 slow progression HP:0003677
27 limb muscle weakness HP:0003690
28 distal amyotrophy HP:0003693
29 variable expressivity HP:0003828
30 myelin outfoldings HP:0004336
31 foot dorsiflexor weakness HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 1a

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Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease, Type 1a

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 1a

Genetic Tests for Charcot-Marie-Tooth Disease, Type 1a

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Genetic tests related to Charcot-Marie-Tooth Disease, Type 1a:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Neuropathy Type 1a20 PMP22
2 Charcot-Marie-Tooth Disease, Type Ia22

Anatomical Context for Charcot-Marie-Tooth Disease, Type 1a

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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 1a:

31
Testes, Spinal cord, Skeletal muscle

Animal Models for Charcot-Marie-Tooth Disease, Type 1a or affiliated genes

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Publications for Charcot-Marie-Tooth Disease, Type 1a

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Articles related to Charcot-Marie-Tooth Disease, Type 1a:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Pain and small fiber function in Charcot Marie Tooth disease type 1A. (24395492)
2014
2
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. (24449066)
2014
3
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. (24515601)
2014
4
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. (24646194)
2014
5
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A. (23965405)
2013
6
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
7
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
8
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients. (22996176)
2012
9
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan. (22632984)
2012
10
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. (21393063)
2011
11
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A. (20544937)
2010
12
Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective? (19818689)
2009
13
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. (19818690)
2009
14
Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. (18844790)
2008
15
Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]. (18616154)
2008
16
Hand involvement in children with Charcot-Marie-Tooth disease type 1A. (18993073)
2008
17
Charcot-Marie-Tooth disease type 1A associated with acute porphyric neuropathy. (17956430)
2007
18
Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot-Marie-tooth disease type 1A. (16307437)
2006
19
Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. (16788010)
2006
20
Charcot-Marie-Tooth disease type 1A with central nervous system involvement in two generations. (15083299)
2004
21
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study. (15239197)
2004
22
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? (15363066)
2004
23
Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. (14607794)
2004
24
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication. (14502374)
2003
25
Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. (14600466)
2003
26
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. (14555828)
2003
27
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. (11331611)
2001
28
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate. (10915777)
2000
29
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. (10586272)
1999
30
Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. (9818900)
1998
31
Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study. (9566395)
1998
32
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. (9409359)
1997
33
De novo mutation of Charcot-Marie-Tooth disease type 1A. (9308980)
1997
34
Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A. (8981968)
1997
35
Pressure palsy as the initial presentation in a case of late-onset Charcot-Marie-Tooth disease type 1A. (9240501)
1997
36
Normalized Southern Hybridization to Enhance Testing for Charcot-Marie-Tooth Disease, Type 1A. (10330199)
1996
37
Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion. (8682501)
1996
38
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. (8608515)
1996
39
Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. (8937360)
1996
40
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. (8644705)
1996
41
Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. (8956042)
1996
42
Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication]. (8821490)
1995
43
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. (8532623)
1995
44
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. (8615087)
1995
45
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. (8252046)
1993
46
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot- Marie-Tooth disease type 1A. (1303281)
1992
47
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1552536)
1992
48
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. (1303230)
1992
49
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. (11980069)
1991-1992
50
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. (1674726)
1991

Variations for Charcot-Marie-Tooth Disease, Type 1a

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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 1a:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1PMP22p.Leu16ProVAR_006360
2PMP22p.Ser72LeuVAR_006363
3PMP22p.Ser79CysVAR_006367
4PMP22p.Leu105ArgVAR_006373
5PMP22p.Gly107ValVAR_006374
6PMP22p.Thr118MetVAR_006375rs104894619
7PMP22p.Leu147ArgVAR_006377
8PMP22p.Asp37ValVAR_009660
9PMP22p.Gly93ArgVAR_009662
10PMP22p.Ser22PheVAR_029960
11PMP22p.Val65PheVAR_029964

Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 1a:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22PMP22, 1.4-MB TRIPLICATIONundetermined variantPathogenic
2PMP22PMP22, 1-BP DEL, 281GdeletionPathogenic
3PMP22PMP22, 1.4-MB DUPduplicationPathogenic
4PMP22NM_000304.3(PMP22): c.47T> C (p.Leu16Pro)single nucleotide variantPathogenicrs104894617GRCh37Chr 17, 15163998: 15163998
5PMP22NM_000304.3(PMP22): c.236C> G (p.Ser79Cys)single nucleotide variantPathogenicrs104894618GRCh37Chr 17, 15142871: 15142871
6PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
7PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980

Expression for genes affiliated with Charcot-Marie-Tooth Disease, Type 1a

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Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 1a.

Pathways for genes affiliated with Charcot-Marie-Tooth Disease, Type 1a

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Compounds for genes affiliated with Charcot-Marie-Tooth Disease, Type 1a

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GO Terms for genes affiliated with Charcot-Marie-Tooth Disease, Type 1a

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Products for genes affiliated with Charcot-Marie-Tooth Disease, Type 1a

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Sources for Charcot-Marie-Tooth Disease, Type 1a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet