MCID: CHR537
MIFTS: 41

Charcot-Marie-Tooth Disease, Type 1e malady

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

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

About this section
Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 1e:

Name: Charcot-Marie-Tooth Disease, Type 1e 49 11
Charcot-Marie-Tooth Disease Type 1 10 45 12
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 45 65
Charcot-Marie-Tooth Disease Type 1e 45 51
Charcot Marie Tooth Disease Type 1e 45 24
Cmt1e 51 67
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant 45
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease 45
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant 67
 
Charcot-Marie-Tooth Disease Demyelinating Type 1e 67
Hereditary Motor and Sensory Neuropathy Type 1 45
Charcot-Marie-Tooth Disease and Deafness 45
Charcot-Marie-Tooth Neuropathy Type 1e 67
Charcot-Marie-Tooth Disease - Deafness 51
Charcot-Marie-Tooth Disease 1e 67
Charcot-Marie-Tooth Type 1 45
Cmt 1e 45
Cmt1 45


Classifications:



Characteristics (Orphanet epidemiological data):

51

External Ids:

OMIM49 118300
Disease Ontology10 DOID:0050538
Orphanet51 90658
ICD10 via Orphanet28 G60.0
MESH via Orphanet37 C537986, C538078
UMLS via Orphanet66 C1861669, C2931686
MeSH36 D002607

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

About this section
UniProtKB/Swiss-Prot:67 Charcot-Marie-Tooth disease 1E: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.

MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1, is related to charcot-marie-tooth disease, type 2i and charcot-marie-tooth disease, type 2j, and has symptoms including autosomal dominant inheritance, sensorineural hearing impairment and split hand. An important gene associated with Charcot-Marie-Tooth Disease, Type 1e is PMP22 (Peripheral Myelin Protein 22), and among its related pathways is Neural Crest Differentiation. Related mouse phenotype homeostasis/metabolism.

Description from OMIM:49 118300

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

About this section

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
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 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d 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, 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, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Autosomal Dominant Intermediate Charcot-Marie-Tooth
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 Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
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
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2p
Charcot-Marie-Tooth Disease Type 2q 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 2p Surf1-Related Charcot-Marie-Tooth Disease Type 4
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 2i30.2MPZ, NR0B1
2charcot-marie-tooth disease, type 2j30.2MPZ, NR0B1
3charcot-marie-tooth disease, type 1b30.0GJB1, KIF1B, MPZ, NR0B1
4charcot-marie-tooth neuropathy type 130.0EGR2, GJB1, KIF1B, LITAF, MPZ
5charcot-marie-tooth disease, type 2e29.7GJB1, KIF1B, MPZ, PMP22
6sensory neuropathy type 110.8
7x-linked charcot-marie-tooth disease type 110.8
8charcot-marie-tooth type 1 aplasia cutis congenita10.7
9neuropathy10.7
10charcot-marie-tooth disease - deafness - intellectual disability10.6
11charcot-marie-tooth disease10.5
12tooth disease10.5
13charcot-marie-tooth disease, type 1d10.4
14charcot-marie-tooth disease, type 1c10.4
15charcot-marie-tooth disease, type 1a10.4
16roussy-levy syndrome10.4
17chronic inflammatory demyelinating polyneuropathy10.4
18restless legs syndrome10.4
19cauda equina syndrome10.4
20demyelinating polyneuropathy10.4
21polyneuropathy10.4
22sleep disorder10.4
23hereditary neuropathy with liability to pressure palsy10.4
24x-linked charcot-marie-tooth disease10.4
25hereditary neuropathies10.4
26peripheral neuropathy10.4
27charcot-marie-tooth disease, dominant intermediate b10.3
28charcot-marie-tooth neuropathy10.3
29generalized gangliosidoses10.2MPZ, PMP22
30charcot-marie-tooth disease, dominant intermediate d10.2MPZ, NR0B1
31congenital symblepharon10.2MPZ, PMP22
32streptococcal meningitis10.1EGR2, PMP22
33adult xanthogranuloma10.1MPZ, PMP22
34pigmentary cirrhosis10.1MPZ, PMP22
35potocki-lupski syndrome10.1CMT1A, NR0B1, PMP22
36spastic paraplegia 2, x-linked10.1MPZ, PMP22
37charcot-marie-tooth disease, type 1e10.1CMT1A, NR0B1, PMP22
38sarcomatoid squamous cell skin carcinoma10.1LITAF, PMP22
39polyradiculopathy10.1MPZ, PMP22
40diamond-blackfan anemia10.1MPZ, PMP22
41neuroendocrine tumor10.0MPZ, PMP22
42htlv-1 associated myelopathy10.0GJB1, MPZ, PMP22
43peripheral nervous system neoplasm10.0GJB1, MPZ, PMP22
44hereditary nodular heterotopia10.0LITAF, MPZ, PMP22
45neuromuscular junction disease10.0GJB1, MPZ, PMP22
46charcot-marie-tooth disease, type 2a110.0
47charcot-marie-tooth disease, type 2a210.0
48charcot-marie-tooth disease, type 2b110.0
49charcot-marie-tooth disease, axonal, type 2t10.0
50charcot-marie-tooth disease, type 2b10.0

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



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

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

About this section

Symptoms by clinical synopsis from OMIM:

118300

Clinical features from OMIM:

118300

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

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sensorineural hearing impairment HP:0000407
3 split hand HP:0001171
4 hyporeflexia HP:0001265
5 areflexia HP:0001284
6 pes cavus HP:0001761
7 hammertoe HP:0001765
8 talipes calcaneovalgus HP:0001884
9 distal muscle weakness HP:0002460
10 distal sensory impairment HP:0002936
11 steppage gait HP:0003376
12 decreased motor nerve conduction velocity HP:0003431
13 juvenile onset HP:0003621
14 distal amyotrophy HP:0003693
15 foot dorsiflexor weakness HP:0009027
16 childhood onset HP:0011463

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

About this section

Drugs for Charcot-Marie-Tooth Disease, Type 1e (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Capproved, nutraceuticalPhase 2, Phase 339850-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
2Botulinum Toxins, Type APhase 2, Phase 1561
3Botulinum ToxinsPhase 2, Phase 1590
4serineNutraceuticalPhase 1, Phase 2420

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1High Dose Ascorbic Acid Treatment of CMT1ACompletedNCT00484510Phase 2, Phase 3
2Phase III Trial Assessing the Efficacy and Safety of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A (PLEO-CMT)RecruitingNCT02579759Phase 3
3Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)Not yet recruitingNCT01289704Phase 2, Phase 3
4Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1ACompletedNCT01401257Phase 2
5Ascorbic Acid Treatment in CMT1A Trial (AATIC)CompletedNCT00271635Phase 2
6Treatment of Thoracic Outlet Syndrome (TOS) With BotoxCompletedNCT00444886Phase 2
7Acute Human Study: StimRouter for Peripheral Nerve Stimulation of Discrete Peripheral NervesCompletedNCT00665132Phase 1, Phase 2
8Acupuncture for Carpal Tunnel SyndromeCompletedNCT00000394Phase 2
9L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1Active, not recruitingNCT01733407Phase 1, Phase 2
10Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1ANot yet recruitingNCT02600286Phase 2
11Botulinum Toxin Injections for Thoracic Outlet SyndromeNot yet recruitingNCT01405482Phase 1
12Efficacy of Pulsed Radiofrequency of the Median Nerve Under Ultrasound Guidance in Patients With Carpal Tunnel SyndromeCompletedNCT02217293
13Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2RecruitingNCT01193088
14Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and OthersRecruitingNCT01193075
15The Effect of Platelet Rich Plasma for Carpal Tunnel SyndromeRecruitingNCT02539186
16Non-surgical Treatment of Carpal Tunnel Syndrome by Means of Mechanical TractionActive, not recruitingNCT01949493
17Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710
18Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and BiomarkersNot yet recruitingNCT02596191

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

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

About this section

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

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ie24
2 Charcot-Marie-Tooth Disease, Type I24

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

About this section

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

About this section

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 1e:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.0ACKR1, EGR2, GJB1, LITAF, MPZ, NR0B1

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

About this section

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

idTitleAuthorsYear
1
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation. (23781966)
2013

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

About this section

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

67
id Symbol AA change Variation ID SNP ID
1PMP22p.Ala67ProVAR_009661
2PMP22p.Thr23ArgVAR_029961
3PMP22p.Trp28ArgVAR_029963

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MPZNM_000530.6(MPZ): c.293G> A (p.Arg98His)single nucleotide variantPathogenicrs121913589GRCh37Chr 1, 161276653: 161276653
2PMP22NM_000304.2(PMP22): c.(?-1)_(*1137_?)deldeletionPathogenic
3PMP22NM_000304.2(PMP22): c.(?-1)_(*1137_?)dupduplicationPathogenic
4PMP22NM_000304.3(PMP22): c.117G> C (p.Trp39Cys)single nucleotide variantPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
5PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
6PMP22NM_000304.3(PMP22): c.36C> A (p.His12Gln)single nucleotide variantPathogenicrs104894622GRCh37Chr 17, 15164009: 15164009
7PMP22NM_000304.3(PMP22): c.199G> C (p.Ala67Pro)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
8PMP22NM_000304.3(PMP22): c.82T> C (p.Trp28Arg)single nucleotide variantPathogenicrs104894626GRCh37Chr 17, 15162507: 15162507
9PMP22NM_000304.3(PMP22): c.344_355delCCATCTACACGG (p.Ala115_Thr118del)deletionPathogenicrs786205111GRCh38Chr 17, 15231045: 15231056
10PMP22NM_000304.3(PMP22): c.469C> T (p.Arg157Trp)single nucleotide variantPathogenicrs28936682GRCh37Chr 17, 15134248: 15134248

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

About this section
Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 1e.

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

About this section

Pathways related to Charcot-Marie-Tooth Disease, Type 1e according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3GJB1, MPZ, PMP22

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

About this section

Biological processes related to Charcot-Marie-Tooth Disease, Type 1e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peripheral nervous system developmentGO:00074229.8EGR2, PMP22

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

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet