CMT1A
MCID: CHR627
MIFTS: 51

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 53
Charcot-Marie-Tooth Disease, Type Ia 29 6 40 73
Charcot-Marie-Tooth Disease Type 1a 12 53 59 15
Cmt1a 57 12 59 75
Hmsn1a 57 12 75
Hereditary Motor and Sensory Neuropathy Ia 57 75
Hereditary Motor and Sensory Neuropathy 1a 12 53
Charcot-Marie-Tooth Neuropathy, Type 1a 57 55
Charcot-Marie-Tooth Neuropathy Type 1a 12 75
Charcot-Marie-Tooth Disease, Type 1a 57 13
Microduplication 17p12 12 59
Hmsn Ia 57 75
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a 57
Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a 12
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy 75
Hereditary Motor and Sensory Neuropathy Ia; Hmsn Ia 57
Charcot-Marie-Tooth Disease Demyelinating Type 1a 75
Charcot Marie Tooth Disease Type 1a 53
Charcotmarietooth Disease Type 1a 76
Charcot-Marie-Tooth Disease 1a 75
Hmsn 1a 53
Cmt 1a 53

Characteristics:

Orphanet epidemiological data:

59
charcot-marie-tooth disease type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
onset in first or second decade
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
insidious onset
genetic heterogeneity (see cmt1b, )
allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness


HPO:

32
charcot-marie-tooth disease, demyelinating, type 1a:
Onset and clinical course variable expressivity insidious onset slow progression juvenile onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 53 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. In CMT1A, abnormal nerve conduction studies can be found in babies or toddlers, but the symptoms that are characteristic of the disease may not occur until 20 years of age or later. 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. The severity and degree of disability varies very much among the affected people.

MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1a, also known as charcot-marie-tooth disease, type ia, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and t cells, and related phenotypes are skeletal muscle atrophy and gait imbalance

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

OMIM : 57 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (36,39:Lupski et al., 1991, 1992). (118220)

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 1A: A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

Wikipedia : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... more...

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

Diseases in the Charcot-Marie-Tooth Disease, Demyelinating, Type 1a family:

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 31.8 PMP22 MPZ
2 charcot-marie-tooth disease, axonal, type 2a1 31.6 MFN2 KIF1B
3 neuropathy - hereditary 30.2 PMP22 MPZ
4 neuropathy 30.1 PMP22 MPZ MFN2 GJB1 GDAP1 EGR2
5 polyneuropathy 30.0 PMP22 MPZ GDAP1
6 charcot-marie-tooth disease and deafness 29.8 PMP22 NTF3 MTMR2 MPZ MFN2 KIF1B
7 peripheral nervous system disease 29.6 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
8 tooth disease 29.4 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
9 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.1 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
10 charcot-marie-tooth disease 29.1 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
11 sensory peripheral neuropathy 29.0 PMP22 NTF3 MTMR2 MPZ MFN2 GJB1
12 neuropathy, hereditary, with liability to pressure palsies 28.8 PMP22 MTMR2 MPZ MFN2 KIF1B GJB1
13 neuropathy, hereditary, with or without age-related macular degeneration 11.0
14 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.0
15 yuan-harel-lupski syndrome 11.0
16 chronic inflammatory demyelinating polyneuropathy 10.5
17 pseudomyxoma peritonei 10.5
18 erythermalgia, primary 10.4
19 myasthenia gravis 10.4
20 body mass index quantitative trait locus 1 10.4
21 pitt-hopkins syndrome 10.4
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
23 myotonia congenita 10.4
24 myasthenia gravis congenital 10.4
25 riboflavin transporter deficiency 10.4
26 myotonia 10.4
27 polyneuropathy associated with igm monoclonal gammapathy with anti-mag 10.4
28 hypertelorism 10.3
29 epilepsy 10.3
30 congenital hypomyelination neuropathy 10.2 PMP22 MPZ
31 charcot-marie-tooth hereditary neuropathy 10.2 PMP22 MPZ
32 foot drop 10.2 PMP22 MPZ
33 cauda equina syndrome 10.2 PMP22 EGR2
34 charcot-marie-tooth disease, axonal, type 2q 10.2 MPZ EGR2
35 charcot-marie-tooth disease, axonal, type 2j 10.1 MPZ KIF1B
36 charcot-marie-tooth disease, axonal, type 2i 10.1 MPZ KIF1B
37 chronic inflammatory demyelinating polyradiculoneuropathy 10.1 PMP22 MPZ
38 brachial plexus neuropathy 10.1 PMP22 KIF1B
39 polyradiculoneuropathy 10.1 PMP22 MPZ
40 colorectal adenoma 10.1
41 hepatosplenic t-cell lymphoma 10.1
42 autism 10.1
43 autoimmune peripheral neuropathy 10.1 MPZ GJB1
44 pelizaeus-merzbacher disease 10.1 PMP22 MPZ
45 charcot-marie-tooth disease, demyelinating, type 1f 10.1 PMP22 MPZ GJB1
46 charcot-marie-tooth disease, x-linked dominant, 1 10.1 PMP22 MPZ GJB1
47 charcot-marie-tooth disease, axonal, type 2l 10.1 MPZ KIF1B
48 neuritis 10.1 PMP22 MPZ
49 spinal muscular atrophy 10.1
50 human immunodeficiency virus infectious disease 10.1

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



Diseases related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
foot deformities
hammer toes

Skeletal Spine:
kyphoscoliosis may occur

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Hands:
claw hand deformities (in severe cases)


Clinical features from OMIM:

118220

Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
2 gait imbalance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002141
3 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
4 decreased motor nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003431
5 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
6 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
7 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
8 calf muscle hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008981
9 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
10 sensory ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0010871
11 spontaneous pain sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0010833
12 diaphragmatic weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009113
13 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
14 hyperactive deep tendon reflexes 59 32 very rare (1%) Very rare (<4-1%) HP:0006801
15 decreased sensory nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003448
16 shoulder pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030834
17 acute demyelinating polyneuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007131
18 gait disturbance 59 Frequent (79-30%)
19 hearing impairment 32 HP:0000365
20 peripheral neuropathy 32 HP:0009830
21 impaired proprioception 32 HP:0010831
22 impaired pain sensation 32 HP:0007328
23 areflexia 32 HP:0001284
24 split hand 32 HP:0001171
25 foot dorsiflexor weakness 32 HP:0009027
26 limb muscle weakness 32 HP:0003690
27 hammertoe 32 HP:0001765
28 steppage gait 32 HP:0003376
29 demyelinating peripheral neuropathy 59 Frequent (79-30%)
30 impaired vibratory sensation 32 HP:0002495
31 distal amyotrophy 32 HP:0003693
32 segmental peripheral demyelination/remyelination 32 HP:0003481
33 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
34 hypertrophic nerve changes 32 HP:0003382
35 impaired temperature sensation 32 HP:0010829
36 onion bulb formation 32 HP:0003383
37 cold-induced muscle cramps 32 HP:0003449
38 abnormal motor neuron morphology 32 HP:0002450
39 ulnar claw 32 HP:0001178
40 myelin outfoldings 32 HP:0004336

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
2 growth/size/body region MP:0005378 9.97 COX10 EGR2 GJB1 KIF1B MFN2 MTMR2
3 homeostasis/metabolism MP:0005376 9.97 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
4 cellular MP:0005384 9.95 COX10 EGR2 GDAP1 GJB1 MFN2 MPZ
5 mortality/aging MP:0010768 9.81 COX10 EGR2 GJB1 KIF1B MFN2 MPZ
6 limbs/digits/tail MP:0005371 9.65 EGR2 GDAP1 KIF1B MTMR2 PMP22
7 muscle MP:0005369 9.35 COX10 KIF1B MFN2 NTF3 PMP22
8 nervous system MP:0003631 9.32 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2

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

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin C Approved, Nutraceutical Phase 2, Phase 3,Phase 3 50-81-7 5785 54670067
2 4-des-dimethylaminotetracycline Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
3 Pharmaceutical Solutions Phase 3
4 Antioxidants Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 Vitamins Phase 2, Phase 3
8 Protective Agents Phase 2, Phase 3
9 HIV Protease Inhibitors Not Applicable
10
protease inhibitors Not Applicable
11 Matrix Metalloproteinase Inhibitors Not Applicable

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A) Unknown status NCT01289704 Phase 2, Phase 3
2 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
3 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3 PXT3003
4 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
5 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Unknown status NCT02967679 Phase 1, Phase 2 MD1003
6 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
7 Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
8 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
9 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
10 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
11 Driving Ability in Patients With CMT 1A Completed NCT02357355 Not Applicable
12 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191 Not Applicable
13 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
14 Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care Not yet recruiting NCT03715283 Not Applicable
15 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300
16 Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC) Completed NCT03460951
17 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Active, not recruiting NCT03386266
18 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
19 Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy Recruiting NCT03278093
20 A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) Not yet recruiting NCT03810508

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

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type Ia 29 PMP22

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

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

41
Skeletal Muscle, Testes, T Cells

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

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

# Title Authors Year
1
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. ( 15703401 )
2005
2
Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test. ( 9474023 )
1998
3
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. ( 1978559 )
1990

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

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

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 PMP22 p.Leu16Pro VAR_006360 rs104894617
2 PMP22 p.Ser72Leu VAR_006363 rs104894621
3 PMP22 p.Ser79Cys VAR_006367 rs104894618
4 PMP22 p.Leu105Arg VAR_006373
5 PMP22 p.Gly107Val VAR_006374
6 PMP22 p.Thr118Met VAR_006375 rs104894619
7 PMP22 p.Leu147Arg VAR_006377
8 PMP22 p.Asp37Val VAR_009660 rs104894627
9 PMP22 p.Gly93Arg VAR_009662 rs778693173
10 PMP22 p.Ser22Phe VAR_029960 rs104894625
11 PMP22 p.Val65Phe VAR_029964

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

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.4-MB DUP duplication Pathogenic
2 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh37 Chromosome 17, 15163998: 15163998
3 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs786205112 GRCh37 Chromosome 17, 15142826: 15142826
4 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs786205112 GRCh38 Chromosome 17, 15239509: 15239509
5 PMP22 PMP22, 1.4-MB TRIPLICATION undetermined variant Pathogenic
6 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh37 Chromosome 17, 15142872: 15142872
7 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh38 Chromosome 17, 15239555: 15239555
8 PMP22 NM_000304.3(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh38 Chromosome 17, 15231073: 15231073
9 PMP22 NM_000304.3(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh37 Chromosome 17, 15134390: 15134390
10 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh37 Chromosome 17, 15134283: 15134283
11 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh38 Chromosome 17, 15230966: 15230966
12 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh38 Chromosome 17, 15260663: 15260663
13 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
14 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
15 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
16 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh38 Chromosome 17, 15231047: 15231047
17 PMP22 NM_000304.3(PMP22): c.353C> T (p.Thr118Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894619 GRCh37 Chromosome 17, 15134364: 15134364
18 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh38 Chromosome 17, 15239554: 15239554
19 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh37 Chromosome 17, 15142871: 15142871
20 PMP22 NM_000304.3(PMP22): c.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh38 Chromosome 17, 15260681: 15260681

Expression for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

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

Pathways for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

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

# Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 KIF1B MTMR2 NTF3

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.37 GDAP1 MFN2
2 mitochondrial fission GO:0000266 9.32 COX10 GDAP1
3 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
4 myelin assembly GO:0032288 9.16 MTMR2 PMP22
5 myelination GO:0042552 9.13 EGR2 MPZ PMP22
6 peripheral nervous system development GO:0007422 8.8 EGR2 NTF3 PMP22

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

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17 ExPASy
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74 UMLS via Orphanet
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