CMT1A
MCID: CHR627
MIFTS: 48

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle 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
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 testes, and related phenotypes are pes cavus and abnormal motor neuron morphology

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.

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

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

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 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 62)
# Related Disease Score Top Affiliating Genes
1 roussy-levy hereditary areflexic dystasia 32.1 MPZ PMP22
2 charcot-marie-tooth disease, axonal, type 2a1 31.5 KIF1B MFN2
3 hereditary neuropathy with liability to pressure palsy 31.2 MPZ PMP22
4 polyneuropathy 29.8 GDAP1 MPZ PMP22
5 neuropathy 28.4 EGR2 GDAP1 GJB1 MFN2 MPZ PMP22
6 hereditary neuropathies 28.1 GJB1 MFN2 MPZ MTMR2 PMP22
7 neuropathy, hereditary, with liability to pressure palsies 26.5 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
8 tooth disease 26.2 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
9 sensory peripheral neuropathy 26.0 GDAP1 GJB1 MFN2 MPZ MTMR2 NTF3
10 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 25.6 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
11 charcot-marie-tooth disease and deafness 25.4 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
12 charcot-marie-tooth disease 25.3 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
13 neuropathy, hereditary, with or without age-related macular degeneration 10.9
14 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
15 yuan-harel-lupski syndrome 10.9
16 congenital hypomyelination neuropathy 10.6 MPZ PMP22
17 foot drop 10.6 MPZ PMP22
18 cauda equina syndrome 10.5 EGR2 PMP22
19 charcot-marie-tooth disease, axonal, type 2i 10.5 KIF1B MPZ
20 charcot-marie-tooth disease, axonal, type 2q 10.5 EGR2 MPZ
21 charcot-marie-tooth disease, axonal, type 2j 10.5 KIF1B MPZ
22 chronic inflammatory demyelinating polyradiculoneuropathy 10.4 MPZ PMP22
23 polyradiculoneuropathy 10.3 MPZ PMP22
24 charcot-marie-tooth disease, demyelinating, type 1f 10.3 GJB1 MPZ PMP22
25 charcot-marie-tooth disease, axonal, type 2l 10.2 KIF1B MPZ
26 pelizaeus-merzbacher disease 10.2 MPZ PMP22
27 charcot-marie-tooth disease, demyelinating, type 1c 10.2 KIF1B MPZ PMP22
28 charcot-marie-tooth neuropathy type 2a 10.2 KIF1B MFN2
29 amyotrophic neuralgia 10.2 GJB1 KIF1B PMP22
30 charcot-marie-tooth disease type 2a 10.2 KIF1B MFN2
31 brachial plexus neuropathy 10.1 GJB1 KIF1B PMP22
32 charcot-marie-tooth disease, axonal, type 2f 10.1 GJB1 KIF1B MPZ
33 guillain-barre syndrome 10.1 MPZ PMP22
34 charcot-marie-tooth disease, x-linked dominant, 1 10.1 GDAP1 GJB1 MPZ
35 diabetic neuropathy 10.0 MPZ NTF3 PMP22
36 diabetes mellitus 9.9
37 colorectal adenoma 9.9
38 hepatosplenic t-cell lymphoma 9.9
39 neuritis 9.8 MPZ PMP22
40 charcot-marie-tooth neuropathy type 1 9.8 EGR2 GJB1 MPZ PMP22
41 poems syndrome 9.8
42 arthropathy 9.8
43 demyelinating polyneuropathy 9.8
44 chromosome 17p duplication 9.8
45 subacute inflammatory demyelinating polyneuropathy 9.8
46 charcot-marie-tooth disease, demyelinating, type 4f 9.7 GDAP1 MTMR2
47 charcot-marie-tooth disease, type 4b3 9.7 GDAP1 MTMR2
48 axonal neuropathy 9.7 GDAP1 MFN2 PMP22
49 charcot-marie-tooth disease, type 4b2 9.7 GDAP1 MTMR2
50 charcot-marie-tooth disease, type 4b1 9.7 GDAP1 MTMR2

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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 abnormal motor neuron morphology 32 HP:0002450
3 impaired vibratory sensation 32 HP:0002495
4 hypertrophic nerve changes 32 HP:0003382
5 decreased motor nerve conduction velocity 32 HP:0003431
6 impaired pain sensation 32 HP:0007328
7 impaired temperature sensation 32 HP:0010829
8 impaired proprioception 32 HP:0010831
9 hearing impairment 32 HP:0000365
10 split hand 32 HP:0001171
11 ulnar claw 32 HP:0001178
12 hyporeflexia 32 HP:0001265
13 areflexia 32 HP:0001284
14 hammertoe 32 HP:0001765
15 distal muscle weakness 32 HP:0002460
16 kyphoscoliosis 32 HP:0002751
17 distal sensory impairment 32 HP:0002936
18 steppage gait 32 HP:0003376
19 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
20 onion bulb formation 32 HP:0003383
21 cold-induced muscle cramps 32 HP:0003449
22 segmental peripheral demyelination/remyelination 32 HP:0003481
23 limb muscle weakness 32 HP:0003690
24 distal amyotrophy 32 HP:0003693
25 myelin outfoldings 32 HP:0004336
26 foot dorsiflexor weakness 32 HP:0009027
27 peripheral neuropathy 32 HP:0009830

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 GJB1 KIF1B MFN2 MPZ NTF3 PMP22
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 12)
# 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,Not Applicable
3 Antioxidants Phase 2, Phase 3
4 Micronutrients Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 Vitamins Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 3
9
Menthol Approved Not Applicable 2216-51-5 16666
10 HIV Protease Inhibitors Not Applicable
11 Matrix Metalloproteinase Inhibitors Not Applicable
12
protease 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 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);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 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
5 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
6 Ascorbic Acid Treatment in CMT1A Trial (AATIC) Completed NCT00271635 Phase 2 Placebo;ascorbic acid
7 Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
8 SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Recruiting NCT02967679 Phase 1, Phase 2 MD1003
9 Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
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 Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC) Completed NCT03460951
13 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
14 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343 Not Applicable
15 Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 Recruiting NCT01193088
16 Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy Recruiting NCT03278093
17 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Active, not recruiting NCT03386266
18 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Not yet recruiting NCT02596191 Not Applicable
19 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Not yet recruiting NCT03550300
20 Quantification of Nerve Stiffness in Neuropathies Not yet recruiting NCT03397303 Not Applicable

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
Testes

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 18)
# 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.47T> C (p.Leu16Pro) single nucleotide variant Pathogenic rs104894617 GRCh38 Chromosome 17, 15260681: 15260681
4 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh37 Chromosome 17, 15142871: 15142871
5 PMP22 NM_000304.3(PMP22): c.236C> G (p.Ser79Cys) single nucleotide variant Pathogenic rs104894618 GRCh38 Chromosome 17, 15239554: 15239554
6 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
7 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh37 Chromosome 17, 15142826: 15142826
8 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
9 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh38 Chromosome 17, 15260663: 15260663
10 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs786205112 GRCh37 Chromosome 17, 15142826: 15142826
11 PMP22 NM_000304.3(PMP22): c.281delG (p.Gly94Alafs) deletion Pathogenic rs786205112 GRCh38 Chromosome 17, 15239509: 15239509
12 PMP22 PMP22, 1.4-MB TRIPLICATION undetermined variant Pathogenic
13 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh38 Chromosome 17, 15230966: 15230966
14 PMP22 NM_000304.3(PMP22): c.434delT (p.Leu145Argfs) deletion Pathogenic rs863225029 GRCh37 Chromosome 17, 15134283: 15134283
15 PMP22 NM_000304.3(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh37 Chromosome 17, 15134390: 15134390
16 PMP22 NM_000304.3(PMP22): c.327C> A (p.Cys109Ter) single nucleotide variant Pathogenic rs863225028 GRCh38 Chromosome 17, 15231073: 15231073
17 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh38 Chromosome 17, 15239555: 15239555
18 PMP22 NM_000304.3(PMP22): c.235T> A (p.Ser79Thr) single nucleotide variant Likely pathogenic rs863225027 GRCh37 Chromosome 17, 15142872: 15142872

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 9.32 GDAP1 MFN2
2 mitochondrial fission GO:0000266 9.26 COX10 GDAP1
3 mitochondrial fusion GO:0008053 9.16 GDAP1 MFN2
4 myelination GO:0042552 9.13 EGR2 MPZ PMP22
5 peripheral nervous system development GO:0007422 8.8 EGR2 NTF3 PMP22

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....