MCID: CHR130
MIFTS: 29

Charcot-Marie-Tooth Disease Type 1b malady

Neuronal category

Summaries for Charcot-Marie-Tooth Disease Type 1b

Sources:
47OMIM, 33MalaCards
See all sources

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MalaCards: Charcot-Marie-Tooth Disease Type 1b, also known as charcot marie tooth disease type 1b, is related to tooth disease and charcot-marie-tooth neuropathy type 1. An important gene associated with Charcot-Marie-Tooth Disease Type 1b is MPZ (myelin protein zero), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and dihydrotestosterone have been mentioned in the context of this disorder.

Description from OMIM:47 118200

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 1b

Sources:
43NIH Rare Diseases, 49Orphanet, 22GTR, 47OMIM, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
charcot-marie-tooth disease type 1b:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

charcot-marie-tooth disease type 1b 43 49
charcot marie tooth disease type 1b 43 22
charcot-marie-tooth disease, demyelinating, type 1b 43
hereditary motor and sensory neuropathy 1b 43
charcot-marie-tooth disease, type 1b 47
charcot-marie-tooth disease, type ib 61
hmsn 1b 43
cmt 1b 43
cmt1b 49


External Ids:

OMIM47 118200
ICD10 via Orphanet26 G60.0
SNOMED-CT via Orphanet58 42986003
UMLS via Orphanet62 C0270912

Related Diseases for Charcot-Marie-Tooth Disease Type 1b

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the charcot-marie-tooth disease family:

charcot-marie-tooth disease type 2 charcot-marie-tooth disease type 1
charcot-marie-tooth disease type x charcot-marie-tooth disease intermediate type
charcot-marie-tooth disease type 4 charcot-marie-tooth disease type 3
charcot-marie-tooth neuropathy type 1 charcot-marie-tooth neuropathy type 2
charcot-marie-tooth neuropathy type 2a charcot-marie-tooth neuropathy type 2e/1f
charcot-marie-tooth neuropathy type 4 charcot-marie-tooth neuropathy type 4a
charcot-marie-tooth neuropathy type 4c charcot-marie-tooth neuropathy type 4h
charcot-marie-tooth neuropathy type 4j charcot-marie-tooth neuropathy x type 1
charcot-marie-tooth neuropathy x type 5 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 1a charcot-marie-tooth disease type 1b
charcot-marie-tooth disease type 1c charcot-marie-tooth disease type 1d
charcot-marie-tooth disease type 1e charcot-marie-tooth disease type 1f
charcot-marie-tooth disease type 2a charcot-marie-tooth disease type 2b
charcot-marie-tooth disease type 2b1 charcot-marie-tooth disease type 2b2
charcot-marie-tooth disease type 2c charcot-marie-tooth disease type 2d
charcot-marie-tooth disease type 2e charcot-marie-tooth disease type 2f
charcot-marie-tooth disease type 2g charcot-marie-tooth disease type 2h
charcot-marie-tooth disease type 2i charcot-marie-tooth disease type 2j
charcot-marie-tooth disease type 2k charcot-marie-tooth disease type 4b1
charcot-marie-tooth disease type 4b2 charcot-marie-tooth disease type 4b2 with early-onset glaucoma
charcot-marie-tooth disease type 4e charcot-marie-tooth disease with ptosis and parkinsonism
charcot-marie-tooth disease with pyramidal features, autosomal dominant charcot-marie-tooth neuropathy x
intermediate charcot-marie-tooth neuropathy charcot-marie-tooth neuropathy multi-gene panels
charcot-marie-tooth neuropathy type 1e charcot-marie-tooth neuropathy type 4b2
charcot-marie-tooth neuropathy type 2b2 charcot-marie-tooth neuropathy type 2b1
charcot-marie-tooth neuropathy type 2g charcot-marie-tooth neuropathy type 2l
charcot-marie-tooth neuropathy type 2i/2j charcot-marie-tooth neuropathy type 2h/2k
charcot-marie-tooth neuropathy x type 2 charcot-marie-tooth neuropathy x type 3
charcot-marie-tooth neuropathy x type 4 charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2d charcot-marie-tooth neuropathy type 2o
charcot-marie-tooth neuropathy type 2p charcot-marie-tooth neuropathy type 4b3
charcot-marie-tooth neuropathy type 1b charcot-marie-tooth neuropathy type 1c
charcot-marie-tooth neuropathy type 2a2 charcot-marie-tooth neuropathy type 2b
charcot-marie-tooth neuropathy type 2c charcot-marie-tooth neuropathy type 4b1
charcot-marie-tooth neuropathy type 4d charcot-marie-tooth neuropathy type 4e
charcot-marie-tooth neuropathy type 4f charcot-marie-tooth neuropathy type 1a
charcot-marie-tooth neuropathy type 1d 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 2r
charcot-marie-tooth disease, recessive intermediate, a charcot-marie-tooth disease, dominant intermediate a
charcot-marie-tooth disease, recessive intermediate, b charcot-marie-tooth disease, dominant intermediate b
charcot-marie-tooth disease, type 4f charcot-marie-tooth disease, type 4b3

Diseases related to Charcot-Marie-Tooth Disease Type 1b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1tooth disease31.6PMP22, MPZ
2charcot-marie-tooth neuropathy type 130.6MPZ, PMP22
3charcot-marie-tooth neuropathy type 1b10.5
4neurofibromatosis10.5
5charcot-marie-tooth disease type 1a10.0
6charcot-marie-tooth disease type 1c10.0
7charcot-marie-tooth disease type 1d10.0
8charcot-marie-tooth disease type 2b110.0
9charcot-marie-tooth disease type 2b210.0
10charcot-marie-tooth disease with pyramidal features, autosomal dominant10.0
11charcot-marie-tooth disease, type 2a110.0
12charcot-marie-tooth disease, type 2a210.0
13charcot-marie-tooth neuropathy, x-linked dominant, 110.0
14pelizaeus-merzbacher disease10.0MPZ
15hereditary neuropathy with liability to pressure palsies10.0PMP22
16polyradiculoneuropathy10.0PMP22
17encephalomyelitis10.0MPZ
18motor peripheral neuropathy10.0MPZ, PMP22
19charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22
20charcot-marie-tooth disease type 4e10.0PMP22, MPZ
21chronic inflammatory demyelinating polyradiculoneuropathy10.0PMP22, MPZ
22charcot-marie-tooth disease type 310.0MPZ, PMP22
23brachial plexus neuropathy10.0MPZ, PMP22
24hereditary neuropathies10.0MPZ, PMP22
25diabetic neuropathy10.0MPZ, PMP22
26sensory peripheral neuropathy10.0PMP22, MPZ
27neurilemmoma10.0MPZ, PMP22
28guillain-barre syndrome10.0MPZ, PMP22
29neuritis10.0MPZ, PMP22
30charcot-marie-tooth disease10.0MPZ, PMP22
31polyneuropathy10.0PMP22, MPZ

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



Diseases related to charcot-marie-tooth disease type 1b

Clinical Features for Charcot-Marie-Tooth Disease Type 1b

Sources:
47OMIM
See all sources

Clinical features from OMIM:

118200

Clinical synopsis from OMIM:

118200

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 1b

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1b

Drug clinical trials:

Search ClinicalTrials for Charcot-Marie-Tooth Disease Type 1b

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

Search CenterWatch for Charcot-Marie-Tooth Disease Type 1b

Genetic Tests for Charcot-Marie-Tooth Disease Type 1b

Sources:
22GTR
See all sources

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

id Genetic test Affiliating Genes
1 Charcot-marie-tooth Disease, Type Ib22

Anatomical Context for Charcot-Marie-Tooth Disease Type 1b

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

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Charcot-Marie-Tooth Disease Type 1b

Genetic Variations for Charcot-Marie-Tooth Disease Type 1b

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Charcot-Marie-Tooth Disease Type 1b:

63 (show all 53)
id Symbol AA change Variation SNP ID
1MPZp.Ile30MetVAR_004500
2MPZp.Val32PheVAR_004501
3MPZp.Thr34IleVAR_004502
4MPZp.Ser44PheVAR_004503
5MPZp.Ser54CysVAR_004504
6MPZp.Ser54ProVAR_004505
7MPZp.Val58PheVAR_004506
8MPZp.Ser63PheVAR_004509
9MPZp.Tyr68CysVAR_004511
10MPZp.Ser78LeuVAR_004512
11MPZp.His81ArgVAR_004513
12MPZp.Tyr82CysVAR_004514
13MPZp.Asp90GluVAR_004515
14MPZp.Gly93GluVAR_004516
15MPZp.Lys96GluVAR_004517
16MPZp.Arg98CysVAR_004518
17MPZp.Arg98HisVAR_004519
18MPZp.Arg98ProVAR_004520
19MPZp.Arg98SerVAR_004521
20MPZp.Ile99ThrVAR_004522
21MPZp.Trp101CysVAR_004523
22MPZp.Ile112ThrVAR_004524
23MPZp.Asn122SerVAR_004528
24MPZp.Thr124MetVAR_004529
25MPZp.Asp128GluVAR_004532
26MPZp.Lys130ArgVAR_004534
27MPZp.Pro132LeuVAR_004535
28MPZp.Asp134GluVAR_004536
29MPZp.Asp134AsnVAR_004537
30MPZp.Ile135LeuVAR_004538
31MPZp.Ile135ThrVAR_004539
32MPZp.Gly137SerVAR_004540
33MPZp.Thr143MetVAR_004541
34MPZp.Gly163ArgVAR_004542
35MPZp.Gly167AlaVAR_004543
36MPZp.Ile62PheVAR_015972
37MPZp.Gly103GluVAR_015976
38MPZp.Gly123CysVAR_015977
39MPZp.Ser51PheVAR_029971
40MPZp.Thr65IleVAR_029974
41MPZp.Asp134GlyVAR_029979
42MPZp.Lys138AsnVAR_029980
43MPZp.Thr139AsnVAR_029981
44MPZp.Ser140ThrVAR_029982
45MPZp.Tyr145SerVAR_029983
46MPZp.Val146PheVAR_029984
47MPZp.Leu170ArgVAR_029985
48MPZp.Thr65AlaVAR_031886
49MPZp.Ser78TrpVAR_031887
50MPZp.Asp109AsnVAR_031889
51MPZp.His39ProVAR_054393
52MPZp.Asp224TyrVAR_054397
53MPZp.Arg227SerVAR_054398

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Charcot-Marie-Tooth Disease Type 1b

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

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

Sources:
38NCBI BioSystems Database
See all sources

Pathways related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

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

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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone459.3MPZ, PMP22
2dihydrotestosterone45 29 11 2412.3MPZ, PMP22
3ganglioside459.2MPZ, PMP22
4cysteine458.2CHM, MPZ, PMP22

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

Sources:
16Gene Ontology
See all sources

Biological processes related to Charcot-Marie-Tooth Disease Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.3MPZ, PMP22

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Charcot-Marie-Tooth Disease Type 1b

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet