MCID: INH006
MIFTS: 22

Inherited Peripheral Neuropathy malady

Rare diseases, Neuronal diseases categories
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Summaries for Inherited Peripheral Neuropathy

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33MalaCards
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MalaCards: Inherited Peripheral Neuropathy, also known as hereditary peripheral neuropathy, is related to neuropathy and hereditary neuropathy with liability to pressure palsies. An important gene associated with Inherited Peripheral Neuropathy is GJB1 (gap junction protein, beta 1, 32kDa), and among its related pathways is Neural Crest Differentiation. The compounds gaba and forskolin have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Aliases & Classifications for Inherited Peripheral Neuropathy

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43NIH Rare Diseases, 62UMLS, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

inherited peripheral neuropathy 43 62
hereditary peripheral neuropathy 45


Related Diseases for Inherited Peripheral Neuropathy

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Inherited Peripheral Neuropathy:



Diseases related to inherited peripheral neuropathy

Symptoms for Inherited Peripheral Neuropathy

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Drugs & Therapeutics for Inherited Peripheral Neuropathy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Inherited Peripheral Neuropathy

Genetic Tests for Inherited Peripheral Neuropathy

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Anatomical Context for Inherited Peripheral Neuropathy

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Animal Models for Inherited Peripheral Neuropathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Inherited Peripheral Neuropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1GJB1, PMP22

Publications for Inherited Peripheral Neuropathy

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52PubMed
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Articles related to Inherited Peripheral Neuropathy:

(show all 12)
idTitleAuthorsYear
1
Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. (18636082)
2009
2
Small heat shock proteins in inherited peripheral neuropathies. (16203614)
2005
3
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. (15940694)
2005
4
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies. (11496158)
2001
5
Animal models for inherited peripheral neuropathies: chances to find treatment strategies? (10900071)
2000
6
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. (9888385)
1999
7
Inherited peripheral neuropathy. (10716658)
1999
8
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field. (10541586)
1999
9
Animal models for inherited peripheral neuropathies. (9418989)
1997
10
Joint sparing in a rheumatoid arthritis patient with an inherited peripheral neuropathy. (8869228)
1995
11
Genetic basis of inherited peripheral neuropathies. (7515304)
1994
12
Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. (11980069)
1991-1992

Variations for Inherited Peripheral Neuropathy

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Expression for genes affiliated with Inherited Peripheral Neuropathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Inherited Peripheral Neuropathy

Search GEO for disease gene expression data for Inherited Peripheral Neuropathy.

Pathways for genes affiliated with Inherited Peripheral Neuropathy

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50PathCards, 38NCBI BioSystems Database
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Pathways related to Inherited Peripheral Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GJB1, PMP22

Compounds for genes affiliated with Inherited Peripheral Neuropathy

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45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Inherited Peripheral Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gaba459.2GJB1, PMP22
2forskolin45 51 1111.2GJB1, PMP22
3progesterone45 29 61 24 1113.1GJB1, PMP22
4cysteine459.1GJB1, PMP22
5arginine459.0PMP22, GJB1
6retinoic acid45 249.8GJB1, PMP22

GO Terms for genes affiliated with Inherited Peripheral Neuropathy

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Products for genes affiliated with Inherited Peripheral Neuropathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Inherited Peripheral Neuropathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet