MCID: INH006
MIFTS: 22

Inherited Peripheral Neuropathy malady

Rare diseases, Neuronal diseases categories

Summaries for Inherited Peripheral Neuropathy

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34MalaCards
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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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44NIH Rare Diseases, 63UMLS, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

inherited peripheral neuropathy 44 63
hereditary peripheral neuropathy 46


Related Diseases for Inherited Peripheral Neuropathy

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Inherited Peripheral Neuropathy

Drug clinical trials:

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Search NIH Clinical Center for Inherited Peripheral Neuropathy

Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Inherited Peripheral Neuropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1GJB1, PMP22

Publications for Inherited Peripheral Neuropathy

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53PubMed
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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, 16Gene 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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Sources:
51PathCards, 39NCBI 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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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Inherited Peripheral Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gaba469.2GJB1, PMP22
2forskolin46 52 1211.2GJB1, PMP22
3progesterone46 30 62 25 1213.1GJB1, PMP22
4cysteine469.1GJB1, PMP22
5arginine469.0PMP22, GJB1
6retinoic acid46 259.8GJB1, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet