MCID: INH006
MIFTS: 22

Inherited Peripheral Neuropathy malady

Rare diseases, Neuronal diseases categories

Summaries for Inherited Peripheral Neuropathy

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MalaCards based summary: 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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Sources:
42NIH Rare Diseases, 61UMLS, 44Novoseek
See all sources

Inherited Peripheral Neuropathy, Aliases & Descriptions:

Name: Inherited Peripheral Neuropathy 42 61
 
Hereditary Peripheral Neuropathy 44 61


Classifications:

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


Related Diseases for Inherited Peripheral Neuropathy

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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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Drug clinical trials:

Search ClinicalTrials for Inherited Peripheral Neuropathy

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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MGI Mouse Phenotypes related to Inherited Peripheral Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1GJB1, PMP22

Publications for Inherited Peripheral Neuropathy

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Articles related to Inherited Peripheral Neuropathy:

(show all 13)
idTitleAuthorsYear
1
Inherited peripheral neuropathies due to mitochondrial disorders. (24768438)
2014
2
Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. (18636082)
2009
3
Small heat shock proteins in inherited peripheral neuropathies. (16203614)
2005
4
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. (15940694)
2005
5
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies. (11496158)
2001
6
Animal models for inherited peripheral neuropathies: chances to find treatment strategies? (10900071)
2000
7
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. (9888385)
1999
8
Inherited peripheral neuropathy. (10716658)
1999
9
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field. (10541586)
1999
10
Animal models for inherited peripheral neuropathies. (9418989)
1997
11
Joint sparing in a rheumatoid arthritis patient with an inherited peripheral neuropathy. (8869228)
1995
12
Genetic basis of inherited peripheral neuropathies. (7515304)
1994
13
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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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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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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Compounds related to Inherited Peripheral Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gaba449.2GJB1, PMP22
2forskolin44 50 1211.2GJB1, PMP22
3progesterone44 29 60 25 1213.1GJB1, PMP22
4cysteine449.1GJB1, PMP22
5arginine449.0PMP22, GJB1
6retinoic acid44 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
  • Proteins
  • Kits and Assays

Sources for Inherited Peripheral Neuropathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet