MCID: HRD088
MIFTS: 31

Hereditary Neuropathies malady

Neuronal diseases category

Summaries for Hereditary Neuropathies

About this section
Sources:
43NINDS, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NINDS:43 Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands; or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some people may have foot deformities such as high arches and hammer toes, thin calf muscles (having the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent at birth or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by blood tests for genetic testing, nerve conduction studies, and nerve biopsies.

MalaCards: Hereditary Neuropathies, also known as neuropathy - hereditary, is related to neuropathy and hereditary neuropathy with liability to pressure palsies. An important gene associated with Hereditary Neuropathies is PMP22 (peripheral myelin protein 22), and among its related pathways are Neural Crest Differentiation and Glial Cell Differentiation. The compounds 2,3-cyclic nucleotide and glatiramer acetate have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are vision/eye and growth/size.

Aliases & Classifications for Hereditary Neuropathies

About this section
Sources:
43NINDS, 44Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

hereditary neuropathies 43
neuropathy - hereditary 43
hereditary neuropathy 44


Related Diseases for Hereditary Neuropathies

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Hereditary Neuropathies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.6PABPN1, LMNA, GJB1, SH3TC2, PRX, MTMR2
2hereditary neuropathy with liability to pressure palsies31.5PMP22
3charcot-marie-tooth disease30.8MPZ, PMP22
4tooth disease30.7PMP22, MPZ, GJB1
5peripheral neuropathy30.6NDRG1
6polyneuropathy30.3PRX, GJB1, PMP22, NDRG1, MAG, MPZ
7brachial plexus neuropathy30.2PMP22, MPZ
8charcot-marie-tooth neuropathy type 130.2PMP22, MPZ
9motor peripheral neuropathy30.2PMP22, MPZ
10hereditary neuralgic amyotrophy30.2SEPT9
11charcot-marie-tooth neuropathy type 229.8MPZ, LMNA
12charcot-marie-tooth disease type 4e29.8PMP22, MPZ
13pelizaeus-merzbacher disease29.8PLP1, MPZ
14chronic inflammatory demyelinating polyradiculoneuropathy29.8PMP22, MPZ
15charcot-marie-tooth disease type 329.8GJB1, MPZ, PMP22
16polyradiculoneuropathy29.8PMP22
17diabetic neuropathy29.8PMP22, MPZ
18muscular dystrophy29.8RAG1, PABPN1, LMNA
19myopathy29.8LMNA, GJB1, PRX, PABPN1, PGAM2, SH3TC2
20charcot-marie-tooth hereditary neuropathy10.6
21autonomic neuropathy10.4
22neuropathy hereditary sensory and autonomic type 110.3
23hereditary sensory and autonomic neuropathy type ii10.3
24neuropathy, hereditary motor and sensory, russe type10.3
25neuropathy, hereditary motor and sensory, okinawa type10.2
26hereditary neuropathy with liability to pressure palsy10.2
27hereditary thermosensitive neuropathy10.2
28lateral sclerosis10.1
29carpal tunnel syndrome10.1
30amyotrophic lateral sclerosis10.1
31radial neuropathy10.1
32neuropathy, hereditary motor and sensory, lom type10.1
33axonal neuropathy10.1
34peroneal neuropathy10.1
35dnmt1-related dementia, deafness, and sensory neuropathy10.1
36cowchock syndrome10.1
37hereditary motor and sensory neuropathy vi10.1
38hereditary sensory and autonomic neuropathy type ic10.1
39hereditary sensory and autonomic neuropathy type iib10.1
40neuropathy, hereditary sensory, type iic10.1
41neuropathy, hereditary sensory, type ib10.1
42neuropathy, hereditary sensory and autonomic, type vii10.1
43neuropathy, hereditary sensory, with spastic paraplegia10.1
44neuropathy, hereditary sensory and autonomic, type ia10.1
45charcot-marie-tooth disease, dominant intermediate b10.1
46leukodystrophy10.0PLP1
47neuritis10.0MPZ, PMP22
48melas syndrome10.0MT-ND6
49opa3-related 3-methylglutaconic aciduria10.0MT-ND4
50charcot-marie-tooth neuropathy type 1a10.0MPZ, PMP22

Graphical network of the top 20 diseases related to Hereditary Neuropathies:



Diseases related to hereditary neuropathies

Clinical Features for Hereditary Neuropathies

About this section

Drugs & Therapeutics for Hereditary Neuropathies

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hereditary Neuropathies

Drug clinical trials:

Search ClinicalTrials for Hereditary Neuropathies

Search NIH Clinical Center for Hereditary Neuropathies

Search CenterWatch for Hereditary Neuropathies

Genetic Tests for Hereditary Neuropathies

About this section

Anatomical Context for Hereditary Neuropathies

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Neuropathies:

32
Testes

Animal Models for Hereditary Neuropathies or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hereditary Neuropathies:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.4MT-ND6, GJB1, PLP1, LMNA, RAG1, NDRG1
2MP:00053788.7RAG1, LMNA, PLP1, GJB1, PRX, MTMR2
3MP:00053868.4COX10, NDRG1, MPZ, MTMR2, PRX, SH3TC2
4MP:00036318.3GJB1, MAG, RAG1, LMNA, PLP1, SH3TC2

Publications for Hereditary Neuropathies

About this section

Genetic Variations for Hereditary Neuropathies

About this section

Expression for genes affiliated with Hereditary Neuropathies

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hereditary Neuropathies

Search GEO for disease gene expression data for Hereditary Neuropathies.

Pathways for genes affiliated with Hereditary Neuropathies

About this section
Sources:
37NCBI BioSystems Database
See all sources

Pathways related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2GJB1, MPZ
210.1PLP1, MAG

Compounds for genes affiliated with Hereditary Neuropathies

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Hereditary Neuropathies according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
12,3-cyclic nucleotide4410.2PLP1, MAG, MPZ
2glatiramer acetate44 1111.2PLP1, MPZ
3sulfatide4410.2PLP1, MAG, MPZ
4ganglioside4410.1MAG, MPZ, PMP22
5dihydroprogesterone449.9MPZ, PMP22
6methionine449.7MPZ, MT-ND6, MT-ND1, PLP1
7arginine449.7PMP22, MPZ, GJB1, PLP1, LMNA, PABPN1
8nadh44 11 2411.6MT-ND6, MT-ND1, MT-ND4, RAG1
9cysteine449.5PMP22, NDRG1, MPZ, MAG, GJB1, PLP1
10alanine449.4MT-ND6, MT-ND1, MAG, LMNA, RAG1, PABPN1
11serine449.2PMP22, NDRG1, MPZ, MT-ND6, MT-ND1, MAG

GO Terms for genes affiliated with Hereditary Neuropathies

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:04320910.2PLP1, MPZ

Biological processes related to Hereditary Neuropathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelin assemblyGO:03228810.2MTMR2, PMP22
2axon ensheathmentGO:00836610.0PLP1, PRX
3peripheral nervous system myelin maintenanceGO:0322879.8SH3TC2, NDRG1

Products for genes affiliated with Hereditary Neuropathies

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Neuropathies

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet