MCID: HRD054
MIFTS: 28

Hereditary Neuropathy with Liability to Pressure Palsy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Hereditary Neuropathy with Liability to Pressure Palsy

About this section


NIH Rare Diseases:41 Hereditary neuropathy with liability to pressure palsy (hnpp) is a disorder that affects peripheral nerves. this condition causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). an episode can last from several minutes to several months, but recovery is usually complete. repeated incidents, however, can cause permanent muscle weakness or loss of sensation. the most common problem sites involve nerves in wrists, elbows, and knees. symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. this condition is caused by the loss of one copy of the pmp22 gene or alterations within the gene. last updated: 7/23/2009

MalaCards based summary: Hereditary Neuropathy with Liability to Pressure Palsy, also known as hereditary neuropathy with liability to pressure palsies, is related to hereditary neuropathies and neuropathy, recurrent, with pressure palsies. An important gene associated with Hereditary Neuropathy with Liability to Pressure Palsy is PMP22 (peripheral myelin protein 22), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and ganglioside have been mentioned in the context of this disorder. Affiliated tissues include testes.

Wikipedia:63 Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy (disorder of... more...

Aliases & Classifications for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Hereditary Neuropathy with Liability to Pressure Palsy, Aliases & Descriptions:

Name: Hereditary Neuropathy with Liability to Pressure Palsy 41
Hereditary Neuropathy with Liability to Pressure Palsies 41
Hereditary Liability to Pressure Palsies 60
Current Pressure-Sensitive Neuropathy 41
Heterozygous Microdeletion 17p11.2p12 41
 
Polyneuropathy, Familial Recurrent 41
Tulip-Bulb Diggers Palsy 41
Tomaculous Neuropathy 41
Potato-Grubbing Palsy 41
Hnpp 41


Classifications:

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


Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Graphical network of the top 20 diseases related to Hereditary Neuropathy with Liability to Pressure Palsy:



Diseases related to hereditary neuropathy with liability to pressure palsy

Symptoms for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Drugs & Therapeutics for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Drug clinical trials:

Search ClinicalTrials for Hereditary Neuropathy with Liability to Pressure Palsy

Search NIH Clinical Center for Hereditary Neuropathy with Liability to Pressure Palsy

Genetic Tests for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Anatomical Context for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

MalaCards organs/tissues related to Hereditary Neuropathy with Liability to Pressure Palsy:

31
Testes

Animal Models for Hereditary Neuropathy with Liability to Pressure Palsy or affiliated genes

About this section

Publications for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Articles related to Hereditary Neuropathy with Liability to Pressure Palsy:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy. (25685136)
2014
2
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. (25326571)
2014
3
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. (24752454)
2014
4
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. (23965407)
2013
5
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
6
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. (24080438)
2013
7
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
8
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
9
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
10
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
11
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. (22953141)
2012
12
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. (22190321)
2012
13
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. (19437170)
2010
14
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
15
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
16
Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. (17922888)
2008
17
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves. (16969831)
2007
18
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
19
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
20
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
21
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies. (15955700)
2005
22
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. (15031668)
2004
23
Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. (15489403)
2004
24
Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease. (12491936)
2003
25
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye. (14555828)
2003
26
Hereditary neuropathy with liability to pressure palsies mimicking hypoglossal nerve injuries. (14638986)
2003
27
Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies. (12210462)
2002
28
Flail arms in a parachutist: an unusual presentation of hereditary neuropathy with liability to pressure palsies. (12453844)
2002
29
Hereditary neuropathy with liability to pressure palsies: a case report. (11302321)
2001
30
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. (11376203)
2001
31
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. (11369192)
2001
32
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. (11439387)
2001
33
Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. (10671122)
2000
34
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. (10734269)
2000
35
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. (9409359)
1997
36
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)
1997
37
Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. (9208274)
1997
38
Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. (8894410)
1996
39
Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. (8936351)
1996
40
Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies. (8618572)
1996
41
Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. (8937360)
1996
42
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). (8557256)
1996
43
Hereditary neuropathy with liability to pressure palsies: assocation with central nervous system demyelination. (8609929)
1996
44
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. (7630211)
1995
45
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. (7643137)
1995
46
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. (7944298)
1994
47
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. (8112739)
1994
48
A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis]. (7955724)
1994
49
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. (8422677)
1993
50
HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES. (14212604)
1964

Variations for Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Clinvar genetic disease variations for Hereditary Neuropathy with Liability to Pressure Palsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
2PMP22NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs)deletionPathogenicGRCh37Chr 17, 15164025: 15164026
3PMP22NM_000304.3(PMP22): c.199G> A (p.Ala67Thr)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
4PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980

Expression for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

About this section
Search GEO for disease gene expression data for Hereditary Neuropathy with Liability to Pressure Palsy.

Pathways for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Pathways related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards Suite gene sharing:

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

Compounds for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

About this section
Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank, 59Tocris Bioscience
See all sources

Compounds related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone439.3MPZ, PMP22
2ganglioside439.3MPZ, PMP22
3dihydrotestosterone43 28 24 1212.2MPZ, PMP22
4aspartate439.2MPZ, PMP22
5progesterone43 28 59 24 1213.1PMP22, MPZ
6cysteine439.1MPZ, PMP22
7steroid439.0MPZ, PMP22
8arginine438.8MPZ, PMP22

GO Terms for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

About this section

Biological processes related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:00072689.1MPZ, PMP22

Products for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hereditary Neuropathy with Liability to Pressure Palsy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet