HNPP
MCID: HRD054
MIFTS: 32

Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Hereditary Neuropathy with Liability to Pressure Palsy

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Hereditary Neuropathy with Liability to Pressure Palsy, also known as hereditary liability to pressure palsies, is related to hereditary neuropathy with liability to pressure palsies and hereditary neuropathies. 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:65 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

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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary neuropathy with liability to pressure palsy 43
hereditary liability to pressure palsies 62
polyneuropathy, familial recurrent 43
tomaculous neuropathy 43
hnpp 43


Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsy

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Neuropathy with Liability to Pressure Palsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathy with liability to pressure palsies32.5PMP22
2hereditary neuropathies32.4PMP22, MPZ
3neuropathy32.3PMP22, MPZ
4tooth disease31.5MPZ, PMP22
5charcot-marie-tooth disease31.5PMP22, MPZ
6polyneuropathy30.9PMP22, MPZ
7pelizaeus-merzbacher disease30.8MPZ
8polyradiculoneuropathy30.8PMP22
9chronic inflammatory demyelinating polyradiculoneuropathy30.7PMP22, MPZ
10brachial plexus neuropathy30.7MPZ, PMP22
11charcot-marie-tooth disease type 1a10.9
12carpal tunnel syndrome10.7
13hereditary neuralgic amyotrophy10.7
14lateral sclerosis10.6
15amyotrophic lateral sclerosis10.6
16foot drop10.6
17oculopharyngeal muscular dystrophy10.5
18bell's palsy10.5
19charcot-marie-tooth disease type 110.5
20diabetes mellitus10.5
21influenza10.5
22mononeuropathy10.5
23muscular dystrophy10.5
24peripheral neuropathy10.5
25myoclonus10.5
26neuropathy, recurrent, with pressure palsies10.5
27motor peripheral neuropathy10.0PMP22, MPZ
28charcot-marie-tooth neuropathy type 1a10.0PMP22, MPZ
29charcot-marie-tooth disease type 4e10.0PMP22, MPZ
30inherited peripheral neuropathy10.0PMP22, MPZ
31charcot-marie-tooth disease type 310.0PMP22, MPZ
32charcot-marie-tooth neuropathy type 110.0PMP22, MPZ
33guillain-barre syndrome10.0PMP22, MPZ
34diabetic neuropathy10.0PMP22, MPZ
35neuritis10.0PMP22, MPZ
36sensory peripheral neuropathy10.0MPZ, PMP22
37sciatic neuropathy10.0
38demyelinating polyneuropathy10.0
39radial neuropathy10.0
40myopathy10.0PMP22, MPZ
41neurilemmoma10.0PMP22, MPZ

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

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Drugs & Therapeutics for Hereditary Neuropathy with Liability to Pressure Palsy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hereditary Neuropathy with Liability to Pressure Palsy

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Anatomical Context for Hereditary Neuropathy with Liability to Pressure Palsy

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33MalaCards
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MalaCards organs/tissues related to Hereditary Neuropathy with Liability to Pressure Palsy:

33
Testes

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

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Publications for Hereditary Neuropathy with Liability to Pressure Palsy

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52PubMed
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Articles related to Hereditary Neuropathy with Liability to Pressure Palsy:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. (23965407)
2013
2
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
3
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. (24080438)
2013
4
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
5
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
6
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
7
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. (22953141)
2012
8
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. (22190321)
2012
9
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. (19437170)
2010
10
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
11
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
12
Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. (17922888)
2008
13
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves. (16969831)
2007
14
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (17707409)
2007
15
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies. (17222096)
2007
16
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
17
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
18
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
19
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
20
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. (15988805)
2005
21
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. (15031668)
2004
22
Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. (15489403)
2004
23
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
24
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
25
Hereditary neuropathy with liability to pressure palsies mimicking hypoglossal nerve injuries. (14638986)
2003
26
Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies. (12210462)
2002
27
Flail arms in a parachutist: an unusual presentation of hereditary neuropathy with liability to pressure palsies. (12453844)
2002
28
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. (11376203)
2001
29
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. (11369192)
2001
30
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. (11439387)
2001
31
Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. (10671122)
2000
32
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. (10734269)
2000
33
Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies. (11054147)
2000
34
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
35
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)
1997
36
Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. (9208274)
1997
37
Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. (8894410)
1996
38
Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. (8936351)
1996
39
Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies. (8618572)
1996
40
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
41
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). (8557256)
1996
42
Hereditary neuropathy with liability to pressure palsies: assocation with central nervous system demyelination. (8609929)
1996
43
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. (7630211)
1995
44
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. (7643137)
1995
45
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. (7944298)
1994
46
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. (8112739)
1994
47
A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis]. (7955724)
1994
48
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. (8422677)
1993
49
Visual and somatosensory evoked potentials and F-wave latency measurements in hereditary neuropathy with liability to pressure palsies. (6174708)
1982
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

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Neuropathy with Liability to Pressure Palsy:

1
id Gene Name 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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

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

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50PathCards, 38NCBI BioSystems Database
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Pathways related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards/GeneDecks:

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

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

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45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone459.3MPZ, PMP22
2ganglioside459.3MPZ, PMP22
3dihydrotestosterone45 29 24 1112.2MPZ, PMP22
4aspartate459.2MPZ, PMP22
5progesterone45 29 61 24 1113.1PMP22, MPZ
6cysteine459.1MPZ, PMP22
7steroid459.0MPZ, PMP22
8arginine458.8MPZ, PMP22

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

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16Gene Ontology
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Biological processes related to Hereditary Neuropathy with Liability to Pressure Palsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.1MPZ, PMP22

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Neuropathy with Liability to Pressure Palsy

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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