HNPP
MCID: HRD025
MIFTS: 36

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Hereditary Neuropathy with Liability to Pressure Palsies

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20GeneReviews, 34MalaCards
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MalaCards: Hereditary Neuropathy with Liability to Pressure Palsies, also known as tomaculous neuropathy, is related to hereditary neuropathies and neuropathy. An important gene associated with Hereditary Neuropathy with Liability to Pressure Palsies is PMP22 (peripheral myelin protein 22), and among its related pathways is Neural Crest Differentiation. The compounds dihydroprogesterone and dihydrotestosterone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotype mortality/aging.

GeneReviews summary for hnpp

Aliases & Classifications for Hereditary Neuropathy with Liability to Pressure Palsies

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66Wikipedia, 20GeneReviews, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary neuropathy with liability to pressure palsies 66 20 21 22
tomaculous neuropathy 66 20 22 46
hnpp 66 20 22
hereditary pressure sensitive neuropathy 20 22
inherited tendency to pressure palsies 66 22
compression neuropathy 66 22
entrapment neuropathy 66 22
hereditary motor and sensory neuropathies 63
hereditary liability to pressure palsies 63
hereditary motor and sensory neuropathy 22
familial pressure-sensitive neuropathy 66
familial pressure sensitive neuropathy 22
entrapment neuropathies 63


Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsies

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18GeneCards, 19GeneDecks
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Diseases related to Hereditary Neuropathy with Liability to Pressure Palsies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 175)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathies32.4PMP22, MPZ, GJB1
2neuropathy32.3PABPN1, GJB1, PMP22, MPZ
3charcot-marie-tooth disease31.6MPZ, PMP22
4tooth disease31.5PMP22, MPZ, GJB1
5hereditary neuralgic amyotrophy31.2SEPT9
6polyneuropathy30.9GJB1, MPZ, PMP22
7motor peripheral neuropathy30.9PMP22, MPZ
8pelizaeus-merzbacher disease30.8MPZ
9polyradiculoneuropathy30.8PMP22
10brachial plexus neuropathy30.8MPZ, PMP22
11charcot-marie-tooth disease type 330.8GJB1, MPZ, PMP22
12chronic inflammatory demyelinating polyradiculoneuropathy30.8PMP22, MPZ
13charcot-marie-tooth neuropathy type 230.5MPZ
14charcot-marie-tooth disease type 4e30.5MPZ, PMP22
15charcot-marie-tooth neuropathy type 130.5MPZ, PMP22
16neuritis30.1PMP22, MPZ
17hereditary neuropathy with liability to pressure palsy11.6
18charcot-marie-tooth disease type 1a10.9
19hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
20hereditary motor and sensory neuropathy vi10.7
21carpal tunnel syndrome10.7
22optic atrophy10.7
23charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
24sensory neuropathy type 110.7
25charcot-marie-tooth disease type 2c10.7
26neuropathy, hereditary motor and sensory, okinawa type10.7
27lateral sclerosis10.6
28amyotrophic lateral sclerosis10.6
29foot drop10.6
30neuropathy, hereditary motor and sensory, russe type10.6
31paraplegia10.5
32neuropathy, hereditary motor and sensory, lom type10.5
33charcot-marie-tooth disease, dominant intermediate b10.5
34oculopharyngeal muscular dystrophy10.5
35bell's palsy10.5
36charcot-marie-tooth disease type 110.5
37diabetes mellitus10.5
38influenza10.5
39mononeuropathy10.5
40muscular dystrophy10.5
41peripheral neuropathy10.5
42myoclonus10.5
43neuropathy, recurrent, with pressure palsies10.5
44hereditary spastic paraplegia10.5
45refsum disease10.5
46glaucoma10.5
47charcot-marie-tooth neuropathy type 4a10.5
48charcot-marie-tooth disease type 1d10.5
49charcot-marie-tooth disease type 2b10.5
50charcot-marie-tooth disease type 2b110.5

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



Diseases related to hereditary neuropathy with liability to pressure palsies

Symptoms for Hereditary Neuropathy with Liability to Pressure Palsies

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Drugs & Therapeutics for Hereditary Neuropathy with Liability to Pressure Palsies

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

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Drug clinical trials:

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Genetic Tests for Hereditary Neuropathy with Liability to Pressure Palsies

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21GeneTests
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Genetic tests related to Hereditary Neuropathy with Liability to Pressure Palsies:

id Genetic test Affiliating Genes
1 Hereditary Neuropathy with Liability to Pressure Palsies21 PMP22

Anatomical Context for Hereditary Neuropathy with Liability to Pressure Palsies

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34MalaCards
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MalaCards organs/tissues related to Hereditary Neuropathy with Liability to Pressure Palsies:

34
Testes

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

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38MGI
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MGI Mouse Phenotypes related to Hereditary Neuropathy with Liability to Pressure Palsies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0GJB1, COX10, SEPT9, MPZ, PMP22

Publications for Hereditary Neuropathy with Liability to Pressure Palsies

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53PubMed
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Articles related to Hereditary Neuropathy with Liability to Pressure Palsies:

(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 Palsies

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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 Palsies:

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 Palsies

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsies

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

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Hereditary Neuropathy with Liability to Pressure Palsies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0GJB1, MPZ, PMP22

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

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Hereditary Neuropathy with Liability to Pressure Palsies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone469.6MPZ, PMP22
2dihydrotestosterone46 30 25 1212.6MPZ, PMP22
3ganglioside469.5PMP22, MPZ
4progesterone46 30 62 25 1212.7GJB1, MPZ, PMP22
5arginine468.1GJB1, PABPN1, MPZ, PMP22

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

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

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  • Antibodies
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  • Antibodies

Sources for Hereditary Neuropathy with Liability to Pressure Palsies

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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