HNPP
MCID: HRD025
MIFTS: 39

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Hereditary Neuropathy with Liability to Pressure Palsies

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Genetics Home Reference:21 Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure.

MalaCards based summary: Hereditary Neuropathy with Liability to Pressure Palsies, also known as hereditary pressure sensitive neuropathy, is related to hereditary neuropathies and charcot-marie-tooth disease, and has symptoms including 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 brain, spinal cord and 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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Hereditary Neuropathy with Liability to Pressure Palsies, Aliases & Descriptions:

Name: Hereditary Neuropathy with Liability to Pressure Palsies 65 19 20 21 62
Hereditary Pressure Sensitive Neuropathy 19 21 62
Inherited Tendency to Pressure Palsies 65 21 62
Compression Neuropathy 65 21 62
Entrapment Neuropathy 65 21 62
Tomaculous Neuropathy 65 21 44
 
Hnpp 65 19 21
Hereditary Motor and Sensory Neuropathy 21 62
Familial Pressure Sensitive Neuropathy 21 62
Hereditary Liability to Pressure Palsies 62
Familial Pressure-Sensitive Neuropathy 65


Classifications:

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


Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsies

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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 171)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathies32.4PMP22, MPZ, GJB1
2charcot-marie-tooth disease31.9MPZ, PMP22
3neuropathy31.8PABPN1, GJB1, PMP22, MPZ
4hereditary neuralgic amyotrophy31.6SEPT9
5tooth disease31.5PMP22, MPZ, GJB1
6pelizaeus-merzbacher disease31.2MPZ
7polyradiculoneuropathy31.1PMP22
8brachial plexus neuropathy31.1MPZ, PMP22
9polyneuropathy30.9GJB1, MPZ, PMP22
10charcot-marie-tooth disease type 330.8GJB1, MPZ, PMP22
11charcot-marie-tooth disease type 430.8MPZ, PMP22
12chronic inflammatory demyelinating polyneuropathy30.7PMP22, MPZ
13neuritis30.3PMP22, MPZ
14hereditary neuropathy with liability to pressure palsy11.6
15charcot-marie-tooth disease type 1a11.0
16hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
17charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
18hereditary motor and sensory neuropathy vi10.7
19carpal tunnel syndrome10.7
20optic atrophy10.7
21charcot-marie-tooth disease type 2c10.7
22sensory neuropathy type 110.7
23neuropathy, hereditary motor and sensory, okinawa type10.7
24amyotrophic lateral sclerosis10.7
25lateral sclerosis10.7
26foot drop10.7
27neuropathy, recurrent, with pressure palsies10.7
28agenesis of the corpus callosum10.6
29neuropathy, hereditary motor and sensory, russe type10.6
30motor peripheral neuropathy10.6
31refsum disease10.6
32paraplegia10.6
33charcot-marie-tooth disease type 1b10.6
34neuropathy, hereditary motor and sensory, lom type10.6
35spasticity10.6
36charcot-marie-tooth disease, dominant intermediate b10.6
37diabetes mellitus10.5
38oculopharyngeal muscular dystrophy10.5
39chronic inflammatory demyelinating polyradiculoneuropathy10.5
40bell's palsy10.5
41charcot-marie-tooth disease type 110.5
42sciatic neuropathy10.5
43influenza10.5
44mononeuropathy10.5
45muscular dystrophy10.5
46peripheral neuropathy10.5
47myoclonus10.5
48fibromyalgia10.5
49hereditary spastic paraplegia10.5
50charcot-marie-tooth neuropathy type 4a10.5

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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HPO human phenotypes related to Hereditary Neuropathy with Liability to Pressure Palsies:

id Description Frequency HPO Source Accession
1 abnormality of the motor neurons HP:0002450
2 motor conduction block HP:0012078

Drugs & Therapeutics for Hereditary Neuropathy with Liability to Pressure Palsies

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Drug clinical trials:

Search ClinicalTrials for Hereditary Neuropathy with Liability to Pressure Palsies

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

Genetic Tests for Hereditary Neuropathy with Liability to Pressure Palsies

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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 Palsies20 PMP22

Anatomical Context for Hereditary Neuropathy with Liability to Pressure Palsies

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

32
Brain, Spinal cord, Testes

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

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

36
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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Articles related to Hereditary Neuropathy with Liability to Pressure Palsies:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. (25326571)
2014
2
Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. (24752454)
2014
3
Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis. (23965407)
2013
4
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
5
Hereditary Neuropathy with Liability to Pressure Palsy: global neuropathy after tourniquet use. (24080438)
2013
6
Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. (25337104)
2012
7
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
8
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
9
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
10
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. (22953141)
2012
11
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. (22190321)
2012
12
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. (19437170)
2010
13
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
14
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
15
Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. (17922888)
2008
16
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves. (16969831)
2007
17
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
18
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
19
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
20
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
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
Hereditary neuropathy with liability to pressure palsies: a case report. (11302321)
2001
29
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. (11376203)
2001
30
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. (11369192)
2001
31
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. (11439387)
2001
32
Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. (10671122)
2000
33
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. (10734269)
2000
34
Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies. (11054147)
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 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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Clinvar genetic disease variations for Hereditary Neuropathy with Liability to Pressure Palsies:

6
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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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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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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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Hereditary Neuropathy with Liability to Pressure Palsies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dihydroprogesterone449.6MPZ, PMP22
2dihydrotestosterone44 28 24 1112.6MPZ, PMP22
3ganglioside449.5PMP22, MPZ
4progesterone44 28 61 24 1112.7GJB1, MPZ, PMP22
5arginine448.1GJB1, 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
  • Proteins
  • Lysates

Sources for Hereditary Neuropathy with Liability to Pressure Palsies

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet