HNPP
MCID: HRD025
MIFTS: 36

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) malady

Neuronal diseases, Genetic diseases categories

Summaries for Hereditary Neuropathy with Liability to Pressure Palsies

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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: Hereditary Neuropathy with Liability to Pressure Palsies, also known as tomaculous neuropathy, is related to neuropathy and charcot-marie-tooth disease. 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 ganglioside and dihydroprogesterone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes.

GeneReviews summary for hnpp

Aliases & Classifications for Hereditary Neuropathy with Liability to Pressure Palsies

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 20GeneTests, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary neuropathy with liability to pressure palsies 63 19 20 21
tomaculous neuropathy 63 19 21 44
hnpp 63 19 21
hereditary pressure sensitive neuropathy 19 21
inherited tendency to pressure palsies 63 21
compression neuropathy 63 21
entrapment neuropathy 63 21
hereditary motor and sensory neuropathies 60
hereditary liability to pressure palsies 60
hereditary motor and sensory neuropathy 21
familial pressure-sensitive neuropathy 63
familial pressure sensitive neuropathy 21
entrapment neuropathies 60


Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsies

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17GeneCards, 18GeneDecks
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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 163)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.3GJB1, PABPN1, SH3TC2, MPZ, PMP22
2charcot-marie-tooth disease31.5PMP22, MPZ
3tooth disease31.5MPZ, PMP22, GJB1
4charcot-marie-tooth neuropathy type 131.0PMP22, MPZ
5brachial plexus neuropathy31.0PMP22, MPZ
6carpal tunnel syndrome31.0PMP22
7hereditary neuralgic amyotrophy31.0SEPT9
8polyneuropathy30.9PMP22, GJB1, MPZ
9motor peripheral neuropathy30.8PMP22, MPZ
10charcot-marie-tooth disease type 330.7MPZ, GJB1, PMP22
11polyradiculoneuropathy30.6PMP22
12charcot-marie-tooth neuropathy type 230.6MPZ
13pelizaeus-merzbacher disease30.6MPZ
14chronic inflammatory demyelinating polyradiculoneuropathy30.6MPZ, PMP22
15diabetic neuropathy30.6PMP22, MPZ
16hereditary neuropathies30.6PMP22, MPZ, GJB1
17charcot-marie-tooth disease type 4e30.4PMP22, MPZ
18sensory peripheral neuropathy30.4PMP22, MPZ, GJB1
19neuritis29.9PMP22, MPZ
20hereditary sensory neuropathy11.2
21charcot-marie-tooth hereditary neuropathy11.1
22peripheral neuropathy10.9
23hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
24hereditary neuropathy with liability to pressure palsy10.8
25hereditary motor and sensory neuropathy vi10.7
26optic atrophy10.7
27charcot-marie-tooth disease with pyramidal features, autosomal dominant10.7
28charcot-marie-tooth disease type 2c10.6
29neuropathy, hereditary motor and sensory, okinawa type10.6
30lateral sclerosis10.6
31peroneal neuropathy10.6
32amyotrophic lateral sclerosis10.6
33radial neuropathy10.6
34neuropathy, hereditary motor and sensory, russe type10.6
35hereditary spastic paraplegia10.5
36paraplegia10.5
37neuropathy, hereditary motor and sensory, lom type10.5
38charcot-marie-tooth disease, dominant intermediate b10.5
39axonal neuropathy10.5
40bell's palsy10.5
41charcot-marie-tooth disease type 210.5
42charcot-marie-tooth disease type 110.5
43median neuropathy10.5
44oculopharyngeal muscular dystrophy10.5
45autosomal dominant disease10.5
46autosomal recessive disease10.5
47chromosomal disease10.5
48diabetes mellitus10.5
49influenza10.5
50mononeuropathy10.5

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

Clinical Features 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests
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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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32MalaCards
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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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Publications for Hereditary Neuropathy with Liability to Pressure Palsies

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50PubMed
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Articles related to Hereditary Neuropathy with Liability to Pressure Palsies:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination. (24146347)
2013
2
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. (22190321)
2012
3
Sonographic features in hereditary neuropathy with liability to pressure palsies. (22581553)
2012
4
Hereditary neuropathy with liability to pressure palsies occurring during military training. (22545374)
2012
5
Massive indoor cycling-induced rhabdomyolysis in a patient with hereditary neuropathy with liability to pressure palsy. (23240383)
2012
6
Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP). (19638685)
2009
7
Hereditary neuropathy with liability to pressure palsies: description of seven patients without known family history. (17922888)
2008
8
Unusual presentation of hereditary neuropathy with liability to pressure palsies. (18218131)
2008
9
Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies. (19099137)
2008
10
Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. (18382985)
2008
11
Hereditary neuropathy with liability to pressure palsies: case report and discussion. (18751796)
2007
12
Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies. (17400990)
2007
13
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. (17620487)
2007
14
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
15
ALS in a patient with hereditary neuropathy with liability to pressure palsy. (17190961)
2006
16
Rapid quantitative PCR diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies. (16570571)
2006
17
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)
2005
18
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
19
The prevalence of hereditary neuropathy with liability to pressure palsies in patients with multiple surgically treated entrapment neuropathies. (16344182)
2005
20
Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. (15489403)
2004
21
Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. (15564036)
2004
22
Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness. (14678806)
2003
23
Hereditary neuropathy with liability to pressure palsies in infancy. (12849887)
2003
24
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. (12885335)
2003
25
Hereditary neuropathy with liability to pressure palsies: the first publication (1947). (12682341)
2003
26
Flail arms in a parachutist: an unusual presentation of hereditary neuropathy with liability to pressure palsies. (12453844)
2002
27
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. (11376203)
2001
28
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. (11439387)
2001
29
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. (11594922)
2001
30
Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies. (11054147)
2000
31
Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. (11045666)
2000
32
Hereditary neuropathy with liability to pressure palsies in children. (10593673)
1999
33
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. (10442687)
1999
34
A family of hereditary neuropathy with liability to pressure palsies with a proband who developed right and left foot drop successively following the left radial nerve palsy]. (10589461)
1999
35
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. (9521270)
1998
36
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)
1997
37
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. (9403478)
1997
38
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. (9447611)
1997
39
Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. (9391880)
1997
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
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? (8789446)
1996
42
DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations. (8848937)
1995
43
Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. (8583222)
1995
44
DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). (7931393)
1994
45
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. (7991108)
1994
46
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. (8422677)
1993
47
Hereditary Neuropathy with Liability to Pressure Palsies (20301566)
1993
48
Hereditary neuropathy with liability to pressure palsies in childhood. (1322507)
1992
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

Genetic Variations for Hereditary Neuropathy with Liability to Pressure Palsies

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

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1BioGPS, 15Gene 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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37NCBI 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
19.6GJB1, MPZ

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

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Compounds related to Hereditary Neuropathy with Liability to Pressure Palsies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside449.7MPZ, PMP22
2dihydroprogesterone449.6MPZ, PMP22
3arginine448.5PABPN1, GJB1, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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