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
Comments on 'hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large chinese family'. (24192759)
2013
2
Hereditary neuropathy with liability to pressure palsy: fulminant radicular dysfunction during anterolateral lumbar interbody fusion. (23881104)
2013
3
Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed. (23279343)
2012
4
Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. (23185166)
2012
5
Coexistence of transthyretin familial amyloid polyneuropathy and hereditary neuropathy with liability to pressure palsy. (22520972)
2012
6
Hereditary neuropathy with liability to pressure palsies occurring during military training. (22545374)
2012
7
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. (23279340)
2012
8
Sonographic features in hereditary neuropathy with liability to pressure palsies. (22102454)
2011
9
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)
2008
10
Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves. (16969831)
2007
11
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (17707409)
2007
12
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies. (17222096)
2007
13
Hereditary neuropathy with liability to pressure palsies: case report and discussion. (18751796)
2007
14
Regional anesthesia for a patient with hereditary neuropathy with liability to pressure palsies. (17400990)
2007
15
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)
2006
16
A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. (16601541)
2006
17
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
18
Combined hereditary neuropathy with liability to pressure palsy and non-systemic vasculitic neuropathy. (15958135)
2005
19
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. (14755484)
2004
20
Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy. (14581692)
2003
21
Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation. (12827539)
2003
22
Hereditary neuropathy with liability to pressure palsies. (11901406)
2002
23
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. (12084875)
2002
24
Hereditary neuropathy with liability to pressure palsies. (11901405)
2002
25
Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. (10734269)
2000
26
Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies. (11054147)
2000
27
Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. (10636123)
2000
28
Fulminant case of hereditary neuropathy with liability to pressure palsy. (10842280)
2000
29
Variability of presentation in hereditary neuropathy with liability to pressure palsy results in underrecognition. (10586259)
1999
30
Overview of hereditary neuropathy with liability to pressure palsies. (10586225)
1999
31
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. (9712007)
1998
32
3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. (10093067)
1998
33
Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. (9852256)
1998
34
Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis. (9933299)
1998
35
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)
1997
36
A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. (9143558)
1997
37
Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP). (9179161)
1997
38
Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. (9391880)
1997
39
Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies. (8894410)
1996
40
Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. (8936351)
1996
41
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). (8557256)
1996
42
Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. (8780105)
1996
43
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. (8800924)
1996
44
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. (7501152)
1995
45
A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis]. (7955724)
1994
46
A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. (7909361)
1994
47
Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. (8033945)
1994
48
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. (8396068)
1993
49
Clinical and electrodiagnostic findings, nerve biopsy and blood group markers in a family with hereditary neuropathy with liability to pressure palsies. (1827702)
1991
50
Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies. (2997660)
1985

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
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57SNOMED-CT via Orphanet
60UMLS
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