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 spinal cord, brain and testes.

GeneReviews summary for hnpp

Aliases & Classifications for Hereditary Neuropathy with Liability to Pressure Palsies

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63Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 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
Spinal cord, Brain, 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
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. (24239057)
2014
2
Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child. (22953141)
2012
3
Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy. (22098098)
2012
4
Hereditary neuropathy with liability to pressure palsy: a brief review with a case report. (22023293)
2012
5
Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves. (22037956)
2012
6
Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. (22131320)
2011
7
Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies. (19437170)
2010
8
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
9
A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies. (19830275)
2009
10
Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade. (18760885)
2009
11
Hereditary neuropathy with liability to pressure palsy in childhood. (19070319)
2008
12
Early-onset hereditary neuropathy with liability to pressure palsy. (17607607)
2007
13
Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies. (16570573)
2006
14
Hereditary neuropathy with liability to pressure palsy. (17183456)
2006
15
Hereditary neuropathy with liability to pressure palsies: a clinical and genetic study of a Taiwanese family. (15804150)
2005
16
Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. (15668057)
2005
17
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. (15205993)
2004
18
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
19
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
20
Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies. (12210462)
2002
21
Hereditary neuropathy with liability to pressure palsies in a toddler. (12499508)
2002
22
Hereditary neuropathy with liability to pressure palsies: a case report. (11302321)
2001
23
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. (11369192)
2001
24
Epidural analgesia in labour for a patient with hereditary neuropathy with liability to pressure palsy. (15321610)
2001
25
Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. (11784354)
2001
26
Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. (10671122)
2000
27
Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. (11140948)
2000
28
Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies. (10787121)
2000
29
Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene. (10905899)
2000
30
Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion. (10705641)
1999
31
Pediatric bilateral carpal tunnel syndrome as first manifestation of hereditary neuropathy with liability to pressure palsies (HNPP). (10210852)
1998
32
Hereditary neuropathy with liability to pressure palsies: a patient's point mutation in a mouse model. (9748005)
1998
33
Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. (9703447)
1998
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
Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. (9208274)
1997
36
PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies. (9371959)
1997
37
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. (9187667)
1997
38
Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies. (8618572)
1996
39
Hereditary neuropathy with liability to pressure palsies: assocation with central nervous system demyelination. (8609929)
1996
40
Persisting "writer's cramp" as a result of compensation of a temporary palsy due to a hereditary neuropathy with liability to pressure palsies. (8866501)
1996
41
Hereditary neuropathy with liability to pressure palsies: distinguishing clinical and electrophysiological features among patients with multiple entrapment neuropathy. (8856651)
1996
42
Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. (8844715)
1996
43
Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12. (8674184)
1996
44
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis. (8565626)
1996
45
Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy--two genetically distinct disorders. (7630211)
1995
46
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. (7944298)
1994
47
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. (8012388)
1994
48
Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies. (8210227)
1994
49
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. (7991107)
1994
50
Clinical and electroneuromyographical findings in hereditary neuropathy with liability to pressure palsies. (4377795)
1974

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
  • Proteins
  • Lysates
  • Antibodies

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
61UMLS via Orphanet