HNPP
MCID: HRD054

Hereditary Neuropathy with Liability to Pressure Palsy malady

Summaries for Hereditary Neuropathy with Liability to Pressure Palsy

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30NIH Rare Diseases, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: Hereditary neuropathy with liability to pressure palsy (HNPP) is a disorder that affects peripheral nerves. This condition causes recurrent episodes of numbness, tingling, and/or loss of muscle function (palsy). An episode can last from several minutes to several months, but recovery is usually complete. Repeated incidents, however, can cause permanent muscle weakness or loss of sensation. The most common problem sites involve nerves in wrists, elbows, and knees. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. This condition is caused by the loss of one copy of the PMP22 gene or alterations within the gene.30

MalaCards: Hereditary Neuropathy with Liability to Pressure Palsy, also known as polyneuropathy, familial recurrent, is related to hereditary neuropathies and hereditary neuropathy with liability to pressure palsies. An important gene associated with Hereditary Neuropathy with Liability to Pressure Palsy is PMP22 (peripheral myelin protein 22). The compounds ganglioside and dihydroprogesterone have been mentioned in the context of this disorder. Related mouse phenotype behavior/neurological.

Wikipedia: Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a peripheral neuropathy (disorder of...44 more...

Aliases & Descriptions for Hereditary Neuropathy with Liability to Pressure Palsy

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30NIH Rare Diseases, 43UMLS
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hereditary neuropathy with liability to pressure palsy 30
polyneuropathy, familial recurrent 30
tomaculous neuropathy 30
inherited neuropathy 43
hnpp 30

Related Diseases for Hereditary Neuropathy with Liability to Pressure Palsy

Sources:
13GeneCards, 14GeneDecks
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Diseases related to hereditary neuropathy with liability to pressure palsy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathies39.6MPZ, GJB1, PMP22
2hereditary neuropathy with liability to pressure palsies37.1PABPN1, MPZ, GJB1, COX10, SH3TC2, PMP22
3neuropathy36.4PGAM2, PMP22, SH3TC2, COX10, GJB1, MPZ
4charcot-marie-tooth disease36.1PMP22, MPZ
5tooth disease35.3MPZ, GJB1, PMP22
6charcot-marie-tooth disease type 1a35.0PMP22, MPZ
7charcot-marie-tooth disease type 134.8PMP22, GJB1, MPZ
8hereditary neuralgic amyotrophy34.1PMP22, SEPT9
9foot drop33.0PMP22, MPZ
10mononeuropathy32.8SH3TC2, PMP22
11carpal tunnel syndrome32.5PMP22, SH3TC2
12peripheral neuropathy31.3PMP22, SH3TC2, GJB1, MPZ
13charcot-marie-tooth neuropathy type 227.3GJB1, MPZ
14charcot-marie-tooth neuropathy type 126.9PMP22, GJB1, MPZ
15polyneuropathy26.1PMP22, SH3TC2, GJB1, MPZ
16charcot-marie-tooth disease type 1b13.1PMP22, MPZ
17motor peripheral neuropathy13.1PMP22, MPZ
18roussy-levy syndrome13.1PMP22, MPZ
19charcot-marie-tooth neuropathy type 4e13.1PMP22, MPZ
20charcot-marie-tooth neuropathy type 1a13.1PMP22, MPZ
21congenital hypomyelination neuropathy13.0MPZ, PMP22
22chronic inflammatory demyelinating polyradiculoneuropathy13.0PMP22, MPZ
23acute disseminated encephalomyelitis13.0MPZ, PMP22
24polyradiculoneuropathy12.9MPZ, PMP22
25pelizaeus-merzbacher disease12.9MPZ, PMP22
26sensory neuropathy type 112.9PMP22, GJB1
27guillain-barre syndrome12.8PMP22, MPZ
28neurilemmoma12.7MPZ, PMP22
29sensorineural hearing loss12.7GJB1, PMP22
30neuritis12.7MPZ, PMP22
31charcot-marie-tooth disease type 212.6GJB1, MPZ
32brachial plexus neuropathy12.6PMP22, MPZ, SEPT9
33slowed nerve conduction velocity12.5PMP22, GJB1, MPZ
34charcot-marie-tooth disease type 312.5PMP22, GJB1, MPZ
35inherited peripheral neuropathy12.5PMP22, GJB1, MPZ
36hereditary ataxia12.5MPZ, GJB1, PMP22
37sensory peripheral neuropathy12.5MPZ, GJB1, PMP22
38central pontine myelinolysis12.4PMP22, GJB1, MPZ
39diabetic neuropathy12.4MPZ, PMP22
40paralysis12.3PMP22, GJB1, MPZ
41neuromuscular disease12.3PABPN1, PMP22
42neurologic diseases12.3MPZ, GJB1, PMP22
43mayer-rokitansky-kuster-hauser syndrome12.2MPZ, GJB1, PMP22
44charcot-marie-tooth neuropathy12.0PMP22, SH3TC2, GJB1, MPZ
45axonal neuropathy12.0MPZ, GJB1, SH3TC2, PMP22
46hearing loss12.0PMP22, GJB1, MPZ
47myopathy10.9PGAM2, PMP22, COX10, GJB1, MPZ, PABPN1
48diabetes mellitus8.9
49lateral sclerosis8.9
50muscular dystrophy8.9

Graphical network of the top 20 diseases related to hereditary neuropathy with liability to pressure palsy:



Graphical network of diseases related to hereditary neuropathy with liability to pressure palsy

Clinical Features for Hereditary Neuropathy with Liability to Pressure Palsy

Drugs & Therapeutics for Hereditary Neuropathy with Liability to Pressure Palsy

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

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Genetic Tests for Hereditary Neuropathy with Liability to Pressure Palsy

Anatomical Context for Hereditary Neuropathy with Liability to Pressure Palsy

Phenotypes for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

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25MGI
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MGI Mouse Phenotypes related to hereditary neuropathy with liability to pressure palsy:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1behavior/neurological phenotypeMP:00053868.0MPZ, GJB1, COX10, SH3TC2, PMP22

Publications for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

Sources:
35PubMed
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Articles related to hereditary neuropathy with liability to pressure palsy:

(show all 46)
idTitleAuthorsYearAffiliating Genes
1Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)Bhatt A.... Dhaliwal G.2009PMP22
2A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP). (18358598)Marsh E.A.... Robinson D.O.2008PABPN1
3Unusual presentation of hereditary neuropathy with liability to pressure palsies. (18218131)Farooq M.U.... Andary M.T.2008PMP22
4Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. (18382985)Celik Y.... Utku U.2008PMP22
5A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. (17707409)Muglia M.... Quattrone A.2007PMP22
6Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. (17620487)Li J.... Nicholson G.A.2007PMP22
7Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. (16775374)Chance P.F.2006SEPT9
8Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. (16344349)Sanahuja J.... Illa I.2005PMP22
9Effectiveness 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)Choi J.R.... Lim J.B.2005PMP22
10A 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)Zephir H.... Vermersch P.2005PMP22
11Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. (14755484)Li J.... Shy M.E.2004PMP22
12A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. (15205993)Kleopa K.A.... Christodoulou K.2004PMP22
13Application 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)Sutton I.J.... MacDonald F.2004PMP22
14Hereditary neuropathy with liability to pressure palsies in infancy. (12849887)Goikhman I.... Zelnik N.2003PMP22
15A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. (12885335)Lorentzos P.... Nicholson G.A.2003PMP22
16Rapid 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)Kim S.W.... Jung S.C.2003PMP22, MPZ
17Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy. (14581692)Winter W.C.... Juel V.C.2003PMP22
18Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene. (12207933)Van de Wetering R.A.... Mariman E.C.2002PMP22
19A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. (11369192)Meuleman J.... De Jonghe P.2001PMP22
20Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy. (11466642)Lane J.E.... Adkison L.2001PMP22
21Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. (11784354)DackoviA8 J.... Apostolski S.2001PMP22
22Real-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)Aarskog N.K.... Vedeler C.A.2000PMP22
23Screening 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)Beckmann A.... Schroder J.M.2000PMP22
24Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene. (10905899)Nadal M.... Ramos-Arroyo M.A.2000PMP22
25A 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)Ohnishi A.... Suenaga A.1999PMP22, MPZ
26Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. (9712007)Lenssen P.P.... Mariman E.C.1998PMP22
27Recurrent 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)StAPgbauer F.... Funke H.1998PMP22
28Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. (9843070)Pareyson D.... Sghirlanzoni A.1998PMP22
29Gene 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)Gabriel J.M.... Steck A.J.1997PMP22
30PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies. (9371959)Pareyson D.... Taroni F.1997PMP22
31A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. (9040737)Young P.... Funke H.1997PMP22
32Mutational 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)Bort S.... Palau F.1997GJB1, PMP22, MPZ
33Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. (9040736)Schenone A.... Windebank A.J.1997PMP22
34Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. (9403478)Schenone A.... Mancardi G.1997PMP22
35A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. (9143558)Maycox P.R.... Lemke G.1997PMP22
36Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies. (8618572)Kaneko S.... Yoshikawa H.1996PMP22
37A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus (8797209)Yasuda T.... Sobue G.1996PMP22
38Hereditary neuropathy with liability to pressure palsies: distinguishing clinical and electrophysiological features among patients with multiple entrapment neuropathy. (8856651)Hirota N.... Kimura J.1996PMP22
39Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. (8800924)Nelis E.... Gal A.1996GJB1, PMP22, MPZ
40Cation binding at the node of Ranvier in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. (8781657)Yoshikawa H.... Yanagihara T.1996PMP22, MPZ
41A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. (7825607)Lorenzetti D.... Lupski J.R.1995PMP22
42Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. (8583222)Umehara F.... Arimura K.1995PMP22
43A family with hereditary neuropathy with liability to pressure palsies--clinical, electrophysiological, pathological study and DNA analysis (7955724)Kaneko S.... Yoshikawa H.1994PGAM2, PMP22
44A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. (8012388)Nicholson G.A.... Bolhuis P.A.1994PMP22
45Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. (7991107)Gouider R.... Brice A.1994PMP22
46DNA deletion associated with hereditary neuropathy with liability to pressure palsies. (8422677)Chance P.F.... Bird T.D.1993PMP22

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

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hereditary Neuropathy with Liability to Pressure Palsy

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

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

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32Novoseek
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Compounds related to hereditary neuropathy with liability to pressure palsy according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside32 9.7MPZ, PMP22
2dihydroprogesterone32 9.6MPZ, PMP22
3arginine32 7.9PABPN1, MPZ, GJB1, PMP22

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

Sources for Hereditary Neuropathy with Liability to Pressure Palsy

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS