HNPP
MCID: NRP016
MIFTS: 29

Neuropathy, Recurrent, with Pressure Palsies (HNPP) malady

Neuronal diseases, Fetal diseases categories

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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46OMIM, 32MalaCards
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MalaCards: Neuropathy, Recurrent, with Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to neuropathy and charcot-marie-tooth disease, and has symptoms including areflexia/hyporeflexia, cranial nerves palsy and abnormal cry/voice/phonation disorder/nasal speech. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is CMT1A (Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)). Affiliated tissues include lung.

Description from OMIM:46 162500

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary neuropathy with liability to pressure palsies:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

neuropathy, recurrent, with pressure palsies 46
hereditary neuropathy with liability to pressure palsies 48
hereditary liability to pressure palsies 60
current pressure-sensitive neuropathy 48
heterozygous microdeletion 17p11.2p12 48
tulip-bulb digger's palsy 48
bulbar palsy, progressive 60
tomaculous neuropathy 48
potato-grubbing palsy 48
hnpp 48


External Ids:

ICD10 via Orphanet26 G60.0
OMIM46 162500
SNOMED-CT via Orphanet57 230558006

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

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17GeneCards, 18GeneDecks
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Diseases related to Neuropathy, Recurrent, with Pressure Palsies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.3PMP22
2charcot-marie-tooth disease31.5PMP22
3charcot-marie-tooth neuropathy type 131.0PMP22
4hereditary neuropathy with liability to pressure palsies11.6
5charcot-marie-tooth hereditary neuropathy11.1
6tooth disease11.0
7peripheral neuropathy10.9
8hereditary neuropathy with liability to pressure palsy10.8
9carpal tunnel syndrome10.7
10brachial plexus neuropathy10.7
11hereditary neuralgic amyotrophy10.7
12progressive bulbar palsy10.6
13lateral sclerosis10.6
14peroneal neuropathy10.6
15amyotrophic lateral sclerosis10.6
16polyneuropathy10.6
17radial neuropathy10.6
18axonal neuropathy10.5
19bell's palsy10.5
20pelizaeus-merzbacher disease10.5
21charcot-marie-tooth disease type 210.5
22charcot-marie-tooth disease type 110.5
23median neuropathy10.5
24oculopharyngeal muscular dystrophy10.5
25chronic inflammatory demyelinating polyradiculoneuropathy10.5
26autosomal dominant disease10.5
27autosomal recessive disease10.5
28chromosomal disease10.5
29diabetes mellitus10.5
30diabetic neuropathy10.5
31influenza10.5
32mononeuropathy10.5
33muscular dystrophy10.5
34polyradiculoneuropathy10.5
35charcot-marie-tooth neuropathy type 210.5
36hereditary congenital facial paresis 310.3
37charcot-marie-tooth disease type 1e10.0PMP22, CMT1A
38charcot-marie-tooth disease type 1a10.0CMT1A, PMP22
39charcot-marie-tooth disease type 310.0PMP22, CMT1A
40sciatic neuropathy9.9
41demyelinating polyneuropathy9.9

Graphical network of the top 20 diseases related to Neuropathy, Recurrent, with Pressure Palsies:



Diseases related to neuropathy, recurrent, with pressure palsies

Clinical Features for Neuropathy, Recurrent, with Pressure Palsies

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46OMIM, 48Orphanet
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Clinical features from OMIM:

162500

Clinical synopsis from OMIM:

162500

Symptoms:

48 (show all 13)
  • areflexia/hyporeflexia
  • cranial nerves palsy
  • abnormal cry/voice/phonation disorder/nasal speech
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pes cavus
  • flat palm
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • motor deficit/trouble
  • scoliosis
  • insterstitial/subtelomeric microdeletion/deletion
  • autosomal dominant inheritance
  • nerve conduction abnormality
  • peripheral neuropathy

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Neuropathy, Recurrent, with Pressure Palsies

Drug clinical trials:

Search ClinicalTrials for Neuropathy, Recurrent, with Pressure Palsies

Search NIH Clinical Center for Neuropathy, Recurrent, with Pressure Palsies

Search CenterWatch for Neuropathy, Recurrent, with Pressure Palsies

Genetic Tests for Neuropathy, Recurrent, with Pressure Palsies

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Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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32MalaCards
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MalaCards organs/tissues related to Neuropathy, Recurrent, with Pressure Palsies:

32
Lung

Animal Models for Neuropathy, Recurrent, with Pressure Palsies or affiliated genes

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Publications for Neuropathy, Recurrent, with Pressure Palsies

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Genetic Variations for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

62
id Symbol AA change Variation ID SNP ID
1PMP22p.Val30MetVAR_009659
2PMP22p.Ser22PheVAR_029960
3PMP22p.Ala67ThrVAR_029965

Expression for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

Search GEO for disease gene expression data for Neuropathy, Recurrent, with Pressure Palsies.

Pathways for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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Compounds for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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GO Terms for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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Products for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuropathy, Recurrent, with 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