MCID: NRP016
MIFTS: 31

Neuropathy, Recurrent, with Pressure Palsies malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 60UMLS, 63Wikipedia, 19GeneReviews, 20GeneTests, 47Orphanet, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Neuropathy, Recurrent, with Pressure Palsies, Aliases & Descriptions:

Name: Neuropathy, Recurrent, with Pressure Palsies 45 10
Hereditary Neuropathy with Liability to Pressure Palsies 63 19 20 21 47
Tomaculous Neuropathy 63 21 43 47
Hnpp 63 19 21 47
Hereditary Pressure Sensitive Neuropathy 19 21
Inherited Tendency to Pressure Palsies 63 21
Compression Neuropathy 63 21
Entrapment Neuropathy 63 21
Neuropathy, Hereditary, with Liability to Pressure Palsies 45
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
Heterozygous Microdeletion 17p11.2p12 47
Current Pressure-Sensitive Neuropathy 47
Nerve Compression Syndrome 60
Tulip-Bulb Digger's Palsy 47
Entrapment Neuropathies 60
Potato-Grubbing Palsy 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hereditary neuropathy with liability to pressure palsies:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 162500
Orphanet47 640
ICD10 via Orphanet26 G60.0
UMLS via Orphanet61 C0393814

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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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 based summary: 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 decreased nerve conduction velocity, scoliosis and paresthesia. 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 brain, spinal cord and lung.

Description from OMIM:45 162500

GeneReviews summary for hnpp

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

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Diseases related to Neuropathy, Recurrent, with Pressure Palsies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.2PMP22
2charcot-marie-tooth disease31.4PMP22
3dejerine-sottas disease31.0PMP22, CMT1A
4charcot-marie-tooth disease, type 1a30.8CMT1A, PMP22
5roussy-levy syndrome30.6PMP22, CMT1A
6charcot-marie-tooth disease, type 1e30.4PMP22, CMT1A
7hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
8hereditary motor and sensory neuropathy v10.8
9hereditary motor and sensory neuropathy, proximal type10.8
10hereditary motor and sensory neuropathy vi10.7
11tooth disease10.7
12sensory neuropathy type 110.7
13lateral sclerosis10.7
14foot drop10.7
15neuropathy, hereditary motor and sensory, russe type10.6
16hereditary motor and sensory neuropathy, type iic10.6
17motor peripheral neuropathy10.6
18agenesis of the corpus callosum10.6
19charcot-marie-tooth disease, type 4d10.6
20refsum disease10.6
21paraplegia10.6
22charcot-marie-tooth disease x-linked 110.6
23spasticity10.6
24oculopharyngeal muscular dystrophy10.5
25pelizaeus-merzbacher disease10.5
26schwannomatosis10.5
27chronic inflammatory demyelinating polyradiculoneuropathy10.5
28sciatic neuropathy10.5
29bell's palsy10.5
30brachial plexus neuropathy10.5
31influenza10.5
32muscular dystrophy10.5
33peripheral neuropathy10.5
34polyradiculoneuropathy10.5
35myoclonus10.5
36fibromyalgia10.5
37charcot-marie-tooth disease, type 4a10.5
38charcot-marie-tooth disease, type 4b210.5
39cowchock syndrome10.5
40charcot-marie-tooth disease, type 2b110.5
41charcot-marie-tooth disease, type 1b10.5
42charcot-marie-tooth disease, type 2b10.5
43charcot-marie-tooth disease, type 2e10.5
44charcot-marie-tooth disease, type 1d10.5
45charcot-marie-tooth disease, type 2b210.5
46hereditary spastic paraplegia10.5
47charcot-marie-tooth disease type 2c10.5
48hereditary neuropathies10.5
49autosomal dominant charcot-marie-tooth disease type 2 with giant axons10.5
50charcot-marie-tooth disease - deafness - intellectual disability10.5

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



Diseases related to neuropathy, recurrent, with pressure palsies

Symptoms for Neuropathy, Recurrent, with Pressure Palsies

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Symptoms by clinical synopsis from OMIM:

162500

Clinical features from OMIM:

162500

Symptoms:

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

HPO human phenotypes related to Neuropathy, Recurrent, with Pressure Palsies:

(show all 14)
id Description Frequency HPO Source Accession
1 decreased nerve conduction velocity hallmark (90%) HP:0000762
2 scoliosis typical (50%) HP:0002650
3 paresthesia typical (50%) HP:0003401
4 reduced tendon reflexes occasional (7.5%) HP:0001315
5 abnormality of the voice occasional (7.5%) HP:0001608
6 pes cavus occasional (7.5%) HP:0001761
7 respiratory insufficiency occasional (7.5%) HP:0002093
8 cranial nerve paralysis occasional (7.5%) HP:0006824
9 autosomal dominant inheritance HP:0000006
10 hyporeflexia HP:0001265
11 muscle weakness HP:0001324
12 vocal cord paralysis HP:0001605
13 decreased motor nerve conduction velocity HP:0003431
14 segmental peripheral demyelination/remyelination HP:0003481

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

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Drug clinical trials:

Search ClinicalTrials for Neuropathy, Recurrent, with Pressure Palsies

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

Genetic Tests for Neuropathy, Recurrent, with Pressure Palsies

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Genetic tests related to Neuropathy, Recurrent, with Pressure Palsies:

id Genetic test Affiliating Genes
1 Hereditary Neuropathy with Liability to Pressure Palsies20 PMP22

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

31
Brain, Spinal cord, 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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Variations for Neuropathy, Recurrent, with Pressure Palsies

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh37Chr 17, 15142825: 15142826
2PMP22PMP22, 1.1- to 1.5-MB DELdeletionPathogenic
3PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
4PMP22NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs)deletionPathogenicGRCh37Chr 17, 15164025: 15164026
5PMP22PMP22, 1-BP INS, 325GinsertionPathogenic
6PMP22NM_000304.3(PMP22): c.199G> A (p.Ala67Thr)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
7PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980
8PMP22NR_039884.1(MIR4731): n.(?_-9031)_(1_70)deldeletionPathogenicGRCh38Chr 17, 15259094: 15260727

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

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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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Sources for Neuropathy, Recurrent, with Pressure Palsies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet