MCID: NRP016
MIFTS: 30

Neuropathy, Recurrent, with Pressure Palsies malady

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
50OMIM, 69Wikipedia, 22GeneReviews, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Neuropathy, Recurrent, with Pressure Palsies:

Name: Neuropathy, Recurrent, with Pressure Palsies 50 12
Hereditary Neuropathy with Liability to Pressure Palsies 69 22 23 24 52 68
Hnpp 69 22 23 24 52 68
Tomaculous Neuropathy 23 24 52 68 48
Hereditary Pressure Sensitive Neuropathy 22 23 24
Neuropathy, Hereditary, with Liability to Pressure Palsies 50
Hereditary Motor and Sensory Neuropathies 66
Hereditary Liability to Pressure Palsies 66
Hereditary Motor and Sensory Neuropathy 24
Inherited Tendency to Pressure Palsies 24
 
Familial Pressure Sensitive Neuropathy 24
Heterozygous Microdeletion 17p11.2p12 52
Current Pressure-Sensitive Neuropathy 52
Familial Recurrent Polyneuropathy 68
Nerve Compression Syndrome 66
Tulip-Bulb Digger's Palsy 52
Entrapment Neuropathies 66
Compression Neuropathy 24
Entrapment Neuropathy 24
Potato-Grubbing Palsy 52

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
neuropathy, recurrent, with pressure palsies:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 162500
Orphanet52 ORPHA640
ICD10 via Orphanet29 G60.0
UMLS via Orphanet67 C0393814
MedGen35 C0393814
MeSH37 D011115

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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Genetics Home Reference:24 Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.

MalaCards based summary: Neuropathy, Recurrent, with Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to hereditary neuropathy with liability to pressure palsy and hereditary motor and sensory neuropathy via, and has symptoms including decreased nerve conduction velocity, scoliosis and paresthesia. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is PMP22 (Peripheral Myelin Protein 22). Affiliated tissues include spinal cord and brain.

UniProtKB/Swiss-Prot:68 Hereditary neuropathy with liability to pressure palsies: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas.

Description from OMIM:50 162500

GeneReviews summary for NBK1392

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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathy with liability to pressure palsy12.8
2hereditary motor and sensory neuropathy via12.7
3hereditary motor and sensory neuropathy v12.6
4hereditary motor and sensory neuropathy, okinawa type12.5
5hereditary motor and sensory neuropathy, type iic12.5
6hereditary motor and sensory neuropathy with agenesis of the corpus callosum12.5
7hereditary motor and sensory neuropathy with acrodystrophy12.4
8nerve compression syndrome11.4
9neuropathy11.2
10hereditary neuropathies11.2
11charcot-marie-tooth disease10.7
12tooth disease10.7
13charcot-marie-tooth disease, type 1a10.6
14plexopathy10.5
15tarsal tunnel syndrome10.4
16mononeuropathy of the median nerve, mild10.3
17polyneuropathy10.3
18lateral sclerosis10.3
19foot drop10.3
20oculopharyngeal muscular dystrophy10.1
21schwannomatosis10.1
22pelizaeus-merzbacher disease10.1
23sciatic neuropathy10.1
24mononeuropathy10.1
25bell's palsy10.1
26brachial plexus neuropathy10.1
27polyradiculoneuropathy10.1
28chronic inflammatory demyelinating polyradiculoneuropathy10.1
29influenza10.1
30muscular dystrophy10.1
31myoclonus10.1
32charcot-marie-tooth neuropathy dominant intermediate f9.7CMT1A, PMP22
33neuropathy, congenital hypomyelinating9.1NR0B1, PMP22
34smith-magenis syndrome9.1CMT1A, NR0B1, PMP22
35neuropathy, inflammatory demyelinating9.1CMT1A, NR0B1, PMP22
36potocki-lupski syndrome9.0CMT1A, NR0B1, PMP22
37charcot-marie-tooth disease, type 1e9.0CMT1A, NR0B1, PMP22
38thrombophilia due to antithrombin iii deficiency8.9CMT1A, NR0B1, PMP22
39dejerine-sottas disease8.8CMT1A, NR0B1, PMP22

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:

 52 (show all 10)
  • hyporeflexia
  • vocal cord paralysis
  • abnormality of the voice
  • pes cavus
  • respiratory insufficiency
  • scoliosis
  • paresthesia
  • decreased motor nerve conduction velocity
  • cranial nerve paralysis
  • peripheral neuropathy

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

(show all 13)
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 hyporeflexia HP:0001265
10 muscle weakness HP:0001324
11 vocal cord paralysis HP:0001605
12 decreased motor nerve conduction velocity HP:0003431
13 segmental peripheral demyelination/remyelination HP:0003481

UMLS symptoms related to Neuropathy, Recurrent, with Pressure Palsies:


neuralgia, muscle spasticity, spasm, chills, muscle weakness, rectal tenesmus, psoas sign, diaphragmatic paresis, myokymia, muscle fibrosis, trendelenburg's symptom, uvular spasm, neuromuscular pain

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

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Interventional clinical trials:

Search ClinicalTrials, 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 Palsies23 PMP22

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

34
Spinal cord, Brain

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:

68
id Symbol AA change Variation ID SNP ID
1PMP22p.Val30MetVAR_009659rs377335295
2PMP22p.Ser22PheVAR_029960rs104894625
3PMP22p.Ala67ThrVAR_029965rs104894623

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PMP22PMP22, 1.1- to 1.5-MB DELdeletionPathogenic
2PMP22NM_000304.3(PMP22): c.353C> T (p.Thr118Met)single nucleotide variantPathogenicrs104894619GRCh37Chr 17, 15134364: 15134364
3PMP22NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs)deletionPathogenicrs587776691GRCh37Chr 17, 15164025: 15164026
4PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
5PMP22NM_000304.3(PMP22): c.199G> A (p.Ala67Thr)single nucleotide variantPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
6PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)single nucleotide variantPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980
7NR_039884.1(MIR4731): n.(?_-9031)_(1_70)deldeletionPathogenicGRCh38Chr 17, 15239612: 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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GO Terms for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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Biological processes related to Neuropathy, Recurrent, with Pressure Palsies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell differentiationGO:00301549.0NR0B1, PMP22

Sources for Neuropathy, Recurrent, with Pressure Palsies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet