MCID: NRP016
MIFTS: 34

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:
49OMIM, 11diseasecard, 68Wikipedia, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Neuropathy, Recurrent, with Pressure Palsies 49 11
Hereditary Neuropathy with Liability to Pressure Palsies 68 21 22 23 51 67
Tomaculous Neuropathy 68 22 23 47 51 67
Hnpp 68 21 22 23 51 67
Hereditary Pressure Sensitive Neuropathy 21 22 23
Inherited Tendency to Pressure Palsies 68 23
Compression Neuropathy 68 23
Entrapment Neuropathy 68 23
Hereditary Motor and Sensory Neuropathies 65
Hereditary Liability to Pressure Palsies 65
 
Hereditary Motor and Sensory Neuropathy 23
Familial Pressure-Sensitive Neuropathy 68
Familial Pressure Sensitive Neuropathy 23
Heterozygous Microdeletion 17p11.2p12 51
Current Pressure-Sensitive Neuropathy 51
Familial Recurrent Polyneuropathy 67
Nerve Compression Syndrome 65
Tulip-Bulb Digger's Palsy 51
Entrapment Neuropathies 65
Potato-Grubbing Palsy 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 162500
Orphanet51 640
UMLS via Orphanet66 C0393814
ICD10 via Orphanet28 G60.0
MedGen34 C0393814
MeSH36 D011115

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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Genetics Home Reference:23 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 dejerine-sottas disease and neuropathy, congenital hypomyelinating, 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 brain, spinal cord and lung.

UniProtKB/Swiss-Prot:67 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:49 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 186)
idRelated DiseaseScoreTop Affiliating Genes
1dejerine-sottas disease30.3CMT1A, NR0B1, PMP22
2neuropathy, congenital hypomyelinating30.1NR0B1, PMP22
3charcot-marie-tooth disease, type 1e30.1CMT1A, NR0B1, PMP22
4hereditary neuropathy with liability to pressure palsy11.6
5neuropathy11.6
6hereditary neuropathies11.6
7charcot-marie-tooth disease11.1
8tooth disease11.1
9charcot-marie-tooth disease, type 1a11.0
10hereditary motor and sensory neuropathy via10.8
11hereditary motor and sensory neuropathy with agenesis of the corpus callosum10.8
12hereditary motor and sensory neuropathy, okinawa type10.8
13hereditary motor and sensory neuropathy v10.8
14hereditary motor and sensory neuropathy, type iic10.7
15sensory neuropathy type 110.7
16charcot-marie-tooth disease, type 4d10.7
17neuropathy, hereditary motor and sensory, russe type10.7
18lateral sclerosis10.6
19polyneuropathy10.6
20foot drop10.6
21charcot-marie-tooth disease, type 2e10.6
22hereditary motor and sensory neuropathy with acrodystrophy10.6
23charcot-marie-tooth disease, type 2b10.5
24refsum disease10.5
25charcot-marie-tooth disease, type 1d10.5
26paraplegia10.5
27mononeuropathy of the median nerve, mild10.5
28oculopharyngeal muscular dystrophy10.5
29schwannomatosis10.5
30pelizaeus-merzbacher disease10.5
31bell's palsy10.5
32chronic inflammatory demyelinating polyradiculoneuropathy10.5
33brachial plexus neuropathy10.5
34influenza10.5
35mononeuropathy10.5
36muscular dystrophy10.5
37peripheral neuropathy10.5
38polyradiculoneuropathy10.5
39myoclonus10.5
40charcot-marie-tooth disease, type 2a110.5
41charcot-marie-tooth disease, type 2a210.5
42charcot-marie-tooth disease, type 2b110.5
43neuropathy, hereditary motor and sensory, type vib10.5
44charcot-marie-tooth disease, type 4a10.5
45charcot-marie-tooth disease, type 4b210.5
46charcot-marie-tooth disease, type 1c10.5
47charcot-marie-tooth disease, type 2b210.5
48charcot-marie-tooth neuropathy, x-linked dominant, 110.5
49hereditary spastic paraplegia10.5
50autosomal dominant charcot-marie-tooth disease type 2 with giant axons10.5

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:

 51 (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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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 Palsies22 PMP22

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

33
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:

67
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:

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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Sources for Neuropathy, Recurrent, with Pressure Palsies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet