MCID: NRP016
MIFTS: 35

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:
49OMIM, 11diseasecard, 23Genetics Home Reference, 65UMLS, 68Wikipedia, 21GeneReviews, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 47Novoseek, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards 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

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

HPO:

61
neuropathy, recurrent, with pressure palsies:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 162500
Orphanet51 640
ICD10 via Orphanet28 G60.0
UMLS via Orphanet66 C0393814
MedGen34 C0393814
MeSH36 D011115
UMLS65 C0393814

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 charcot-marie-tooth disease, type 1e, and has symptoms including decreased nerve conduction velocity, paresthesia and scoliosis. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is PMP22 (Peripheral Myelin Protein 22). Affiliated tissues include spinal cord, brain 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 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 top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1dejerine-sottas disease31.4CMT1A, NR0B1, PMP22
2charcot-marie-tooth disease, type 1e31.3CMT1A, NR0B1, PMP22
3neuropathy, congenital hypomyelinating31.2NR0B1, PMP22
4hereditary neuropathy with liability to pressure palsy12.8
5hereditary motor and sensory neuropathy via12.7
6hereditary motor and sensory neuropathy v12.6
7hereditary motor and sensory neuropathy with agenesis of the corpus callosum12.6
8hereditary motor and sensory neuropathy, okinawa type12.5
9hereditary motor and sensory neuropathy with acrodystrophy12.4
10hereditary motor and sensory neuropathy, type iic12.4
11charcot-marie-tooth disease12.2
12charcot-marie-tooth disease, type 1a11.9
13charcot-marie-tooth disease, type 2e11.9
14neuropathy, hereditary motor and sensory, russe type11.9
15motor peripheral neuropathy11.8
16charcot-marie-tooth disease, type 4d11.8
17charcot-marie-tooth disease, type 1b11.8
18charcot-marie-tooth disease, type 2b11.7
19charcot-marie-tooth disease, type 1d11.7
20neuropathy, hereditary motor and sensory, type vib11.7
21charcot-marie-tooth disease, type 1c11.5
22roussy-levy syndrome11.5
23autosomal dominant charcot-marie-tooth disease type 2 with giant axons11.5
24x-linked charcot-marie-tooth disease type 111.5
25charcot-marie-tooth disease-deafness-intellectual disability syndrome11.5
26autosomal dominant charcot-marie-tooth disease type 2c11.5
27charcot-marie-tooth disease, type 2a111.5
28charcot-marie-tooth disease, type 2a211.5
29refsum disease11.5
30charcot-marie-tooth neuropathy, x-linked dominant, 111.3
31charcot-marie-tooth neuropathy type 111.3
32nerve compression syndrome11.3
33charcot-marie-tooth disease, axonal, type 2s11.2
34neuropathy, hereditary sensory and autonomic, type ii11.2
35charcot-marie-tooth disease type 511.2
36charcot-marie-tooth disease type 2a11.2
37charcot-marie-tooth disease type 2c11.2
38charcot-marie-tooth neuropathy x11.2
39neuropathy10.9
40charcot-marie-tooth disease, type 2b110.8
41charcot-marie-tooth disease, type 4a10.8
42charcot-marie-tooth disease, type 4b210.8
43charcot-marie-tooth disease, type 2b210.8
44tarsal tunnel syndrome10.4
45tooth disease10.3
46sensory neuropathy type 110.3
47hereditary neuropathies10.2
48charcot-marie-tooth disease, type 2r10.2
49neuromyotonia and axonal neuropathy, autosomal recessive10.2
50charcot-marie-tooth disease, type 4c10.2

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 15)
id Description Frequency HPO Source Accession
1 decreased nerve conduction velocity hallmark (90%) HP:0000762
2 paresthesia typical (50%) HP:0003401
3 scoliosis typical (50%) HP:0002650
4 cranial nerve paralysis occasional (7.5%) HP:0006824
5 respiratory insufficiency occasional (7.5%) HP:0002093
6 pes cavus occasional (7.5%) HP:0001761
7 abnormality of the voice occasional (7.5%) HP:0001608
8 reduced tendon reflexes occasional (7.5%) HP:0001315
9 segmental peripheral demyelination/remyelination HP:0003481
10 decreased motor nerve conduction velocity HP:0003431
11 vocal cord paralysis HP:0001605
12 muscle weakness HP:0001324
13 hyporeflexia HP:0001265
14 motor conduction block HP:0012078
15 abnormal motor neuron morphology HP:0002450

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


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

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
Spinal cord, Brain, Lung, B cells, Thyroid, Prostate, Endothelial

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