MCID: NRP016
MIFTS: 36

Neuropathy, Recurrent, with Pressure Palsies malady

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

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 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:47 162500

GeneReviews summary for hnpp

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
47OMIM, 11diseasecard, 23Genetics Home Reference, 65Wikipedia, 21GeneReviews, 22GeneTests, 49Orphanet, 62UMLS, 45Novoseek, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Neuropathy, Recurrent, with Pressure Palsies 47 11
Hereditary Neuropathy with Liability to Pressure Palsies 65 21 22 23 49 62
Tomaculous Neuropathy 65 23 45 49 62
Hnpp 65 21 23 49 62
Hereditary Pressure Sensitive Neuropathy 21 23
Inherited Tendency to Pressure Palsies 65 23
Compression Neuropathy 65 23
Entrapment Neuropathy 65 23
 
Neuropathy, Hereditary, with Liability to Pressure Palsies 47
Hereditary Motor and Sensory Neuropathy 23
Familial Pressure-Sensitive Neuropathy 65
Familial Pressure Sensitive Neuropathy 23
Current Pressure-Sensitive Neuropathy 49
Heterozygous Microdeletion 17p11.2p12 49
Tulip-Bulb Digger's Palsy 49
Potato-Grubbing Palsy 49


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 162500
Orphanet49 640
ICD10 via Orphanet28 G60.0
UMLS via Orphanet63 C0393814

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/GeneDecks gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.9PMP22
2charcot-marie-tooth disease31.3PMP22
3dejerine-sottas disease31.2PMP22, CMT1A
4charcot-marie-tooth disease, type 1a30.8CMT1A, PMP22
5charcot-marie-tooth disease, type 1e30.5PMP22, CMT1A
6roussy-levy syndrome30.5CMT1A, PMP22
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
16refsum disease10.6
17motor peripheral neuropathy10.6
18agenesis of the corpus callosum10.6
19charcot-marie-tooth disease type 2c10.6
20charcot-marie-tooth disease, type 4d10.6
21hereditary motor and sensory neuropathy, type iic10.6
22paraplegia10.6
23charcot-marie-tooth disease x-linked 110.6
24spasticity10.6
25oculopharyngeal muscular dystrophy10.5
26pelizaeus-merzbacher disease10.5
27schwannomatosis10.5
28chronic inflammatory demyelinating polyradiculoneuropathy10.5
29sciatic neuropathy10.5
30bell's palsy10.5
31brachial plexus neuropathy10.5
32influenza10.5
33muscular dystrophy10.5
34peripheral neuropathy10.5
35polyradiculoneuropathy10.5
36myoclonus10.5
37fibromyalgia10.5
38charcot-marie-tooth disease, type 4a10.5
39charcot-marie-tooth disease, type 4b210.5
40cowchock syndrome10.5
41charcot-marie-tooth disease, type 2b110.5
42charcot-marie-tooth disease, type 1b10.5
43charcot-marie-tooth disease, type 2b10.5
44charcot-marie-tooth disease, type 1d10.5
45charcot-marie-tooth disease, type 2b210.5
46hereditary spastic paraplegia10.5
47charcot-marie-tooth disease type 2h10.5
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:

 49 (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 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:

64
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:

7
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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet