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

Name: Neuropathy, Recurrent, with Pressure Palsies 51 12
Hereditary Neuropathy with Liability to Pressure Palsies 11 70 23 24 25 53 69
Hnpp 11 70 23 24 25 53 69
Tomaculous Neuropathy 11 24 25 53 69 49
Hereditary Pressure Sensitive Neuropathy 23 24 25
Heterozygous Microdeletion 17p11.2p12 11 53
Current Pressure-Sensitive Neuropathy 11 53
Familial Recurrent Polyneuropathy 11 69
Tulip-Bulb Digger's Palsy 11 53
Potato-Grubbing Palsy 11 53
 
Neuropathy, Hereditary, with Liability to Pressure Palsies 51
Hereditary Motor and Sensory Neuropathies 67
Hereditary Liability to Pressure Palsies 67
Hereditary Motor and Sensory Neuropathy 25
Inherited Tendency to Pressure Palsies 25
Familial Pressure Sensitive Neuropathy 25
Nerve Compression Syndrome 67
Entrapment Neuropathies 67
Compression Neuropathy 25
Entrapment Neuropathy 25

Characteristics:

Orphanet epidemiological data:

53
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:

63
neuropathy, recurrent, with pressure palsies:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: many individuals with the pmp22 1.5-mb deletion have few (or no) symptoms and remain undiagnosed. the penetrance is not known...


Classifications:



External Ids:

OMIM51 162500
Disease Ontology11 DOID:0060843
ICD1029 G60.0
Orphanet53 ORPHA640
UMLS via Orphanet68 C0393814
ICD10 via Orphanet30 G60.0
MedGen36 C0393814
MeSH38 D011115

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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Genetics Home Reference:25 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, and related mouse phenotype muscle.

Disease Ontology:11 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has material basis in deletion or point mutation of the PMP22 gene on chromosome 17p12.

UniProtKB/Swiss-Prot:69 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:51 162500

GeneReviews 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary neuropathy with liability to pressure palsy12.7
2hereditary motor and sensory neuropathy via12.6
3hereditary motor and sensory neuropathy v12.5
4hereditary motor and sensory neuropathy, okinawa type12.4
5hereditary motor and sensory neuropathy, type iic12.4
6hereditary motor and sensory neuropathy with acrodystrophy12.3
7nerve compression syndrome11.5
8mononeuropathy of the median nerve, mild11.2
9neuropathy11.1
10hereditary neuropathies11.1
11tarsal tunnel syndrome11.1
12osteopetrosis, autosomal recessive 510.8
13osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.8
14osteopetrosis, autosomal dominant 110.8
15osteopetrosis, autosomal recessive 110.8
16osteopetrosis, autosomal recessive 210.8
17osteopetrosis, autosomal recessive 410.8
18osteopetrosis, autosomal dominant 210.8
19osteopetrosis, autosomal recessive 610.8
20osteopetrosis, autosomal recessive 710.8
21charcot-marie-tooth disease10.6
22tooth disease10.6
23charcot-marie-tooth disease, type 1a10.5
24plexopathy10.3
25polyneuropathy10.1
26lateral sclerosis10.1
27foot drop10.1
28oculopharyngeal muscular dystrophy10.0
29schwannomatosis10.0
30pelizaeus-merzbacher disease10.0
31sciatic neuropathy10.0
32mononeuropathy10.0
33bell's palsy10.0
34brachial plexus neuropathy10.0
35polyradiculoneuropathy10.0
36chronic inflammatory demyelinating polyradiculoneuropathy10.0
37influenza10.0
38muscular dystrophy10.0
39myoclonus10.0
40childhood-onset cerebral x-linked adrenoleukodystrophy9.5DYNC1H1, PMP22
41thrombophilia due to antithrombin iii deficiency9.5DYNC1H1, PMP22
42charcot-marie-tooth neuropathy dominant intermediate f9.3DYNC1H1, 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

Human phenotypes related to Neuropathy, Recurrent, with Pressure Palsies:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased nerve conduction velocity63 hallmark (90%) HP:0000762
2 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
3 paresthesia63 53 typical (50%) Frequent (79-30%) HP:0003401
4 reduced tendon reflexes63 occasional (7.5%) HP:0001315
5 abnormality of the voice63 53 occasional (7.5%) Occasional (29-5%) HP:0001608
6 pes cavus63 53 occasional (7.5%) Occasional (29-5%) HP:0001761
7 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
8 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
9 hyporeflexia63 53 Occasional (29-5%) HP:0001265
10 muscle weakness63 HP:0001324
11 vocal cord paralysis63 53 Occasional (29-5%) HP:0001605
12 decreased motor nerve conduction velocity63 53 Very frequent (99-80%) HP:0003431
13 segmental peripheral demyelination/remyelination63 HP:0003481
14 peripheral neuropathy53 Very frequent (99-80%)

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 Palsies24 PMP22

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

35
Spinal cord, Brain

Animal Models for Neuropathy, Recurrent, with Pressure Palsies or affiliated genes

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MGI Mouse Phenotypes related to Neuropathy, Recurrent, with Pressure Palsies:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1DYNC1H1, PMP22

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:

69
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
1DYNC1H1NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys)SNVLikely pathogenic, Pathogenicrs587780564GRCh37Chr 14, 102452354: 102452354
2PMP22NM_000304.3(PMP22): c.117G> A (p.Trp39Ter)SNVPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
3PMP22PMP22, 1.1- to 1.5-MB DELdeletionPathogenicChr na, -1: -1
4PMP22NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs)deletionPathogenicrs587776691GRCh37Chr 17, 15164025: 15164026
5PMP22NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs)duplicationPathogenicrs80338763GRCh38Chr 17, 15239509: 15239509
6PMP22NM_000304.3(PMP22): c.199G> A (p.Ala67Thr)SNVPathogenicrs104894623GRCh37Chr 17, 15142908: 15142908
7PMP22NM_000304.3(PMP22): c.65C> T (p.Ser22Phe)SNVPathogenicrs104894625GRCh37Chr 17, 15163980: 15163980
8PMP22NR_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet