HNPP
MCID: NRP016
MIFTS: 38

Neuropathy, Recurrent, with Pressure Palsies (HNPP) 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 52 12
Hereditary Neuropathy with Liability to Pressure Palsies 11 71 23 24 25 54 70 13
Hnpp 11 71 23 24 25 54 70
Tomaculous Neuropathy 11 24 25 54 70 50
Hereditary Pressure Sensitive Neuropathy 23 24 25
Heterozygous Microdeletion 17p11.2p12 11 54
Current Pressure-Sensitive Neuropathy 11 54
Familial Recurrent Polyneuropathy 11 70
Tulip-Bulb Digger's Palsy 11 54
Potato-Grubbing Palsy 11 54
 
Neuropathy, Hereditary, with Liability to Pressure Palsies 52
Hereditary Motor and Sensory Neuropathies 68
Hereditary Liability to Pressure Palsies 68
Hereditary Motor and Sensory Neuropathy 25
Inherited Tendency to Pressure Palsies 25
Familial Pressure Sensitive Neuropathy 25
Nerve Compression Syndrome 68
Entrapment Neuropathies 68
Compression Neuropathy 25
Entrapment Neuropathy 25

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 162500
Disease Ontology11 DOID:0060843
ICD1030 G60.0
Orphanet54 ORPHA640
UMLS via Orphanet69 C0393814
ICD10 via Orphanet31 G60.0
MedGen37 C0393814
MeSH39 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 motor and sensory neuropathy via and charcot-marie-tooth disease, type 2a1, and has symptoms including neuralgia, neuralgia and Array. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include spinal cord and brain, and related mouse phenotypes are muscle and cellular.

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:70 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:52 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 top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy via33.9MFN2, PMP22
2charcot-marie-tooth disease, type 2a132.8KIF1B, MFN2
3dejerine-sottas disease32.1GDAP1, GJB1, KIF1B, MFN2, MPZ, PMP22
4charcot-marie-tooth disease, type 1e32.1EGR2, GJB1, KIF1B, MPZ, PMP22
5neuropathy, congenital hypomyelinating31.8EGR2, GDAP1, GJB1, KIF1B, MPZ, PMP22
6charcot-marie-tooth disease, type 2i30.6KIF1B, MPZ
7charcot-marie-tooth disease, dominant intermediate d30.6KIF1B, MPZ
8charcot-marie-tooth disease, type 2j28.9DYNC1H1, EGR2, GDAP1, GJB1, KIF1B, MFN2
9hereditary neuropathy with liability to pressure palsy12.8
10hereditary motor and sensory neuropathy v12.5
11hereditary motor and sensory neuropathy, okinawa type12.4
12hereditary motor and sensory neuropathy, type iic12.4
13hereditary motor and sensory neuropathy with acrodystrophy12.3
14charcot-marie-tooth disease12.2
15gdap1-related hereditary motor and sensory neuropathy12.1
16neuropathy, hereditary motor and sensory, russe type12.1
17charcot-marie-tooth disease, type 2a211.9
18charcot-marie-tooth disease, type 1a11.9
19agenesis of the corpus callosum with peripheral neuropathy11.8
20charcot-marie-tooth disease, type 2e11.7
21neuropathy, hereditary motor and sensory, type vib11.7
22charcot-marie-tooth disease, type 1b11.7
23charcot-marie-tooth disease, type 4d11.7
24charcot-marie-tooth disease, type 1d11.7
25charcot-marie-tooth disease, type 2b11.6
26charcot-marie-tooth neuropathy, x-linked dominant, 111.6
27charcot-marie-tooth disease, axonal, type 2s11.6
28motor peripheral neuropathy11.6
29nerve compression syndrome11.5
30charcot-marie-tooth disease, type 1c11.4
31giant axonal neuropathy 2, autosomal dominant11.4
32roussy-levy syndrome11.4
33neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers11.4
34refsum disease11.4
35charcot-marie-tooth disease, dominant intermediate b11.4
36charcot-marie-tooth disease, type 2b111.3
37charcot-marie-tooth disease, type 4a11.3
38charcot-marie-tooth disease, type 4b211.3
39charcot-marie-tooth disease, type 2b211.3
40cowchock syndrome11.3
41charcot-marie-tooth neuropathy type 111.2
42x-linked charcot-marie-tooth disease11.2
43mononeuropathy of the median nerve, mild11.2
44hereditary neuropathies11.1
45tarsal tunnel syndrome11.1
46neuropathy, hereditary sensory and autonomic, type ii11.1
47charcot-marie-tooth disease type 511.1
48autosomal dominant charcot-marie-tooth disease type 2 with giant axons11.1
49charcot-marie-tooth disease type 2a11.1
50charcot-marie-tooth disease type 2c11.1

Graphical network of the top 20 diseases related to Neuropathy, Recurrent, with Pressure Palsies:



Diseases related to neuropathy, recurrent, with pressure palsies

Symptoms & Phenotypes 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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyporeflexia64 54 Occasional (29-5%) HP:0001265
2 vocal cord paralysis64 54 Occasional (29-5%) HP:0001605
3 abnormality of the voice64 54 Occasional (29-5%) HP:0001608
4 pes cavus64 54 Occasional (29-5%) HP:0001761
5 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
6 scoliosis64 54 Frequent (79-30%) HP:0002650
7 paresthesia64 54 Frequent (79-30%) HP:0003401
8 decreased motor nerve conduction velocity64 54 Very frequent (99-80%) HP:0003431
9 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
10 peripheral neuropathy54 Very frequent (99-80%)
11 abnormal motor neuron morphology64 HP:0002450
12 motor conduction block64 HP:0012078
13 muscle weakness64 HP:0001324
14 segmental peripheral demyelination/remyelination64 HP:0003481

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


neuralgia

MGI Mouse Phenotypes related to Neuropathy, Recurrent, with Pressure Palsies according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8COX10, DYNC1H1, KIF1B, MFN2, PMP22
2MP:00053847.7COX10, EGR2, GDAP1, GJB1, MFN2, MPZ
3MP:00053767.6COX10, EGR2, GDAP1, GJB1, KIF1B, MFN2
4MP:00107687.4COX10, DYNC1H1, EGR2, GJB1, KIF1B, MFN2
5MP:00053866.9COX10, DYNC1H1, EGR2, GDAP1, GJB1, KIF1B
6MP:00036316.1COX10, DYNC1H1, EGR2, GDAP1, GJB1, KIF1B

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:

36
Spinal cord, Brain

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:

70
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)SNVPathogenic/ Likely pathogenicrs587780564GRCh37Chr 14, 102452354: 102452354
2PMP22NM_ 000304.3(PMP22): c.117G> A (p.Trp39Ter)SNVPathogenicrs797044846GRCh37Chr 17, 15162472: 15162472
3PMP22PMP22, 1.1- to 1.5-MB DELdeletionPathogenic
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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Pathways related to Neuropathy, Recurrent, with Pressure Palsies according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4GJB1, MPZ, PMP22

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
1mitochondrial fissionGO:000026610.0COX10, GDAP1
2peripheral nervous system developmentGO:00074229.9EGR2, PMP22
3mitochondrial fusionGO:00080539.7GDAP1, MFN2
4myelinationGO:00425529.6EGR2, MPZ, PMP22
5protein targeting to mitochondrionGO:00066269.1GDAP1, MFN2

Molecular functions related to Neuropathy, Recurrent, with Pressure Palsies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00037779.7DYNC1H1, KIF1B

Sources for Neuropathy, Recurrent, with Pressure Palsies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet