MCID: NRP016
MIFTS: 38

Neuropathy, Recurrent, with Pressure Palsies

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

MalaCards integrated aliases for Neuropathy, Recurrent, with Pressure Palsies:

Name: Neuropathy, Recurrent, with Pressure Palsies 54 13
Hereditary Neuropathy with Liability to Pressure Palsies 12 72 23 24 25 56 71 14
Hnpp 12 72 23 24 25 56 71
Tomaculous Neuropathy 12 24 25 56 71 52
Hereditary Pressure Sensitive Neuropathy 23 24 25
Current Pressure-Sensitive Neuropathy 12 56
Heterozygous Microdeletion 17p11.2p12 12 56
Familial Recurrent Polyneuropathy 12 71
Tulip-Bulb Digger's Palsy 12 56
Potato-Grubbing Palsy 12 56
Hereditary Motor and Sensory Neuropathies 69
Hereditary Liability to Pressure Palsies 69
Hereditary Motor and Sensory Neuropathy 25
Familial Pressure Sensitive Neuropathy 25
Inherited Tendency to Pressure Palsies 25
Nerve Compression Syndrome 69
Entrapment Neuropathies 69
Compression Neuropathy 25
Entrapment Neuropathy 25

Characteristics:

Orphanet epidemiological data:

56
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in first and second decades
precipitated by mechanical compression or pressure on nerve
allelic disorder to charcot-marie-tooth disease type 1a


HPO:

32
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:

OMIM 54 162500
Disease Ontology 12 DOID:0060843
ICD10 33 G60.0
Orphanet 56 ORPHA640
UMLS via Orphanet 70 C0393814
ICD10 via Orphanet 34 G60.0
MedGen 40 C0393814
MeSH 42 D011115
UMLS 69 C0393814

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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 charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, type 1b, and has symptoms including scoliosis, hyporeflexia and pes cavus. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. Affiliated tissues include brain and spinal cord, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 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 : 71 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: 162500
GeneReviews: NBK1392

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

Diseases related to Neuropathy, Recurrent, with Pressure Palsies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2a1 33.0 KIF1B MFN2
2 charcot-marie-tooth disease, type 1b 31.5 EGR2 GJB1 KIF1B MPZ PMP22
3 charcot-marie-tooth disease, type 2i 30.9 KIF1B MPZ
4 charcot-marie-tooth disease, type 2j 30.9 KIF1B MPZ
5 charcot-marie-tooth neuropathy x 30.7 GDAP1 GJB1 MPZ PMP22
6 dejerine-sottas disease 29.9 EGR2 GDAP1 GJB1 KIF1B LITAF MPZ
7 charcot-marie-tooth disease, recessive intermediate, a 29.1 GDAP1 KIF1B MFN2
8 neuropathy, congenital hypomyelinating 28.5 EGR2 GDAP1 GJB1 KIF1B LITAF MFN2
9 charcot-marie-tooth disease, type 1e 27.8 COX10 EGR2 GDAP1 GJB1 KIF1B LITAF
10 charcot-marie-tooth disease, type 1f 27.1 EGR2 GDAP1 GJB1 KIF1B MFN2 MPZ
11 hereditary neuropathy with liability to pressure palsy 12.8
12 hereditary motor and sensory neuropathy via 12.6
13 hereditary motor and sensory neuropathy v 12.5
14 hereditary motor and sensory neuropathy, okinawa type 12.4
15 hereditary motor and sensory neuropathy, type iic 12.4
16 hereditary motor and sensory neuropathy with acrodystrophy 12.3
17 gdap1-related hereditary motor and sensory neuropathy 12.1
18 charcot-marie-tooth disease 12.1
19 neuropathy, hereditary motor and sensory, russe type 12.0
20 charcot-marie-tooth disease, type 1a 11.9
21 charcot-marie-tooth disease, axonal, type 2a2a 11.8
22 charcot-marie-tooth disease, type 2e 11.8
23 agenesis of the corpus callosum with peripheral neuropathy 11.8
24 neuropathy, hereditary motor and sensory, type vib 11.7
25 charcot-marie-tooth disease, type 4d 11.7
26 charcot-marie-tooth disease, type 1d 11.7
27 charcot-marie-tooth neuropathy, x-linked dominant, 1 11.6
28 charcot-marie-tooth disease, type 2b 11.6
29 nerve compression syndrome 11.5
30 charcot-marie-tooth disease, type 1c 11.4
31 giant axonal neuropathy 2, autosomal dominant 11.4
32 charcot-marie-tooth disease, axonal, type 2s 11.4
33 motor peripheral neuropathy 11.4
34 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers 11.4
35 charcot-marie-tooth disease type 2a2 11.4
36 refsum disease 11.4
37 charcot-marie-tooth disease, type 4b2 11.3
38 charcot-marie-tooth disease, type 2b1 11.3
39 charcot-marie-tooth disease, type 2b2 11.3
40 x-linked charcot-marie-tooth disease 11.2
41 mononeuropathy of the median nerve, mild 11.2
42 hereditary neuropathies 11.1
43 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.1
44 charcot-marie-tooth disease type 2a 11.1
45 charcot-marie-tooth disease type 2c 11.1
46 pmp2-related charcot-marie-tooth disease type 1 11.1
47 charcot-marie-tooth disease type 5 11.1
48 charcot-marie-tooth neuropathy type 1 11.1
49 tarsal tunnel syndrome 11.1
50 motor sensory neuropathy type 1 aplasia cutis congenita 11.0

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
hyporeflexia
segmental demyelination/remyelination on nerve biopsy
decreased motor nerve conduction velocities (ncv)
peroneal muscle weakness, transient, recurrent due to peripheral neuropathy
radial, ulnar, and median nerve muscles may be affected
more

Clinical features from OMIM:

162500

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

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 hyporeflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001265
3 pes cavus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001761
4 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 vocal cord paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001605
6 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
7 paresthesia 56 32 frequent (33%) Frequent (79-30%) HP:0003401
8 decreased motor nerve conduction velocity 56 32 hallmark (90%) Very frequent (99-80%) HP:0003431
9 abnormality of the voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001608
10 peripheral neuropathy 56 Very frequent (99-80%)
11 muscle weakness 32 HP:0001324
12 segmental peripheral demyelination/remyelination 32 HP:0003481

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


neuralgia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 COX10 EGR2 GDAP1 GJB1 KIF1B MFN2
2 cellular MP:0005384 9.92 COX10 EGR2 GDAP1 GJB1 LITAF MFN2
3 homeostasis/metabolism MP:0005376 9.86 COX10 EGR2 GDAP1 GJB1 KIF1B LITAF
4 mortality/aging MP:0010768 9.5 EGR2 GJB1 KIF1B MFN2 MPZ PMP22
5 limbs/digits/tail MP:0005371 9.33 EGR2 GDAP1 PMP22
6 nervous system MP:0003631 9.28 MFN2 MPZ PMP22 COX10 EGR2 GDAP1

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

Search Clinical Trials , NIH Clinical Center for Neuropathy, Recurrent, with Pressure Palsies

Genetic Tests for Neuropathy, Recurrent, with Pressure Palsies

Genetic tests related to Neuropathy, Recurrent, with Pressure Palsies:

id Genetic test Affiliating Genes
1 Hereditary Neuropathy with Liability to Pressure Palsies 24 PMP22

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

39
Brain, Spinal Cord

Publications for Neuropathy, Recurrent, with Pressure Palsies

Variations for Neuropathy, Recurrent, with Pressure Palsies

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

71
id Symbol AA change Variation ID SNP ID
1 PMP22 p.Val30Met VAR_009659 rs377335295
2 PMP22 p.Ser22Phe VAR_029960 rs104894625
3 PMP22 p.Ala67Thr VAR_029965 rs104894623

ClinVar genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.1- to 1.5-MB DEL deletion Pathogenic
2 PMP22 NM_000304.3(PMP22): c.19_20delAG (p.Ser7Tyrfs) deletion Pathogenic rs587776691 GRCh37 Chromosome 17, 15164025: 15164026
3 PMP22 NM_000304.3(PMP22): c.281dupG (p.Arg95Glnfs) duplication Pathogenic rs80338763 GRCh38 Chromosome 17, 15239509: 15239509
4 PMP22 NM_000304.3(PMP22): c.199G> A (p.Ala67Thr) single nucleotide variant Pathogenic rs104894623 GRCh37 Chromosome 17, 15142908: 15142908
5 PMP22 NM_000304.3(PMP22): c.65C> T (p.Ser22Phe) single nucleotide variant Pathogenic rs104894625 GRCh37 Chromosome 17, 15163980: 15163980
6 PMP22 NR_039884.1(MIR4731): n.(?_-9031)_(1_70)del deletion Pathogenic GRCh38 Chromosome 17, 15239612: 15260727
7 DYNC1H1 NM_001376.4(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 GRCh37 Chromosome 14, 102452354: 102452354
8 PMP22 NM_000304.3(PMP22): c.117G> A (p.Trp39Ter) single nucleotide variant Pathogenic rs797044846 GRCh37 Chromosome 17, 15162472: 15162472

Expression for Neuropathy, Recurrent, with Pressure Palsies

Search GEO for disease gene expression data for Neuropathy, Recurrent, with Pressure Palsies.

Pathways for Neuropathy, Recurrent, with Pressure Palsies

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

id Super pathways Score Top Affiliating Genes
1 10.81 GJB1 MPZ PMP22

GO Terms for Neuropathy, Recurrent, with Pressure Palsies

Biological processes related to Neuropathy, Recurrent, with Pressure Palsies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.32 GDAP1 MFN2
2 peripheral nervous system development GO:0007422 9.26 EGR2 PMP22
3 mitochondrial fission GO:0000266 9.16 COX10 GDAP1
4 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
5 myelination GO:0042552 8.8 EGR2 MPZ PMP22

Sources for Neuropathy, Recurrent, with Pressure Palsies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....