HNPP
MCID: NRP051
MIFTS: 55

Neuropathy, Hereditary, with Liability to Pressure Palsies (HNPP)

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

Aliases & Classifications for Neuropathy, Hereditary, with Liability to Pressure Palsies

MalaCards integrated aliases for Neuropathy, Hereditary, with Liability to Pressure Palsies:

Name: Neuropathy, Hereditary, with Liability to Pressure Palsies 57
Hereditary Neuropathy with Liability to Pressure Palsies 12 73 25 20 43 58 72 36 15
Tomaculous Neuropathy 57 12 20 43 58 72 54 44
Hnpp 57 12 25 20 43 58 72
Polyneuropathy, Familial Recurrent 57 20 6
Neuropathy, Recurrent, with Pressure Palsies 57 13
Current Pressure-Sensitive Neuropathy 12 58
Heterozygous Microdeletion 17p11.2p12 12 58
Familial Recurrent Polyneuropathy 12 72
Tulip-Bulb Digger's Palsy 12 58
Potato-Grubbing Palsy 12 58
Hereditary Motor and Sensory Neuropathies 70
Hereditary Pressure Sensitive Neuropathy 43
Hereditary Liability to Pressure Palsies 70
Hereditary Motor and Sensory Neuropathy 43
Familial Pressure Sensitive Neuropathy 43
Inherited Tendency to Pressure Palsies 43
Nerve Compression Syndrome 70
Entrapment Neuropathies 70
Compression Neuropathy 43
Entrapment Neuropathy 43

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
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:

31
neuropathy, hereditary, with liability to pressure palsies:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is 100% but expressivity is highly variable even within the same family....

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060843
OMIM® 57 162500
KEGG 36 H01296
SNOMED-CT 67 230558006
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C0393814
Orphanet 58 ORPHA640
MedGen 41 C0393814
UMLS 70 C0027743 C0027888 C0393814 more

Summaries for Neuropathy, Hereditary, with Liability to Pressure Palsies

GARD : 20 Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder that affects peripheral nerves, causing the nerves to be highly sensitive to pressure. Symptoms usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity. While some people never realize they have the disorder, others experience prolonged disability. The most common problem sites involve nerves in the wrists, elbows, and knees; however, the fingers, shoulders, hands, feet, and scalp can also be affected. Symptoms associated with HNPP occur in episodes, due to pressure on any single peripheral nerve. Symptoms may include numbness, tingling, and/or loss of muscle function ( palsy ), pain in the limbs (especially the hands), carpal tunnel syndrome (impairing the ability to use the fingers, hands, and wrists), and foot drop (making it hard or impossible to walk, climb stairs, or drive). Some people experience fatigue, generalized weakness, muscle cramps, pain in the muscles or bones, or lower back pain. An episode of symptoms associated with HNPP can last from several minutes to days or even months. Most people completely recover after an episode, but repeated episodes can cause permanent muscle weakness or loss of sensation. HNPP is most often caused by the loss of one copy (a deletion ) of the PMP22 gene, but it may also be cause by a mutation within this gene. It is inherited in an autosomal dominant manner. The diagnosis is made based on the symptoms present, electrodiagnostic testing, and genetic testing. HNPP is thought to be underdiagnosed, and it may be misdiagnosed as another disorder such as Charcot-Marie Tooth disease. There is currently no standard medical treatment for HNPP. Management generally involves strategies to avoid or modify positions (such as leaning on the elbows) and activities that cause symptoms, and using splints or pads on the wrists or arms to avoid pressure on the nerves. An ankle-foot orthosis may be needed permanently for those with a residual foot drop. Management of pain may include over-the-counter pain medicines and/or prescription drugs used for peripheral neuropathy. Special work or school accommodations may be necessary. While the long-term outlook ( prognosis ) regarding quality of life depends on the frequency and severity of episodes and whether pain and disability persist, HNPP does not affect life expectancy.

MalaCards based summary : Neuropathy, Hereditary, with Liability to Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to neuropathy, hereditary motor and sensory, russe type and charcot-marie-tooth disease, axonal, type 2a1, and has symptoms including neuralgia An important gene associated with Neuropathy, Hereditary, with Liability to Pressure Palsies is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Folic acid and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, heart and skin, and related phenotypes are decreased motor nerve conduction velocity and scoliosis

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.

MedlinePlus Genetics : 43 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.Hereditary neuropathy with liability to pressure palsies is characterized by recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in the region associated with the affected nerve, usually an arm, hand, leg, or foot. An episode can last from several minutes to several months, but recovery is usually complete. Repeated incidents, however, can cause permanent muscle weakness or loss of sensation. This disorder is also associated with pain in the limbs, especially the hands.A pressure palsy episode results from pressure on a single nerve, and any peripheral nerve can be affected. Although episodes often recur, they can affect different nerves. The most common problem sites involve nerves in the wrists, elbows, and knees. The fingers, shoulders, hands, feet, and scalp can also be affected. Many people with this disorder experience carpal tunnel syndrome, which occurs when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness in the hand and fingers. An episode in the hand may affect fine motor activities such as writing, opening jars, and fastening buttons. An episode of nerve compression in the knee can lead to a condition called foot drop, which makes walking, climbing stairs, or driving difficult or impossible.The symptoms of hereditary neuropathy with liability to pressure palsies usually begin during adolescence or early adulthood but may develop anytime from childhood to late adulthood. Symptoms vary in severity; many people never realize they have the disorder, while some people experience prolonged disability. Hereditary neuropathy with liability to pressure palsies does not affect life expectancy.

KEGG : 36 Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition... more...

More information from OMIM: 162500
GeneReviews: NBK1392

Related Diseases for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary motor and sensory, russe type 33.1 SH3TC2 GDAP1 EGR2
2 charcot-marie-tooth disease, axonal, type 2a1 32.9 MPZ MFN2 GDAP1
3 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 32.7 MFN2 LITAF
4 roussy-levy hereditary areflexic dystasia 32.6 PMP22 MPZ
5 hereditary motor and sensory neuropathy, type iic 32.4 SH3TC2 MPZ MFN2 GJB1 GDAP1 GARS1
6 charcot-marie-tooth disease, axonal, type 2t 32.4 SH3TC2 GDAP1
7 charcot-marie-tooth disease type 5 32.3 PRX GARS1
8 charcot-marie-tooth disease, axonal, type 2b1 32.3 MFN2 GDAP1
9 neuropathy, hereditary sensory and autonomic, type iia 32.1 SH3TC2 LITAF GDAP1 FGD4
10 charcot-marie-tooth disease, x-linked recessive, 2 32.0 MPZ MFN2 LITAF GJB1 EGR2
11 charcot-marie-tooth disease, axonal, type 2b2 32.0 MPZ MFN2 GDAP1 GARS1
12 charcot-marie-tooth disease, demyelinating, type 1d 31.8 PRX PMP22 MTMR2 MPZ LITAF GJB1
13 charcot-marie-tooth disease, axonal, type 2b 31.8 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
14 motor peripheral neuropathy 31.7 SH3TC2 PMP22 MFN2 MAG LITAF GARS1
15 charcot-marie-tooth disease, type 4d 31.6 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
16 charcot-marie-tooth disease, axonal, type 2d 31.6 SH3TC2 PMP22 MPZ MFN2 GJB1 GDAP1
17 brachial plexus neuropathy 31.4 PMP22 MPZ GJB1
18 charcot-marie-tooth disease, type 4b1 31.3 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
19 charcot-marie-tooth disease intermediate type 31.3 SH3TC2 SBF2 MTMR2 MPZ MFN2 LITAF
20 charcot-marie-tooth disease, dominant intermediate d 31.2 TEKT3 SH3TC2 MPZ
21 charcot-marie-tooth disease, type 4k 31.1 SH3TC2 LITAF
22 charcot-marie-tooth disease, axonal, type 2p 31.0 LITAF GDAP1
23 charcot-marie-tooth disease, axonal, type 2e 31.0 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
24 charcot-marie-tooth disease, dominant intermediate a 30.9 PRX MPZ GJB1 GDAP1
25 charcot-marie-tooth disease, axonal, type 2u 30.9 GJB1 GARS1
26 charcot-marie-tooth disease, axonal, type 2n 30.9 GDAP1 GARS1
27 charcot-marie-tooth disease, recessive intermediate a 30.9 MFN2 GDAP1
28 charcot-marie-tooth disease, demyelinating, type 1c 30.8 SH3TC2 SBF2 PRX PMP22 MTMR2 MPZ
29 nerve compression syndrome 30.8 SH3TC2 PMP22 MPZ
30 charcot-marie-tooth disease, type 4a 30.8 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
31 neuropathy, congenital hypomyelinating, 1, autosomal recessive 30.8 TEKT3 SH3TC2 SBF2 PRX PMP22 MTMR2
32 charcot-marie-tooth disease, dominant intermediate c 30.8 MPZ GJB1 GDAP1 GARS1
33 charcot-marie-tooth disease, axonal, type 2l 30.7 MPZ MFN2 GDAP1 GARS1
34 charcot-marie-tooth disease, dominant intermediate e 30.7 SH3TC2 SBF2 MTMR2 MPZ GDAP1
35 pelizaeus-merzbacher disease 30.7 PMP22 MPZ MAG
36 amyotrophic neuralgia 30.7 PMP22 MPZ
37 hereditary neuropathies 30.6 PRX PMP22 MTMR2 MPZ MFN2 MAG
38 mononeuropathy 30.6 SH3TC2 PMP22 MPZ MAG
39 carpal tunnel syndrome 30.6 SH3TC2 PMP22 MPZ
40 charcot-marie-tooth disease, type 4b3 30.6 SH3TC2 SBF2 PMP22 MTMR2 MPZ GDAP1
41 charcot-marie-tooth disease, demyelinating, type 1f 30.6 SBF2 MTMR2 MPZ LITAF GJB1 GDAP1
42 spinal muscular atrophy 30.5 SH3TC2 PMP22 LITAF GARS1
43 charcot-marie-tooth disease, dominant intermediate b 30.5 SH3TC2 SBF2 MTMR2 MPZ LITAF GDAP1
44 foot drop 30.5 PMP22 MPZ
45 charcot-marie-tooth disease, type 4b2 30.5 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
46 charcot-marie-tooth disease x-linked recessive 4 30.4 MPZ GJB1
47 charcot-marie-tooth disease, axonal, type 2f 30.4 MPZ MFN2 LITAF GJB1 GDAP1 GARS1
48 charcot-marie-tooth disease, axonal, type 2i 30.4 SH3TC2 PRX MPZ GJB1 GDAP1 GARS1
49 charcot-marie-tooth disease, axonal, type 2j 30.4 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
50 charcot-marie-tooth disease, type 4c 30.3 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1

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



Diseases related to Neuropathy, Hereditary, with Liability to Pressure Palsies

Symptoms & Phenotypes for Neuropathy, Hereditary, with Liability to Pressure Palsies

Human phenotypes related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased motor nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003431
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
4 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
5 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
6 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
7 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
8 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
9 peripheral neuropathy 58 31 Very frequent (99-80%) HP:0009830
10 muscle weakness 31 HP:0001324
11 abnormality of the voice 58 Occasional (29-5%)
12 segmental peripheral demyelination/remyelination 31 HP:0003481

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
hyporeflexia
peroneal muscle weakness, transient, recurrent due to peripheral neuropathy
radial, ulnar, and median nerve muscles may be affected
vocal cord paralysis has been reported
tomacula (sausage-shaped swellings of the myelin sheath) on nerve biopsy
more

Clinical features from OMIM®:

162500 (Updated 20-May-2021)

UMLS symptoms related to Neuropathy, Hereditary, with Liability to Pressure Palsies:


neuralgia

GenomeRNAi Phenotypes related to Neuropathy, Hereditary, with Liability to Pressure Palsies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.91 GJB1
2 Decreased viability GR00055-A-2 9.91 GJB1
3 Decreased viability GR00249-S 9.91 MPZ PRODH SH3TC2 GJB1
4 Decreased viability GR00381-A-1 9.91 COX10 FGD4 MPZ PRDM9 PRODH PRX
5 Decreased viability GR00381-A-3 9.91 MPZ
6 Decreased viability GR00386-A-1 9.91 MPZ PRDM9 EGR2
7 Decreased viability GR00402-S-2 9.91 FGD4 MPZ GARS1 GJB1 MTMR2

MGI Mouse Phenotypes related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 COX10 EGR2 FGD4 GARS1 GDAP1 GJB1
2 homeostasis/metabolism MP:0005376 9.8 COX10 EGR2 FGD4 GDAP1 GJB1 LITAF
3 nervous system MP:0003631 9.55 COX10 EGR2 FGD4 GARS1 GDAP1 GJB1

Drugs & Therapeutics for Neuropathy, Hereditary, with Liability to Pressure Palsies

Drugs for Neuropathy, Hereditary, with Liability to Pressure Palsies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
2 Micronutrients Phase 4
3 Trace Elements Phase 4
4 Vitamin B9 Phase 4
5 Nutrients Phase 4
6 Folate Phase 4
7 Vitamin B Complex Phase 4
8 Antioxidants Phase 4
9 Alpha-lipoic Acid Phase 4
10 Protective Agents Phase 4
11 Vitamins Phase 4
12 Thioctic Acid Phase 4
13 Hematinics Phase 2, Phase 3
14 Epoetin alfa Phase 2, Phase 3 113427-24-0
15 Neuroprotective Agents Phase 2, Phase 3
16
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
17
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
18 Anesthetics
19 Hypoglycemic Agents
20 Anesthetics, Local
21 Insulin, Globin Zinc
22 insulin

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
2 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
3 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
4 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
5 Percutaneous Needle Electrolysis Versus Surgery in the Treatment of Carpal Tunnel Syndrome Completed NCT04216147
6 Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) Completed NCT02194010
7 Efficacy of Shortwave Diathermy in Ulnar Nerve Entrapment on the Elbow Completed NCT04275505
8 Suprascapular Neuropathy in the Setting of Rotator Cuff Tears; Results of Arthroscopic Treatment Completed NCT02318381
9 A Prospective Non-Randomized Unblinded Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device Completed NCT01753778
10 A Prospective Study of High-resolution Ultrasonography in Examination of Lower Extremity Peripheral Nerves in Patients With Compression Neuropathies and in Healthy Controls. Completed NCT03560505
11 Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies Completed NCT02788734
12 Ultrasonographic Insulin Versus Dexamethasone Injection With Local Anestheticss in Diabetic Patients With Mild to Moderate Median Nerve Entrapement Neuropathy . Recruiting NCT04781751 insulin injection
13 Developing and Testing Instrument to Measure Physical Activity in Charcot-Marie-Tooth: a Pilot Project Enrolling by invitation NCT04461613

Search NIH Clinical Center for Neuropathy, Hereditary, with Liability to Pressure Palsies

Cochrane evidence based reviews: tomaculous neuropathy

Genetic Tests for Neuropathy, Hereditary, with Liability to Pressure Palsies

Anatomical Context for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

40
Spinal Cord, Heart, Skin, Brain, Kidney, Pancreas, Tongue

Publications for Neuropathy, Hereditary, with Liability to Pressure Palsies

Articles related to Neuropathy, Hereditary, with Liability to Pressure Palsies:

(show top 50) (show all 464)
# Title Authors PMID Year
1
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. 61 25 6 57
17620487 2007
2
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 57 6 25 61
15205993 2004
3
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 6 57 61
12439896 2002
4
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. 6 57 61
8012388 1994
5
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. 61 6 57
8422677 1993
6
Hereditary neuropathy with liability to pressure palsies: the first publication (1947). 25 57 61
12682341 2003
7
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment. 61 25 57
12427913 2002
8
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. 61 57 25
11594922 2001
9
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. 61 25 57
7501152 1995
10
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 6 25
18698610 2008
11
Neuropathy in a human without the PMP22 gene. 61 6
21670407 2011
12
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. 6 61
16437560 2006
13
Hereditary neuropathy with liability to pressure palsies in a toddler. 61 57
12499508 2002
14
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. 57 61
12084875 2002
15
Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies. 61 57
11376203 2001
16
Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. 61 57
11140948 2000
17
Hereditary neuropathy with liability to pressure palsies in children. 61 57
10593673 1999
18
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. 57 61
10545609 1999
19
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. 61 57
9973284 1999
20
Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene. 61 57
9703447 1998
21
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. 57 61
9447611 1997
22
Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. 61 57
9391880 1997
23
A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. 6 61
9040737 1997
24
Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss. 57 61
9208274 1997
25
A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. 61 57
9143558 1997
26
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? 61 57
8789446 1996
27
Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies. 57 61
8583222 1995
28
DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations. 61 57
8848937 1995
29
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. 61 6
7825607 1995
30
Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. 57 61
7991107 1994
31
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. 57 61
7944298 1994
32
DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). 61 57
7931393 1994
33
Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies. 57 61
8210227 1994
34
A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. 57 61
7909361 1994
35
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). 57 61
7903071 1994
36
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. 61 6
8252046 1993
37
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. 57 61
8396068 1993
38
Hereditary neuropathy with liability to pressure palsies in childhood. 57 61
1322507 1992
39
Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. 61 57
4345910 1972
40
HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES; A CLINICAL AND ELECTROPHYSIOLOGICAL STUDY OF FOUR FAMILIES. 57 61
14212604 1964
41
Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies. 61 25
28802056 2018
42
Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP). 25 61
27241821 2016
43
Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures. 61 25
26761923 2016
44
Chronic Inflammatory Demyelinating Polyneuropathy Manifesting as Neuropathy With Liability to Pressure Palsies: A Case Report. 25 61
26583495 2015
45
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update. 25 61
26189194 2015
46
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. 25 61
26110377 2015
47
Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies. 25 61
25005138 2015
48
Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy. 61 25
25326571 2014
49
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. 61 25
24646194 2014
50
Abnormal junctions and permeability of myelin in PMP22-deficient nerves. 25 61
24339129 2014

Variations for Neuropathy, Hereditary, with Liability to Pressure Palsies

ClinVar genetic disease variations for Neuropathy, Hereditary, with Liability to Pressure Palsies:

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.1- to 1.5-MB DEL Deletion Pathogenic 8430 GRCh37:
GRCh38:
2 PMP22 and overlap with 1 gene(s) NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del Deletion Pathogenic 8446 GRCh37:
GRCh38: 17:15239612-15260727
3 overlap with 2 genes GRCh37/hg19 2q13(chr2:110824957-110983703) copy number loss Pathogenic 625547 GRCh37: 2:110824957-110983703
GRCh38:
4 overlap with 7 genes GRCh37/hg19 17p12(chr17:14128550-15422557) copy number loss Pathogenic 625678 GRCh37: 17:14128550-15422557
GRCh38:
5 overlap with 8 genes GRCh37/hg19 17p12(chr17:14101029-15449627) copy number loss Pathogenic 625725 GRCh37: 17:14101029-15449627
GRCh38:
6 overlap with 10 genes GRCh37/hg19 17p12(chr17:14104012-15551814) copy number loss Pathogenic 625727 GRCh37: 17:14104012-15551814
GRCh38:
7 overlap with 8 genes GRCh37/hg19 17p12(chr17:14110451-15449097) copy number loss Pathogenic 625729 GRCh37: 17:14110451-15449097
GRCh38:
8 PMP22 NM_000304.4(PMP22):c.19_20del (p.Ser7fs) Deletion Pathogenic 8435 rs587776691 GRCh37: 17:15164025-15164026
GRCh38: 17:15260708-15260709
9 PMP22 NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) SNV Pathogenic 8443 rs104894623 GRCh37: 17:15142908-15142908
GRCh38: 17:15239591-15239591
10 PMP22 NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) SNV Pathogenic 8445 rs104894625 GRCh37: 17:15163980-15163980
GRCh38: 17:15260663-15260663
11 PMP22 NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) SNV Likely pathogenic 8444 rs28936682 GRCh37: 17:15134248-15134248
GRCh38: 17:15230931-15230931
12 PMP22 NM_000304.4(PMP22):c.78+3G>T SNV Likely pathogenic 803325 rs1597635528 GRCh37: 17:15163964-15163964
GRCh38: 17:15260647-15260647
13 PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs) Duplication Conflicting interpretations of pathogenicity 8437 rs80338763 GRCh37: 17:15142825-15142826
GRCh38: 17:15239508-15239509
14 PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV Conflicting interpretations of pathogenicity 8431 rs104894619 GRCh37: 17:15134364-15134364
GRCh38: 17:15231047-15231047
15 PMP22 NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) SNV Uncertain significance 892337 GRCh37: 17:15134310-15134310
GRCh38: 17:15230993-15230993
16 PMP22 NM_000304.4(PMP22):c.344C>T (p.Ala115Val) SNV Uncertain significance 888945 GRCh37: 17:15134373-15134373
GRCh38: 17:15231056-15231056
17 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain significance 462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
18 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain significance 188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
19 PMP22 NM_000304.4(PMP22):c.-34-5C>T SNV Uncertain significance 321863 rs375105159 GRCh37: 17:15164083-15164083
GRCh38: 17:15260766-15260766
20 PMP22 NM_000304.4(PMP22):c.*911C>T SNV Uncertain significance 888798 GRCh37: 17:15133323-15133323
GRCh38: 17:15230006-15230006
21 PMP22 NM_000304.4(PMP22):c.*907C>A SNV Uncertain significance 888799 GRCh37: 17:15133327-15133327
GRCh38: 17:15230010-15230010
22 PMP22 NM_000304.4(PMP22):c.*894C>T SNV Uncertain significance 888800 GRCh37: 17:15133340-15133340
GRCh38: 17:15230023-15230023
23 PMP22 NM_153321.3(PMP22):c.433dup (p.Leu145fs) Duplication Uncertain significance 637424 rs1567698872 GRCh37: 17:15134283-15134284
GRCh38: 17:15230966-15230967
24 PMP22 NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) SNV Uncertain significance 637489 rs1597597683 GRCh37: 17:15134346-15134346
GRCh38: 17:15231029-15231029
25 PMP22 NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) SNV Uncertain significance 637713 rs1597597678 GRCh37: 17:15134345-15134345
GRCh38: 17:15231028-15231028
26 PMP22 NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) SNV Uncertain significance 888946 GRCh37: 17:15142841-15142841
GRCh38: 17:15239524-15239524
27 PMP22 NM_000304.4(PMP22):c.74T>G (p.Val25Gly) SNV Uncertain significance 889626 GRCh37: 17:15163971-15163971
GRCh38: 17:15260654-15260654
28 PMP22 NM_000304.4(PMP22):c.*818T>C SNV Uncertain significance 890504 GRCh37: 17:15133416-15133416
GRCh38: 17:15230099-15230099
29 PMP22 NM_000304.4(PMP22):c.*174G>A SNV Uncertain significance 890582 GRCh37: 17:15134060-15134060
GRCh38: 17:15230743-15230743
30 PMP22 NM_000304.4(PMP22):c.*63A>C SNV Uncertain significance 890583 GRCh37: 17:15134171-15134171
GRCh38: 17:15230854-15230854
31 PMP22 NM_000304.4(PMP22):c.*596G>T SNV Uncertain significance 891068 GRCh37: 17:15133638-15133638
GRCh38: 17:15230321-15230321
32 PMP22 NM_000304.4(PMP22):c.*544C>T SNV Uncertain significance 891069 GRCh37: 17:15133690-15133690
GRCh38: 17:15230373-15230373
33 PMP22 NM_000304.4(PMP22):c.*961C>G SNV Uncertain significance 892221 GRCh37: 17:15133273-15133273
GRCh38: 17:15229956-15229956
34 PMP22 NM_000304.4(PMP22):c.197A>C (p.Gln66Pro) SNV Uncertain significance 918001 GRCh37: 17:15142910-15142910
GRCh38: 17:15239593-15239593
35 PMP22 NM_000304.3(PMP22):c.-223C>T SNV Uncertain significance 321866 rs549380262 GRCh37: 17:15168659-15168659
GRCh38: 17:15265342-15265342
36 PMP22 NM_000304.4(PMP22):c.*1049C>G SNV Uncertain significance 321847 rs750733887 GRCh37: 17:15133185-15133185
GRCh38: 17:15229868-15229868
37 PMP22 NM_000304.4(PMP22):c.*542C>T SNV Uncertain significance 321852 rs184928176 GRCh37: 17:15133692-15133692
GRCh38: 17:15230375-15230375
38 LMNA NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) SNV Uncertain significance 66844 rs57877560 GRCh37: 1:156106950-156106950
GRCh38: 1:156137159-156137159
39 PMP22 NM_000304.4(PMP22):c.*205C>A SNV Uncertain significance 321856 rs189734097 GRCh37: 17:15134029-15134029
GRCh38: 17:15230712-15230712
40 PMP22 NM_000304.4(PMP22):c.*985C>T SNV Uncertain significance 321848 rs886052610 GRCh37: 17:15133249-15133249
GRCh38: 17:15229932-15229932
41 PMP22 NM_000304.4(PMP22):c.*3C>T SNV Uncertain significance 321861 rs373690370 GRCh37: 17:15134231-15134231
GRCh38: 17:15230914-15230914
42 PMP22 NM_000304.4(PMP22):c.*243C>T SNV Uncertain significance 321854 rs533987307 GRCh37: 17:15133991-15133991
GRCh38: 17:15230674-15230674
43 PMP22 NM_000304.4(PMP22):c.*1120T>C SNV Likely benign 321845 rs11654383 GRCh37: 17:15133114-15133114
GRCh38: 17:15229797-15229797
44 PMP22 NM_000304.4(PMP22):c.*577T>C SNV Likely benign 321851 rs7538 GRCh37: 17:15133657-15133657
GRCh38: 17:15230340-15230340
45 PMP22 NM_000304.4(PMP22):c.-141C>G SNV Likely benign 321865 rs560442424 GRCh37: 17:15168577-15168577
GRCh38: 17:15265260-15265260
46 PMP22 NM_000304.4(PMP22):c.*828G>A SNV Likely benign 321850 rs13027 GRCh37: 17:15133406-15133406
GRCh38: 17:15230089-15230089
47 PMP22 NM_000304.4(PMP22):c.*228G>A SNV Likely benign 321855 rs1804193 GRCh37: 17:15134006-15134006
GRCh38: 17:15230689-15230689
48 PMP22 NM_000304.4(PMP22):c.*525_*526CT[1] Microsatellite Likely benign 321853 rs71699667 GRCh37: 17:15133706-15133707
GRCh38: 17:15230389-15230390
49 PMP22 NM_000304.4(PMP22):c.*26T>C SNV Likely benign 321860 rs200563670 GRCh37: 17:15134208-15134208
GRCh38: 17:15230891-15230891
50 PMP22 NM_000304.4(PMP22):c.*105_*109CAAAC[2] Microsatellite Likely benign 321858 rs112829799 GRCh37: 17:15134115-15134119
GRCh38: 17:15230798-15230802

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary, with Liability to Pressure Palsies:

72
# 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

Expression for Neuropathy, Hereditary, with Liability to Pressure Palsies

Search GEO for disease gene expression data for Neuropathy, Hereditary, with Liability to Pressure Palsies.

Pathways for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

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

GO Terms for Neuropathy, Hereditary, with Liability to Pressure Palsies

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fission GO:0000266 9.37 GDAP1 COX10
2 mitochondrial fusion GO:0008053 9.32 MFN2 GDAP1
3 positive regulation of myelination GO:0031643 9.26 MAG EGR2
4 myelin assembly GO:0032288 9.16 PMP22 MTMR2
5 peripheral nervous system myelin maintenance GO:0032287 8.96 SH3TC2 PRX
6 myelination GO:0042552 8.8 SBF2 MPZ EGR2

Sources for Neuropathy, Hereditary, with Liability to Pressure Palsies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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