HNPP
MCID: NRP016
MIFTS: 27

Neuropathy, Recurrent, with Pressure Palsies (HNPP) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Neuropathy, Recurrent, with Pressure Palsies

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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 peripheral neuropathy, nerve conduction abnormality and autosomal dominant inheritance. 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 lung.

Description from OMIM:46 162500

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Neuropathy, Recurrent, with Pressure Palsies 46
Hereditary Neuropathy with Liability to Pressure Palsies 48 62
Tomaculous Neuropathy 48 62
Hnpp 48 62
 
Heterozygous Microdeletion 17p11.2p12 48
Current Pressure-Sensitive Neuropathy 48
Tulip-Bulb Digger's Palsy 48
Potato-Grubbing Palsy 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hereditary neuropathy with liability to pressure palsies:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 162500
ICD10 via Orphanet26 G60.0
UMLS via Orphanet63 C0393814

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

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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:

48 (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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Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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

32
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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Neuropathy, Recurrent, with Pressure Palsies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet