HNPP
MCID: NRP016
MIFTS: 27

Neuropathy, Recurrent, with Pressure Palsies (HNPP) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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48OMIM, 34MalaCards
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MalaCards: 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 flat palm, pes cavus and paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness. 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:48 162500

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

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50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hereditary neuropathy with liability to pressure palsies:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

neuropathy, recurrent, with pressure palsies 48
hereditary neuropathy with liability to pressure palsies 50
hereditary liability to pressure palsies 63
current pressure-sensitive neuropathy 50
heterozygous microdeletion 17p11.2p12 50
tulip-bulb digger's palsy 50
bulbar palsy, progressive 63
tomaculous neuropathy 50
potato-grubbing palsy 50
hnpp 50


External Ids:

ICD10 via Orphanet27 G60.0
OMIM48 162500
UMLS via Orphanet64 C0393814
SNOMED-CT via Orphanet60 230558006

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

162500

Clinical features from OMIM:

162500

Symptoms:

50 (show all 13)
  • flat palm
  • pes cavus
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • areflexia/hyporeflexia
  • insterstitial/subtelomeric microdeletion/deletion
  • peripheral neuropathy
  • abnormal cry/voice/phonation disorder/nasal speech
  • cranial nerves palsy
  • nerve conduction abnormality
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal dominant inheritance
  • motor deficit/trouble
  • scoliosis

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Neuropathy, Recurrent, with Pressure Palsies

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Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

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34MalaCards
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MalaCards organs/tissues related to Neuropathy, Recurrent, with Pressure Palsies:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

65
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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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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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Sources for Neuropathy, Recurrent, with Pressure Palsies

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet