HNPP
MCID: NRP016
MIFTS: 21

Neuropathy, Recurrent, with Pressure Palsies (HNPP) malady

Neuronal, Fetal categories

Summaries for Neuropathy, Recurrent, with Pressure Palsies

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47OMIM, 33MalaCards
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MalaCards: Neuropathy, Recurrent, with Pressure Palsies, also known as hereditary neuropathy with liability to pressure palsies, is related to charcot-marie-tooth neuropathy type 1 and charcot-marie-tooth hereditary neuropathy, 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)).

Description from OMIM:47 162500

Aliases & Classifications for Neuropathy, Recurrent, with Pressure Palsies

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
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 47
hereditary neuropathy with liability to pressure palsies 49
hereditary liability to pressure palsies 61
current pressure-sensitive neuropathy 49
heterozygous microdeletion 17p11.2p12 49
tulip-bulb digger's palsy 49
bulbar palsy, progressive 61
tomaculous neuropathy 49
potato-grubbing palsy 49
hnpp 49


External Ids:

ICD10 via Orphanet26 G60.0
OMIM47 162500

Related Diseases for Neuropathy, Recurrent, with Pressure Palsies

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neuropathy, Recurrent, with Pressure Palsies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth neuropathy type 130.7PMP22
2charcot-marie-tooth hereditary neuropathy11.2
3hereditary neuropathy with liability to pressure palsies11.1
4tooth disease11.1
5chromosome 17p deletion10.8
6hereditary neuropathy with liability to pressure palsy10.8
7hereditary neuropathies10.8
8carpal tunnel syndrome10.7
9n syndrome10.7
10brachial plexus neuropathy10.7
11hereditary neuralgic amyotrophy10.7
12progressive bulbar palsy10.6
13lateral sclerosis10.6
14peroneal neuropathy10.6
15amyotrophic lateral sclerosis10.6
16foot drop10.6
17axonal neuropathy10.5
18pelizaeus-merzbacher disease10.5
19median neuropathy10.5
20oculopharyngeal muscular dystrophy10.5
21chronic inflammatory demyelinating polyradiculoneuropathy10.5
22autosomal dominant disease10.5
23autosomal recessive disease10.5
24amyloid neuropathy10.5
25hereditary type 1 neuropathy10.5
26myoclonus10.5
27neuropathy, inflammatory demyelinating10.5
28hereditary thermosensitive neuropathy10.5
29hereditary congenital facial paresis 310.4
30charcot-marie-tooth disease type 110.2
31char syndrome10.2
32neuropathy10.0PMP22
33charcot-marie-tooth disease10.0PMP22
34charcot-marie-tooth disease type 1e10.0PMP22, CMT1A
35charcot-marie-tooth disease type 1a10.0CMT1A, PMP22
36charcot-marie-tooth disease type 310.0PMP22, CMT1A
37sciatic neuropathy10.0
38chromosome 17p duplication10.0

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



Diseases related to neuropathy, recurrent, with pressure palsies

Clinical Features for Neuropathy, Recurrent, with Pressure Palsies

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

162500

Clinical synopsis from OMIM:

162500

Symptoms:

49 (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

Drugs & Therapeutics for Neuropathy, Recurrent, with Pressure Palsies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Neuropathy, Recurrent, with Pressure Palsies

Drug clinical trials:

Search ClinicalTrials for Neuropathy, Recurrent, with Pressure Palsies

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

Search CenterWatch for Neuropathy, Recurrent, with Pressure Palsies

Genetic Tests for Neuropathy, Recurrent, with Pressure Palsies

Anatomical Context for Neuropathy, Recurrent, with Pressure Palsies

Animal Models for Neuropathy, Recurrent, with Pressure Palsies or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Neuropathy, Recurrent, with Pressure Palsies

Genetic Variations for Neuropathy, Recurrent, with Pressure Palsies

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:

63
id Symbol AA change Variation SNP ID
1PMP22p.Val30MetVAR_009659
2PMP22p.Ser22PheVAR_029960
3PMP22p.Ala67ThrVAR_029965

Expression for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

GO Terms for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

Products for genes affiliated with Neuropathy, Recurrent, with Pressure Palsies

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  • Proteins
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  • Antibodies

Sources for Neuropathy, Recurrent, with Pressure Palsies

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet