Neuropathy, Recurrent, with Pressure Palsies malady
Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Neuropathy, Recurrent, with Pressure Palsies:
Orphanet epidemiological data:53
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
neuropathy, recurrent, with pressure palsies:
Inheritance: autosomal dominant inheritance
Penetrance: many individuals with the pmp22 1.5-mb deletion have few (or no) symptoms and remain undiagnosed. the penetrance is not known...
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases
ICD10: 30 29
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 hereditary neuropathy with liability to pressure palsy and hereditary motor and sensory neuropathy via, and has symptoms including decreased nerve conduction velocity, scoliosis and paresthesia. An important gene associated with Neuropathy, Recurrent, with Pressure Palsies is PMP22 (Peripheral Myelin Protein 22). Affiliated tissues include spinal cord and brain, and related mouse phenotype muscle.
Disease Ontology:11 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:69 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:51 162500
GeneReviews for NBK1392
Human phenotypes related to Neuropathy, Recurrent, with Pressure Palsies:63 53 (show all 14)
UMLS symptoms related to Neuropathy, Recurrent, with Pressure Palsies:neuralgia, muscle spasticity, spasm, chills, muscle weakness, rectal tenesmus, psoas sign, diaphragmatic paresis, myokymia, muscle fibrosis, trendelenburg's symptom, uvular spasm, neuromuscular pain
MalaCards organs/tissues related to Neuropathy, Recurrent, with Pressure Palsies:35
Spinal cord, Brain
UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:69
Clinvar genetic disease variations for Neuropathy, Recurrent, with Pressure Palsies:5
Search GEO for disease gene expression data for Neuropathy, Recurrent, with Pressure Palsies.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet