Details of Disease

General Information of Disease (ID: DISSYRHC)

Disease Name Hereditary peripheral neuropathy
Synonyms genetic peripheral neuropathy
Definition An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
Disease Hierarchy
DISLG2RO: Hereditary neuromuscular disease
DIS7KN5G: Peripheral neuropathy
DISSYRHC: Hereditary peripheral neuropathy
Disease Identifiers
MONDO ID
MONDO_0020127
UMLS CUI
C5681733
MedGen ID
1825937
Orphanet ID
98497

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IGHMBP2 OTAZFPF5 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.