Details of Disease

General Information of Disease (ID: DISZUW4L)

Disease Name Neuropathy, congenital hypomelinating
Synonyms CHN
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DIS2BIP8: Congenital nervous system disorder
DISZUW4L: Neuropathy, congenital hypomelinating
Disease Identifiers
MONDO ID
MONDO_0033352
MESH ID
C535301
UMLS CUI
C0393818
MedGen ID
97965
SNOMED CT ID
230562000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RNMT TTG45HY Strong Biomarker [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAD2L1BP OT2O2IUJ Limited Genetic Variation [2]
MPZ OTAR2YXH Limited Genetic Variation [3]
NAB1 OTEWHIZR Limited Biomarker [4]
NAB2 OTG4BDF3 Limited Biomarker [4]
CNTNAP1 OT5Y03EU Strong Biomarker [5]
EGR2 OTAVQ78J Strong Genetic Variation [6]
PMP22 OTXWYWCZ Strong Genetic Variation [3]
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⏷ Show the Full List of 7 DOT(s)

References

1 Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43.
2 Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.Acta Biochim Pol. 2004;51(1):273-80.
3 Homozygous splice-site mutation c.78 +?G>A in PMP22 causes congenital hypomyelinating neuropathy.Neuropathology. 2019 Dec;39(6):441-446. doi: 10.1111/neup.12604. Epub 2019 Nov 27.
4 Nab proteins are essential for peripheral nervous system myelination.Nat Neurosci. 2005 Jul;8(7):932-40. doi: 10.1038/nn1490.
5 CNTNAP1-Related Congenital Hypomyelinating Neuropathy.Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28.
6 A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.J Peripher Nerv Syst. 2019 Jun;24(2):219-223. doi: 10.1111/jns.12314. Epub 2019 Mar 28.