Details of Disease | DrugMAP

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.