Details of Disease | DrugMAP

General Information of Disease (ID: DISOTIUZ)

Disease Name	Amyotrophic neuralgia
Synonyms	HNA; neuralgic amyotrophy; hereditary neuralgic amyotrophy; amyotrophy, hereditary neuralgic, with predilection for brachial plexus; neuritis with brachial predilection; amyotrophy, hereditary neuralgic; hereditary brachial plexus neuropathy; brachial plexus neuropathy, hereditary
Definition	An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISN6V40: Brachial plexus neuropathy DISOTIUZ: Amyotrophic neuralgia
Disease Identifiers	MONDO ID MONDO_0008076 MESH ID D020968 UMLS CUI C1834304 OMIM ID 162100 MedGen ID 320318

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SEPTIN11	OTX2O0ZX	Strong	Genetic Variation	[1]
SEPTIN4	OTD16B30	Strong	Genetic Variation	[1]
SEPTIN9	OT1VMRFQ	Strong	Autosomal dominant	[2]
STATH	OTQHBHM9	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

References

1	SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.Hum Mutat. 2007 Oct;28(10):1005-13. doi: 10.1002/humu.20554.
2	Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25.
3	A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.Genomics. 1999 Dec 1;62(2):242-50. doi: 10.1006/geno.1999.5991.