Details of Disease

General Information of Disease (ID: DISYCR9Q)

Disease Name Neuropathy, hereditary sensory and autonomic, type 2B
Synonyms
neuropathy, hereditary sensory and autonomic, type IIB; hereditary sensory and autonomic neuropathy type 2B; neuropathy, hereditary sensory and autonomic, type 2B; hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1; hereditary sensory and autonomic neuropathy type IIB; RETREG1 hereditary sensory and autonomic neuropathy type 2; HSAN2B
Definition Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.
Disease Hierarchy
DIS4TP1G: Hereditary sensory and autonomic neuropathy type 2
DISYCR9Q: Neuropathy, hereditary sensory and autonomic, type 2B
Disease Identifiers
MONDO ID
MONDO_0013142
MESH ID
C567738
UMLS CUI
C2751092
OMIM ID
613115
MedGen ID
413474
SNOMED CT ID
860810005

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
RETREG1 OTYOSLZX Definitive Autosomal recessive [1]
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References

1 Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.