Details of Disease

General Information of Disease (ID: DISHBBEM)

Disease Name X-linked hereditary sensory and autonomic neuropathy with hearing loss
Synonyms
auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy; DFNX5; deafness, X-linked 5; deafness, X-linked 5, X-linked recessive; X-linked hereditary sensory and autonomic neuropathy with deafness; X-linked HSAN with deafness; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; X-linked hereditary sensory and autonomic neuropathy with hearing loss
Definition This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
Disease Hierarchy
DISSWCJS: X-linked nonsyndromic hearing loss
DIS2VOAM: Hereditary sensory and autonomic neuropathy
DISM6GAU: Auditory neuropathy
DISHBBEM: X-linked hereditary sensory and autonomic neuropathy with hearing loss
Disease Identifiers
MONDO ID
MONDO_0010378
UMLS CUI
C4304400
MedGen ID
930069
Orphanet ID
139583
SNOMED CT ID
719838008

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
AIFM1 OTKPWB7Q Definitive X-linked [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.