Details of Disease | DrugMAP

General Information of Disease (ID: DISEL12B)

Disease Name	Hereditary sensory and autonomic neuropathy with spastic paraplegia
Synonyms	neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive; hereditary sensory and autonomic neuropathy with spastic paraplegia; HSAN with spastic paraplegia
Definition	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS9KXQY: Complex hereditary spastic paraplegia DISEL12B: Hereditary sensory and autonomic neuropathy with spastic paraplegia
Disease Identifiers	MONDO ID MONDO_0009748 MESH ID C564948 UMLS CUI C1850395 OMIM ID 256840 MedGen ID 342492 Orphanet ID 139578

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
CCT5	OTPZ38BT	Supportive	Autosomal recessive	[1]
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References

1	Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet. 2006 May;43(5):441-3. doi: 10.1136/jmg.2005.039230. Epub 2006 Jan 6.