Details of Disease | DrugMAP

General Information of Disease (ID: DISFBV9C)

Disease Name	Infantile-onset ascending hereditary spastic paralysis
Synonyms	spastic paralysis, infantile-onset ascending; spastic paralysis, infantile onset ascending; IAHSP
Definition	Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.
Disease Hierarchy	DIS1QTFG: ALS2-related motor neuron disease DISFBV9C: Infantile-onset ascending hereditary spastic paralysis
Disease Identifiers	MONDO ID MONDO_0011797 MESH ID C537217 UMLS CUI C2931441 OMIM ID 607225 MedGen ID 419413 Orphanet ID 293168 SNOMED CT ID 703543005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALS2	OT8BAM04	Strong	Autosomal recessive	[1]
SPAST	OTIF3AJI	Definitive	Genetic Variation	[2]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.Neuropediatrics. 2019 Dec;50(6):391-394. doi: 10.1055/s-0039-1694973. Epub 2019 Sep 4.