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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607225
http://purl.bioontology.org/ontology/OMIM/607225
|
|---|---|
| Preferred Name | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING |
| Synonyms |
IAHSP
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IAHSP
|
|---|---|
| prefLabel | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
|
| Gene Symbol |
ALSJ
IAHSP
ALS2
PLSJ
|
| Scope Statement | Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, 606352.0005) [MOLECULAR BASIS]
Onset within first 2 years of life [MISCELLANEOUS]
Most patients become wheelchair-bound [MISCELLANEOUS]
Allelic disorder to juvenile-onset amyotrophic lateral sclerosis (ALS2, 205100) [MISCELLANEOUS]
Some patients never achieve walking or running [MISCELLANEOUS]
Allelic disorder to juvenile primary lateral sclerosis (PLSJ, 606353) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607225
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2931441
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |