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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/182600
http://purl.bioontology.org/ontology/OMIM/182600
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT |
| Synonyms |
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1
SPG3A
FSP1
SPG3
STRUMPELL DISEASE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1
SPG3A
FSP1
SPG3
STRUMPELL DISEASE
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
|
| Gene Symbol |
ATL1
SPG3A
HSN1D
|
| Scope Statement | Caused by mutation in the atlastin gene (SPG3A, 606439.0001) [MOLECULAR BASIS]
Highly variable severity [MISCELLANEOUS]
Insidious onset [MISCELLANEOUS]
Variable progression [MISCELLANEOUS]
Usually shows early age at onset (range 1 to 7 years, mean 4.6 years) [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Reduced penetrance [MISCELLANEOUS]
Most patients need assistance walking or are wheelchair-bound [MISCELLANEOUS]
Later onset has been rarely reported (up to age 68 years) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q11-q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 182600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2931355
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |