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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/105400
http://purl.bioontology.org/ontology/OMIM/105400
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|---|---|
| Preferred Name | AMYOTROPHIC LATERAL SCLEROSIS 1 |
| Synonyms |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT
AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC
FALS
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ALS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT
AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC
FALS
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
ALS1
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|---|---|
| prefLabel | AMYOTROPHIC LATERAL SCLEROSIS 1
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| Gene Symbol |
HMND14
DCTN1
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| Scope Statement | Caused by mutation in the superoxide dismutase-1 gene (SOD-1, 147450.0001) Susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (NEFH, 162230.0001) [MOLECULAR BASIS]
Susceptibility conferred by mutation in the dynactin 1 gene (DCTN1, 601143.0002) [MOLECULAR BASIS]
Susceptibility conferred by mutation in the peripherin gene (PRPH, 170710.0001) [MOLECULAR BASIS]
Genetic heterogeneity [MISCELLANEOUS]
Approximately 10% of ALS cases are familial [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p13
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 105400
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1862941
C1862939
C3542025
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| Moved from | 158700
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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