MCID: SPN196
MIFTS: 13

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant malady

Muscle diseases category

Summaries for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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MalaCards: Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant, also known as spinal muscular atrophy, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant is DYNC1H1 (dynein, cytoplasmic 1, heavy chain 1).

Aliases & Classifications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

spinal muscular atrophy, lower extremity, autosomal dominant 20 60
spinal muscular atrophy 60


Related Diseases for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Diseases related to Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy11.6
2muscular atrophy11.6
3neuronitis11.1
4survival motor neuron spinal muscular atrophy11.0
5adult spinal muscular atrophy10.9
6spinal muscular atrophy with respiratory distress 110.9
7juvenile spinal muscular atrophy10.8
8progressive muscular atrophy10.8
9spinal muscular atrophy 110.7
10muscular dystrophy10.7
11werdnig-hoffmann disease10.7
12distal spinal muscular atrophy, type v10.7
13spinal muscular atrophy, lower extremity-predominant, ad10.6
14spinal muscular atrophy type 210.6
15spinal muscular atrophy with progressive myoclonic epilepsy10.6
16lateral sclerosis10.6
17amyotrophic lateral sclerosis10.6
18distal congenital nonprogressive spinal muscular atrophy10.6
19motor neuron disease10.6
20spinal muscular atrophy, lower extremity-predominant, 2, ad10.6
21duchenne muscular dystrophy10.5
22neuromuscular disease10.5
23spinal muscular atrophy, late-onset, finkel type10.5
24distal spinal muscular atrophy type 310.5
25spinal muscular atrophy, x-linked infantile10.5
26adult progressive spinal muscular atrophy aran duchenne type10.5
27neuropathy, distal hereditary motor, jerash type10.5
28spinal muscular atrophy, x-linked 2, infantile10.5
29intermediate spinal muscular atrophy10.4
30spinal muscular atrophy, distal, autosomal recessive, 410.4
31distal hereditary motor neuropathy type 110.4
32spinocerebellar ataxia 3510.4
33becker muscular dystrophy10.4
34charcot-marie-tooth disease10.4
35neuropathy10.4
36tooth disease10.4
37x-linked spinal-bulbar muscle atrophy10.4
38amyotrophy, neurogenic scapuloperoneal, new england type10.4
39monomelic amyotrophy10.4
40spinal muscular atrophy, distal, autosomal recessive, 510.4
41spinal muscular atrophy, distal, x-linked 310.4
42spinal muscular atrophy - dandy-walker malformation - cataracts10.4
43axonal neuropathy10.3
44olivopontocerebellar atrophy10.3
45distal hereditary motor neuropathy10.3
46limb-girdle muscular dystrophy10.3
47myopathy10.3
48arthrogryposis spinal muscular atrophy10.3
49congenital benign spinal muscular atrophy dominant10.3
50proximal spinal muscular atrophy10.3

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant:



Diseases related to spinal muscular atrophy, lower extremity, autosomal dominant

Clinical Features for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Drugs & Therapeutics for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Genetic tests related to Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant20 DYNC1H1

Anatomical Context for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Animal Models for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant or affiliated genes

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Publications for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Genetic Variations for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Expression for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Pathways for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Compounds for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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GO Terms for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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Products for genes affiliated with Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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  • Antibodies
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Sources for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet