MCID: SPS054
MIFTS: 15

Spastic Paraplegia 35 malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases categories
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Summaries for Spastic Paraplegia 35

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33MalaCards
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MalaCards: Spastic Paraplegia 35 is related to fatty acid hydroxylase-associated neurodegeneration. An important gene associated with Spastic Paraplegia 35 is FA2H (fatty acid 2-hydroxylase).

Aliases & Classifications for Spastic Paraplegia 35

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20GeneTests, 22GTR
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Classifications:



Aliases & Descriptions:

spastic paraplegia 35 20 22


Symptoms for Spastic Paraplegia 35

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Drugs & Therapeutics for Spastic Paraplegia 35

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 35

Search NIH Clinical Center for Spastic Paraplegia 35

Genetic Tests for Spastic Paraplegia 35

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20GeneTests, 22GTR
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Genetic tests related to Spastic Paraplegia 35:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 3520 22

Anatomical Context for Spastic Paraplegia 35

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Animal Models for Spastic Paraplegia 35 or affiliated genes

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Publications for Spastic Paraplegia 35

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Variations for Spastic Paraplegia 35

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Spastic Paraplegia 35:

1
id Gene Name Type Significance SNP ID Assembly Location
1FA2HNM_024306.4(FA2H): c.103G> T (p.Asp35Tyr)single nucleotide variantPathogenicrs121918217GRCh37Chr 16, 74808551: 74808551
2FA2HNM_024306.4(FA2H): c.703C> T (p.Arg235Cys)single nucleotide variantPathogenicrs387907039GRCh37Chr 16, 74752969: 74752969
3FA2HNM_024306.4(FA2H): c.460C> T (p.Arg154Cys)single nucleotide variantPathogenicrs387907040GRCh37Chr 16, 74761188: 74761188
4FA2HNM_024306.4(FA2H): c.707T> C (p.Phe236Ser)single nucleotide variantPathogenicrs387907172GRCh37Chr 16, 74752965: 74752965

Expression for genes affiliated with Spastic Paraplegia 35

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spastic Paraplegia 35

Search GEO for disease gene expression data for Spastic Paraplegia 35.

Pathways for genes affiliated with Spastic Paraplegia 35

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Compounds for genes affiliated with Spastic Paraplegia 35

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GO Terms for genes affiliated with Spastic Paraplegia 35

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Products for genes affiliated with Spastic Paraplegia 35

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spastic Paraplegia 35

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet