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HSP17
MCID: SPS027
MIFTS: 23

Spastic Paraplegia 17 (HSP17) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Spastic Paraplegia 17

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Aliases & Descriptions for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 50 24 24 29 69
Spg17 50 24
Spastic Paraplegia with Amyotrophy of Hands and Feet 50
Autosomal Dominant Spastic Paraplegia Type 17 50
Silver Spastic Paraplegia Syndrome 50
Silver Spastic Paraplegia 24
Russell-Silver Syndrome 69
Silver Syndrome 50
Spg 17 24
Hsp17 24

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Spastic Paraplegia 17

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MalaCards based summary : Spastic Paraplegia 17, also known as spg17, is related to silver spastic paraplegia syndrome and der kaloustian mcintosh silver syndrome, and has symptoms including lower limb muscle weakness An important gene associated with Spastic Paraplegia 17 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated).

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Related Diseases for Spastic Paraplegia 17

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 63
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 23
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 4, Autosomal Dominant Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 14, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 8, Autosomal Dominant Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 19, Autosomal Dominant Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 64, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive
Spastic Paraplegia 45, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 3a, Autosomal Dominant
Spastic Paraplegia 52, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 28, Autosomal Recessive Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia 75 Hereditary Spastic Paraplegia 76
Hereditary Spastic Paraplegia 77 Spastic Paraplegia 4
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 1 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 31
Spastic Paraplegia 32 Spastic Paraplegia 39
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia 28
Spastic Paraplegia 30 Spastic Paraplegia 33
Spastic Paraplegia 35 Spastic Paraplegia 42
Spastic Paraplegia 43 Spastic Paraplegia 45
Spastic Paraplegia 46 Spastic Paraplegia 47
Spastic Paraplegia 48 Spastic Paraplegia 49
Spastic Paraplegia 50 Spastic Paraplegia 52
Spastic Paraplegia 53 Spastic Paraplegia 54
Spastic Paraplegia 55 Spastic Paraplegia 56
Spastic Paraplegia 57 Spastic Paraplegia 59
Spastic Paraplegia 61 Spastic Paraplegia 62
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67
Spastic Paraplegia 78, Autosomal Recessive

Diseases related to Spastic Paraplegia 17 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 silver spastic paraplegia syndrome 11.9
2 der kaloustian mcintosh silver syndrome 11.8
3 silver-russell syndrome 11.7
4 chromosome 11p15.5-related russell-silver syndrome 11.7
5 chromosome 7-related russell-silver syndrome 11.7
6 ceroid lipofuscinosis, neuronal, 13, kufs type 9.8 BSCL2 CDKN1C
7 paraplegia 9.8
8 spasticity 9.8
9 spastic paraplegia 39 9.7 BSCL2 CDKN1C

Graphical network of the top 20 diseases related to Spastic Paraplegia 17:



Diseases related to Spastic Paraplegia 17
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Symptoms & Phenotypes for Spastic Paraplegia 17

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UMLS symptoms related to Spastic Paraplegia 17:


lower limb muscle weakness
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Drugs & Therapeutics for Spastic Paraplegia 17

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Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Paraplegia 17

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Genetic Tests for Spastic Paraplegia 17

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Genetic tests related to Spastic Paraplegia 17:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 17 29 24 BSCL2
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Anatomical Context for Spastic Paraplegia 17

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Publications for Spastic Paraplegia 17

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Articles related to Spastic Paraplegia 17:

id Title Authors Year
1
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. ( 18585921 )
2008
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Variations for Spastic Paraplegia 17

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ClinVar genetic disease variations for Spastic Paraplegia 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
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Expression for Spastic Paraplegia 17

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Search GEO for disease gene expression data for Spastic Paraplegia 17.
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Pathways for Spastic Paraplegia 17

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GO Terms for Spastic Paraplegia 17

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Sources for Spastic Paraplegia 17

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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