HSP17
MCID: SPS027
MIFTS: 23

Spastic Paraplegia 17 (HSP17) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases

Aliases & Classifications for Spastic Paraplegia 17

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Aliases & Descriptions for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 48 24 27 68
Spg17 48 24
Spastic Paraplegia with Amyotrophy of Hands and Feet 48
Autosomal Dominant Spastic Paraplegia Type 17 48
Silver Spastic Paraplegia Syndrome 48
 
Silver Spastic Paraplegia 24
Russell-Silver Syndrome 68
Silver Syndrome 48
Spg 17 24
Hsp17 24

Classifications:



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).

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:

idRelated DiseaseScoreTop Affiliating Genes
1silver spastic paraplegia syndrome11.9
2der kaloustian mcintosh silver syndrome11.8
3silver-russell syndrome11.7
4chromosome 11p15.5-related russell-silver syndrome11.7
5chromosome 7-related russell-silver syndrome11.7
6ceroid lipofuscinosis, neuronal, 13, kufs type9.8BSCL2, CDKN1C
7paraplegia9.8
8spasticity9.8
9spastic paraplegia 399.7BSCL2, CDKN1C

Graphical network of diseases related to Spastic Paraplegia 17:



Diseases related to spastic paraplegia 17

Symptoms & Phenotypes for Spastic Paraplegia 17

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UMLS symptoms related to Spastic Paraplegia 17:


lower limb muscle weakness

Drugs & Therapeutics for Spastic Paraplegia 17

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Spastic Paraplegia 17

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 1727 24 BSCL2

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:

idTitleAuthorsYear
1
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (18585921)
2008

Variations for Spastic Paraplegia 17

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Expression for genes affiliated with Spastic Paraplegia 17

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

Pathways for genes affiliated with Spastic Paraplegia 17

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GO Terms for genes affiliated with Spastic Paraplegia 17

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Sources for Spastic Paraplegia 17

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet