SPG17
MCID: SPS027
MIFTS: 29

Spastic Paraplegia 17 (SPG17) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases categories

Summaries for Spastic Paraplegia 17

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48OMIM, 34MalaCards
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MalaCards: Spastic Paraplegia 17, also known as silver syndrome, is related to silver-russell syndrome and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)).

Description from OMIM:48 270685

Aliases & Classifications for Spastic Paraplegia 17

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Sources:
63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spastic paraplegia 17 44 21 23 22 63
silver syndrome 44 21 22 50
silver spastic paraplegia syndrome 44 22 48
spg17 44 22 50
spastic paraplegia with amyotrophy of hands and feet 44 22
autosomal dominant spastic paraplegia type 17 44 50
spastic paraplegia-amyotrophy of hands and feet 50
distal hereditary motor neuropathy type 5b 50
russell-silver syndrome 63
dhmn5b 50


External Ids:

OMIM48 270685
ICD10 via Orphanet27 G11.4

Related Diseases for Spastic Paraplegia 17

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Spastic Paraplegia 1 family:

Hereditary Spastic Paraplegia Spastic Paraplegia 3a
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
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 2
Spastic Paraplegia 20 Spastic Paraplegia 23
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 31
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia 33 Spastic Paraplegia 42
Spastic Paraplegia 30 Spastic Paraplegia 48
Spastic Paraplegia 35 Spastic Paraplegia 44
Spastic Paraplegia 63 Spastic Paraplegia 64
Spastic Paraplegia 45

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome10.5
2hereditary spastic paraplegia10.3
3neuropathy10.3
4der kaloustian mcintosh silver syndrome10.3
5distal hereditary motor neuropathy10.3
6paraplegia10.2
7spasticity10.2
8partington syndrome10.1
9chromosome 11p15.5-related russell-silver syndrome10.1
10chromosome 7-related russell-silver syndrome10.1
11bscl2-related neurologic disorders/seipinopathy10.1
12lichen nitidus10.0
13dilated cardiomyopathy10.0
14dystonia10.0
15learning disability10.0
16myoclonus-dystonia10.0
17horseshoe kidney10.0
18mosaic trisomy 710.0
19ring chromosome 1510.0
20silvery hair syndrome10.0
21distal hereditary motor neuropathy type v10.0
22myoclonus10.0
23hemihypertrophy10.0
24radio-ulnar synostosis - intellectual disability - hypotonia10.0
25polyploidy10.0

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



Diseases related to spastic paraplegia 17

Symptoms for Spastic Paraplegia 17

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

Drugs & Therapeutics for Spastic Paraplegia 17

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Spastic Paraplegia 17

Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 17

Search NIH Clinical Center for Spastic Paraplegia 17

Search CenterWatch for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

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21GeneTests, 23GTR
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Genetic tests related to Spastic Paraplegia 17:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 1721 23
2 Silver Syndrome21

Anatomical Context for Spastic Paraplegia 17

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Animal Models for Spastic Paraplegia 17 or affiliated genes

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Publications for Spastic Paraplegia 17

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53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17:

65
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375
2BSCL2p.Ser90LeuVAR_022376

Clinvar genetic disease variations for Spastic Paraplegia 17:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.455A> G (p.Asn152Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971

Expression for genes affiliated with Spastic Paraplegia 17

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spastic Paraplegia 17

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

Pathways for genes affiliated with Spastic Paraplegia 17

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Compounds for genes affiliated with Spastic Paraplegia 17

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GO Terms for genes affiliated with Spastic Paraplegia 17

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Products for genes affiliated with Spastic Paraplegia 17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spastic Paraplegia 17

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet