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
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Summaries for Spastic Paraplegia 17

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.

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:47 270685

Aliases & Classifications for Spastic Paraplegia 17

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Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spastic paraplegia 17 43 20 22 21 62
silver syndrome 43 20 21 49
silver spastic paraplegia syndrome 43 21 47
spg17 43 21 49
spastic paraplegia with amyotrophy of hands and feet 43 21
autosomal dominant spastic paraplegia type 17 43 49
spastic paraplegia-amyotrophy of hands and feet 49
distal hereditary motor neuropathy type 5b 49
russell-silver syndrome 62
dhmn5b 49


External Ids:

OMIM47 270685
ICD10 via Orphanet26 G11.4

Related Diseases for Spastic Paraplegia 17

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 17

Search NIH Clinical Center for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

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20GeneTests, 22GTR
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Genetic tests related to Spastic Paraplegia 17:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 1720 22
2 Silver Syndrome20

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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52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17:

64
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, 15Gene 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
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