SPG17
MCID: SPS027
MIFTS: 28

Spastic Paraplegia 17 (SPG17) malady

Neuronal diseases category

Summaries for Spastic Paraplegia 17

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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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 der kaloustian mcintosh silver syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Description from OMIM:46 270685

Aliases & Classifications for Spastic Paraplegia 17

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


Aliases & Descriptions:

spastic paraplegia 17 42 20 22 21 60
silver syndrome 42 20 21 48
silver spastic paraplegia syndrome 42 21 46
spg17 42 21 48
spastic paraplegia with amyotrophy of hands and feet 42 21
autosomal dominant spastic paraplegia type 17 42 48
spastic paraplegia-amyotrophy of hands and feet 48
distal hereditary motor neuropathy type 5b 48
russell-silver syndrome 60
dhmn5b 48


External Ids:

OMIM46 270685
ICD10 via Orphanet26 G11.4

Related Diseases for Spastic Paraplegia 17

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Spastic Paraplegia 17:



Diseases related to spastic paraplegia 17

Clinical Features for Spastic Paraplegia 17

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46OMIM
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Clinical features from OMIM:

270685

Clinical synopsis from OMIM:

270685

Drugs & Therapeutics for Spastic Paraplegia 17

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spastic Paraplegia 17

Drug clinical trials:

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Search NIH Clinical Center for Spastic Paraplegia 17

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Spastic Paraplegia 17:

32
Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

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Publications for Spastic Paraplegia 17

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Genetic Variations for Spastic Paraplegia 17

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Spastic Paraplegia 17:

62
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375
2BSCL2p.Ser90LeuVAR_022376

Expression for genes affiliated with Spastic Paraplegia 17

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet