MCID: SPS027
MIFTS: 26

Spastic Paraplegia 17 malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Eye diseases, Mental diseases categories

Summaries for Spastic Paraplegia 17

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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 based summary: Spastic Paraplegia 17, also known as silver syndrome, is related to silver-russell syndrome and silver spastic paraplegia syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Aliases & Classifications for Spastic Paraplegia 17

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Spastic Paraplegia 17, Aliases & Descriptions:

Name: Spastic Paraplegia 17 41 20 21 22 60
Silver Syndrome 41 20 21 47
Spg17 41 21 47
Spastic Paraplegia with Amyotrophy of Hands and Feet 41 21
Spastic Paraplegia-Amyotrophy of Hands and Feet 41 47
Autosomal Dominant Spastic Paraplegia Type 17 41 47
 
Distal Hereditary Motor Neuropathy Type 5b 41 47
Silver Spastic Paraplegia Syndrome 41 21
Dhmn5b 41 47
Neuronopathy, Distal Hereditary Motor, Type Vb 60
Russell-Silver Syndrome 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

Orphanet47 100998
ICD10 via Orphanet26 G11.4

Related Diseases for Spastic Paraplegia 17

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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, 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 9, Autosomal Dominant
Spastic Paraplegia 33, Autosomal Dominant 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 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 63
Spastic Paraplegia 64 Spastic Paraplegia 45
Spastic Paraplegia 3a, Autosomal Dominant Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 7
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 2 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
Autosomal Recessive Spastic Paraplegia Type 62 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 Autosomal Recessive Spastic Paraplegia Type 58

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome10.6
2silver spastic paraplegia syndrome10.4
3der kaloustian mcintosh silver syndrome10.4
4hereditary spastic paraplegia10.3
5neuropathy10.3
6distal hereditary motor neuropathy10.3
7paraplegia10.2
8spasticity10.2
9chromosome 11p15.5-related russell-silver syndrome10.2
10chromosome 7-related russell-silver syndrome10.2
11partington syndrome10.1
12radio-ulnar synostosis - intellectual disability - hypotonia10.1
13bscl2-related neurologic disorders/seipinopathy10.1
14atherosclerosis10.0
15dilated cardiomyopathy10.0
16lichen nitidus10.0
17cerebritis10.0
18dystonia10.0
19learning disability10.0
20horseshoe kidney10.0
21mosaic trisomy 710.0
22ring chromosome 1510.0
23distal hereditary motor neuropathy type v10.0
24aneurysm10.0
25cerebral aneurysms10.0
26myoclonus10.0

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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Drugs & Therapeutics for Spastic Paraplegia 17

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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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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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MalaCards organs/tissues related to Spastic Paraplegia 17:

31
Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

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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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Clinvar genetic disease variations for Spastic Paraplegia 17:

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Spastic Paraplegia 17

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet