SPG17
MCID: SPS027
MIFTS: 23

Spastic Paraplegia 17 (SPG17) malady

Neuronal category

Summaries for Spastic Paraplegia 17

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 partington syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Description from OMIM:47 270685

Aliases & Classifications for Spastic Paraplegia 17

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

spastic paraplegia 17 43 20 22 21 61
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 61
dhmn5b 49


External Ids:

OMIM47 270685
ICD10 via Orphanet26 G11.4

Related Diseases for Spastic Paraplegia 17

Sources:
17GeneCards, 18GeneDecks
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Diseases in the spastic paraplegia 11 family:

spastic paraplegia 3a spastic paraplegia 4
spastic paraplegia 7 spastic paraplegia 8
spastic paraplegia 1 spastic paraplegia 51
spastic paraplegia 9 spastic paraplegia 10
spastic paraplegia 17 spastic paraplegia 5a
spastic paraplegia 20 spastic paraplegia 23
spastic paraplegia 6 spastic paraplegia with precocious puberty
spastic paraplegia 18 spastic paraplegia 15
spastic paraplegia 39 spastic paraplegia 12
spastic paraplegia 13 spastic paraplegia 14
spastic paraplegia 16 spastic paraplegia 19
spastic paraplegia 2 spastic paraplegia 24
spastic paraplegia 25 spastic paraplegia 26
spastic paraplegia 29 spastic paraplegia 3
spastic paraplegia 31 spastic paraplegia 5b
spastic paraplegia 33 spastic paraplegia 42
spastic paraplegia 30 spastic paraplegia 48
spastic paraplegia 35 spastic paraplegia 44

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome10.9
2partington syndrome10.4
3chromosome 11p15.5-related russell-silver syndrome10.4
4chromosome 7-related russell-silver syndrome10.4
5der kaloustian mcintosh silver syndrome10.3
6distal hereditary motor neuropathy10.2
7lichen nitidus10.2
8myoclonus-dystonia10.2
9horseshoe kidney10.2
10kid syndrome10.2
11silvery hair syndrome10.2
12myoclonus10.2
13hemihypertrophy10.2
14polyploidy10.2
15radio-ulnar synostosis - intellectual deficit - hypotonia10.1
16bscl2-related neurologic disorders/seipinopathy10.0
17spastic paraplegia 119.9
18spastic paraplegia 19.9

Graphical network of diseases related to Spastic Paraplegia 17:



Diseases related to spastic paraplegia 17

Clinical Features for Spastic Paraplegia 17

Sources:
47OMIM
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Clinical features from OMIM:

270685

Clinical synopsis from OMIM:

270685

Drugs & Therapeutics for Spastic Paraplegia 17

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Spastic Paraplegia 17:

33
Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Spastic Paraplegia 17

Genetic Variations for Spastic Paraplegia 17

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spastic Paraplegia 17:

63
id Symbol AA change Variation SNP ID
1BSCL2p.Asn88SerVAR_022375
2BSCL2p.Ser90LeuVAR_022376

Expression for genes affiliated with Spastic Paraplegia 17

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

Compounds for genes affiliated with Spastic Paraplegia 17

GO Terms for genes affiliated with Spastic Paraplegia 17

Products for genes affiliated with Spastic Paraplegia 17

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spastic Paraplegia 17

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet