MCID: SLV005
MIFTS: 14

Silver Spastic Paraplegia Syndrome malady

Genetic diseases (common) category

Summaries for Silver Spastic Paraplegia Syndrome

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MalaCards based summary: Silver Spastic Paraplegia Syndrome, also known as spastic paraplegia 17, autosomal dominant, is related to spastic paraplegia 17, and has symptoms including autosomal dominant inheritance, hyperreflexia and pes cavus. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)).

Description from OMIM:45 270685

Aliases & Classifications for Silver Spastic Paraplegia Syndrome

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Silver Spastic Paraplegia Syndrome, Aliases & Descriptions:

Name: Silver Spastic Paraplegia Syndrome 45 10
Spastic Paraplegia 17, Autosomal Dominant 45
 
Spastic Paraplegia 17 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 270685

Related Diseases for Silver Spastic Paraplegia Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 1710.5

Symptoms for Silver Spastic Paraplegia Syndrome

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Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

HPO human phenotypes related to Silver Spastic Paraplegia Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperreflexia HP:0001347
3 pes cavus HP:0001761
4 lower limb spasticity HP:0002061
5 spastic gait HP:0002064
6 impaired vibration sensation in the lower limbs HP:0002166
7 first dorsal interossei muscle weakness HP:0003392
8 thenar muscle atrophy HP:0003393
9 first dorsal interossei muscle atrophy HP:0003426
10 thenar muscle weakness HP:0003427
11 babinski sign HP:0003487
12 slow progression HP:0003677
13 lower limb muscle weakness HP:0007340

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

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Drug clinical trials:

Search ClinicalTrials for Silver Spastic Paraplegia Syndrome

Search NIH Clinical Center for Silver Spastic Paraplegia Syndrome

Genetic Tests for Silver Spastic Paraplegia Syndrome

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Anatomical Context for Silver Spastic Paraplegia Syndrome

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Animal Models for Silver Spastic Paraplegia Syndrome or affiliated genes

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Publications for Silver Spastic Paraplegia Syndrome

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Variations for Silver Spastic Paraplegia Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Silver Spastic Paraplegia Syndrome:

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

Clinvar genetic disease variations for Silver Spastic Paraplegia Syndrome:

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 Silver Spastic Paraplegia Syndrome

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Search GEO for disease gene expression data for Silver Spastic Paraplegia Syndrome.

Pathways for genes affiliated with Silver Spastic Paraplegia Syndrome

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Compounds for genes affiliated with Silver Spastic Paraplegia Syndrome

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GO Terms for genes affiliated with Silver Spastic Paraplegia Syndrome

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Products for genes affiliated with Silver Spastic Paraplegia Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Silver Spastic Paraplegia Syndrome

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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