MCID: SLV005
MIFTS: 23

Silver Spastic Paraplegia Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Silver Spastic Paraplegia Syndrome

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Aliases & Descriptions for Silver Spastic Paraplegia Syndrome:

Name: Silver Spastic Paraplegia Syndrome 49 11 67
Spastic Paraplegia with Amyotrophy of Hands and Feet 67
Spastic Paraplegia 17, Autosomal Dominant 67
 
Spastic Paraplegia 17 65
Silver Syndrome 67
Spg17 67


Classifications:



External Ids:

OMIM49 270685
MedGen34 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

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UniProtKB/Swiss-Prot:67 Spastic paraplegia 17, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.

MalaCards based summary: Silver Spastic Paraplegia Syndrome, also known as spastic paraplegia with amyotrophy of hands and feet, is related to silver-russell syndrome and spastic paraplegia 17, and has symptoms including autosomal dominant inheritance, spastic paraplegia and hyperreflexia. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)).

Description from OMIM:49 270685

Related Diseases for Silver Spastic Paraplegia Syndrome

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Graphical network of the top 20 diseases related to Silver Spastic Paraplegia Syndrome:



Diseases related to silver spastic paraplegia syndrome

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 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 spastic paraplegia HP:0001258
3 hyperreflexia HP:0001347
4 pes cavus HP:0001761
5 lower limb spasticity HP:0002061
6 spastic gait HP:0002064
7 impaired vibration sensation in the lower limbs HP:0002166
8 first dorsal interossei muscle weakness HP:0003392
9 thenar muscle atrophy HP:0003393
10 first dorsal interossei muscle atrophy HP:0003426
11 thenar muscle weakness HP:0003427
12 babinski sign HP:0003487
13 slow progression HP:0003677
14 lower limb muscle weakness HP:0007340

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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:

67
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375
2BSCL2p.Ser90LeuVAR_022376

Clinvar genetic disease variations for Silver Spastic Paraplegia Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)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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GO Terms for genes affiliated with Silver Spastic Paraplegia Syndrome

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Sources for Silver Spastic Paraplegia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet