MCID: SLV005
MIFTS: 24

Silver Spastic Paraplegia Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Silver Spastic Paraplegia Syndrome

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Aliases & Descriptions for Silver Spastic Paraplegia Syndrome:

Name: Silver Spastic Paraplegia Syndrome 50 68 12
Spastic Paraplegia 17, Autosomal Dominant 50 68
Silver Syndrome 52 68
Spg17 52 68
Spastic Paraplegia with Amyotrophy of Hands and Feet 68
 
Spastic Paraplegia-Amyotrophy of Hands and Feet 52
Autosomal Dominant Spastic Paraplegia Type 17 52
Distal Hereditary Motor Neuropathy Type 5b 52
Spastic Paraplegia 17 66
Dhmn5b 52

Characteristics:

Orphanet epidemiological data:

52
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

62
silver spastic paraplegia syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression


Classifications:



External Ids:

OMIM50 270685
Orphanet52 ORPHA100998
ICD10 via Orphanet29 G11.4
MedGen35 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

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UniProtKB/Swiss-Prot:68 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 17, autosomal dominant, is related to der kaloustian mcintosh silver syndrome and chromosome 11p15.5-related russell-silver syndrome, and has symptoms including weakness of lower limb, spastic paraplegia and hyperreflexia. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include brain.

Genetics Home Reference:24 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.

Description from OMIM:50 270685

Related Diseases for Silver Spastic Paraplegia Syndrome

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Graphical network of 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 12)
id Description Frequency HPO Source Accession
1 spastic paraplegia HP:0001258
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 lower limb muscle weakness HP:0007340

UMLS symptoms related to Silver Spastic Paraplegia Syndrome:


weakness of lower limb

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Silver Spastic Paraplegia Syndrome

Genetic Tests for Silver Spastic Paraplegia Syndrome

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Genetic tests related to Silver Spastic Paraplegia Syndrome:

id Genetic test Affiliating Genes
1 Silver Syndrome23

Anatomical Context for Silver Spastic Paraplegia Syndrome

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MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:

34
Brain

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:

68
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375rs137852972
2BSCL2p.Ser90LeuVAR_022376rs137852973

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet