SPG17
MCID: SLV005
MIFTS: 32

Silver Spastic Paraplegia Syndrome (SPG17) 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 52 11 25 70 12
Silver Syndrome 11 24 25 54 70
Spg17 11 25 54 70
Spastic Paraplegia with Amyotrophy of Hands and Feet 11 25 70
Spastic Paraplegia-Amyotrophy of Hands and Feet 11 54
Autosomal Dominant Spastic Paraplegia Type 17 11 54
Spastic Paraplegia 17, Autosomal Dominant 52 70
Hereditary Spastic Paraplegia 17 11 13
 
Spastic Paraplegia 17 25 68
Neuronopathy, Distal Hereditary Motor, Type Vb 68
Distal Hereditary Motor Neuropathy Type 5b 11
Autosomal Dominant Spastic Paraplegia 17 11
Silver Spastic Paraplegia 27
Russell-Silver Syndrome 68
Dhmn5b 11

Characteristics:

Orphanet epidemiological data:

54
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

64
silver spastic paraplegia syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM52 270685
Disease Ontology11 DOID:0110770
ICD1030 G11.4
Orphanet54 ORPHA100998
ICD10 via Orphanet31 G11.4
MedGen37 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

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UniProtKB/Swiss-Prot:70 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 silver syndrome, is related to der kaloustian mcintosh silver syndrome and silver-russell syndrome, and has symptoms including lower limb muscle weakness, lower limb muscle weakness and spastic paraplegia. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways is Endochondral Ossification. Affiliated tissues include brain, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Disease Ontology:11 A hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12.

Genetics Home Reference:25 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:52 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 & Phenotypes for Silver Spastic Paraplegia Syndrome

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Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

Human phenotypes related to Silver Spastic Paraplegia Syndrome:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 spastic paraplegia64 HP:0001258
2 hyperreflexia64 HP:0001347
3 pes cavus64 HP:0001761
4 lower limb spasticity64 HP:0002061
5 spastic gait64 HP:0002064
6 impaired vibration sensation in the lower limbs64 HP:0002166
7 first dorsal interossei muscle weakness64 HP:0003392
8 thenar muscle atrophy64 HP:0003393
9 first dorsal interossei muscle atrophy64 HP:0003426
10 thenar muscle weakness64 HP:0003427
11 babinski sign64 HP:0003487
12 lower limb muscle weakness64 HP:0007340

UMLS symptoms related to Silver Spastic Paraplegia Syndrome:


lower limb muscle weakness

GenomeRNAi Phenotypes related to Silver Spastic Paraplegia Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-848.9AGPAT2, CDKN1C, IGF2

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 Spastic Paraplegia Syndrome27
2 Silver Syndrome24

Anatomical Context for Silver Spastic Paraplegia Syndrome

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MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:

36
Brain

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:

70
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375rs137852972
2BSCL2p.Ser90LeuVAR_022376rs137852973

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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Pathways related to Silver Spastic Paraplegia Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CDKN1C, IGF2

GO Terms for genes affiliated with Silver Spastic Paraplegia Syndrome

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Biological processes related to Silver Spastic Paraplegia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of phosphorylationGO:00423269.7CDKN1C, GRB10

Molecular functions related to Silver Spastic Paraplegia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:00051589.2GRB10, IGF2

Sources for Silver Spastic Paraplegia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet