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

Aliases & Descriptions for Silver Spastic Paraplegia Syndrome:

Name: Silver Spastic Paraplegia Syndrome 54 12 25 66 13
Silver Syndrome 12 24 25 56 66
Spg17 12 25 56 66
Spastic Paraplegia with Amyotrophy of Hands and Feet 12 25 66
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 56
Autosomal Dominant Spastic Paraplegia Type 17 12 56
Spastic Paraplegia 17, Autosomal Dominant 54 66
Hereditary Spastic Paraplegia 17 12 14
Spastic Paraplegia 17 25 69
Neuronopathy, Distal Hereditary Motor, Type Vb 69
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Silver Spastic Paraplegia 29
Russell-Silver Syndrome 69
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant spastic paraplegia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

32
silver spastic paraplegia syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 270685
Disease Ontology 12 DOID:0110770
ICD10 33 G11.4
Orphanet 56 ORPHA100998
ICD10 via Orphanet 34 G11.4
MedGen 40 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

UniProtKB/Swiss-Prot : 66 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, hyperreflexia and babinski sign. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include brain, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Disease Ontology : 12 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: 270685

Related Diseases for Silver Spastic Paraplegia Syndrome

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

(show all 27)
id Related Disease Score Top Affiliating Genes
1 der kaloustian mcintosh silver syndrome 11.8
2 silver-russell syndrome 11.7
3 chromosome 11p15.5-related russell-silver syndrome 11.7
4 chromosome 7-related russell-silver syndrome 11.7
5 spastic paraplegia 17 11.0
6 partington syndrome 11.0
7 neuronopathy, distal hereditary motor, type vb 10.8
8 spastic paraplegia 39 10.2 BSCL2 CDKN1C
9 chchd10-related disorders 10.2 AGPAT2 BSCL2
10 hutchinson-gilford progeria 10.2 AGPAT2 BSCL2
11 tooth agenesis 10.1 AGPAT2 BSCL2
12 hyperphosphatemia 10.1 AGPAT2 BSCL2
13 nebulin-related early-onset distal myopathy 10.0 CDKN1C IGF2
14 hydrocephalus 10.0 ATL1 BSCL2
15 hemorrhagic fever 10.0 CDKN1C IGF2
16 deafness, autosomal recessive 66 10.0 GRB10 KCNQ1OT1
17 dental abscess 10.0 CDKN1C IGF2
18 hall-riggs mental retardation syndrome 10.0 IGF2 KCNQ1OT1
19 inclusion-cell disease 10.0 GRB10 IGF2
20 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 10.0 IGF2 KCNQ1OT1
21 intermixed schwannian stroma-rich ganglioneuroblastoma 9.9 CDKN1C IGF2
22 rapp-hodgkin syndrome 9.9 GRB10 IGF2
23 ovarian stromal hyperthecosis 9.9 ATL1 BSCL2
24 fanconi renotubular syndrome 2 9.8 CDKN1C IGF2 KCNQ1OT1
25 cerebral cavernous malformations-2 9.8 CDKN1C IGF2 KCNQ1OT1
26 argininosuccinic aciduria 9.7 CDKN1C GRB10 IGF2 KCNQ1OT1
27 ceroid lipofuscinosis, neuronal, 13, kufs type 8.8 AGPAT2 ATL1 BSCL2 CDKN1C GRB10 IGF2

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

Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

Human phenotypes related to Silver Spastic Paraplegia Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 lower limb muscle weakness 32 HP:0007340
2 hyperreflexia 32 HP:0001347
3 babinski sign 32 HP:0003487
4 pes cavus 32 HP:0001761
5 spastic paraplegia 32 HP:0001258
6 spastic gait 32 HP:0002064
7 thenar muscle atrophy 32 HP:0003393
8 lower limb spasticity 32 HP:0002061
9 impaired vibration sensation in the lower limbs 32 HP:0002166
10 first dorsal interossei muscle weakness 32 HP:0003392
11 first dorsal interossei muscle atrophy 32 HP:0003426
12 thenar muscle weakness 32 HP:0003427

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.44 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.44 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.44 AGPAT2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.44 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.44 AGPAT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.44 IGF2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.44 AGPAT2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.44 IGF2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.44 CDKN1C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.44 IGF2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 AGPAT2 CDKN1C IGF2

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Silver Spastic Paraplegia Syndrome

Genetic Tests for Silver Spastic Paraplegia Syndrome

Genetic tests related to Silver Spastic Paraplegia Syndrome:

id Genetic test Affiliating Genes
1 Silver Spastic Paraplegia Syndrome 29
2 Silver Syndrome 24

Anatomical Context for Silver Spastic Paraplegia Syndrome

MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:

39
Brain

Publications for Silver Spastic Paraplegia Syndrome

Variations for Silver Spastic Paraplegia Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973

ClinVar genetic disease variations for Silver Spastic Paraplegia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965

Expression for Silver Spastic Paraplegia Syndrome

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

Pathways for Silver Spastic Paraplegia Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.44 CDKN1C IGF2

GO Terms for Silver Spastic Paraplegia Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 negative regulation of phosphorylation GO:0042326 8.62 CDKN1C GRB10

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

id Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.62 GRB10 IGF2

Sources for Silver Spastic Paraplegia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....