MCID: SLV005
MIFTS: 33

Silver Spastic Paraplegia Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Silver Spastic Paraplegia Syndrome

MalaCards integrated aliases for Silver Spastic Paraplegia Syndrome:

Name: Silver Spastic Paraplegia Syndrome 54 12 25 71 29 13
Silver Syndrome 12 24 25 56 71
Spg17 12 25 56 71
Spastic Paraplegia with Amyotrophy of Hands and Feet 12 25 71
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 56
Autosomal Dominant Spastic Paraplegia Type 17 12 56
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
Spastic Paraplegia 17, Autosomal Dominant 71
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 69
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset of gait abnormalities at 8 to 40 years
onset of hand involvement at 14 to 60 years
wasting of the hands is the first and most prominent manifestation
allelic disorder to distal spinal muscular atrophy, type v (dsmav, ), but distinguished by the presence of spasticity


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 270685
Disease Ontology 12 DOID:0110770
ICD10 33 G11.4
Orphanet 56 ORPHA100998
UMLS via Orphanet 70 C2931276
ICD10 via Orphanet 34 G11.4
MedGen 40 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

UniProtKB/Swiss-Prot : 71 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 silver-russell syndrome and der kaloustian mcintosh silver syndrome, and has symptoms including hyperreflexia, spastic paraplegia and pes cavus. 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 28)
id Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 11.7
2 der kaloustian mcintosh silver 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 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 10.7
9 branchiootorenal spectrum disorders 10.5 AGPAT2 BSCL2
10 mandibuloacral dysplasia 10.4 AGPAT2 BSCL2
11 lissencephaly 10.3 AGPAT2 BSCL2
12 inflammatory bowel disease 10.3 AGPAT2 BSCL2
13 mature gastric teratoma 10.2 AGPAT2 BSCL2
14 nephronophthisis 19 10.0 GRB10 KCNQ1OT1
15 secondary non-traumatic avascular necrosis 10.0 CDKN1C IGF2
16 hemoglobin zurich 9.9 CDKN1C IGF2
17 hallermann-streiff syndrome 9.9 IGF2 KCNQ1OT1
18 cervical wilms' tumor 9.9 CDKN1C IGF2
19 aapoaii amyloidosis 9.9 IGF2 KCNQ1OT1
20 centrotemporal epilepsy 9.8 CDKN1C KCNQ1OT1 TGM1
21 limb-mammary syndrome 9.7 GRB10 IGF2
22 human venous malformation 9.6 ATL1 BSCL2
23 skin tag 9.6 CDKN1C IGF2
24 breast abscess 9.5 CDKN1C IGF2 KCNQ1OT1
25 nephrolithiasis/osteoporosis, hypophosphatemic, 1 9.5 CDKN1C IGF2 KCNQ1OT1
26 hyperbiliverdinemia 9.4 CDKN1C IGF2 KCNQ1OT1
27 aromatic l-amino acid decarboxylase deficiency 9.1 CDKN1C GRB10 IGF2 KCNQ1OT1
28 encephalopathy, progressive, with or without lipodystrophy 6.8 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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hyperreflexia
extensor plantar responses
spastic gait

Neurologic- Peripheral Nervous System:
lower limb spasticity
lower limb weakness
distal limb muscle weakness
distal limb muscle atrophy
thenar muscle weakness
more
Skeletal- Feet:
pes cavus


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

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 CDKN1C IGF2 AGPAT2

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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:

71
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 8.96 CDKN1C GRB10
2 embryonic placenta morphogenesis GO:0060669 8.32 CDKN1C

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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