MCID: SLV005
MIFTS: 25

Silver Spastic Paraplegia Syndrome malady

Category: Genetic diseases (common)

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
Russell-Silver Syndrome 65
 
Spastic Paraplegia 17 65
Silver Syndrome 67
Spg17 67

Characteristics:

HPO:

61
silver spastic paraplegia syndrome:
Onset and clinical course: slow progression
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 270685
MedGen34 C2931276
UMLS65 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 der kaloustian mcintosh silver syndrome and chromosome 11p15.5-related russell-silver syndrome, and has symptoms including lower limb muscle weakness, babinski sign and thenar muscle weakness. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)). Affiliated tissues include brain and uterus.

Genetics Home Reference:23 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:49 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 lower limb muscle weakness HP:0007340
2 babinski sign HP:0003487
3 thenar muscle weakness HP:0003427
4 first dorsal interossei muscle atrophy HP:0003426
5 thenar muscle atrophy HP:0003393
6 first dorsal interossei muscle weakness HP:0003392
7 impaired vibration sensation in the lower limbs HP:0002166
8 spastic gait HP:0002064
9 lower limb spasticity HP:0002061
10 pes cavus HP:0001761
11 hyperreflexia HP:0001347
12 spastic paraplegia HP:0001258

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:

Search ClinicalTrials, 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 Syndrome22

Anatomical Context for Silver Spastic Paraplegia Syndrome

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MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:

33
Brain, Uterus

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