MCID: SLV005
MIFTS: 24

Silver Spastic Paraplegia Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Silver Spastic Paraplegia Syndrome

About this section

Aliases & Descriptions for Silver Spastic Paraplegia Syndrome:

Name: Silver Spastic Paraplegia Syndrome 51 69 12
Spastic Paraplegia 17, Autosomal Dominant 51 69
Silver Syndrome 53 69
Spg17 53 69
Spastic Paraplegia with Amyotrophy of Hands and Feet 69
Spastic Paraplegia-Amyotrophy of Hands and Feet 53
 
Neuronopathy, Distal Hereditary Motor, Type Vb 67
Autosomal Dominant Spastic Paraplegia Type 17 53
Distal Hereditary Motor Neuropathy Type 5b 53
Russell-Silver Syndrome 67
Spastic Paraplegia 17 67
Dhmn5b 53

Characteristics:

Orphanet epidemiological data:

53
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

63
silver spastic paraplegia syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 270685
Orphanet53 ORPHA100998
ICD10 via Orphanet30 G11.4
MedGen36 C2931276

Summaries for Silver Spastic Paraplegia Syndrome

About this section
UniProtKB/Swiss-Prot:69 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 spastic paraplegia, hyperreflexia and pes cavus. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include brain.

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:51 270685

Related Diseases for Silver Spastic Paraplegia Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1der kaloustian mcintosh silver syndrome11.8
2chromosome 11p15.5-related russell-silver syndrome11.7
3chromosome 7-related russell-silver syndrome11.7
4silver-russell syndrome11.7
5spastic paraplegia 1711.2
6partington syndrome11.0
7neuronopathy, distal hereditary motor, type vb10.8

Graphical network of diseases related to Silver Spastic Paraplegia Syndrome:



Diseases related to silver spastic paraplegia syndrome

Symptoms for Silver Spastic Paraplegia Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

Human phenotypes related to Silver Spastic Paraplegia Syndrome:

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 spastic paraplegia63 HP:0001258
2 hyperreflexia63 HP:0001347
3 pes cavus63 HP:0001761
4 lower limb spasticity63 HP:0002061
5 spastic gait63 HP:0002064
6 impaired vibration sensation in the lower limbs63 HP:0002166
7 first dorsal interossei muscle weakness63 HP:0003392
8 thenar muscle atrophy63 HP:0003393
9 first dorsal interossei muscle atrophy63 HP:0003426
10 thenar muscle weakness63 HP:0003427
11 babinski sign63 HP:0003487
12 lower limb muscle weakness63 HP:0007340

UMLS symptoms related to Silver Spastic Paraplegia Syndrome:


weakness of lower limb

Drugs & Therapeutics for Silver Spastic Paraplegia Syndrome

About this section

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

About this section

Genetic tests related to Silver Spastic Paraplegia Syndrome:

id Genetic test Affiliating Genes
1 Silver Syndrome24

Anatomical Context for Silver Spastic Paraplegia Syndrome

About this section

MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:

35
Brain

Animal Models for Silver Spastic Paraplegia Syndrome or affiliated genes

About this section

Publications for Silver Spastic Paraplegia Syndrome

About this section

Variations for Silver Spastic Paraplegia Syndrome

About this section

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

69
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
1CDKN1CNM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu)SNVPathogenicrs318240750GRCh38Chr 11, 2884119: 2884119
2BSCL2NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser)SNVPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971

Expression for genes affiliated with Silver Spastic Paraplegia Syndrome

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

Pathways for genes affiliated with Silver Spastic Paraplegia Syndrome

About this section

GO Terms for genes affiliated with Silver Spastic Paraplegia Syndrome

About this section

Sources for Silver Spastic Paraplegia Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet