SPG17
MCID: SPS027
MIFTS: 34

Spastic Paraplegia 17 (SPG17) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Eye diseases categories

Summaries for Spastic Paraplegia 17

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Genetics Home Reference:22 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.

MalaCards based summary: Spastic Paraplegia 17, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome and hereditary spastic paraplegia, and has symptoms including autosomal dominant inheritance, hyperreflexia and pes cavus. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Description from OMIM:46 270685

Aliases & Classifications for Spastic Paraplegia 17

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Sources:
61UMLS, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48Orphanet, 46OMIM, 27ICD10 via Orphanet
See all sources

Spastic Paraplegia 17, Aliases & Descriptions:

Name: Spastic Paraplegia 17 42 21 23 22 61
Silver Spastic Paraplegia Syndrome 42 22 46 61
Silver Syndrome 42 21 22 48
Spg17 42 22 48
Spastic Paraplegia with Amyotrophy of Hands and Feet 42 22
 
Autosomal Dominant Spastic Paraplegia Type 17 42 48
Dhmn5b 48 61
Spastic Paraplegia-Amyotrophy of Hands and Feet 48
Distal Hereditary Motor Neuropathy Type 5b 48
Russell-Silver Syndrome 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
silver syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000


External Ids:

OMIM46 270685
ICD10 via Orphanet27 G11.4

Related Diseases for Spastic Paraplegia 17

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Diseases in the Spastic Paraplegia 1 family:

Hereditary Spastic Paraplegia Spastic Paraplegia 3a
Spastic Paraplegia 4 Spastic Paraplegia 7
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
spastic paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 2
Spastic Paraplegia 23 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 39
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia 33
Spastic Paraplegia 42 Spastic Paraplegia 30
Spastic Paraplegia 48 Spastic Paraplegia 35
Spastic Paraplegia 44 Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 56, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 72, Autosomal Dominant
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 48, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 54, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 64 Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 45 Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 41, Autosomal Dominant Spastic Paraplegia 26, Autosomal Recessive
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Autosomal Recessive Spastic Paraplegia Type 62
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 17 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome10.6
2hereditary spastic paraplegia10.3
3neuropathy10.3
4der kaloustian mcintosh silver syndrome10.3
5distal hereditary motor neuropathy10.3
6paraplegia10.2
7spasticity10.2
8partington syndrome10.1
9chromosome 11p15.5-related russell-silver syndrome10.1
10chromosome 7-related russell-silver syndrome10.1
11radio-ulnar synostosis - intellectual disability - hypotonia10.1
12bscl2-related neurologic disorders/seipinopathy10.1
13dilated cardiomyopathy10.0
14lichen nitidus10.0
15dystonia10.0
16learning disability10.0
17myoclonus-dystonia10.0
18horseshoe kidney10.0
19mosaic trisomy 710.0
20ring chromosome 1510.0
21silvery hair syndrome10.0
22distal hereditary motor neuropathy type v10.0
23myoclonus10.0
24hemihypertrophy10.0

Graphical network of the top 20 diseases related to Spastic Paraplegia 17:



Diseases related to spastic paraplegia 17

Symptoms for Spastic Paraplegia 17

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Symptoms by clinical synopsis from OMIM:

270685

Clinical features from OMIM:

270685

HPO human phenotypes related to Spastic Paraplegia 17:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperreflexia HP:0001347
3 pes cavus HP:0001761
4 lower limb spasticity HP:0002061
5 spastic gait HP:0002064
6 impaired vibration sensation in the lower limbs HP:0002166
7 first dorsal interossei muscle weakness HP:0003392
8 thenar muscle atrophy HP:0003393
9 first dorsal interossei muscle atrophy HP:0003426
10 thenar muscle weakness HP:0003427
11 babinski sign HP:0003487
12 slow progression HP:0003677
13 lower limb muscle weakness HP:0007340

Drugs & Therapeutics for Spastic Paraplegia 17

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Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 17

Search NIH Clinical Center for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

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Genetic tests related to Spastic Paraplegia 17:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 1721 23
2 Silver Syndrome21

Anatomical Context for Spastic Paraplegia 17

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MalaCards organs/tissues related to Spastic Paraplegia 17:

32
Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

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Publications for Spastic Paraplegia 17

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Articles related to Spastic Paraplegia 17:

idTitleAuthorsYear
1
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (18585921)
2008

Variations for Spastic Paraplegia 17

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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17:

63
id Symbol AA change Variation ID SNP ID
1BSCL2p.Asn88SerVAR_022375
2BSCL2p.Ser90LeuVAR_022376

Clinvar genetic disease variations for Spastic Paraplegia 17:

7
id Gene Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.455A> G (p.Asn152Ser)single nucleotide variantPathogenicrs137852972GRCh37Chr 11, 62469971: 62469971

Expression for genes affiliated with Spastic Paraplegia 17

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Expression patterns in normal tissues for genes affiliated with Spastic Paraplegia 17

Search GEO for disease gene expression data for Spastic Paraplegia 17.

Pathways for genes affiliated with Spastic Paraplegia 17

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Compounds for genes affiliated with Spastic Paraplegia 17

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GO Terms for genes affiliated with Spastic Paraplegia 17

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Products for genes affiliated with Spastic Paraplegia 17

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spastic Paraplegia 17

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet