Spastic Paraplegia 17 disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Spastic Paraplegia 17

Sources:
²¹Genetics Home Reference, ⁴⁶OMIM, ³²MalaCards
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Genetics Home Reference:²¹ 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: Spastic Paraplegia 17, also known as silver syndrome, is related to silver-russell syndrome and der kaloustian mcintosh silver syndrome. 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

Sources:
⁴²NIH Rare Diseases, ²⁰GeneTests, ²²GTR, ²¹Genetics Home Reference, ⁴⁶OMIM, ⁴⁸Orphanet, ⁶⁰UMLS, ²⁶ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases

ICD10: ²⁶

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Characteristics (Orphanet epidemiological data):

⁴⁸

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

Aliases & Descriptions:

spastic paraplegia 17 ⁴² ²⁰ ²² ²¹ ⁶⁰

silver syndrome ⁴² ²⁰ ²¹ ⁴⁸

silver spastic paraplegia syndrome ⁴² ²¹ ⁴⁶

spg17 ⁴² ²¹ ⁴⁸

spastic paraplegia with amyotrophy of hands and feet ⁴² ²¹

autosomal dominant spastic paraplegia type 17 ⁴² ⁴⁸

spastic paraplegia-amyotrophy of hands and feet ⁴⁸

distal hereditary motor neuropathy type 5b ⁴⁸

russell-silver syndrome ⁶⁰

dhmn5b ⁴⁸

External Ids:

OMIM⁴⁶ 270685

ICD10 via Orphanet²⁶ G11.4

Related Diseases for Spastic Paraplegia 17

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
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Diseases in the Spastic Paraplegia 1 family:

Spastic Paraplegia 3a	Spastic Paraplegia 4
Spastic Paraplegia 7	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 51
Spastic Paraplegia 9	Spastic Paraplegia 10
spastic paraplegia 17	Spastic Paraplegia 5a
Spastic Paraplegia 20	Spastic Paraplegia 23
Spastic Paraplegia 6	Spastic Paraplegia 18
Spastic Paraplegia 15	Spastic Paraplegia 39
Spastic Paraplegia 12	Spastic Paraplegia 13
Spastic Paraplegia 14	Spastic Paraplegia 16
Spastic Paraplegia 19	Spastic Paraplegia 2
Spastic Paraplegia 24	Spastic Paraplegia 25
Spastic Paraplegia 26	Spastic Paraplegia 29
Spastic Paraplegia 3	Spastic Paraplegia 31
Spastic Paraplegia 5b	Spastic Paraplegia 33
Spastic Paraplegia 42	Spastic Paraplegia 30
Spastic Paraplegia 48	Spastic Paraplegia 35
Spastic Paraplegia 44

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

(show all 13)

id	Related Disease	Score
1	silver-russell syndrome	10.5
2	der kaloustian mcintosh silver syndrome	10.3
3	distal hereditary motor neuropathy	10.2
4	partington syndrome	10.1
5	chromosome 11p15.5-related russell-silver syndrome	10.1
6	chromosome 7-related russell-silver syndrome	10.1
7	radio-ulnar synostosis - intellectual deficit - hypotonia	10.1
8	bscl2-related neurologic disorders/seipinopathy	10.0
9	lichen nitidus	9.9
10	dilated cardiomyopathy	9.9
11	learning disability	9.9
12	myoclonus-dystonia	9.9
13	silvery hair syndrome	9.9

Graphical network of diseases related to Spastic Paraplegia 17:

Clinical Features for Spastic Paraplegia 17

Sources:
⁴⁶OMIM
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Clinical features from OMIM:

270685

Clinical synopsis from OMIM:

270685

Drugs & Therapeutics for Spastic Paraplegia 17

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Approved drugs:

Search CenterWatch for Spastic Paraplegia 17

Drug clinical trials:

Search ClinicalTrials for Spastic Paraplegia 17

Search NIH Clinical Center for Spastic Paraplegia 17

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Genetic Tests for Spastic Paraplegia 17

Sources:
²⁰GeneTests, ²²GTR
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Genetic tests related to Spastic Paraplegia 17:

id	Genetic test	Affiliating Genes
1	Spastic Paraplegia 17²⁰ ²²
2	Silver Syndrome²⁰

Anatomical Context for Spastic Paraplegia 17

Sources:
³²MalaCards
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MalaCards organs/tissues related to Spastic Paraplegia 17:

³²

Brain

Animal Models for Spastic Paraplegia 17 or affiliated genes

Publications for Spastic Paraplegia 17

Genes related to Spastic Paraplegia 17

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot
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Genes related to Spastic Paraplegia 17:

id	Symbol	Products	Description	Score	Implication
1	BSCL2		Berardinelli-Seip congenital lipodystrophy 2 (seipin)	32.29	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² GeneCards inferred : Publications, Disorders, Gene name (show sections)

Products for genes related to Spastic Paraplegia 17 disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	1	1	1
2	LSBio	-	-	1

Genetic Variations for Spastic Paraplegia 17

Sources:
⁶²UniProtKB/Swiss-Prot
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Genetic disease variations for Spastic Paraplegia 17:

⁶²

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

Expression for genes affiliated with Spastic Paraplegia 17

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Spastic Paraplegia 17

GO Terms for genes affiliated with Spastic Paraplegia 17

Products for genes affiliated with Spastic Paraplegia 17

Antibodies
Proteins
Lysates

Antibodies

Sources for Spastic Paraplegia 17

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

SPG17 MCID: SPS027 MIFTS: 28	Spastic Paraplegia 17 (SPG17) malady Neuronal diseases category
1 symptom, 1 gene, 1 tissue, 13 related diseases, clinical trials, genetic tests.

Spastic Paraplegia 17 (SPG17) malady