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

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Aliases & Classifications for Spastic Paraplegia 17

MalaCards integrated aliases for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 ⁴⁹ ²⁸ ⁶⁹

Spastic Paraplegia with Amyotrophy of Hands and Feet ⁴⁹

Autosomal Dominant Spastic Paraplegia Type 17 ⁴⁹

Silver Spastic Paraplegia Syndrome ⁴⁹

Russell-Silver Syndrome ⁶⁹

Silver Syndrome ⁴⁹

Spg17 ⁴⁹

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Gastrointestinal diseases Bone diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁶⁹ C2931276

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Summaries for Spastic Paraplegia 17

MalaCards based summary : Spastic Paraplegia 17, also known as spastic paraplegia with amyotrophy of hands and feet, is related to spastic paraplegia 17, autosomal dominant and paraplegia. An important gene associated with Spastic Paraplegia 17 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated).

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Related Diseases for Spastic Paraplegia 17

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant	Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant	Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant	Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive	Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive	Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive	Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive	Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive	Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51	Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 1
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 24
Spastic Paraplegia 25	Spastic Paraplegia 26
Spastic Paraplegia 29	Spastic Paraplegia 3
Spastic Paraplegia 31	Spastic Paraplegia 32
Spastic Paraplegia 39	Spastic Paraplegia 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
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 Suite gene sharing:

#	Related Disease	Score
1	spastic paraplegia 17, autosomal dominant	12.5
2	paraplegia	9.9
3	spasticity	9.9

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Symptoms & Phenotypes for Spastic Paraplegia 17

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Drugs & Therapeutics for Spastic Paraplegia 17

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 17

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Genetic Tests for Spastic Paraplegia 17

Genetic tests related to Spastic Paraplegia 17:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 17 ²⁸	BSCL2

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Anatomical Context for Spastic Paraplegia 17

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Publications for Spastic Paraplegia 17

Articles related to Spastic Paraplegia 17:

#	Title	Authors	Year
1	Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. ( 18585921 )	Ito D....Suzuki N.	2008

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Genes for Spastic Paraplegia 17

Genes related to Spastic Paraplegia 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	BSCL2	BSCL2, Seipin Lipid Droplet Biogenesis Associated	Protein Coding	549.1	Pathogenic ⁶ Genetic Tests ²⁸ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)

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Variations for Spastic Paraplegia 17

ClinVar genetic disease variations for Spastic Paraplegia 17:

⁶

#	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/Likely pathogenic	rs137852973	GRCh37	Chromosome 11, 62469965: 62469965

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Expression for Spastic Paraplegia 17

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

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Pathways for Spastic Paraplegia 17

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GO Terms for Spastic Paraplegia 17

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Sources for Spastic Paraplegia 17

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