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

Aliases & Classifications for Spastic Paraplegia 17

Sources:
⁴⁵NIH Rare Diseases, ²²GeneTests, ²³Genetics Home Reference, ⁵¹Orphanet, ²⁴GTR, ⁶⁵UMLS, ²⁸ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 ⁴⁵ ²² ²³ ²⁴ ⁶⁵

Silver Syndrome ⁴⁵ ²² ²³ ⁵¹

Spg17 ⁴⁵ ²² ²³ ⁵¹

Spastic Paraplegia with Amyotrophy of Hands and Feet ⁴⁵ ²³

Autosomal Dominant Spastic Paraplegia Type 17 ⁴⁵ ⁵¹

Silver Spastic Paraplegia Syndrome ⁴⁵ ²³

Spastic Paraplegia-Amyotrophy of Hands and Feet ⁵¹

Neuronopathy, Distal Hereditary Motor, Type Vb ⁶⁵

Distal Hereditary Motor Neuropathy Type 5b ⁵¹

Silver Spastic Paraplegia ²²

Russell-Silver Syndrome ⁶⁵

Spg 17 ²²

Dhmn5b ⁵¹

Hsp17 ²²

Characteristics:

Orphanet epidemiological data:

⁵¹

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ²⁸

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵¹

Rare neurological diseases

External Ids:

Orphanet⁵¹ 100998

ICD10 via Orphanet²⁸ G11.4

UMLS⁶⁵ C2931276, C3553656

Summaries for Spastic Paraplegia 17

Sources:
³³MalaCards
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MalaCards based summary: Spastic Paraplegia 17, also known as silver syndrome, is related to der kaloustian mcintosh silver syndrome and chromosome 11p15.5-related russell-silver syndrome, and has symptoms including weakness of lower limb An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)). Affiliated tissues include eye and bone.

Related Diseases for Spastic Paraplegia 17

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 63
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 23
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 4, Autosomal Dominant	Spastic Paraplegia 31, Autosomal Dominant
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 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 8, Autosomal Dominant	Spastic Paraplegia 46, Autosomal Recessive
Spastic Paraplegia 19, Autosomal Dominant	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 64, Autosomal Recessive	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 9b, Autosomal Recessive
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 15, Autosomal Recessive
Spastic Paraplegia 49, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 11, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 35, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant	Hereditary Spastic Paraplegia
Spastic Paraplegia 4	Spastic Paraplegia 7
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 2	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
Spastic Paraplegia 28	Spastic Paraplegia 30
Spastic Paraplegia 33	Spastic Paraplegia 35
Spastic Paraplegia 42	Spastic Paraplegia 43
Spastic Paraplegia 45	Spastic Paraplegia 46
Spastic Paraplegia 47	Spastic Paraplegia 48
Spastic Paraplegia 49	Spastic Paraplegia 50
Spastic Paraplegia 52	Spastic Paraplegia 53
Spastic Paraplegia 54	Spastic Paraplegia 55
Spastic Paraplegia 56	Spastic Paraplegia 57
Spastic Paraplegia 61	Spastic Paraplegia 64
Spastic Paraplegia 66	Spastic Paraplegia 72
Spastic Paraplegia 75	Spastic Paraplegia 44
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	Autosomal Spastic Paraplegia Type 72
Autosomal Recessive Spastic Paraplegia Type 58	Autosomal Dominant Spastic Paraplegia Type 9

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

id	Related Disease	Score
1	der kaloustian mcintosh silver syndrome	11.9
2	chromosome 11p15.5-related russell-silver syndrome	11.8
3	chromosome 7-related russell-silver syndrome	11.8
4	silver spastic paraplegia syndrome	11.6
5	silver-russell syndrome	11.6
6	neuronopathy, distal hereditary motor, type vb	11.0
7	paraplegia	9.9
8	spasticity	9.9

Graphical network of diseases related to Spastic Paraplegia 17:

Symptoms for Spastic Paraplegia 17

Sources:
⁶⁵UMLS
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UMLS symptoms related to Spastic Paraplegia 17:

weakness of lower limb

Drugs & Therapeutics for Spastic Paraplegia 17

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

Sources:
²²GeneTests
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Genetic tests related to Spastic Paraplegia 17:

id	Genetic test	Affiliating Genes
1	Spastic Paraplegia 17²²	BSCL2

Anatomical Context for Spastic Paraplegia 17

Sources:
³³MalaCards
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MalaCards organs/tissues related to Spastic Paraplegia 17:

³³

Eye, Bone

Animal Models for Spastic Paraplegia 17 or affiliated genes

Publications for Spastic Paraplegia 17

Sources:
⁵⁴PubMed
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Articles related to Spastic Paraplegia 17:

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

Genes related to Spastic Paraplegia 17

Sources:
²⁰GeneCards, ⁵¹Orphanet, ²²GeneTests
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Genes related to Spastic Paraplegia 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	BSCL2	Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)	500.24	Causative germline mutation ⁵¹ Genetic Tests ²² GeneCards inferred via : Disorders, Publications, Gene name, Variants (show sections)