MCID: SPS027
MIFTS: 27

Spastic Paraplegia 17

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 17

MalaCards integrated aliases for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 54 30 6 74
Spastic Paraplegia with Amyotrophy of Hands and Feet 54
Autosomal Dominant Spastic Paraplegia Type 17 54
Silver Spastic Paraplegia Syndrome 54
Russell-Silver Syndrome 74
Silver Syndrome 54
Spg17 54

Classifications:



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Summaries for Spastic Paraplegia 17

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.Visit the Orphanet disease page for more resources.

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 silver-russell syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways is Glucose / Energy Metabolism. Affiliated tissues include skin, kidney and bone.

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, Autosomal Recessive 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
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 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
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 Dominant Spastic Paraplegia Type 9b

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 17, autosomal dominant 12.7
2 silver-russell syndrome 12.3
3 russell-silver syndrome, x-linked 12.1
4 der kaloustian mcintosh silver syndrome 12.1
5 partington x-linked mental retardation syndrome 11.3
6 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.2
7 diencephalic syndrome 11.0
8 hereditary spastic paraplegia 10.1
9 paraplegia 10.0
10 neuropathy 9.9
11 charcot-marie-tooth hereditary neuropathy 9.9
12 hypoglycemia 9.9
13 distal hereditary motor neuropathy, type v 9.9
14 spastic paraplegia 4, autosomal dominant 9.8
15 hypopituitarism 9.8
16 spastic paraplegia 4 9.8
17 chromosomal triplication 9.8
18 growth hormone deficiency 9.8
19 mosaic trisomy 7 9.8
20 hepatocellular carcinoma 9.6
21 cleft palate, isolated 9.6
22 legg-calve-perthes disease 9.6
23 schizophrenia 9.6
24 spastic paraplegia 3, autosomal dominant 9.6
25 testicular torsion 9.6
26 torticollis 9.6
27 cystic fibrosis 9.6
28 hemihyperplasia, isolated 9.6
29 neuronopathy, distal hereditary motor, type va 9.6
30 wilms tumor 5 9.6
31 wilms tumor 6 9.6
32 dilated cardiomyopathy 9.6
33 heart disease 9.6
34 turner syndrome 9.6
35 seminoma 9.6
36 dystonia 9.6
37 lichen nitidus 9.6
38 learning disability 9.6
39 spastic paraplegia 3a 9.6
40 horseshoe kidney 9.6
41 ring chromosome 15 9.6
42 slipped capital femoral epiphysis 9.6
43 myoclonus 9.6
44 cerebral aneurysms 9.6
45 epiphysiolysis of the hip 9.6
46 encephalopathy, progressive, with or without lipodystrophy 9.6 BSCL2 HNRNPUL2-BSCL2
47 berardinelli-seip congenital lipodystrophy 9.4 BSCL2 HNRNPUL2-BSCL2

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



Diseases related to Spastic Paraplegia 17

Symptoms & Phenotypes for Spastic Paraplegia 17

Drugs & Therapeutics for Spastic Paraplegia 17

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 17

Genetic Tests for Spastic Paraplegia 17

Genetic tests related to Spastic Paraplegia 17:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 17 30 BSCL2

Anatomical Context for Spastic Paraplegia 17

MalaCards organs/tissues related to Spastic Paraplegia 17:

42
Skin, Kidney, Bone, Heart, Eye

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 )
2008

Variations for Spastic Paraplegia 17

ClinVar genetic disease variations for Spastic Paraplegia 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh37 Chromosome 11, 62469971: 62469971
2 BSCL2; HNRNPUL2-BSCL2 NM_032667.6(BSCL2): c.263A> G (p.Asn88Ser) single nucleotide variant Pathogenic rs137852972 GRCh38 Chromosome 11, 62702499: 62702499
3 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh37 Chromosome 11, 62469965: 62469965
4 BSCL2 NM_032667.6(BSCL2): c.269C> T (p.Ser90Leu) single nucleotide variant Pathogenic rs137852973 GRCh38 Chromosome 11, 62702493: 62702493
5 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 62690458: 62690458
6 BSCL2 NM_032667.6(BSCL2): c.1106C> T (p.Ala369Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 62457930: 62457930

Expression for Spastic Paraplegia 17

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

Pathways for Spastic Paraplegia 17

Pathways related to Spastic Paraplegia 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 ACAD9 BSCL2

GO Terms for Spastic Paraplegia 17

Sources for Spastic Paraplegia 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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