SPG17
MCID: SPS027
MIFTS: 25

Spastic Paraplegia 17 (SPG17)

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

Aliases & Classifications for Spastic Paraplegia 17

MalaCards integrated aliases for Spastic Paraplegia 17:

Name: Spastic Paraplegia 17 20 29 6 70
Spastic Paraplegia with Amyotrophy of Hands and Feet 20
Autosomal Dominant Spastic Paraplegia Type 17 20
Silver Spastic Paraplegia Syndrome 20
Russell-Silver Syndrome 70
Silver Syndrome 20
Spg17 20

Classifications:



External Ids:

UMLS 70 C0175693 C2931276

Summaries for Spastic Paraplegia 17

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100998 Definition A 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.

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 neuronopathy, distal hereditary motor, type vc. An important gene associated with Spastic Paraplegia 17 is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include eye, spinal cord and kidney.

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 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 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
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 top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 17, autosomal dominant 32.3 HNRNPUL2-BSCL2 BSCL2
2 neuronopathy, distal hereditary motor, type vc 31.1 HNRNPUL2-BSCL2 BSCL2
3 berardinelli-seip congenital lipodystrophy 29.8 HNRNPUL2-BSCL2 BSCL2
4 charcot-marie-tooth disease, axonal, type 2e 29.5 HNRNPUL2-BSCL2 BSCL2
5 congenital generalized lipodystrophy 29.4 HNRNPUL2-BSCL2 BSCL2
6 charcot-marie-tooth disease 29.4 HNRNPUL2-BSCL2 BSCL2
7 tooth disease 29.1 HNRNPUL2-BSCL2 BSCL2
8 neuronopathy, distal hereditary motor, type va 29.1 HNRNPUL2-BSCL2 BSCL2
9 hereditary spastic paraplegia 29.0 HNRNPUL2-BSCL2 BSCL2
10 silver-russell syndrome 1 11.8
11 partington x-linked mental retardation syndrome 11.2
12 russell-silver syndrome, x-linked 11.2
13 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.1
14 radioulnar synostosis-developmental delay-hypotonia syndrome 11.1
15 diencephalic syndrome 11.0
16 maternal uniparental disomy 10.2
17 dwarfism 10.1
18 spasticity 10.1
19 uniparental disomy of chromosome 7 10.1
20 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
21 neuropathy 10.0
22 growth hormone deficiency 10.0
23 scoliosis 10.0
24 hypoglycemia 10.0
25 chromosomal triplication 10.0
26 motor neuron disease 10.0
27 paraplegia 10.0
28 silver-russell syndrome 2 9.9
29 bscl2-related neurologic disorders/seipinopathy 9.9
30 amyotrophic lateral sclerosis 1 9.9
31 syringomyelia, noncommunicating isolated 9.9
32 lateral sclerosis 9.9
33 syringomyelia 9.9
34 multifocal motor neuropathy 9.9
35 spastic paraparesis 9.9
36 beckwith-wiedemann syndrome 9.8
37 spastic paraplegia 4, autosomal dominant 9.8
38 hemihyperplasia, isolated 9.8
39 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.8
40 seminoma 9.8
41 dystonia 9.8
42 muscular atrophy 9.8
43 hypopituitarism 9.8
44 spastic paraplegia 4 9.8
45 mosaic trisomy 7 9.8
46 testicular seminoma 9.8
47 myoclonus 9.8
48 overgrowth syndrome 9.8
49 encephalopathy, progressive, with or without lipodystrophy 9.8 HNRNPUL2-BSCL2 BSCL2
50 lipodystrophy, familial partial, type 3 9.8 HNRNPUL2-BSCL2 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 29 BSCL2

Anatomical Context for Spastic Paraplegia 17

MalaCards organs/tissues related to Spastic Paraplegia 17:

40
Eye, Spinal Cord, Kidney, Temporal Lobe

Publications for Spastic Paraplegia 17

Articles related to Spastic Paraplegia 17:

(show all 30)
# Title Authors PMID Year
1
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. 6 61
21750110 2011
2
Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. 61 6
20806400 2010
3
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 6 61
18790819 2009
4
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. 6 61
16427281 2006
5
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 6 61
14981520 2004
6
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. 6
23553728 2013
7
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? 6
19396477 2009
8
Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 6
17387721 2007
9
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. 6
15732094 2005
10
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. 6
1674639 1991
11
Familial spastic paraplegia with amyotrophy of the hands. 6
5964029 1966
12
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. 61
32108980 2020
13
Promethin Is a Conserved Seipin Partner Protein. 61
30901948 2019
14
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. 61
27738760 2017
15
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 61
27638887 2016
16
[Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17]. 61
26204091 2015
17
BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. 61
25487175 2015
18
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 61
24731568 2014
19
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
20
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration]. 61
22277529 2011
21
Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations. 61
21712667 2011
22
Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 61
18585921 2008
23
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. 61
18612770 2008
24
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
25
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. 61
17486577 2007
26
[Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress]. 61
17633104 2007
27
BSCL2-Related Neurologic Disorders/Seipinopathy 61
20301484 2005
28
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. 61
15372247 2004
29
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. 61
15242882 2004
30
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. 61
11389484 2001

Variations for Spastic Paraplegia 17

ClinVar genetic disease variations for Spastic Paraplegia 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) SNV Pathogenic 4543 rs137852972 GRCh37: 11:62469971-62469971
GRCh38: 11:62702499-62702499
2 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic 4544 rs137852973 GRCh37: 11:62469965-62469965
GRCh38: 11:62702493-62702493
3 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) SNV Pathogenic/Likely pathogenic 4544 rs137852973 GRCh37: 11:62469965-62469965
GRCh38: 11:62702493-62702493
4 BSCL2 , HNRNPUL2-BSCL2 NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) SNV Uncertain significance 1030050 GRCh37: 11:62462041-62462041
GRCh38: 11:62694569-62694569
5 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val) SNV Uncertain significance 566241 rs141657385 GRCh37: 11:62457930-62457930
GRCh38: 11:62690458-62690458

Expression for Spastic Paraplegia 17

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

Pathways for Spastic Paraplegia 17

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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