SPG17
MCID: SPS219
MIFTS: 49

Spastic Paraplegia 17, Autosomal Dominant (SPG17)

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, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 17, Autosomal Dominant:

Name: Spastic Paraplegia 17, Autosomal Dominant 57 75
Silver Spastic Paraplegia Syndrome 57 12 25 75 29 13 6
Silver Syndrome 57 12 25 59 75
Spg17 57 12 25 59 75
Spastic Paraplegia with Amyotrophy of Hands and Feet 57 12 25 75
Spastic Paraplegia-Amyotrophy of Hands and Feet 12 59
Autosomal Dominant Spastic Paraplegia Type 17 12 59
Hereditary Spastic Paraplegia 17 12 15
Spastic Paraplegia 17 25 73
Paraplegia, Spastic, Autosomal Dominant, Type 17 40
Neuronopathy, Distal Hereditary Motor, Type Vb 73
Distal Hereditary Motor Neuropathy Type 5b 12
Autosomal Dominant Spastic Paraplegia 17 12
Russell-Silver Syndrome 73
Dhmn5b 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset of gait abnormalities at 8 to 40 years
onset of hand involvement at 14 to 60 years
wasting of the hands is the first and most prominent manifestation
allelic disorder to distal spinal muscular atrophy, type v (dsmav, ), but distinguished by the presence of spasticity


HPO:

32
spastic paraplegia 17, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 17, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 17, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.

MalaCards based summary : Spastic Paraplegia 17, Autosomal Dominant, also known as silver spastic paraplegia syndrome, is related to silver-russell syndrome and russell-silver syndrome, x-linked. An important gene associated with Spastic Paraplegia 17, Autosomal Dominant is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include brain, skin and bone, and related phenotypes are hyperreflexia and pes planus

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12.

Genetics Home Reference : 25 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.

Description from OMIM: 270685

Related Diseases for Spastic Paraplegia 17, Autosomal Dominant

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
Spastic Paraplegia Type 49 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 Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 32.9 CDKN1C GRB10 IGF2 KCNQ1OT1
2 russell-silver syndrome, x-linked 12.1
3 der kaloustian mcintosh silver syndrome 12.0
4 neuronopathy, distal hereditary motor, type vb 11.3
5 partington x-linked mental retardation syndrome 11.2
6 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.1
7 spastic paraplegia 17 11.1
8 diencephalic syndrome 11.0
9 berardinelli-seip congenital lipodystrophy 10.2 AGPAT2 BSCL2
10 lipodystrophy, congenital generalized, type 2 10.2 AGPAT2 BSCL2
11 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2 AGPAT2 BSCL2
12 complete generalized lipodystrophy 10.2 AGPAT2 BSCL2
13 lipodystrophy, congenital generalized, type 1 10.1 AGPAT2 BSCL2
14 lipodystrophy, familial partial, type 3 10.1 AGPAT2 BSCL2
15 lipodystrophy, congenital generalized, type 3 10.1 AGPAT2 BSCL2
16 congenital generalized lipodystrophy 10.1 AGPAT2 BSCL2
17 lipodystrophy, congenital generalized, type 4 10.1 AGPAT2 BSCL2
18 hereditary spastic paraplegia 10.1
19 paraplegia 10.1
20 familial partial lipodystrophy 10.1 AGPAT2 BSCL2
21 acquired generalized lipodystrophy 10.1 AGPAT2 BSCL2
22 silver-russell syndrome due to a point mutation 10.0 CDKN1C IGF2
23 diabetes mellitus, transient neonatal, 1 10.0 GRB10 KCNQ1OT1
24 omphalocele 9.9 CDKN1C KCNQ1OT1
25 hereditary wilms' tumor 9.9 CDKN1C IGF2
26 beckwith-wiedemann syndrome due to imprinting defect of 11p15 9.9 IGF2 KCNQ1OT1
27 umbilical hernia 9.9 CDKN1C IGF2
28 neuropathy 9.9
29 charcot-marie-tooth hereditary neuropathy 9.9
30 hemihyperplasia, isolated 9.8 CDKN1C IGF2 KCNQ1OT1
31 beckwith-wiedemann syndrome 9.8 CDKN1C IGF2 KCNQ1OT1
32 hypopituitarism 9.8
33 hypoglycemia 9.8
34 growth hormone deficiency 9.8
35 mosaic trisomy 7 9.8
36 wilms tumor 1 9.8 CDKN1C IGF2 KCNQ1OT1
37 hepatoblastoma 9.7 CDKN1C IGF2
38 hepatocellular carcinoma 9.6
39 cleft palate, isolated 9.6
40 legg-calve-perthes disease 9.6
41 schizophrenia 9.6
42 testicular torsion 9.6
43 torticollis 9.6
44 cystic fibrosis 9.6
45 pseudovaginal perineoscrotal hypospadias 9.6
46 neuronopathy, distal hereditary motor, type va 9.6
47 wilms tumor 6 9.6
48 dilated cardiomyopathy 9.6
49 heart disease 9.6
50 turner syndrome 9.6

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



Diseases related to Spastic Paraplegia 17, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 17, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic gait
extensor plantar responses

Neurologic Peripheral Nervous System:
lower limb spasticity
thenar muscle atrophy
first dorsal interossei muscle weakness
first dorsal interossei muscle atrophy
thenar muscle weakness
more
Skeletal Feet:
pes cavus


Clinical features from OMIM:

270685

Human phenotypes related to Spastic Paraplegia 17, Autosomal Dominant:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
2 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
3 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
4 hand muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009130
5 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
6 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
7 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
8 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
9 hand muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0030237
10 distal sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002936
11 ankle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031374
12 hip pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030838
13 knee pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0030839
14 abnormal motor nerve conduction velocity 59 32 occasional (7.5%) Occasional (29-5%) HP:0040131
15 pes cavus 32 HP:0001761
16 spastic paraplegia 32 HP:0001258
17 lower limb muscle weakness 32 HP:0007340
18 lower limb spasticity 32 HP:0002061
19 impaired vibration sensation in the lower limbs 32 HP:0002166
20 thenar muscle atrophy 32 HP:0003393
21 first dorsal interossei muscle weakness 32 HP:0003392
22 first dorsal interossei muscle atrophy 32 HP:0003426
23 thenar muscle weakness 32 HP:0003427
24 abnormality of the foot musculature 59 Frequent (79-30%)
25 distal amyotrophy 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.4 IGF2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.4 IGF2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 AGPAT2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.4 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.4 AGPAT2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 AGPAT2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.4 IGF2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.4 CDKN1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 IGF2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 AGPAT2 CDKN1C IGF2

Drugs & Therapeutics for Spastic Paraplegia 17, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 17, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 17, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 17, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Silver Spastic Paraplegia Syndrome 29

Anatomical Context for Spastic Paraplegia 17, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 17, Autosomal Dominant:

41
Brain, Skin, Bone, Eye, Kidney, Heart, Spinal Cord

Publications for Spastic Paraplegia 17, Autosomal Dominant

Articles related to Spastic Paraplegia 17, Autosomal Dominant:

(show top 50) (show all 129)
# Title Authors Year
1
Russell-Silver syndrome with cleft palate: a case report. ( 30515601 )
2018
2
Russell-Silver syndrome presenting with ambiguous genitalia. ( 27998648 )
2017
3
Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion. ( 27034882 )
2016
4
Russel-Silver syndrome: A historical note and comment on an older adult. ( 26525433 )
2016
5
Systemic and maxillofacial characteristics of 11 Japanese children with Russell-Silver syndrome. ( 26915482 )
2016
6
Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins. ( 26934824 )
2016
7
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. ( 27374371 )
2016
8
Russell-Silver syndrome associated with low conus medullaris. ( 28217167 )
2016
9
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome. ( 25395389 )
2015
10
BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature. ( 25487175 )
2015
11
Cerebral aneurysms and accelerated atherosclerosis in Russell-Silver syndrome: a new subtype? Case report. ( 25555030 )
2015
12
Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory. ( 25639378 )
2015
13
BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome. ( 25219579 )
2015
14
Occlusal Characteristics of Individuals with Growth Hormone Deficiency, Idiopathic Short Stature, and Russell-Silver Syndrome. ( 26731248 )
2015
15
Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. ( 26358311 )
2015
16
Prosthetic management of a growing patient with Russell-Silver syndrome: a clinical report. ( 26576258 )
2015
17
Spinal Deformity in Russell-Silver Syndrome. ( 27927458 )
2015
18
Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome. ( 24075556 )
2014
19
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation. ( 25044976 )
2014
20
Case report of schizophrenia in adolescent with Russell-Silver syndrome. ( 24521140 )
2014
21
Generalized lichen nitidus in Russell-Silver syndrome. ( 22329413 )
2013
22
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome. ( 24065356 )
2013
23
Myoclonus-dystonia syndrome associated with Russell Silver syndrome. ( 23703955 )
2013
24
Limb lengthening in children with Russell-Silver syndrome: a comparison to other etiologies. ( 24432074 )
2013
25
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. ( 21204802 )
2012
26
Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. ( 21410572 )
2012
27
Torticollis as the main presentation in a child with russell-silver syndrome: a case report. ( 23198234 )
2012
28
Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy. ( 23087879 )
2012
29
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. ( 20598714 )
2010
30
Methylation profiling in individuals with Russell-Silver syndrome. ( 20082469 )
2010
31
Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. ( 20385510 )
2010
32
Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome. ( 20424422 )
2010
33
Russell-Silver syndrome. ( 20803658 )
2010
34
Novel SPG3A and SPG4 mutations in two patients with Silver syndrome. ( 19730024 )
2009
35
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. ( 19876907 )
2009
36
Hand anomalies in Russell Silver syndrome. ( 18171637 )
2009
37
Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay. ( 19814617 )
2009
38
Russell-Silver syndrome: twin presentation. ( 21686899 )
2009
39
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. ( 18401025 )
2008
40
Silver syndrome: The complexity of complicated hereditary spastic paraplegia. ( 18490616 )
2008
41
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. ( 18612770 )
2008
42
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. ( 17663003 )
2007
43
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. ( 17486577 )
2007
44
[Silver syndrome--case report]. ( 18224579 )
2007
45
Russell-Silver syndrome and nonverbal learning disability: a case study. ( 17523887 )
2007
46
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. ( 17504900 )
2007
47
Russell-Silver syndrome. ( 17511949 )
2007
48
Russell-Silver syndrome: anaesthetic implications and management. ( 16921710 )
2006
49
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. ( 16427281 )
2006
50
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. ( 16007591 )
2005

Variations for Spastic Paraplegia 17, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 BSCL2 p.Asn88Ser VAR_022375 rs137852972
2 BSCL2 p.Ser90Leu VAR_022376 rs137852973

ClinVar genetic disease variations for Spastic Paraplegia 17, Autosomal Dominant:

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 ACAD9 NM_014049.4(ACAD9): c.976G> A (p.Ala326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115532916 GRCh37 Chromosome 3, 128622922: 128622922
6 ACAD9 NM_014049.4(ACAD9): c.976G> A (p.Ala326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs115532916 GRCh38 Chromosome 3, 128904079: 128904079

Expression for Spastic Paraplegia 17, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 17, Autosomal Dominant.

Pathways for Spastic Paraplegia 17, Autosomal Dominant

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

# Super pathways Score Top Affiliating Genes
1 10.44 CDKN1C IGF2

GO Terms for Spastic Paraplegia 17, Autosomal Dominant

Biological processes related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.16 BSCL2 GRB10
2 negative regulation of phosphorylation GO:0042326 8.96 CDKN1C GRB10
3 embryonic placenta morphogenesis GO:0060669 8.62 CDKN1C IGF2

Molecular functions related to Spastic Paraplegia 17, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 8.62 GRB10 IGF2

Sources for Spastic Paraplegia 17, Autosomal Dominant

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