SPG20
MCID: SPS222
MIFTS: 54

Spastic Paraplegia 20, Autosomal Recessive (SPG20)

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 20, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 20, Autosomal Recessive:

Name: Spastic Paraplegia 20, Autosomal Recessive 58 54 26 76
Troyer Syndrome 58 12 77 25 54 26 55 60 76 30 13 56 6 15 41 74
Spg20 58 12 54 26 60 76
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting 58 54 26
Spastic Paraplegia, Autosomal Recessive, Troyer Type 58 54 26
Autosomal Recessive Spastic Paraplegia Type 20 12 54 60
Autosomal Recessive Hereditary Spastic Paraplegia 26 74
Cross-Mckusick Syndrome 54 26
Spastic Paraplegia 20 12 54
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome 60
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting 12
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting 76
Autosomal Recessive Spastic Paraplegia Troyer Type 12
Spastic Paraplegia Autosomal Recessive Troyer Type 76
Spastic Paraplegia Hereditary Autosomal Recessive 56
Autosomal Recessive Spastic Paraplegia 20 12
Hereditary Spastic Paraplegia 20 12
Spastic Paraplegia, Hereditary 74
Hereditary Spastic Paraplegia 26
Spastic Paraplegia Type 20 12
Trs 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
genetic heterogeneity, see spg5a for overview of recessive spgs


HPO:

33
spastic paraplegia 20, autosomal recessive:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 20, Autosomal Recessive

NINDS : 55 Troyer syndrome is one of more than 40 genetically-distinct neurological disorders known collectively as the hereditary spastic paraplegias. These disorders are characterized by their paramount feature of progressive muscle weakness and spasticity in the legs. Additional symptoms of Troyer syndrome (also called SPG20) include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, developmental delays, fluctuating emotions, and short stature. Onset is typically in early childhood, and symptoms gradually worsen over time. Troyer syndrome is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the spastic paraplegia gene (SPGP20) located in chromosome 13 that results in loss of the spartin proteins. The disease was first observed in Amish families in Ohio. Diagnosis is made by specialized genetic testing.

MalaCards based summary : Spastic Paraplegia 20, Autosomal Recessive, also known as troyer syndrome, is related to paraplegia and hereditary spastic paraplegia 72, and has symptoms including pain in lower limb, leg cramps and cerebellar signs. An important gene associated with Spastic Paraplegia 20, Autosomal Recessive is SPART (Spartin), and among its related pathways/superpathways are EGF/EGFR Signaling Pathway and SMAD Signaling Network. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are hypertelorism and dysphagia

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has material basis in a mutation of the SPG20 gene.

Genetics Home Reference : 26 Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a complex hereditary spastic paraplegia.

NIH Rare Diseases : 54 Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia. Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature. Symptoms worsen over time, with most people needing a wheelchair by their 50s or 60s. Life expectancy is normal. Troyer syndrome is caused by mutations in the SPG20 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 20, autosomal recessive: 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. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.

Wikipedia : 77 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

Description from OMIM: 275900
GeneReviews: NBK1382

Related Diseases for Spastic Paraplegia 20, Autosomal Recessive

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 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 20, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.9 SPART SPG7
2 hereditary spastic paraplegia 72 12.5
3 hereditary spastic paraplegia 51 12.5
4 spastic paraplegia 7, autosomal recessive 12.4
5 spastic paraplegia 17, autosomal dominant 12.4
6 spastic paraplegia 2, x-linked 12.3
7 spastic paraplegia 3, autosomal dominant 12.3
8 spastic paraplegia 4, autosomal dominant 12.3
9 spastic paraplegia 11, autosomal recessive 12.3
10 ap-4-associated hereditary spastic paraplegia 12.2
11 spastic paraplegia 11 12.2
12 spastic paraplegia 15, autosomal recessive 12.2
13 spastic paraplegia 26, autosomal recessive 12.2
14 spastic paraplegia 56, autosomal recessive 12.2
15 mast syndrome 12.2
16 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 12.2
17 masa syndrome 12.2
18 spastic paraplegia 4 12.1
19 spastic paraplegia 23 12.1
20 spastic paraplegia 5a, autosomal recessive 12.1
21 spastic paraplegia 6, autosomal dominant 12.1
22 spastic paraplegia 9a, autosomal dominant 12.1
23 spastic paraplegia 8, autosomal dominant 12.1
24 spastic paraplegia 10, autosomal dominant 12.1
25 spastic paraplegia 12, autosomal dominant 12.1
26 spastic paraplegia 14, autosomal recessive 12.1
27 spastic paraplegia 13, autosomal dominant 12.1
28 spastic paraplegia 19, autosomal dominant 12.1
29 spastic paraplegia 24, autosomal recessive 12.1
30 spastic paraplegia 25, autosomal recessive 12.1
31 spastic paraplegia 27, autosomal recessive 12.1
32 spastic paraplegia 28, autosomal recessive 12.1
33 spastic paraplegia 29, autosomal dominant 12.1
34 spastic paraplegia 31, autosomal dominant 12.1
35 spastic paraplegia 30, autosomal recessive 12.1
36 spastic paraplegia 18, autosomal recessive 12.1
37 spastic paraplegia 32, autosomal recessive 12.1
38 spastic paraplegia 37, autosomal dominant 12.1
39 spastic paraplegia 39, autosomal recessive 12.1
40 spastic paraplegia 35, autosomal recessive 12.1
41 spastic paraplegia 38, autosomal dominant 12.1
42 spastic paraplegia 42, autosomal dominant 12.1
43 spastic paraplegia 36, autosomal dominant 12.1
44 spastic paraplegia 45, autosomal recessive 12.1
45 spastic paraplegia 44, autosomal recessive 12.1
46 spastic paraplegia 41, autosomal dominant 12.1
47 spastic paraplegia 48, autosomal recessive 12.1
48 spastic paraplegia 46, autosomal recessive 12.1
49 spastic paraplegia 49, autosomal recessive 12.1
50 spastic paraplegia 54, autosomal recessive 12.1

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



Diseases related to Spastic Paraplegia 20, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 20, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 20, Autosomal Recessive:

60 33 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
2 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
3 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 cognitive impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100543
8 slurred speech 60 33 frequent (33%) Frequent (79-30%) HP:0001350
9 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
10 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
11 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
12 joint hypermobility 60 33 frequent (33%) Frequent (79-30%) HP:0001382
13 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
14 upper limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003484
15 abnormal hand morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005922
16 dysuria 60 33 frequent (33%) Frequent (79-30%) HP:0100518
17 impaired vibratory sensation 60 33 frequent (33%) Frequent (79-30%) HP:0002495
18 spastic paraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002313
19 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
20 overbite 60 33 frequent (33%) Frequent (79-30%) HP:0011094
21 abnormal cerebellum morphology 33 frequent (33%) HP:0001317
22 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
23 genu valgum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002857
24 clinodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0030084
25 emotional lability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000712
26 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
27 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
28 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
29 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
30 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
31 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
32 psychosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000709
33 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
34 hoarse voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001609
35 ankle clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0011448
36 spastic gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002064
37 prominent nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0000448
38 abnormality of the nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0005288
39 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
40 speech apraxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011098
41 panic attack 60 33 occasional (7.5%) Occasional (29-5%) HP:0025269
42 abnormal thumb morphology 33 occasional (7.5%) HP:0001172
43 hydronephrosis 60 33 very rare (1%) Very rare (<4-1%) HP:0000126
44 dysarthria 60 33 Frequent (79-30%) HP:0001260
45 hyperreflexia 60 33 Frequent (79-30%) HP:0001347
46 spasticity 60 Frequent (79-30%)
47 flexion contracture 33 HP:0001371
48 intellectual disability, mild 33 HP:0001256
49 skeletal muscle atrophy 60 Frequent (79-30%)
50 abnormality of the thumb 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism

Neurologic Central Nervous System:
dysarthria
hyperreflexia
dysmetria
cerebellar atrophy
lower limb spasticity
more
Skeletal Feet:
pes cavus
hammertoes
small feet

Skeletal Limbs:
contractures

Head And Neck Mouth:
tongue dyspraxia

Neurologic Behavioral Psychiatric Manifestations:
emotional lability (variable)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
hyperextensible hand joints

Growth Height:
short stature

Skeletal Spine:
kyphoscoliosis

Head And Neck Face:
overgrowth of the maxilla

Muscle Soft Tissue:
distal amyotrophy, especially of hands and feet

Clinical features from OMIM:

275900

UMLS symptoms related to Spastic Paraplegia 20, Autosomal Recessive:


pain in lower limb, leg cramps, cerebellar signs

MGI Mouse Phenotypes related to Spastic Paraplegia 20, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 ITCH SLC39A13 SPG7 WWP1

Drugs & Therapeutics for Spastic Paraplegia 20, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 New Genes in the Carcinogenesis of Colorectal Cancer Not yet recruiting NCT03261752

Search NIH Clinical Center for Spastic Paraplegia 20, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 20, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 20, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Troyer Syndrome 30 SPART

Anatomical Context for Spastic Paraplegia 20, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 20, Autosomal Recessive:

42
Spinal Cord, Brain, Testes, Cerebellum, Tongue, Skeletal Muscle

Publications for Spastic Paraplegia 20, Autosomal Recessive

Articles related to Spastic Paraplegia 20, Autosomal Recessive:

(show all 16)
# Title Authors Year
1
Novel SPG20 mutation in an extended family with Troyer syndrome. ( 28875386 )
2017
2
Three cases of Troyer syndrome in two families of Filipino descent. ( 27112432 )
2016
3
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. ( 27539578 )
2016
4
Recurrent null mutation in SPG20 leads to Troyer syndrome. ( 26003402 )
2015
5
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling. ( 22619377 )
2012
6
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? ( 18413476 )
2008
7
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. ( 17332501 )
2007
8
The Troyer syndrome (SPG20) protein spartin interacts with Eps15. ( 16036216 )
2005
9
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. ( 15372254 )
2004
10
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. ( 12134148 )
2002
11
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? ( 10463356 )
1999
12
Troyer Syndrome: report of the first &amp;quot;non-Amish&amp;quot; sibship and review. ( 7864052 )
1994
13
Troyer Syndrome ( 20301556 )
1993
14
Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or &amp;quot;new&amp;quot; syndrome. ( 1261070 )
1976
15
Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting. ( 5173362 )
1971
16
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. ( 6022528 )
1967

Variations for Spastic Paraplegia 20, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 20, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 SPART p.Met330Val VAR_079569 rs139921339

ClinVar genetic disease variations for Spastic Paraplegia 20, Autosomal Recessive:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPART NM_015087.4(SPART): c.720T> A (p.Ser240Arg) single nucleotide variant Uncertain significance rs780452995 GRCh37 Chromosome 13, 36909248: 36909248
2 SPART NM_015087.4(SPART): c.720T> A (p.Ser240Arg) single nucleotide variant Uncertain significance rs780452995 GRCh38 Chromosome 13, 36335111: 36335111
3 SPART NM_015087.4(SPART): c.1172A> G (p.Asp391Gly) single nucleotide variant Uncertain significance rs148833652 GRCh37 Chromosome 13, 36900828: 36900828
4 SPART NM_015087.4(SPART): c.1172A> G (p.Asp391Gly) single nucleotide variant Uncertain significance rs148833652 GRCh38 Chromosome 13, 36326691: 36326691
5 SPART NM_015087.4(SPART): c.361G> T (p.Asp121Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs146398746 GRCh37 Chromosome 13, 36909607: 36909607
6 SPART NM_015087.4(SPART): c.361G> T (p.Asp121Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs146398746 GRCh38 Chromosome 13, 36335470: 36335470
7 SPART NM_015087.4(SPART): c.75A> G (p.Leu25=) single nucleotide variant Likely benign rs148399669 GRCh38 Chromosome 13, 36335756: 36335756
8 SPART NM_015087.4(SPART): c.75A> G (p.Leu25=) single nucleotide variant Likely benign rs148399669 GRCh37 Chromosome 13, 36909893: 36909893
9 SPART NM_001142294.1(SPART): c.1110delA (p.Lys370Asnfs) deletion Pathogenic rs1060499524 GRCh38 Chromosome 13, 36329416: 36329416
10 SPART NM_001142294.1(SPART): c.1110delA (p.Lys370Asnfs) deletion Pathogenic rs1060499524 GRCh37 Chromosome 13, 36903553: 36903553
11 SPART NM_015087.4(SPART): c.364_365delAT (p.Met122Valfs) deletion Pathogenic rs775736341 GRCh38 Chromosome 13, 36335466: 36335467
12 SPART NM_015087.4(SPART): c.364_365delAT (p.Met122Valfs) deletion Pathogenic rs775736341 GRCh37 Chromosome 13, 36909603: 36909604
13 GRID2 NC_000004.12: g.92060162_92335756del275595 deletion Uncertain significance GRCh37 Chromosome 4, 92981313: 93256907
14 GRID2 NC_000004.12: g.92060162_92335756del275595 deletion Uncertain significance GRCh38 Chromosome 4, 92060162: 92335756
15 SPART NM_015087.4(SPART): c.1629A> G (p.Ala543=) single nucleotide variant Benign/Likely benign rs2274293 GRCh37 Chromosome 13, 36886469: 36886469
16 SPART NM_015087.4(SPART): c.1629A> G (p.Ala543=) single nucleotide variant Benign/Likely benign rs2274293 GRCh38 Chromosome 13, 36312332: 36312332
17 SPART NM_015087.4(SPART): c.1155T> G (p.Arg385=) single nucleotide variant Conflicting interpretations of pathogenicity rs140222511 GRCh38 Chromosome 13, 36329371: 36329371
18 SPART NM_015087.4(SPART): c.1155T> G (p.Arg385=) single nucleotide variant Conflicting interpretations of pathogenicity rs140222511 GRCh37 Chromosome 13, 36903508: 36903508
19 SPART NM_015087.4(SPART): c.1127A> G (p.Asn376Ser) single nucleotide variant Uncertain significance rs368305530 GRCh37 Chromosome 13, 36903536: 36903536
20 SPART NM_015087.4(SPART): c.1127A> G (p.Asn376Ser) single nucleotide variant Uncertain significance rs368305530 GRCh38 Chromosome 13, 36329399: 36329399
21 SPART NM_015087.4(SPART): c.1053T> C (p.Pro351=) single nucleotide variant Likely benign rs878854993 GRCh38 Chromosome 13, 36329473: 36329473
22 SPART NM_015087.4(SPART): c.1053T> C (p.Pro351=) single nucleotide variant Likely benign rs878854993 GRCh37 Chromosome 13, 36903610: 36903610
23 SPART NM_015087.4(SPART): c.*2127_*2130delGATA deletion Likely benign rs150662490 GRCh38 Chromosome 13, 36302235: 36302238
24 SPART NM_015087.4(SPART): c.*2127_*2130delGATA deletion Likely benign rs150662490 GRCh37 Chromosome 13, 36876372: 36876375
25 SPART NM_015087.4(SPART): c.*2123T> C single nucleotide variant Likely benign rs78129833 GRCh38 Chromosome 13, 36302242: 36302242
26 SPART NM_015087.4(SPART): c.*2123T> C single nucleotide variant Likely benign rs78129833 GRCh37 Chromosome 13, 36876379: 36876379
27 SPART NM_015087.4(SPART): c.*1892G> A single nucleotide variant Uncertain significance rs373152101 GRCh38 Chromosome 13, 36302473: 36302473
28 SPART NM_015087.4(SPART): c.*1892G> A single nucleotide variant Uncertain significance rs373152101 GRCh37 Chromosome 13, 36876610: 36876610
29 SPART NM_015087.4(SPART): c.*1848A> C single nucleotide variant Uncertain significance rs553638012 GRCh38 Chromosome 13, 36302517: 36302517
30 SPART NM_015087.4(SPART): c.*1848A> C single nucleotide variant Uncertain significance rs553638012 GRCh37 Chromosome 13, 36876654: 36876654
31 SPART NM_015087.4(SPART): c.*1550A> G single nucleotide variant Uncertain significance rs886050133 GRCh38 Chromosome 13, 36302815: 36302815
32 SPART NM_015087.4(SPART): c.*1550A> G single nucleotide variant Uncertain significance rs886050133 GRCh37 Chromosome 13, 36876952: 36876952
33 SPART NM_015087.4(SPART): c.*924C> A single nucleotide variant Likely benign rs7333861 GRCh38 Chromosome 13, 36303441: 36303441
34 SPART NM_015087.4(SPART): c.*924C> A single nucleotide variant Likely benign rs7333861 GRCh37 Chromosome 13, 36877578: 36877578
35 SPART NM_015087.4(SPART): c.*734T> C single nucleotide variant Uncertain significance rs886050135 GRCh37 Chromosome 13, 36877768: 36877768
36 SPART NM_015087.4(SPART): c.*734T> C single nucleotide variant Uncertain significance rs886050135 GRCh38 Chromosome 13, 36303631: 36303631
37 SPART NM_015087.4(SPART): c.*451G> A single nucleotide variant Uncertain significance rs1054149 GRCh37 Chromosome 13, 36878051: 36878051
38 SPART NM_015087.4(SPART): c.*451G> A single nucleotide variant Uncertain significance rs1054149 GRCh38 Chromosome 13, 36303914: 36303914
39 SPART NM_015087.4(SPART): c.686A> G (p.Gln229Arg) single nucleotide variant Uncertain significance rs570884857 GRCh37 Chromosome 13, 36909282: 36909282
40 SPART NM_015087.4(SPART): c.686A> G (p.Gln229Arg) single nucleotide variant Uncertain significance rs570884857 GRCh38 Chromosome 13, 36335145: 36335145
41 SPART NM_015087.4(SPART): c.360A> G (p.Lys120=) single nucleotide variant Conflicting interpretations of pathogenicity rs149730980 GRCh37 Chromosome 13, 36909608: 36909608
42 SPART NM_015087.4(SPART): c.360A> G (p.Lys120=) single nucleotide variant Conflicting interpretations of pathogenicity rs149730980 GRCh38 Chromosome 13, 36335471: 36335471
43 SPART NM_015087.4(SPART): c.-253G> A single nucleotide variant Likely benign rs2281864 GRCh38 Chromosome 13, 36346475: 36346475
44 SPART NM_015087.4(SPART): c.-253G> A single nucleotide variant Likely benign rs2281864 GRCh37 Chromosome 13, 36920612: 36920612
45 SPART NM_015087.4(SPART): c.*2454A> T single nucleotide variant Uncertain significance rs74868982 GRCh38 Chromosome 13, 36301911: 36301911
46 SPART NM_015087.4(SPART): c.*2454A> T single nucleotide variant Uncertain significance rs74868982 GRCh37 Chromosome 13, 36876048: 36876048
47 SPART NM_015087.4(SPART): c.*2343T> C single nucleotide variant Likely benign rs34434389 GRCh38 Chromosome 13, 36302022: 36302022
48 SPART NM_015087.4(SPART): c.*2343T> C single nucleotide variant Likely benign rs34434389 GRCh37 Chromosome 13, 36876159: 36876159
49 SPART NM_015087.4(SPART): c.1745A> T (p.Asn582Ile) single nucleotide variant Uncertain significance rs139085653 GRCh37 Chromosome 13, 36878758: 36878758
50 SPART NM_015087.4(SPART): c.1745A> T (p.Asn582Ile) single nucleotide variant Uncertain significance rs139085653 GRCh38 Chromosome 13, 36304621: 36304621

Expression for Spastic Paraplegia 20, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 20, Autosomal Recessive.

Pathways for Spastic Paraplegia 20, Autosomal Recessive

GO Terms for Spastic Paraplegia 20, Autosomal Recessive

Cellular components related to Spastic Paraplegia 20, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome membrane GO:0031901 8.62 EPS15 ITCH

Biological processes related to Spastic Paraplegia 20, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 9.32 ITCH WWP1
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.26 ITCH WWP1
3 positive regulation of protein catabolic process GO:0045732 9.16 ITCH WWP1
4 viral process GO:0016032 9.13 EPS15 ITCH WWP1
5 viral entry into host cell GO:0046718 8.8 EPS15 ITCH WWP1

Sources for Spastic Paraplegia 20, Autosomal Recessive

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
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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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