MCID: SPS222
MIFTS: 51

Spastic Paraplegia 20, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 20, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 20, Autosomal Recessive:

Name: Spastic Paraplegia 20, Autosomal Recessive 57 53 25 75
Troyer Syndrome 57 12 76 24 53 25 54 59 75 29 13 55 6 15 40 73
Spg20 57 12 53 25 59 75
Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting 57 53 25
Spastic Paraplegia, Autosomal Recessive, Troyer Type 57 53 25
Autosomal Recessive Spastic Paraplegia Type 20 12 53 59
Autosomal Recessive Hereditary Spastic Paraplegia 25 73
Cross-Mckusick Syndrome 53 25
Spastic Paraplegia 20 12 53
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome 59
Childhood-Onset Spastic Paraparesis with Distal Muscle Wasting 12
Spastic Paraparesis Childhood-Onset with Distal Muscle Wasting 75
Autosomal Recessive Spastic Paraplegia Troyer Type 12
Spastic Paraplegia Autosomal Recessive Troyer Type 75
Spastic Paraplegia Hereditary Autosomal Recessive 55
Autosomal Recessive Spastic Paraplegia 20 12
Hereditary Spastic Paraplegia 20 12
Spastic Paraplegia, Hereditary 73
Hereditary Spastic Paraplegia 25
Spastic Paraplegia Type 20 12
Trs 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 20
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 20, autosomal recessive:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 20, Autosomal Recessive

NINDS : 54 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, and has symptoms including leg cramps, pain in lower limb 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 low-set ears

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive... more...

Description from OMIM: 275900
GeneReviews:

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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
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

Diseases related to Spastic Paraplegia 20, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.5 SPART SPG7
2 hereditary spastic paraplegia 29.1 SPART SPG7
3 testicular regression syndrome 11.6
4 spastic paraplegia 7, autosomal recessive 11.3
5 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 11.2
6 spastic paraplegia 15, autosomal recessive 11.2
7 spastic paraplegia 5a, autosomal recessive 11.2
8 spastic paraplegia 25, autosomal recessive 11.2
9 spastic paraplegia 26, autosomal recessive 11.2
10 spastic paraplegia 18, autosomal recessive 11.2
11 spastic paraplegia 32, autosomal recessive 11.2
12 spastic paraplegia 39, autosomal recessive 11.2
13 spastic paraplegia 44, autosomal recessive 11.2
14 spastic paraplegia 56, autosomal recessive 11.2
15 spastic paraplegia 49, autosomal recessive 11.2
16 spastic paraplegia 54, autosomal recessive 11.2
17 spastic paraplegia 55, autosomal recessive 11.2
18 spastic paraplegia 43, autosomal recessive 11.2
19 spastic paraplegia 57, autosomal recessive 11.2
20 spastic paraplegia 76, autosomal recessive 11.2
21 spastic ataxia, charlevoix-saguenay type 11.0
22 swine influenza 10.9
23 somatization disorder 10.9
24 thyroiditis 10.3
25 cerebellar degeneration 10.1
26 paraneoplastic cerebellar degeneration 10.1
27 personality disorder 10.0
28 spasticity 10.0
29 premature ejaculation 10.0
30 neuronitis 10.0
31 schizophrenia 9.9
32 colorectal cancer 9.8
33 mitochondrial complex iv deficiency 9.8
34 b-cell lymphomas 9.8
35 autism 9.8
36 paine syndrome 9.8
37 aceruloplasminemia 9.8
38 major depressive disorder 9.8
39 ataxia-oculomotor apraxia 3 9.8
40 autism spectrum disorder 9.8
41 borderline personality disorder 9.8
42 retinitis 9.8
43 depression 9.8
44 machado-joseph disease 9.7
45 breast cancer 9.7
46 hepatocellular carcinoma 9.7
47 otitis media 9.7
48 thyroid hormone resistance, generalized, autosomal dominant 9.7
49 lymphoma, hodgkin, classic 9.7
50 dubin-johnson syndrome 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 20, Autosomal Recessive:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
4 clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030084
5 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
6 dysarthria 59 32 Frequent (79-30%) HP:0001260
7 hyperreflexia 59 32 Frequent (79-30%) HP:0001347
8 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
9 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
10 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
11 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
12 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
13 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
14 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
15 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
16 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
17 abnormality of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
18 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
19 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
20 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
21 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
22 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
23 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
24 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
25 joint hypermobility 59 32 frequent (33%) Frequent (79-30%) HP:0001382
26 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
27 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
28 hydronephrosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000126
29 abnormality of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0001317
30 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
31 ankle clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0011448
32 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
33 prominent nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000448
34 abnormal hand morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005922
35 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
36 abnormality of the nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0005288
37 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
38 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
39 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
40 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
41 speech apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011098
42 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
43 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
44 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269
45 overbite 59 32 frequent (33%) Frequent (79-30%) HP:0011094
46 spasticity 59 Frequent (79-30%)
47 flexion contracture 32 HP:0001371
48 intellectual disability, mild 32 HP:0001256
49 skeletal muscle atrophy 59 Frequent (79-30%)
50 short foot 32 HP:0001773

UMLS symptoms related to Spastic Paraplegia 20, Autosomal Recessive:


leg cramps, pain in lower limb, cerebellar signs

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 29 SPART

Anatomical Context for Spastic Paraplegia 20, Autosomal Recessive

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

41
Spinal Cord, Brain, Testes, Tongue, Skeletal Muscle, Cerebellum

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:

75
# Symbol AA change Variation ID SNP ID
1 SPART p.Met330Val VAR_079569

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

6
(show top 50) (show all 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPART NM_001142294.1(SPART): c.1110delA (p.Lys370Asnfs) deletion Pathogenic rs1060499524 GRCh38 Chromosome 13, 36329416: 36329416
2 SPART NM_001142294.1(SPART): c.1110delA (p.Lys370Asnfs) deletion Pathogenic rs1060499524 GRCh37 Chromosome 13, 36903553: 36903553
3 SPART NM_015087.4(SPART): c.364_365delAT (p.Met122Valfs) deletion Pathogenic rs775736341 GRCh38 Chromosome 13, 36335466: 36335467
4 SPART NM_015087.4(SPART): c.364_365delAT (p.Met122Valfs) deletion Pathogenic rs775736341 GRCh37 Chromosome 13, 36909603: 36909604
5 SPART NM_015087.4(SPART): c.720T> A (p.Ser240Arg) single nucleotide variant Uncertain significance rs780452995 GRCh37 Chromosome 13, 36909248: 36909248
6 SPART NM_015087.4(SPART): c.720T> A (p.Ser240Arg) single nucleotide variant Uncertain significance rs780452995 GRCh38 Chromosome 13, 36335111: 36335111
7 SPART NM_015087.4(SPART): c.1172A> G (p.Asp391Gly) single nucleotide variant Uncertain significance rs148833652 GRCh37 Chromosome 13, 36900828: 36900828
8 SPART NM_015087.4(SPART): c.1172A> G (p.Asp391Gly) single nucleotide variant Uncertain significance rs148833652 GRCh38 Chromosome 13, 36326691: 36326691
9 SPART NM_015087.4(SPART): c.361G> T (p.Asp121Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs146398746 GRCh37 Chromosome 13, 36909607: 36909607
10 SPART NM_015087.4(SPART): c.361G> T (p.Asp121Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs146398746 GRCh38 Chromosome 13, 36335470: 36335470
11 SPART NM_015087.4(SPART): c.75A> G (p.Leu25=) single nucleotide variant Likely benign rs148399669 GRCh38 Chromosome 13, 36335756: 36335756
12 SPART NM_015087.4(SPART): c.75A> G (p.Leu25=) single nucleotide variant Likely benign rs148399669 GRCh37 Chromosome 13, 36909893: 36909893
13 SPART NM_015087.4(SPART): c.1155T> G (p.Arg385=) single nucleotide variant Conflicting interpretations of pathogenicity rs140222511 GRCh38 Chromosome 13, 36329371: 36329371
14 SPART NM_015087.4(SPART): c.1155T> G (p.Arg385=) single nucleotide variant Conflicting interpretations of pathogenicity rs140222511 GRCh37 Chromosome 13, 36903508: 36903508
15 SPART NM_015087.4(SPART): c.1127A> G (p.Asn376Ser) single nucleotide variant Uncertain significance rs368305530 GRCh37 Chromosome 13, 36903536: 36903536
16 SPART NM_015087.4(SPART): c.1127A> G (p.Asn376Ser) single nucleotide variant Uncertain significance rs368305530 GRCh38 Chromosome 13, 36329399: 36329399
17 SPART NM_015087.4(SPART): c.1053T> C (p.Pro351=) single nucleotide variant Likely benign rs878854993 GRCh38 Chromosome 13, 36329473: 36329473
18 SPART NM_015087.4(SPART): c.1053T> C (p.Pro351=) single nucleotide variant Likely benign rs878854993 GRCh37 Chromosome 13, 36903610: 36903610
19 SPART NM_015087.4(SPART): c.*2127_*2130delGATA deletion Likely benign rs150662490 GRCh38 Chromosome 13, 36302235: 36302238
20 SPART NM_015087.4(SPART): c.*2127_*2130delGATA deletion Likely benign rs150662490 GRCh37 Chromosome 13, 36876372: 36876375
21 SPART NM_015087.4(SPART): c.*2123T> C single nucleotide variant Likely benign rs78129833 GRCh38 Chromosome 13, 36302242: 36302242
22 SPART NM_015087.4(SPART): c.*2123T> C single nucleotide variant Likely benign rs78129833 GRCh37 Chromosome 13, 36876379: 36876379
23 SPART NM_015087.4(SPART): c.*1892G> A single nucleotide variant Uncertain significance rs373152101 GRCh38 Chromosome 13, 36302473: 36302473
24 SPART NM_015087.4(SPART): c.*1892G> A single nucleotide variant Uncertain significance rs373152101 GRCh37 Chromosome 13, 36876610: 36876610
25 SPART NM_015087.4(SPART): c.*1848A> C single nucleotide variant Uncertain significance rs553638012 GRCh38 Chromosome 13, 36302517: 36302517
26 SPART NM_015087.4(SPART): c.*1848A> C single nucleotide variant Uncertain significance rs553638012 GRCh37 Chromosome 13, 36876654: 36876654
27 SPART NM_015087.4(SPART): c.*1550A> G single nucleotide variant Uncertain significance rs886050133 GRCh38 Chromosome 13, 36302815: 36302815
28 SPART NM_015087.4(SPART): c.*1550A> G single nucleotide variant Uncertain significance rs886050133 GRCh37 Chromosome 13, 36876952: 36876952
29 SPART NM_015087.4(SPART): c.*924C> A single nucleotide variant Likely benign rs7333861 GRCh38 Chromosome 13, 36303441: 36303441
30 SPART NM_015087.4(SPART): c.*924C> A single nucleotide variant Likely benign rs7333861 GRCh37 Chromosome 13, 36877578: 36877578
31 SPART NM_015087.4(SPART): c.*734T> C single nucleotide variant Uncertain significance rs886050135 GRCh37 Chromosome 13, 36877768: 36877768
32 SPART NM_015087.4(SPART): c.*734T> C single nucleotide variant Uncertain significance rs886050135 GRCh38 Chromosome 13, 36303631: 36303631
33 SPART NM_015087.4(SPART): c.*451G> A single nucleotide variant Uncertain significance rs1054149 GRCh37 Chromosome 13, 36878051: 36878051
34 SPART NM_015087.4(SPART): c.*451G> A single nucleotide variant Uncertain significance rs1054149 GRCh38 Chromosome 13, 36303914: 36303914
35 SPART NM_015087.4(SPART): c.686A> G (p.Gln229Arg) single nucleotide variant Uncertain significance rs570884857 GRCh37 Chromosome 13, 36909282: 36909282
36 SPART NM_015087.4(SPART): c.686A> G (p.Gln229Arg) single nucleotide variant Uncertain significance rs570884857 GRCh38 Chromosome 13, 36335145: 36335145
37 SPART NM_015087.4(SPART): c.360A> G (p.Lys120=) single nucleotide variant Conflicting interpretations of pathogenicity rs149730980 GRCh37 Chromosome 13, 36909608: 36909608
38 SPART NM_015087.4(SPART): c.360A> G (p.Lys120=) single nucleotide variant Conflicting interpretations of pathogenicity rs149730980 GRCh38 Chromosome 13, 36335471: 36335471
39 SPART NM_015087.4(SPART): c.-253G> A single nucleotide variant Likely benign rs2281864 GRCh38 Chromosome 13, 36346475: 36346475
40 SPART NM_015087.4(SPART): c.-253G> A single nucleotide variant Likely benign rs2281864 GRCh37 Chromosome 13, 36920612: 36920612
41 SPART NM_015087.4(SPART): c.*2454A> T single nucleotide variant Uncertain significance rs74868982 GRCh38 Chromosome 13, 36301911: 36301911
42 SPART NM_015087.4(SPART): c.*2454A> T single nucleotide variant Uncertain significance rs74868982 GRCh37 Chromosome 13, 36876048: 36876048
43 SPART NM_015087.4(SPART): c.*2343T> C single nucleotide variant Likely benign rs34434389 GRCh38 Chromosome 13, 36302022: 36302022
44 SPART NM_015087.4(SPART): c.*2343T> C single nucleotide variant Likely benign rs34434389 GRCh37 Chromosome 13, 36876159: 36876159
45 SPART NM_015087.4(SPART): c.1745A> T (p.Asn582Ile) single nucleotide variant Uncertain significance rs139085653 GRCh37 Chromosome 13, 36878758: 36878758
46 SPART NM_015087.4(SPART): c.1745A> T (p.Asn582Ile) single nucleotide variant Uncertain significance rs139085653 GRCh38 Chromosome 13, 36304621: 36304621
47 SPART NM_015087.4(SPART): c.1470C> T (p.Val490=) single nucleotide variant Uncertain significance rs750472401 GRCh37 Chromosome 13, 36888377: 36888377
48 SPART NM_015087.4(SPART): c.1470C> T (p.Val490=) single nucleotide variant Uncertain significance rs750472401 GRCh38 Chromosome 13, 36314240: 36314240
49 SPART NM_015087.4(SPART): c.852G> A (p.Pro284=) single nucleotide variant Uncertain significance rs571222120 GRCh37 Chromosome 13, 36905692: 36905692
50 SPART NM_015087.4(SPART): c.852G> A (p.Pro284=) single nucleotide variant Uncertain significance rs571222120 GRCh38 Chromosome 13, 36331555: 36331555

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

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

# Super pathways Score Top Affiliating Genes
1 11.62 EPS15 ITCH
2 11.52 ITCH WWP1
3 11.5 ITCH WWP1
4 11.45 ITCH WWP1
5 11.34 ITCH WWP1
6 11.31 EPS15 ITCH SPART WWP1
7
Show member pathways
11.19 ITCH WWP1
8 10.66 ITCH WWP1

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

Molecular functions related to Spastic Paraplegia 20, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 8.62 ITCH WWP1

Sources for Spastic Paraplegia 20, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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