SPG15
MCID: SPS125
MIFTS: 51

Spastic Paraplegia 15, Autosomal Recessive (SPG15)

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 15, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 15, Autosomal Recessive:

Name: Spastic Paraplegia 15, Autosomal Recessive 57 72 13 70
Hereditary Spastic Paraplegia 15 12 29 6 15
Kjellin Syndrome 57 12 58 72
Spg15 57 12 58 72
Spastic Paraplegia and Retinal Degeneration 57 12 72
Spastic Paraplegia-Retinal Degeneration Syndrome 12 58
Autosomal Recessive Spastic Paraplegia Type 15 12 58
Hereditary Spastic Paraparesis Type 15 12 58
Autosomal Recessive Spastic Paraplegia 15 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 15
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
age of onset 5 to 19 years
retinal degeneration not always present


HPO:

31
spastic paraplegia 15, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 15, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 15, 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. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration.

MalaCards based summary : Spastic Paraplegia 15, Autosomal Recessive, also known as hereditary spastic paraplegia 15, is related to spastic paraplegia 11, autosomal recessive and spastic paraplegia 64, autosomal recessive, and has symptoms including clonus, ataxia and urgency of micturition. An important gene associated with Spastic Paraplegia 15, Autosomal Recessive is ZFYVE26 (Zinc Finger FYVE-Type Containing 26), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include cerebellum, eye and brain, and related phenotypes are hypoplasia of the corpus callosum and intellectual disability

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE26 gene on chromosome 14q24.1.

OMIM® : 57 Spastic paraplegia-15 is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by Goizet et al., 2009). (270700) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 15, 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, 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 15, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 30.4 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
2 spastic paraplegia 64, autosomal recessive 30.1 ZFYVE26 SPG21 SPG11
3 amyotrophic lateral sclerosis type 5 30.0 ZFYVE26 SPG11 AP5Z1
4 spastic paraplegia 5a 30.0 GBA2 CYP7B1
5 spastic paraplegia 7, autosomal recessive 29.9 SPG7 SPG11
6 mast syndrome 29.9 ZFYVE27 SPG21 SPG11 SPART
7 spasticity 29.8 WASHC5 SPG7 SPAST
8 axonal neuropathy 29.8 ZFYVE26 SPG11 KIF5A
9 spastic paraparesis 29.6 SPG7 SPG11 SPAST GBA2 FA2H
10 neuropathy 29.4 ZFYVE26 SPG7 SPG11 KIF5A ATL1
11 spastic paraplegia 28, autosomal recessive 29.2 SPG7 SPG11 REEP1 FA2H DDHD2 AP5Z1
12 spastic paraplegia 5a, autosomal recessive 28.9 ZFYVE26 SPG7 SPG11 SPAST REEP2 KIF5A
13 spastic paraplegia 54, autosomal recessive 28.6 SPG7 SPG21 SPG11 REEP1 GBA2 FA2H
14 hereditary spastic paraplegia 30 28.3 WASHC5 SPG7 SPG21 SPG11 SPAST REEP1
15 spastic paraplegia 46, autosomal recessive 28.2 ZFYVE26 SPG7 SPG21 SPG11 SPAST GBA2
16 spastic paraplegia 48, autosomal recessive 27.8 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
17 paraplegia 26.3 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
18 hereditary spastic paraplegia 25.9 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
19 spastic paraplegia 15 11.4
20 spastic paraplegia 29, autosomal dominant 10.2 ZFYVE26 WASHC5 SPG21
21 spastic paraplegia 19, autosomal dominant 10.2 ZFYVE26 WASHC5 SPG21
22 nescav syndrome 10.2 ZFYVE26 REEP1 AP5Z1
23 spastic paraplegia 53, autosomal recessive 10.2 WASHC5 ATL1 AP5Z1
24 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
25 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11 AP5Z1
26 parkinsonism 10.1
27 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG7 SPG21 SPG11
28 spastic paraplegia, optic atrophy, and neuropathy 10.1 WASHC5 ATL1 AP5Z1
29 spastic paraplegia 32, autosomal recessive 10.1 WASHC5 SPG7 SPG21 SPG11
30 spinal cord neuroblastoma 10.1 ZFYVE27 REEP1
31 spinal cord primitive neuroectodermal neoplasm 10.1 ZFYVE27 REEP1
32 spastic paraplegia 11 10.1
33 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 WASHC5 SPG21 REEP1
34 spastic paraplegia 63, autosomal recessive 10.1 SPG7 SPG21 SPG11 CYP7B1
35 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
36 spastic paraplegia 50, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11 AP5Z1
37 spastic paraplegia 34, x-linked 10.0 ZFYVE26 WASHC5 SPG21 REEP1
38 spastic paraplegia 76, autosomal recessive 10.0 SPG11 GBA2
39 spastic paraplegia 37, autosomal dominant 10.0 ZFYVE26 SPG21 SPART REEP1
40 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21 GBA2
41 neuropathy, hereditary sensory, type iic 10.0 SPG21 SPG11 REEP1 FA2H
42 spinocerebellar ataxia, autosomal recessive 20 10.0 ZFYVE26 SPG11 DDHD2
43 spastic paraplegia 14, autosomal recessive 10.0 SPG7 SPG21 SPG11 SPAST ATL1
44 spastic paraplegia 16, x-linked 10.0 WASHC5 SPG7 SPG21 SPG11 SPAST
45 x-linked complicated spastic paraplegia type 1 10.0
46 atypical juvenile parkinsonism 10.0
47 microvascular complications of diabetes 5 10.0
48 retinal degeneration 10.0
49 spastic paraplegia 41, autosomal dominant 10.0 SPG21 SPAST KIF5A
50 spastic paraplegia 57, autosomal recessive 9.9 SPG11 REEP1 KIF5A

Graphical network of the top 20 diseases related to Spastic Paraplegia 15, Autosomal Recessive:



Diseases related to Spastic Paraplegia 15, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 15, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 15, Autosomal Recessive:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
6 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
7 abnormal cerebellum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001317
8 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
9 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
10 upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003484
11 peripheral axonal neuropathy 58 31 very rare (1%) Frequent (79-30%) HP:0003477
12 pseudobulbar paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0007024
13 functional abnormality of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000009
14 leg muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0008969
15 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
16 upper limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0006986
17 retinal flecks 58 31 frequent (33%) Frequent (79-30%) HP:0012045
18 deep cerebral white matter hyperdensities 58 31 frequent (33%) Frequent (79-30%) HP:0030892
19 pigmentary retinopathy 31 frequent (33%) HP:0000580
20 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
21 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
22 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
23 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
24 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
25 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
26 saccadic smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0001152
27 hand tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002378
28 frontotemporal dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002145
29 seizure 31 occasional (7.5%) HP:0001250
30 dysarthria 58 31 Frequent (79-30%) HP:0001260
31 lower limb spasticity 58 31 Frequent (79-30%) HP:0002061
32 seizures 58 Occasional (29-5%)
33 spasticity 58 Frequent (79-30%)
34 clonus 31 HP:0002169
35 abnormality of eye movement 58 Occasional (29-5%)
36 ataxia 31 HP:0001251
37 muscle weakness 58 Frequent (79-30%)
38 bowel incontinence 31 HP:0002607
39 visual impairment 31 HP:0000505
40 cognitive impairment 58 Frequent (79-30%)
41 reduced visual acuity 31 HP:0007663
42 psychosis 31 HP:0000709
43 macular degeneration 31 HP:0000608
44 dementia 58 Occasional (29-5%)
45 abnormality of the cerebral white matter 58 Frequent (79-30%)
46 urinary incontinence 31 HP:0000020
47 spastic gait 31 HP:0002064
48 urinary urgency 31 HP:0000012
49 urinary bladder sphincter dysfunction 31 HP:0002839
50 phenotypic abnormality 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
ataxia
dysarthria
lower limb spasticity
more
Neurologic Behavioral Psychiatric Manifestations:
psychosis
mood swings

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Neurologic Peripheral Nervous System:
axonal neuropathy

Muscle Soft Tissue:
distal amyotrophy (hands and feet)

Skeletal Feet:
pes cavus

Head And Neck Eyes:
retinal degeneration
decreased visual acuity
pigmented macular degeneration

Abdomen Gastrointestinal:
fecal incontinence

Head And Neck Ears:
hearing deficit

Clinical features from OMIM®:

270700 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 15, Autosomal Recessive:


clonus; ataxia; urgency of micturition; cerebellar signs

MGI Mouse Phenotypes related to Spastic Paraplegia 15, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AP5Z1 ATL1 DDHD2 FA2H KIF5A REEP1
2 nervous system MP:0003631 9.36 AP5Z1 DDHD2 FA2H KIF5A REEP1 SPAST

Drugs & Therapeutics for Spastic Paraplegia 15, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 15, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 15, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 15, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 15 29 ZFYVE26

Anatomical Context for Spastic Paraplegia 15, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 15, Autosomal Recessive:

40
Cerebellum, Eye, Brain, Retina

Publications for Spastic Paraplegia 15, Autosomal Recessive

Articles related to Spastic Paraplegia 15, Autosomal Recessive:

(show top 50) (show all 66)
# Title Authors PMID Year
1
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 61 57 6
19805727 2009
2
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 6 57 61
18394578 2008
3
Spastic paraplegia 15: linkage and clinical description of three Tunisian families. 6 61 57
18098276 2008
4
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61 57 6
17661097 2007
5
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. 61 6 57
11342696 2001
6
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 61 6
27217339 2016
7
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 61 6
24833714 2014
8
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 6 61
23733235 2013
9
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. 61 6
19917823 2009
10
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 61 57
19438933 2009
11
Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. 57 61
16602018 2006
12
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 6
27544497 2016
13
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
14
Exome sequencing in undiagnosed inherited and sporadic ataxias. 6
25497598 2015
15
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
16
Kjellin syndrome: first case with retinal changes in carriers. 57
16217069 2005
17
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 57
14745065 2004
18
Familial spastic paraplegia with retinal degeneration. 57
5672932 1968
19
[Cerebellar and spastic heredodegeneration with macular degeneration]. 57
13760186 1960
20
Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration. 57
14409555 1959
21
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. 61
33618608 2021
22
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. 61
33771085 2021
23
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia. 61
33637369 2021
24
Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex. 61
33464297 2021
25
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. 61
30508408 2021
26
SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa. 61
33033739 2020
27
[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene]. 61
32641631 2020
28
Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient. 61
32501858 2020
29
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene. 61
31385551 2019
30
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. 61
31745725 2019
31
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. 61
31108397 2019
32
Primary progressive multiple sclerosis and neurofibromatosis type 1. 61
31048186 2019
33
Back From the Brink: Retrieval of Membrane Proteins From Terminal Compartments: Unexpected Pathways for Membrane Protein Retrieval From Vacuoles and Endolysosomes. 61
30706963 2019
34
[Common forms of hereditary spastic paraplegias]. 61
30874534 2019
35
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis. 61
30081747 2019
36
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. 61
30606727 2019
37
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. 61
30555096 2018
38
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias. 61
29726929 2018
39
β-tricalcium phosphate composite ceramics with high compressive strength, enhanced osteogenesis and inhibited osteoclastic activities. 61
29679808 2018
40
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. 61
28933964 2018
41
Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval. 61
29381698 2018
42
Severe axonal neuropathy is a late manifestation of SPG11. 61
27544499 2016
43
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. 61
26715604 2016
44
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
45
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. 61
24359114 2015
46
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. 61
25365221 2014
47
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. 61
24999486 2014
48
Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis. 61
24967841 2014
49
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism. 61
24366652 2014
50
ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. 61
24284334 2014

Variations for Spastic Paraplegia 15, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 15, Autosomal Recessive:

6 (show top 50) (show all 291)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFYVE26 NM_015346.4(ZFYVE26):c.5485-1G>A SNV Pathogenic 750 rs1594898627 GRCh37: 14:68236448-68236448
GRCh38: 14:67769731-67769731
2 ZFYVE26 ZFYVE26, 70-BP DEL, NT6702 Deletion Pathogenic 751 GRCh37:
GRCh38:
3 ZFYVE26 NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter) SNV Pathogenic 752 rs118204050 GRCh37: 14:68268958-68268958
GRCh38: 14:67802241-67802241
4 ZFYVE26 NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs) Deletion Pathogenic 30932 rs753426920 GRCh37: 14:68242762-68242762
GRCh38: 14:67776045-67776045
5 ZFYVE26 NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter) SNV Pathogenic 30933 rs387907057 GRCh37: 14:68238826-68238826
GRCh38: 14:67772109-67772109
6 ZFYVE26 NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter) SNV Pathogenic 209210 rs370828455 GRCh37: 14:68249688-68249688
GRCh38: 14:67782971-67782971
7 ZFYVE26 NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter) SNV Pathogenic 803036 rs763869212 GRCh37: 14:68246999-68246999
GRCh38: 14:67780282-67780282
8 ZFYVE26 NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter) SNV Pathogenic 803037 rs1594912625 GRCh37: 14:68249510-68249510
GRCh38: 14:67782793-67782793
9 ZFYVE26 NM_015346.4(ZFYVE26):c.2074del (p.Leu692fs) Deletion Pathogenic 873272 GRCh37: 14:68264905-68264905
GRCh38: 14:67798188-67798188
10 ZFYVE26 NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) SNV Pathogenic 458283 rs774809466 GRCh37: 14:68249737-68249737
GRCh38: 14:67783020-67783020
11 ZFYVE26 NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) SNV Pathogenic 372839 rs1057518016 GRCh37: 14:68264467-68264467
GRCh38: 14:67797750-67797750
12 ZFYVE26 NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) Deletion Pathogenic 430412 rs768176054 GRCh37: 14:68260428-68260428
GRCh38: 14:67793711-67793711
13 ZFYVE26 NM_015346.4(ZFYVE26):c.886+1G>C SNV Pathogenic 1027980 GRCh37: 14:68274114-68274114
GRCh38: 14:67807397-67807397
14 ZFYVE26 NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter) SNV Pathogenic 1031907 GRCh37: 14:68268871-68268871
GRCh38: 14:67802154-67802154
15 ZFYVE26 NM_015346.4(ZFYVE26):c.3139+1G>A SNV Pathogenic/Likely pathogenic 550192 rs137907310 GRCh37: 14:68252830-68252830
GRCh38: 14:67786113-67786113
16 ZFYVE26 NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) Deletion Likely pathogenic 549675 rs1555399289 GRCh37: 14:68264781-68264783
GRCh38: 14:67798064-67798066
17 ZFYVE26 NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) SNV Likely pathogenic 550774 rs558285072 GRCh37: 14:68244446-68244446
GRCh38: 14:67777729-67777729
18 ZFYVE26 NM_015346.4(ZFYVE26):c.2401+1G>T SNV Likely pathogenic 550882 rs1555398778 GRCh37: 14:68260887-68260887
GRCh38: 14:67794170-67794170
19 ZFYVE26 NM_015346.4(ZFYVE26):c.7128+2T>A SNV Likely pathogenic 551226 rs1049504575 GRCh37: 14:68220786-68220786
GRCh38: 14:67754069-67754069
20 ZFYVE26 NM_015346.4(ZFYVE26):c.363+1G>A SNV Likely pathogenic 551491 rs935301743 GRCh37: 14:68275916-68275916
GRCh38: 14:67809199-67809199
21 ZFYVE26 NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter) Duplication Likely pathogenic 552675 rs1555394824 GRCh37: 14:68232948-68232949
GRCh38: 14:67766231-67766232
22 ZFYVE26 NM_015346.4(ZFYVE26):c.6987-1G>A SNV Likely pathogenic 552763 rs1555393393 GRCh37: 14:68220930-68220930
GRCh38: 14:67754213-67754213
23 ZFYVE26 NM_015346.4(ZFYVE26):c.7188+1G>A SNV Likely pathogenic 553185 rs1555393338 GRCh37: 14:68220423-68220423
GRCh38: 14:67753706-67753706
24 ZFYVE26 NM_015346.4(ZFYVE26):c.5484+1del Deletion Likely pathogenic 553263 rs1555395525 GRCh37: 14:68238763-68238763
GRCh38: 14:67772046-67772046
25 ZFYVE26 NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) SNV Likely pathogenic 553395 rs981804211 GRCh37: 14:68264797-68264797
GRCh38: 14:67798080-67798080
26 ZFYVE26 NM_015346.4(ZFYVE26):c.1017+1G>T SNV Likely pathogenic 553398 rs1224762841 GRCh37: 14:68273261-68273261
GRCh38: 14:67806544-67806544
27 ZFYVE26 NM_015346.4(ZFYVE26):c.4798-1G>T SNV Likely pathogenic 553576 rs1555396303 GRCh37: 14:68244453-68244453
GRCh38: 14:67777736-67777736
28 ZFYVE26 NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) Deletion Likely pathogenic 553921 rs1555398241 GRCh37: 14:68257419-68257419
GRCh38: 14:67790702-67790702
29 ZFYVE26 NM_015346.4(ZFYVE26):c.1436-1G>A SNV Likely pathogenic 554340 rs545219731 GRCh37: 14:68269000-68269000
GRCh38: 14:67802283-67802283
30 ZFYVE26 NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) SNV Likely pathogenic 224987 rs869312914 GRCh37: 14:68219237-68219237
GRCh38: 14:67752520-67752520
31 ZFYVE26 NM_015346.4(ZFYVE26):c.3020-1G>A SNV Likely pathogenic 554552 rs1555397638 GRCh37: 14:68252951-68252951
GRCh38: 14:67786234-67786234
32 ZFYVE26 NM_015346.4(ZFYVE26):c.5484+1G>T SNV Likely pathogenic 551784 rs1555395524 GRCh37: 14:68238763-68238763
GRCh38: 14:67772046-67772046
33 ZFYVE26 NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) Deletion Likely pathogenic 555194 rs868672014 GRCh37: 14:68234496-68234496
GRCh38: 14:67767779-67767779
34 ZFYVE26 NM_015346.4(ZFYVE26):c.3626+1G>C SNV Likely pathogenic 555219 rs1555397310 GRCh37: 14:68251050-68251050
GRCh38: 14:67784333-67784333
35 ZFYVE26 NM_015346.4(ZFYVE26):c.2554-2A>G SNV Likely pathogenic 555535 rs1186788102 GRCh37: 14:68257492-68257492
GRCh38: 14:67790775-67790775
36 ZFYVE26 NM_015346.4(ZFYVE26):c.2333-1G>C SNV Likely pathogenic 555537 rs746606852 GRCh37: 14:68260957-68260957
GRCh38: 14:67794240-67794240
37 ZFYVE26 NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) SNV Likely pathogenic 555771 rs1214483973 GRCh37: 14:68242583-68242583
GRCh38: 14:67775866-67775866
38 ZFYVE26 NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) SNV Likely pathogenic 555834 rs941230062 GRCh37: 14:68260951-68260951
GRCh38: 14:67794234-67794234
39 ZFYVE26 NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs) Indel Likely pathogenic 873312 GRCh37: 14:68257427-68257429
GRCh38: 14:67790710-67790712
40 ZFYVE26 NM_015346.4(ZFYVE26):c.5321-2A>G SNV Likely pathogenic 556932 rs1555395560 GRCh37: 14:68238929-68238929
GRCh38: 14:67772212-67772212
41 ZFYVE26 NM_015346.4(ZFYVE26):c.7416+2T>C SNV Likely pathogenic 557215 rs1555393005 GRCh37: 14:68217767-68217767
GRCh38: 14:67751050-67751050
42 ZFYVE26 NM_015346.4(ZFYVE26):c.7371+1G>A SNV Likely pathogenic 557250 rs1555393181 GRCh37: 14:68219060-68219060
GRCh38: 14:67752343-67752343
43 ZFYVE26 NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) SNV Likely pathogenic 556397 rs200832994 GRCh37: 14:68274409-68274409
GRCh38: 14:67807692-67807692
44 ZFYVE26 NM_015346.4(ZFYVE26):c.3524-2A>G SNV Likely pathogenic 556631 rs1555397331 GRCh37: 14:68251155-68251155
GRCh38: 14:67784438-67784438
45 ZFYVE26 NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) Deletion Likely pathogenic 558090 rs771393692 GRCh37: 14:68219175-68219175
GRCh38: 14:67752458-67752458
46 ZFYVE26 NM_015346.4(ZFYVE26):c.2248+2T>C SNV Likely pathogenic 558093 rs1555399278 GRCh37: 14:68264729-68264729
GRCh38: 14:67798012-67798012
47 ZFYVE26 NM_015346.4(ZFYVE26):c.5485-2A>G SNV Likely pathogenic 558095 rs1555395288 GRCh37: 14:68236449-68236449
GRCh38: 14:67769732-67769732
48 ZFYVE26 NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) SNV Likely pathogenic 749 rs118204049 GRCh37: 14:68249557-68249557
GRCh38: 14:67782840-67782840
49 ZFYVE26 NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs) Deletion Likely pathogenic 488442 rs1555399288 GRCh37: 14:68264757-68264757
GRCh38: 14:67798040-67798040
50 ZFYVE26 NM_015346.4(ZFYVE26):c.2554-1G>C SNV Likely pathogenic 488743 rs760559263 GRCh37: 14:68257491-68257491
GRCh38: 14:67790774-67790774

Expression for Spastic Paraplegia 15, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 15, Autosomal Recessive.

Pathways for Spastic Paraplegia 15, Autosomal Recessive

Pathways related to Spastic Paraplegia 15, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 ZFYVE27 WASHC5 SPG21 SPART KIF5A

GO Terms for Spastic Paraplegia 15, Autosomal Recessive

Cellular components related to Spastic Paraplegia 15, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.91 ZFYVE27 WASHC5 SPAST REEP2 REEP1 GBA2
2 endosome GO:0005768 9.8 ZFYVE27 WASHC5 SPG21 SPAST NIPA1 AP5S1
3 endoplasmic reticulum membrane GO:0005789 9.76 ZFYVE27 SPAST REEP2 REEP1 GBA2 FA2H
4 lysosomal membrane GO:0005765 9.71 ZFYVE26 SPG11 AP5S1 AP5B1
5 axon cytoplasm GO:1904115 9.54 SPG7 SPAST KIF5A
6 AP-type membrane coat adaptor complex GO:0030119 9.13 AP5Z1 AP5S1 AP5B1
7 endoplasmic reticulum tubular network GO:0071782 9.02 ZFYVE27 SPAST REEP2 REEP1 ATL1

Biological processes related to Spastic Paraplegia 15, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair via homologous recombination GO:0000724 9.33 ZFYVE26 AP5Z1 AP5S1
2 lipid droplet organization GO:0034389 9.32 SPART DDHD2
3 synaptic vesicle transport GO:0048489 9.26 SPG11 KIF5A
4 endoplasmic reticulum tubular network organization GO:0071786 8.96 REEP2 REEP1
5 endosomal transport GO:0016197 8.92 WASHC5 AP5Z1 AP5S1 AP5B1

Molecular functions related to Spastic Paraplegia 15, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 SPAST REEP2 REEP1 KIF5A

Sources for Spastic Paraplegia 15, Autosomal Recessive

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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