SPG15
MCID: SPS025
MIFTS: 30

Spastic Paraplegia 15 (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

MalaCards integrated aliases for Spastic Paraplegia 15:

Name: Spastic Paraplegia 15 20 6
Spastic Paraplegia and Retinal Degeneration 20 43
Kjellin Syndrome 20 43
Spg15 20 43
Recessive Spastic Paraplegia with Retinal Degeneration 20
Spastic Paraplegia 15, Autosomal Recessive 70
Autosomal Recessive Spastic Paraplegia 15 43
Paraplegia, Spastic, Type 15 39
Spastic Paraplegia Type 15 43

Classifications:



External Ids:

UMLS 70 C1849128

Summaries for Spastic Paraplegia 15

MedlinePlus Genetics : 43 Spastic paraplegia type 15 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). Spastic paraplegia type 15 is classified as a complex hereditary spastic paraplegia because it involves all four limbs as well as additional features, including abnormalities of the brain. In addition to the muscles and brain, spastic paraplegia type 15 affects the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence with the development of weak muscle tone (hypotonia), difficulty walking, or intellectual disability. In almost all affected individuals, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin and becomes thinner over time. Additionally, there is often a loss (atrophy) of nerve cells in several parts of the brain, including the cerebral cortex, which controls thinking and emotions, and the cerebellum, which coordinates movement.People with this form of spastic paraplegia can have numbness, tingling, or pain in the arms and legs (sensory neuropathy); impairment of the nerves used for muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the lower limbs; muscle wasting (amyotrophy); or reduced bladder control. Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia). People with spastic paraplegia type 15 may have an eye condition called pigmentary maculopathy that often impairs vision. This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision.Most people with spastic paraplegia type 15 experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, many people require walking aids or wheelchair assistance in adulthood.

MalaCards based summary : Spastic Paraplegia 15, also known as spastic paraplegia and retinal degeneration, is related to spastic paraplegia 15, autosomal recessive and parkinsonism, and has symptoms including clonus, ataxia and urgency of micturition. An important gene associated with Spastic Paraplegia 15 is ZFYVE26 (Zinc Finger FYVE-Type Containing 26). Affiliated tissues include brain, eye and cortex.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100996 Definition Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.

Related Diseases for Spastic Paraplegia 15

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 15, autosomal recessive 11.9
2 parkinsonism 10.1
3 paraplegia 10.1
4 spasticity 10.1
5 spastic paraplegia 11 10.1
6 mast syndrome 10.0
7 axonal neuropathy 10.0
8 x-linked complicated spastic paraplegia type 1 10.0
9 atypical juvenile parkinsonism 10.0
10 spastic paraplegia 11, autosomal recessive 10.0
11 polyneuropathy 10.0
12 hereditary spastic paraplegia 10.0
13 peripheral nervous system disease 10.0
14 retinal degeneration 10.0
15 neuropathy 10.0
16 spastic paraparesis 10.0
17 microvascular complications of diabetes 5 10.0
18 spastic paraplegia 5a, autosomal recessive 9.8
19 ataxia and polyneuropathy, adult-onset 9.8
20 amyotrophic lateral sclerosis 5, juvenile 9.8
21 spastic paraplegia 7, autosomal recessive 9.8
22 spastic paraplegia 24, autosomal recessive 9.8
23 epidermolysis bullosa simplex superficialis 9.8
24 spastic paraplegia 28, autosomal recessive 9.8
25 spastic paraplegia 48, autosomal recessive 9.8
26 spastic paraplegia 46, autosomal recessive 9.8
27 spastic paraplegia 54, autosomal recessive 9.8
28 spastic paraplegia 64, autosomal recessive 9.8
29 charcot-marie-tooth disease, axonal, type 2x 9.8
30 spastic paraplegia 82, autosomal recessive 9.8
31 amyotrophic lateral sclerosis type 5 9.8
32 hereditary spastic paraplegia 30 9.8
33 cataract 9.8
34 juvenile amyotrophic lateral sclerosis 9.8
35 spastic paraplegia 24 9.8
36 spastic paraplegia 5a 9.8
37 tremor 9.8

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



Diseases related to Spastic Paraplegia 15

Symptoms & Phenotypes for Spastic Paraplegia 15

UMLS symptoms related to Spastic Paraplegia 15:


clonus; ataxia; urgency of micturition; cerebellar signs

Drugs & Therapeutics for Spastic Paraplegia 15

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 15

Genetic Tests for Spastic Paraplegia 15

Anatomical Context for Spastic Paraplegia 15

MalaCards organs/tissues related to Spastic Paraplegia 15:

40
Brain, Eye, Cortex, Cerebellum, Spinal Cord

Publications for Spastic Paraplegia 15

Articles related to Spastic Paraplegia 15:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 6 61
27217339 2016
2
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 61 6
24833714 2014
3
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 6 61
23733235 2013
4
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. 61 6
19917823 2009
5
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 61 6
19805727 2009
6
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 6 61
18394578 2008
7
Spastic paraplegia 15: linkage and clinical description of three Tunisian families. 61 6
18098276 2008
8
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 6 61
17661097 2007
9
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. 6 61
11342696 2001
10
Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 6
27544497 2016
11
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
12
Exome sequencing in undiagnosed inherited and sporadic ataxias. 6
25497598 2015
13
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
14
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. 61
33618608 2021
15
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
16
Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex. 61
33464297 2021
17
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia. 61
33637369 2021
18
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. 61
30508408 2021
19
SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa. 61
33033739 2020
20
[A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene]. 61
32641631 2020
21
Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient. 61
32501858 2020
22
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene. 61
31385551 2019
23
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. 61
31745725 2019
24
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics. 61
31108397 2019
25
Primary progressive multiple sclerosis and neurofibromatosis type 1. 61
31048186 2019
26
Back From the Brink: Retrieval of Membrane Proteins From Terminal Compartments: Unexpected Pathways for Membrane Protein Retrieval From Vacuoles and Endolysosomes. 61
30706963 2019
27
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
28
[Common forms of hereditary spastic paraplegias]. 61
30874534 2019
29
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. 61
30606727 2019
30
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis. 61
30555096 2018
31
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias. 61
29726929 2018
32
β-tricalcium phosphate composite ceramics with high compressive strength, enhanced osteogenesis and inhibited osteoclastic activities. 61
29679808 2018
33
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia. 61
28933964 2018
34
Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval. 61
29381698 2018
35
Severe axonal neuropathy is a late manifestation of SPG11. 61
27544499 2016
36
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. 61
26715604 2016
37
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
38
SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. 61
24359114 2015
39
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. 61
25365221 2014
40
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. 61
24999486 2014
41
Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis. 61
24967841 2014
42
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism. 61
24366652 2014
43
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 61
24337409 2014
44
ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. 61
24284334 2014
45
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. 61
24603320 2014
46
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. 61
23825025 2013
47
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. 61
24367272 2013
48
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. 61
22801083 2012
49
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
50
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 61
21214876 2012

Variations for Spastic Paraplegia 15

ClinVar genetic disease variations for Spastic Paraplegia 15:

6 (show top 50) (show all 291)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFYVE26 NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs) Deletion Pathogenic 30932 rs753426920 GRCh37: 14:68242762-68242762
GRCh38: 14:67776045-67776045
2 ZFYVE26 NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter) SNV Pathogenic 30933 rs387907057 GRCh37: 14:68238826-68238826
GRCh38: 14:67772109-67772109
3 ZFYVE26 NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter) SNV Pathogenic 209210 rs370828455 GRCh37: 14:68249688-68249688
GRCh38: 14:67782971-67782971
4 ZFYVE26 NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) SNV Pathogenic 372839 rs1057518016 GRCh37: 14:68264467-68264467
GRCh38: 14:67797750-67797750
5 ZFYVE26 NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs) Deletion Pathogenic 430412 rs768176054 GRCh37: 14:68260428-68260428
GRCh38: 14:67793711-67793711
6 ZFYVE26 NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter) SNV Pathogenic 458283 rs774809466 GRCh37: 14:68249737-68249737
GRCh38: 14:67783020-67783020
7 ZFYVE26 NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter) SNV Pathogenic 803037 rs1594912625 GRCh37: 14:68249510-68249510
GRCh38: 14:67782793-67782793
8 ZFYVE26 NM_015346.4(ZFYVE26):c.2074del (p.Leu692fs) Deletion Pathogenic 873272 GRCh37: 14:68264905-68264905
GRCh38: 14:67798188-67798188
9 ZFYVE26 NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter) SNV Pathogenic 752 rs118204050 GRCh37: 14:68268958-68268958
GRCh38: 14:67802241-67802241
10 ZFYVE26 NM_015346.4(ZFYVE26):c.6702_6771del (p.Trp2234fs) Deletion Pathogenic 751 GRCh37: 14:68222680-68222749
GRCh38: 14:67755963-67756032
11 ZFYVE26 NM_015346.4(ZFYVE26):c.5485-1G>A SNV Pathogenic 750 rs1594898627 GRCh37: 14:68236448-68236448
GRCh38: 14:67769731-67769731
12 ZFYVE26 NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter) SNV Pathogenic 803036 rs763869212 GRCh37: 14:68246999-68246999
GRCh38: 14:67780282-67780282
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.4312C>T (p.Arg1438Ter) SNV Likely pathogenic 749 rs118204049 GRCh37: 14:68249557-68249557
GRCh38: 14:67782840-67782840
17 ZFYVE26 NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs) Indel Likely pathogenic 873312 GRCh37: 14:68257427-68257429
GRCh38: 14:67790710-67790712
18 ZFYVE26 NM_015346.4(ZFYVE26):c.7371+1G>A SNV Likely pathogenic 557250 rs1555393181 GRCh37: 14:68219060-68219060
GRCh38: 14:67752343-67752343
19 ZFYVE26 NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) SNV Likely pathogenic 556397 rs200832994 GRCh37: 14:68274409-68274409
GRCh38: 14:67807692-67807692
20 ZFYVE26 NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter) SNV Likely pathogenic 555771 rs1214483973 GRCh37: 14:68242583-68242583
GRCh38: 14:67775866-67775866
21 ZFYVE26 NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer) Deletion Likely pathogenic 553921 rs1555398241 GRCh37: 14:68257419-68257419
GRCh38: 14:67790702-67790702
22 ZFYVE26 NM_015346.4(ZFYVE26):c.4798-1G>T SNV Likely pathogenic 553576 rs1555396303 GRCh37: 14:68244453-68244453
GRCh38: 14:67777736-67777736
23 ZFYVE26 NM_015346.4(ZFYVE26):c.5484+1G>T SNV Likely pathogenic 551784 rs1555395524 GRCh37: 14:68238763-68238763
GRCh38: 14:67772046-67772046
24 ZFYVE26 NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) SNV Likely pathogenic 424005 rs370837940 GRCh37: 14:68220875-68220875
GRCh38: 14:67754158-67754158
25 ZFYVE26 NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs) Duplication Likely pathogenic 930779 GRCh37: 14:68229010-68229011
GRCh38: 14:67762293-67762294
26 ZFYVE26 NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter) SNV Likely pathogenic 930780 GRCh37: 14:68249716-68249716
GRCh38: 14:67782999-67782999
27 ZFYVE26 NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro) SNV Likely pathogenic 932301 GRCh37: 14:68257405-68257405
GRCh38: 14:67790688-67790688
28 ZFYVE26 NM_015346.4(ZFYVE26):c.3020-2A>G SNV Likely pathogenic 555861 rs1470672632 GRCh37: 14:68252952-68252952
GRCh38: 14:67786235-67786235
29 ZFYVE26 NM_015346.4(ZFYVE26):c.3524-2A>G SNV Likely pathogenic 556631 rs1555397331 GRCh37: 14:68251155-68251155
GRCh38: 14:67784438-67784438
30 ZFYVE26 NM_015346.4(ZFYVE26):c.5321-2A>G SNV Likely pathogenic 556932 rs1555395560 GRCh37: 14:68238929-68238929
GRCh38: 14:67772212-67772212
31 ZFYVE26 NM_015346.4(ZFYVE26):c.7416+2T>C SNV Likely pathogenic 557215 rs1555393005 GRCh37: 14:68217767-68217767
GRCh38: 14:67751050-67751050
32 ZFYVE26 NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer) Deletion Likely pathogenic 558090 rs771393692 GRCh37: 14:68219175-68219175
GRCh38: 14:67752458-67752458
33 ZFYVE26 NM_015346.4(ZFYVE26):c.2248+2T>C SNV Likely pathogenic 558093 rs1555399278 GRCh37: 14:68264729-68264729
GRCh38: 14:67798012-67798012
34 ZFYVE26 NM_015346.4(ZFYVE26):c.5485-2A>G SNV Likely pathogenic 558095 rs1555395288 GRCh37: 14:68236449-68236449
GRCh38: 14:67769732-67769732
35 ZFYVE26 NM_015346.4(ZFYVE26):c.274-2A>G SNV Likely pathogenic 558669 rs769329153 GRCh37: 14:68276008-68276008
GRCh38: 14:67809291-67809291
36 ZFYVE26 NM_015346.4(ZFYVE26):c.363+2T>G SNV Likely pathogenic 558670 rs760001730 GRCh37: 14:68275915-68275915
GRCh38: 14:67809198-67809198
37 ZFYVE26 NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter) SNV Likely pathogenic 553395 rs981804211 GRCh37: 14:68264797-68264797
GRCh38: 14:67798080-67798080
38 ZFYVE26 NM_015346.4(ZFYVE26):c.1017+1G>T SNV Likely pathogenic 553398 rs1224762841 GRCh37: 14:68273261-68273261
GRCh38: 14:67806544-67806544
39 ZFYVE26 NM_015346.4(ZFYVE26):c.1436-1G>A SNV Likely pathogenic 554340 rs545219731 GRCh37: 14:68269000-68269000
GRCh38: 14:67802283-67802283
40 ZFYVE26 NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) SNV Likely pathogenic 224987 rs869312914 GRCh37: 14:68219237-68219237
GRCh38: 14:67752520-67752520
41 ZFYVE26 NM_015346.4(ZFYVE26):c.3020-1G>A SNV Likely pathogenic 554552 rs1555397638 GRCh37: 14:68252951-68252951
GRCh38: 14:67786234-67786234
42 ZFYVE26 NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs) Deletion Likely pathogenic 555194 rs868672014 GRCh37: 14:68234496-68234496
GRCh38: 14:67767779-67767779
43 ZFYVE26 NM_015346.4(ZFYVE26):c.3626+1G>C SNV Likely pathogenic 555219 rs1555397310 GRCh37: 14:68251050-68251050
GRCh38: 14:67784333-67784333
44 ZFYVE26 NM_015346.4(ZFYVE26):c.2554-2A>G SNV Likely pathogenic 555535 rs1186788102 GRCh37: 14:68257492-68257492
GRCh38: 14:67790775-67790775
45 ZFYVE26 NM_015346.4(ZFYVE26):c.2333-1G>C SNV Likely pathogenic 555537 rs746606852 GRCh37: 14:68260957-68260957
GRCh38: 14:67794240-67794240
46 ZFYVE26 NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) SNV Likely pathogenic 555834 rs941230062 GRCh37: 14:68260951-68260951
GRCh38: 14:67794234-67794234
47 ZFYVE26 NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) Deletion Likely pathogenic 549675 rs1555399289 GRCh37: 14:68264781-68264783
GRCh38: 14:67798064-67798066
48 ZFYVE26 NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs) Deletion Likely pathogenic 488442 rs1555399288 GRCh37: 14:68264757-68264757
GRCh38: 14:67798040-67798040
49 ZFYVE26 NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) SNV Likely pathogenic 550774 rs558285072 GRCh37: 14:68244446-68244446
GRCh38: 14:67777729-67777729
50 ZFYVE26 NM_015346.4(ZFYVE26):c.2401+1G>T SNV Likely pathogenic 550882 rs1555398778 GRCh37: 14:68260887-68260887
GRCh38: 14:67794170-67794170

Expression for Spastic Paraplegia 15

Search GEO for disease gene expression data for Spastic Paraplegia 15.

Pathways for Spastic Paraplegia 15

GO Terms for Spastic Paraplegia 15

Sources for Spastic Paraplegia 15

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
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36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
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51 NDF-RT
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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