MCID: SPS125
MIFTS: 41

Spastic Paraplegia 15, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 13 73
Kjellin Syndrome 57 12 59 75
Spg15 57 12 59 75
Spastic Paraplegia and Retinal Degeneration 57 12 75
Spastic Paraplegia-Retinal Degeneration Syndrome 12 59
Autosomal Recessive Spastic Paraplegia Type 15 12 59
Hereditary Spastic Paraparesis Type 15 12 59
Hereditary Spastic Paraplegia 15 12 15
Autosomal Recessive Spastic Paraplegia 15 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 15
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 15, autosomal recessive:
Onset and clinical course phenotypic variability progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 15, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 kjellin syndrome, is related to spasticity and spastic paraparesis, and has symptoms including ataxia, clonus and urgency of micturition. An important gene associated with Spastic Paraplegia 15, Autosomal Recessive is ZFYVE26 (Zinc Finger FYVE-Type Containing 26). Affiliated tissues include brain, eye and retina, and related phenotypes are nystagmus and diabetes mellitus

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)

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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.5 SPG7 TECPR2
2 spastic paraparesis 28.6 FA2H SPG11 SPG7 TECPR2
3 spastic paraplegia 15 11.2
4 spastic paraplegia 39, autosomal recessive 10.5 AP5Z1 ZFYVE26
5 amyotrophic lateral sclerosis type 5 10.4 SPG11 SPG21
6 spastic paraplegia 18, autosomal recessive 10.4 AP5Z1 SPG21
7 mast syndrome 10.4 SPG11 SPG21
8 spastic paraplegia 44, autosomal recessive 10.4 AP5Z1 SPG21
9 spastic paraplegia 8, autosomal dominant 10.3 AP5Z1 SPG11
10 spastic paraplegia 30, autosomal recessive 10.3 AP5Z1 SPG21
11 spastic paraplegia 24, autosomal recessive 10.3 SPG21 SPG7
12 spastic paraplegia 10, autosomal dominant 10.3 AP5Z1 SPG11
13 masa syndrome 10.3 AP5Z1 SPG11
14 spastic paraplegia 28, autosomal recessive 10.2 AP5Z1 DDHD2
15 spastic paraplegia 4, autosomal dominant 10.1 SPG11 SPG7
16 spastic paraplegia 32, autosomal recessive 9.9 SPG11 SPG21 SPG7
17 spastic paraplegia 11, autosomal recessive 9.9 SPG11 SPG21 SPG7
18 spastic paraplegia 46, autosomal recessive 9.8 CYP2U1 SPG21
19 spastic paraplegia 73, autosomal dominant 9.7 FA2H SPG7
20 charcot-marie-tooth disease, axonal, type 2t 9.7 CYP2U1 SPG21
21 spastic paraplegia 76, autosomal recessive 9.7 FA2H SPG7
22 spastic paraplegia 56, autosomal recessive 9.6 CYP2U1 DDHD2
23 spastic paraplegia 49, autosomal recessive 9.4 SPG11 SPG7 TECPR2 ZFYVE26
24 spastic paraplegia 54, autosomal recessive 9.3 AP5Z1 CYP2U1 DDHD2
25 3-methylglutaconic aciduria, type iii 9.3 FA2H SPG7
26 charcot-marie-tooth disease, axonal, type 2e 9.1 CYP2U1 SPG11 SPG21 ZFYVE26
27 spastic paraplegia 48, autosomal recessive 9.0 AP5Z1 DDHD2 SPG11 SPG21 ZFYVE26
28 paraplegia 7.8 AP5Z1 DDHD2 FA2H SPG11 SPG21 SPG7
29 spastic paraplegia 35, autosomal recessive 7.3 AP5Z1 CYP2U1 DDHD2 FA2H SPG11 SPG21
30 hereditary spastic paraplegia 6.8 AP5Z1 CYP2U1 DDHD2 FA2H SPG11 SPG21

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
clonus
lower limb spasticity
more
Neurologic Behavioral Psychiatric Manifestations:
psychosis
mood swings

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

Neurologic Peripheral Nervous System:
axonal neuropathy

Muscle Soft Tissue:
distal amyotrophy (hands and feet)

Skeletal Feet:
pes cavus

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Abdomen Gastrointestinal:
fecal incontinence

Head And Neck Ears:
hearing deficit


Clinical features from OMIM:

270700

Human phenotypes related to Spastic Paraplegia 15, Autosomal Recessive:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 very rare (1%) Frequent (79-30%) HP:0000639
2 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 dysarthria 59 32 Frequent (79-30%) HP:0001260
6 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
7 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
8 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
9 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
10 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
11 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
12 saccadic smooth pursuit 59 32 occasional (7.5%) Occasional (29-5%) HP:0001152
13 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
14 abnormality of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0001317
15 lower limb spasticity 59 32 Frequent (79-30%) HP:0002061
16 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
17 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
18 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
19 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
20 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
21 frontotemporal dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002145
22 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
23 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
24 peripheral axonal neuropathy 59 32 very rare (1%) Frequent (79-30%) HP:0003477
25 functional abnormality of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000009
26 hand tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002378
27 pseudobulbar paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0007024
28 upper limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0006986
29 retinal flecks 59 32 frequent (33%) Frequent (79-30%) HP:0012045
30 deep cerebral white matter hyperdensities 59 32 frequent (33%) Frequent (79-30%) HP:0030892
31 abnormality of eye movement 59 Occasional (29-5%)
32 ataxia 32 HP:0001251
33 spasticity 59 Frequent (79-30%)
34 muscle weakness 59 Frequent (79-30%)
35 clonus 32 HP:0002169
36 bowel incontinence 32 HP:0002607
37 visual impairment 32 HP:0000505
38 cognitive impairment 59 Frequent (79-30%)
39 urinary bladder sphincter dysfunction 32 HP:0002839
40 reduced visual acuity 32 HP:0007663
41 psychosis 32 HP:0000709
42 dementia 59 Occasional (29-5%)
43 macular degeneration 32 HP:0000608
44 spastic gait 32 HP:0002064
45 urinary incontinence 32 HP:0000020
46 phenotypic abnormality 59 Occasional (29-5%)
47 lower limb muscle weakness 32 HP:0007340
48 pigmentary retinopathy 32 frequent (33%) HP:0000580
49 abnormality of the cerebral white matter 59 Frequent (79-30%)
50 urinary urgency 32 HP:0000012

UMLS symptoms related to Spastic Paraplegia 15, Autosomal Recessive:


ataxia, clonus, urgency of micturition, cerebellar signs

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

Anatomical Context for Spastic Paraplegia 15, Autosomal Recessive

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

41
Brain, Eye, Retina, Cerebellum

Publications for Spastic Paraplegia 15, Autosomal Recessive

Articles related to Spastic Paraplegia 15, Autosomal Recessive:

# Title Authors Year
1
Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance. ( 24924740 )
2014
2
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. ( 21035867 )
2011
3
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. ( 19194956 )
2009
4
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. ( 18394578 )
2008

Variations for Spastic Paraplegia 15, Autosomal Recessive

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

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFYVE26 NM_015346.3(ZFYVE26): c.4312C> T (p.Arg1438Ter) single nucleotide variant Likely pathogenic rs118204049 GRCh37 Chromosome 14, 68249557: 68249557
2 ZFYVE26 NM_015346.3(ZFYVE26): c.4312C> T (p.Arg1438Ter) single nucleotide variant Likely pathogenic rs118204049 GRCh38 Chromosome 14, 67782840: 67782840
3 ZFYVE26 ZFYVE26, IVS28AS, G-A, -1 single nucleotide variant Pathogenic
4 ZFYVE26 ZFYVE26, 70-BP DEL, NT6702 deletion Pathogenic
5 ZFYVE26 NM_015346.3(ZFYVE26): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs118204050 GRCh37 Chromosome 14, 68268958: 68268958
6 ZFYVE26 NM_015346.3(ZFYVE26): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs118204050 GRCh38 Chromosome 14, 67802241: 67802241
7 ZFYVE26 ZFYVE26, 1-BP DEL, 5036T deletion Pathogenic
8 ZFYVE26 NM_015346.3(ZFYVE26): c.5422C> T (p.Gln1808Ter) single nucleotide variant Pathogenic rs387907057 GRCh37 Chromosome 14, 68238826: 68238826
9 ZFYVE26 NM_015346.3(ZFYVE26): c.5422C> T (p.Gln1808Ter) single nucleotide variant Pathogenic rs387907057 GRCh38 Chromosome 14, 67772109: 67772109
10 ZFYVE26 NM_015346.3(ZFYVE26): c.4181G> A (p.Trp1394Ter) single nucleotide variant Pathogenic rs370828455 GRCh37 Chromosome 14, 68249688: 68249688
11 ZFYVE26 NM_015346.3(ZFYVE26): c.4181G> A (p.Trp1394Ter) single nucleotide variant Pathogenic rs370828455 GRCh38 Chromosome 14, 67782971: 67782971
12 ZFYVE26 NM_015346.3(ZFYVE26): c.5485-1delG deletion Pathogenic/Likely pathogenic rs878855013 GRCh37 Chromosome 14, 68236448: 68236448
13 ZFYVE26 NM_015346.3(ZFYVE26): c.5485-1delG deletion Pathogenic/Likely pathogenic rs878855013 GRCh38 Chromosome 14, 67769731: 67769731
14 ZFYVE26 NM_015346.3(ZFYVE26): c.3373delC (p.His1125Thrfs) deletion Pathogenic rs878855011 GRCh37 Chromosome 14, 68251926: 68251926
15 ZFYVE26 NM_015346.3(ZFYVE26): c.3373delC (p.His1125Thrfs) deletion Pathogenic rs878855011 GRCh38 Chromosome 14, 67785209: 67785209
16 ZFYVE26 NM_015346.3(ZFYVE26): c.4854C> T (p.Leu1618=) single nucleotide variant Benign/Likely benign rs151287975 GRCh37 Chromosome 14, 68244396: 68244396
17 ZFYVE26 NM_015346.3(ZFYVE26): c.4854C> T (p.Leu1618=) single nucleotide variant Benign/Likely benign rs151287975 GRCh38 Chromosome 14, 67777679: 67777679
18 ZFYVE26 NM_015346.3(ZFYVE26): c.6419G> A (p.Arg2140Gln) single nucleotide variant Uncertain significance rs373855798 GRCh37 Chromosome 14, 68228252: 68228252
19 ZFYVE26 NM_015346.3(ZFYVE26): c.6419G> A (p.Arg2140Gln) single nucleotide variant Uncertain significance rs373855798 GRCh38 Chromosome 14, 67761535: 67761535
20 ZFYVE26 NM_015346.3(ZFYVE26): c.2222delA (p.Lys741Argfs) deletion Likely pathogenic GRCh37 Chromosome 14, 68264757: 68264757
21 ZFYVE26 NM_015346.3(ZFYVE26): c.2222delA (p.Lys741Argfs) deletion Likely pathogenic GRCh38 Chromosome 14, 67798040: 67798040

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

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 organelle membrane GO:0031090 8.62 CYP2U1 FA2H

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 8.62 AP5Z1 ZFYVE26

Sources for Spastic Paraplegia 15, Autosomal Recessive

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