MCID: SPS025
MIFTS: 28

Spastic Paraplegia 15

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

Aliases & Classifications for Spastic Paraplegia 15

MalaCards integrated aliases for Spastic Paraplegia 15:

Name: Spastic Paraplegia 15 54 30 6
Spastic Paraplegia and Retinal Degeneration 54 26
Kjellin Syndrome 54 26
Spg15 54 26
Recessive Spastic Paraplegia with Retinal Degeneration 54
Spastic Paraplegia 15, Autosomal Recessive 74
Autosomal Recessive Spastic Paraplegia 15 26
Paraplegia, Spastic, Type 15 41
Spastic Paraplegia Type 15 26

Classifications:



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UMLS 74 C1849128

Summaries for Spastic Paraplegia 15

Genetics Home Reference : 26 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.

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 100996Disease definitionAutosomal 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.Visit the Orphanet disease page for more resources.

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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 51 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 15, autosomal recessive 12.7
2 hereditary spastic paraplegia 10.4
3 spastic paraplegia 11, autosomal recessive 10.4
4 retinal degeneration 10.0
5 spastic paraplegia 48, autosomal recessive 10.0
6 charcot-marie-tooth disease, axonal, type 2x 10.0
7 amyotrophic lateral sclerosis type 5 10.0
8 spastic paraparesis 10.0
9 atypical juvenile parkinsonism 10.0
10 paraplegia 10.0

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:


ataxia, clonus, 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

Genetic tests related to Spastic Paraplegia 15:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 15 30 ZFYVE26

Anatomical Context for Spastic Paraplegia 15

MalaCards organs/tissues related to Spastic Paraplegia 15:

42
Brain, Spinal Cord, Skin, Bone, Eye

Publications for Spastic Paraplegia 15

Articles related to Spastic Paraplegia 15:

# Title Authors Year
1
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. ( 19805727 )
2009
2
Spastic paraplegia 15: linkage and clinical description of three Tunisian families. ( 18098276 )
2008
3
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. ( 18394578 )
2008
4
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. ( 17661097 )
2007
5
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. ( 11342696 )
2001

Variations for Spastic Paraplegia 15

ClinVar genetic disease variations for Spastic Paraplegia 15:

6 (show top 50) (show all 157)
# 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.3070C> T (p.Pro1024Ser) single nucleotide variant Uncertain significance rs267604032 GRCh37 Chromosome 14, 68252900: 68252900
11 ZFYVE26 NM_015346.3(ZFYVE26): c.3070C> T (p.Pro1024Ser) single nucleotide variant Uncertain significance rs267604032 GRCh38 Chromosome 14, 67786183: 67786183
12 ZFYVE26 NM_015346.3(ZFYVE26): c.3070C> T (p.Pro1024Ser) single nucleotide variant Uncertain significance rs267604032 NCBI36 Chromosome 14, 67322653: 67322653
13 ZFYVE26 NM_015346.3(ZFYVE26): c.2716C> T (p.Arg906Cys) single nucleotide variant Uncertain significance rs267604033 GRCh37 Chromosome 14, 68257328: 68257328
14 ZFYVE26 NM_015346.3(ZFYVE26): c.2716C> T (p.Arg906Cys) single nucleotide variant Uncertain significance rs267604033 GRCh38 Chromosome 14, 67790611: 67790611
15 ZFYVE26 NM_015346.3(ZFYVE26): c.2716C> T (p.Arg906Cys) single nucleotide variant Uncertain significance rs267604033 NCBI36 Chromosome 14, 67327081: 67327081
16 ZFYVE26 NM_015346.3(ZFYVE26): c.3118T> A (p.Ser1040Thr) single nucleotide variant Benign/Likely benign rs112787369 GRCh37 Chromosome 14, 68252852: 68252852
17 ZFYVE26 NM_015346.3(ZFYVE26): c.3118T> A (p.Ser1040Thr) single nucleotide variant Benign/Likely benign rs112787369 GRCh38 Chromosome 14, 67786135: 67786135
18 ZFYVE26 NM_015346.3(ZFYVE26): c.7055C> T (p.Thr2352Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151166497 GRCh37 Chromosome 14, 68220861: 68220861
19 ZFYVE26 NM_015346.3(ZFYVE26): c.7055C> T (p.Thr2352Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151166497 GRCh38 Chromosome 14, 67754144: 67754144
20 ZFYVE26 NM_015346.3(ZFYVE26): c.4181G> A (p.Trp1394Ter) single nucleotide variant Pathogenic rs370828455 GRCh37 Chromosome 14, 68249688: 68249688
21 ZFYVE26 NM_015346.3(ZFYVE26): c.4181G> A (p.Trp1394Ter) single nucleotide variant Pathogenic rs370828455 GRCh38 Chromosome 14, 67782971: 67782971
22 ZFYVE26 NM_015346.3(ZFYVE26): c.5260G> A (p.Ala1754Thr) single nucleotide variant Uncertain significance rs146968463 GRCh37 Chromosome 14, 68241793: 68241793
23 ZFYVE26 NM_015346.3(ZFYVE26): c.5260G> A (p.Ala1754Thr) single nucleotide variant Uncertain significance rs146968463 GRCh38 Chromosome 14, 67775076: 67775076
24 ZFYVE26 NM_015346.3(ZFYVE26): c.7195C> T (p.Gln2399Ter) single nucleotide variant Likely pathogenic rs869312914 GRCh37 Chromosome 14, 68219237: 68219237
25 ZFYVE26 NM_015346.3(ZFYVE26): c.7195C> T (p.Gln2399Ter) single nucleotide variant Likely pathogenic rs869312914 GRCh38 Chromosome 14, 67752520: 67752520
26 ZFYVE26 NM_015346.3(ZFYVE26): c.6744_6746delGAA (p.Lys2248del) deletion Uncertain significance rs764479245 GRCh37 Chromosome 14, 68222705: 68222707
27 ZFYVE26 NM_015346.3(ZFYVE26): c.6744_6746delGAA (p.Lys2248del) deletion Uncertain significance rs764479245 GRCh38 Chromosome 14, 67755988: 67755990
28 ZFYVE26 NM_015346.3(ZFYVE26): c.2254C> T (p.Gln752Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057518016 GRCh37 Chromosome 14, 68264467: 68264467
29 ZFYVE26 NM_015346.3(ZFYVE26): c.2254C> T (p.Gln752Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057518016 GRCh38 Chromosome 14, 67797750: 67797750
30 ZFYVE26 NM_015346.3(ZFYVE26): c.4854C> T (p.Leu1618=) single nucleotide variant Benign/Likely benign rs151287975 GRCh37 Chromosome 14, 68244396: 68244396
31 ZFYVE26 NM_015346.3(ZFYVE26): c.4854C> T (p.Leu1618=) single nucleotide variant Benign/Likely benign rs151287975 GRCh38 Chromosome 14, 67777679: 67777679
32 ZFYVE26 NM_015346.3(ZFYVE26): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs138664542 GRCh38 Chromosome 14, 67813993: 67813993
33 ZFYVE26 NM_015346.3(ZFYVE26): c.266G> A (p.Arg89Gln) single nucleotide variant Uncertain significance rs138664542 GRCh37 Chromosome 14, 68280710: 68280710
34 ZFYVE26 NM_015346.3(ZFYVE26): c.2450delT (p.Leu817Cysfs) deletion Pathogenic/Likely pathogenic rs768176054 GRCh38 Chromosome 14, 67793711: 67793711
35 ZFYVE26 NM_015346.3(ZFYVE26): c.2450delT (p.Leu817Cysfs) deletion Pathogenic/Likely pathogenic rs768176054 GRCh37 Chromosome 14, 68260428: 68260428
36 ZFYVE26 NM_015346.3(ZFYVE26): c.4132C> T (p.Arg1378Ter) single nucleotide variant Pathogenic rs774809466 GRCh37 Chromosome 14, 68249737: 68249737
37 ZFYVE26 NM_015346.3(ZFYVE26): c.4132C> T (p.Arg1378Ter) single nucleotide variant Pathogenic rs774809466 GRCh38 Chromosome 14, 67783020: 67783020
38 ZFYVE26 NM_015346.3(ZFYVE26): c.6419G> A (p.Arg2140Gln) single nucleotide variant Uncertain significance rs373855798 GRCh37 Chromosome 14, 68228252: 68228252
39 ZFYVE26 NM_015346.3(ZFYVE26): c.6419G> A (p.Arg2140Gln) single nucleotide variant Uncertain significance rs373855798 GRCh38 Chromosome 14, 67761535: 67761535
40 ZFYVE26 NM_015346.3(ZFYVE26): c.2222delA (p.Lys741Argfs) deletion Likely pathogenic rs1555399288 GRCh37 Chromosome 14, 68264757: 68264757
41 ZFYVE26 NM_015346.3(ZFYVE26): c.2222delA (p.Lys741Argfs) deletion Likely pathogenic rs1555399288 GRCh38 Chromosome 14, 67798040: 67798040
42 ZFYVE26 NM_015346.3(ZFYVE26): c.2554-1G> C single nucleotide variant Likely pathogenic rs760559263 GRCh37 Chromosome 14, 68257491: 68257491
43 ZFYVE26 NM_015346.3(ZFYVE26): c.2554-1G> C single nucleotide variant Likely pathogenic rs760559263 GRCh38 Chromosome 14, 67790774: 67790774
44 ZFYVE26 NM_015346.3(ZFYVE26): c.4402G> A (p.Val1468Met) single nucleotide variant Uncertain significance rs148925506 GRCh38 Chromosome 14, 67781500: 67781500
45 ZFYVE26 NM_015346.3(ZFYVE26): c.4402G> A (p.Val1468Met) single nucleotide variant Uncertain significance rs148925506 GRCh37 Chromosome 14, 68248217: 68248217
46 ZFYVE26 NM_015346.3(ZFYVE26): c.2196_2198del (p.Val733del) deletion Likely pathogenic rs1555399289 GRCh37 Chromosome 14, 68264781: 68264783
47 ZFYVE26 NM_015346.3(ZFYVE26): c.2196_2198del (p.Val733del) deletion Likely pathogenic rs1555399289 GRCh38 Chromosome 14, 67798064: 67798066
48 ZFYVE26 NM_015346.3(ZFYVE26): c.7434_7435delAT (p.Ile2478Metfs) deletion Uncertain significance rs1555392785 GRCh37 Chromosome 14, 68215337: 68215339
49 ZFYVE26 NM_015346.3(ZFYVE26): c.7434_7435delAT (p.Ile2478Metfs) deletion Uncertain significance rs1555392785 GRCh38 Chromosome 14, 67748621: 67748622
50 ZFYVE26 NM_015346.3(ZFYVE26): c.7416+2T> C single nucleotide variant Likely pathogenic rs1555393005 GRCh37 Chromosome 14, 68217767: 68217767

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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