MCID: SPS025
MIFTS: 23

Spastic Paraplegia 15

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

Aliases & Classifications for Spastic Paraplegia 15

MalaCards integrated aliases for Spastic Paraplegia 15:

Name: Spastic Paraplegia 15 53 29 6
Spastic Paraplegia and Retinal Degeneration 53 25
Kjellin Syndrome 53 25
Spg15 53 25
Recessive Spastic Paraplegia with Retinal Degeneration 53
Spastic Paraplegia 15, Autosomal Recessive 73
Autosomal Recessive Spastic Paraplegia 15 25
Paraplegia, Spastic, Type 15 40
Spastic Paraplegia Type 15 25

Classifications:



External Ids:

UMLS 73 C1849128

Summaries for Spastic Paraplegia 15

Genetics Home Reference : 25 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 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 and spinal cord.

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 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 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 15, autosomal recessive 12.5

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 29 ZFYVE26

Anatomical Context for Spastic Paraplegia 15

MalaCards organs/tissues related to Spastic Paraplegia 15:

41
Brain, Spinal Cord

Publications for Spastic Paraplegia 15

Articles related to Spastic Paraplegia 15:

# 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

ClinVar genetic disease variations for Spastic Paraplegia 15:

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

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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