SPG33
MCID: SPS113
MIFTS: 35

Spastic Paraplegia 33, Autosomal Dominant (SPG33)

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

Aliases & Classifications for Spastic Paraplegia 33, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 33, Autosomal Dominant:

Name: Spastic Paraplegia 33, Autosomal Dominant 56 73 29 13 6 71
Spg33 56 12 73
Hereditary Spastic Paraplegia 33 12 15
Paraplegia, Spastic, Type 33, Autosomal Dominant 39
Autosomal Dominant Spastic Paraplegia 33 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
adult onset of gait abnormalities


HPO:

31
spastic paraplegia 33, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110784
OMIM 56 610244
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
MedGen 41 C1853251
UMLS 71 C1853251

Summaries for Spastic Paraplegia 33, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 33, autosomal dominant: 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.

MalaCards based summary : Spastic Paraplegia 33, Autosomal Dominant, also known as spg33, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 33, Autosomal Dominant is ZFYVE27 (Zinc Finger FYVE-Type Containing 27), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, eye and bone, and related phenotypes are babinski sign and talipes equinovarus

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24.

More information from OMIM: 610244 PS303350

Related Diseases for Spastic Paraplegia 33, Autosomal Dominant

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 23 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 33, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.2 ZFYVE27 WASHC5 SPG21 SPAST SPART SLC33A1
2 hereditary spastic paraplegia 26.2 ZFYVE27 WASHC5 SPG21 SPAST SPART SLC33A1
3 spinal cord neuroblastoma 10.2 ZFYVE27 REEP1
4 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
5 neuropathy, hereditary sensory, type id 10.1 KIF5A ATL1
6 autosomal dominant non-syndromic intellectual disability 9 10.0 REEP1 KIF5A
7 spastic paraplegia 5a, autosomal recessive 10.0 SPAST KIF5A
8 spastic paraplegia 53, autosomal recessive 10.0 SLC33A1 ATL1
9 spastic paraplegia 41, autosomal dominant 10.0 SPG21 SPAST
10 spastic paraplegia 50, autosomal recessive 9.9 WASHC5 NIPA1
11 neuropathy, hereditary sensory, type iic 9.9 SPG21 REEP1
12 spasticity 9.9 WASHC5 SPAST REEP1
13 spastic paraplegia 57, autosomal recessive 9.9 REEP1 KIF5A
14 spastic paraplegia 43, autosomal recessive 9.9 ZFYVE27 SPAST SLC33A1
15 spastic paraplegia 54, autosomal recessive 9.9 SPG21 REEP1
16 amyotrophic lateral sclerosis type 5 9.9 SPAST KIF5A
17 spastic paraplegia 27, autosomal recessive 9.8 SPG21 SLC33A1
18 spastic paraplegia 32, autosomal recessive 9.8 SPG21 SLC33A1
19 spastic paraplegia 47, autosomal recessive 9.7 WASHC5 SPG21 REEP1
20 spastic paraplegia 35, autosomal recessive 9.7 WASHC5 SPG21 REEP1
21 spastic paraplegia 34, x-linked 9.6 WASHC5 SPG21 SLC33A1
22 spastic paraplegia 29, autosomal dominant 9.6 WASHC5 SPG21 SLC33A1
23 spastic paraplegia 37, autosomal dominant 9.6 WASHC5 SPG21 SLC33A1
24 spastic paraplegia 25, autosomal recessive 9.6 WASHC5 SPG21 SLC33A1
25 spastic paraplegia 19, autosomal dominant 9.6 WASHC5 SPG21 SLC33A1
26 pure hereditary spastic paraplegia 9.5 SPAST NIPA1 KIF5A ATL1
27 spastic paraplegia 61, autosomal recessive 9.5 SPG21 SPAST REEP1 ATL1
28 pseudobulbar palsy 9.5 SPART KIF5A
29 mast syndrome 9.4 ZFYVE27 SPG21 SPART
30 spastic paraplegia 44, autosomal recessive 9.4 ZFYVE27 WASHC5 SPG21 SLC33A1
31 spastic paraplegia 16, x-linked 9.4 WASHC5 SPG21 SPAST SLC33A1
32 spastic paraplegia 14, autosomal recessive 9.4 WASHC5 SPG21 SPAST SLC33A1
33 spastic paraplegia 48, autosomal recessive 9.2 WASHC5 SPG21 SPAST REEP1 ATL1
34 charcot-marie-tooth disease 9.2 SPAST REEP1 KIF5A ATL1
35 hereditary spastic paraplegia 72 9.2 SPG21 SPAST REEP1 NIPA1 ATL1
36 charcot-marie-tooth disease, axonal, type 2e 9.1 SPG21 SPAST KIF5A
37 spastic paraplegia 18, autosomal recessive 9.0 WASHC5 SPG21 REEP1 NIPA1 KIF5A
38 hereditary spastic paraplegia 23 9.0 WASHC5 SPG21 SPART SLC33A1
39 spastic paraplegia 3, autosomal dominant 9.0 WASHC5 SPAST REEP1 NIPA1 KIF5A ATL1
40 spastic paraplegia 13, autosomal dominant 8.9 SPAST SLC33A1 REEP1 NIPA1 KIF5A ATL1
41 spastic paraplegia 20, autosomal recessive 8.9 SPG21 SPAST SPART NIPA1 ATL1
42 spastic paraplegia 39, autosomal recessive 8.8 WASHC5 SPG21 SPAST SPART SLC33A1
43 spastic paraplegia 2, x-linked 8.6 ZFYVE27 WASHC5 SPG21 SPAST REEP1 KIF5A
44 spastic paraplegia 30, autosomal recessive 8.5 WASHC5 SPG21 SPAST REEP1 NIPA1 KIF5A
45 spastic paraplegia 26, autosomal recessive 8.5 WASHC5 SPG21 SPAST SPART SLC33A1 REEP1
46 spastic paraplegia 31, autosomal dominant 8.3 ZFYVE27 WASHC5 SPG21 SPAST REEP1 NIPA1
47 spastic paraplegia 12, autosomal dominant 8.2 ZFYVE27 WASHC5 SPG21 SPAST SLC33A1 REEP1
48 spastic paraplegia 17, autosomal dominant 7.9 WASHC5 SPG21 SPAST SPART REEP1 NIPA1
49 spastic paraplegia 42, autosomal dominant 7.7 ZFYVE27 WASHC5 SPAST SPART SLC33A1 REEP1
50 spastic paraplegia 10, autosomal dominant 7.7 ZFYVE27 WASHC5 SPG21 SPAST SPART REEP1

Graphical network of the top 20 diseases related to Spastic Paraplegia 33, Autosomal Dominant:



Diseases related to Spastic Paraplegia 33, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 33, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 33, Autosomal Dominant:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 babinski sign 31 HP:0003487
2 talipes equinovarus 31 HP:0001762
3 spastic paraplegia 31 HP:0001258
4 lower limb muscle weakness 31 HP:0007340
5 lower limb spasticity 31 HP:0002061
6 ankle clonus 31 HP:0011448
7 spastic gait 31 HP:0002064

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
ankle clonus
spastic gait
extensor plantar responses
more
Skeletal Feet:
pes equinus

Clinical features from OMIM:

610244

Drugs & Therapeutics for Spastic Paraplegia 33, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 33, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 33, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 33, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 33, Autosomal Dominant 29 ZFYVE27

Anatomical Context for Spastic Paraplegia 33, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 33, Autosomal Dominant:

40
Spinal Cord, Eye, Bone, Skin

Publications for Spastic Paraplegia 33, Autosomal Dominant

Articles related to Spastic Paraplegia 33, Autosomal Dominant:

# Title Authors PMID Year
1
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. 61 56 6
16826525 2006
2
The role of ZFYVE27/protrudin in hereditary spastic paraplegia. 56 6
18606302 2008
3
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 6
24668814 2014
4
Hereditary Spastic Paraplegia Overview 6
20301682 2000
5
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 61
29980238 2018
6
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. 61
23969831 2013
7
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
8
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 61
18394049 2008
9
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 61
18413476 2008
10
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008

Variations for Spastic Paraplegia 33, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 33, Autosomal Dominant:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZFYVE27 NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val)SNV Conflicting interpretations of pathogenicity 1289 rs35077384 10:99509251-99509251 10:97749494-97749494
2 ZFYVE27 NM_144588.7(ZFYVE27):c.62C>T (p.Ala21Val)SNV Benign/Likely benign 220394 rs140812293 10:99498296-99498296 10:97738539-97738539

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 33, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 ZFYVE27 p.Gly191Val VAR_027269 rs35077384

Expression for Spastic Paraplegia 33, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 33, Autosomal Dominant.

Pathways for Spastic Paraplegia 33, Autosomal Dominant

Pathways related to Spastic Paraplegia 33, Autosomal Dominant 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 33, Autosomal Dominant

Cellular components related to Spastic Paraplegia 33, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.56 ZFYVE27 WASHC5 SPG21 SPAST
2 endoplasmic reticulum membrane GO:0005789 9.55 ZFYVE27 SPAST SLC33A1 REEP1 ATL1
3 endoplasmic reticulum GO:0005783 9.43 ZFYVE27 WASHC5 SPAST SLC33A1 REEP1 ATL1
4 axon cytoplasm GO:1904115 9.32 SPAST KIF5A
5 endoplasmic reticulum tubular network GO:0071782 8.8 ZFYVE27 REEP1 ATL1

Molecular functions related to Spastic Paraplegia 33, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 SPAST REEP1 KIF5A

Sources for Spastic Paraplegia 33, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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