SPG33
MCID: SPS113
MIFTS: 31

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 57 74 29 13 6 72
Spg33 57 12 74
Hereditary Spastic Paraplegia 33 12 15
Paraplegia, Spastic, Type 33, Autosomal Dominant 40
Autosomal Dominant Spastic Paraplegia 33 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset of gait abnormalities


HPO:

32
spastic paraplegia 33, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110784
MeSH 44 D015419
MedGen 42 C1853251
UMLS 72 C1853251

Summaries for Spastic Paraplegia 33, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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). 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 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 33, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 paraplegia 28.0 ZFYVE27 SPAST RTN2 REEP1 AP5Z1
2 hereditary spastic paraplegia 27.2 ZFYVE27 SPAST RTN2 REEP1 AP5Z1 ALDH18A1
3 spastic paraplegia 44, autosomal recessive 10.1 ZFYVE27 AP5Z1
4 spastic paraplegia 18, autosomal recessive 9.9 REEP1 AP5Z1
5 spastic paraplegia 47, autosomal recessive 9.9 REEP1 AP5Z1
6 spastic paraplegia 39, autosomal recessive 9.9 REEP1 AP5Z1
7 spastic paraplegia 30, autosomal recessive 9.8 REEP1 AP5Z1
8 spastic paraplegia 13, autosomal dominant 9.8 SPAST AP5Z1
9 spastic paraplegia 42, autosomal dominant 9.8 REEP1 AP5Z1
10 hereditary spastic paraplegia 51 9.8 RTN2 AP5Z1
11 spastic paraplegia 52, autosomal recessive 9.7 RTN2 AP5Z1
12 spastic paraplegia 50, autosomal recessive 9.7 RTN2 AP5Z1
13 spastic paraplegia 54, autosomal recessive 9.7 RTN2 AP5Z1
14 spastic paraplegia 28, autosomal recessive 9.6 RTN2 AP5Z1
15 spastic paraplegia 8, autosomal dominant 9.6 REEP1 AP5Z1
16 spastic paraparesis 9.5 SPAST ALDH18A1
17 spastic paraplegia 56, autosomal recessive 9.5 RTN2 AP5Z1
18 spastic paraplegia 6, autosomal dominant 9.5 SPAST REEP1 AP5Z1
19 masa syndrome 9.5 SPAST REEP1 AP5Z1
20 spastic paraplegia 61, autosomal recessive 9.3 SPAST RTN2 REEP1
21 spastic paraplegia 4, autosomal dominant 8.9 ZFYVE27 SPAST RTN2 REEP1
22 spastic paraplegia 3, autosomal dominant 8.9 ZFYVE27 SPAST RTN2 REEP1
23 spastic paraplegia 2, x-linked 8.8 ZFYVE27 RTN2 REEP1 AP5Z1
24 spastic paraplegia 10, autosomal dominant 8.8 ZFYVE27 RTN2 REEP1 AP5Z1
25 spastic paraplegia 31, autosomal dominant 8.4 ZFYVE27 SPAST RTN2 REEP1 AP5Z1
26 spastic paraplegia 12, autosomal dominant 8.4 ZFYVE27 SPAST RTN2 REEP1 AP5Z1

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 babinski sign 32 HP:0003487
2 talipes equinovarus 32 HP:0001762
3 spastic paraplegia 32 HP:0001258
4 lower limb muscle weakness 32 HP:0007340
5 lower limb spasticity 32 HP:0002061
6 ankle clonus 32 HP:0011448
7 spastic gait 32 HP:0002064

Symptoms via clinical synopsis from OMIM:

57
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

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. 38 8 71
16826525 2006
2
The role of ZFYVE27/protrudin in hereditary spastic paraplegia. 8 71
18606302 2008
3
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 71
24668814 2014
4
Hereditary Spastic Paraplegia Overview 71
20301682 2000
5
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 38
29980238 2018
6
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. 38
23969831 2013
7
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
8
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 38
18394049 2008
9
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? 38
18413476 2008
10
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 38
18364116 2008

Variations for Spastic Paraplegia 33, Autosomal Dominant

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

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

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

74
# 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

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 endoplasmic reticulum GO:0005783 9.46 ZFYVE27 SPAST RTN2 REEP1
2 integral component of endoplasmic reticulum membrane GO:0030176 9.26 ZFYVE27 RTN2
3 endoplasmic reticulum membrane GO:0005789 9.26 ZFYVE27 SPAST RTN2 REEP1
4 endoplasmic reticulum tubular network GO:0071782 8.62 ZFYVE27 REEP1

Biological processes related to Spastic Paraplegia 33, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.62 SPAST ALDH18A1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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