SPG33
MCID: SPS113
MIFTS: 32

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, 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 58 76 30 13 6 74
Spg33 58 12 76
Hereditary Spastic Paraplegia 33 12 15
Paraplegia, Spastic, Type 33, Autosomal Dominant 41
Autosomal Dominant Spastic Paraplegia 33 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset of gait abnormalities


HPO:

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


Classifications:



Summaries for Spastic Paraplegia 33, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 610244

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 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 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 28.7 AP5Z1 REEP1 RTN2 SPAST ZFYVE27
2 hereditary spastic paraplegia 28.2 ALDH18A1 AP5Z1 REEP1 RTN2 SPAST ZFYVE27
3 spastic paraplegia 44, autosomal recessive 10.1 AP5Z1 ZFYVE27
4 spastic paraplegia 18, autosomal recessive 10.0 AP5Z1 REEP1
5 spastic paraplegia 47, autosomal recessive 9.9 AP5Z1 REEP1
6 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 REEP1
7 spastic paraplegia 30, autosomal recessive 9.9 AP5Z1 REEP1
8 spastic paraplegia 13, autosomal dominant 9.9 AP5Z1 SPAST
9 spastic paraplegia 42, autosomal dominant 9.9 AP5Z1 REEP1
10 hereditary spastic paraplegia 51 9.8 AP5Z1 RTN2
11 spastic paraplegia 50, autosomal recessive 9.8 AP5Z1 RTN2
12 spastic paraplegia 52, autosomal recessive 9.8 AP5Z1 RTN2
13 spastic paraplegia 28, autosomal recessive 9.8 AP5Z1 RTN2
14 spastic paraplegia 54, autosomal recessive 9.8 AP5Z1 RTN2
15 spastic paraplegia 8, autosomal dominant 9.7 AP5Z1 REEP1
16 spastic paraparesis 9.7 ALDH18A1 SPAST
17 spastic paraplegia 56, autosomal recessive 9.7 AP5Z1 RTN2
18 spastic paraplegia 6, autosomal dominant 9.7 AP5Z1 REEP1 SPAST
19 masa syndrome 9.7 AP5Z1 REEP1 SPAST
20 spastic paraplegia 61, autosomal recessive 9.5 REEP1 RTN2 SPAST
21 spastic paraplegia 2, x-linked 9.3 AP5Z1 REEP1 RTN2 ZFYVE27
22 spastic paraplegia 10, autosomal dominant 9.3 AP5Z1 REEP1 RTN2 ZFYVE27
23 spastic paraplegia 4, autosomal dominant 9.3 REEP1 RTN2 SPAST ZFYVE27
24 spastic paraplegia 3, autosomal dominant 9.3 REEP1 RTN2 SPAST ZFYVE27
25 spastic paraplegia 31, autosomal dominant 9.0 AP5Z1 REEP1 RTN2 SPAST ZFYVE27
26 spastic paraplegia 12, autosomal dominant 9.0 AP5Z1 REEP1 RTN2 SPAST ZFYVE27

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 babinski sign 33 HP:0003487
2 talipes equinovarus 33 HP:0001762
3 spastic paraplegia 33 HP:0001258
4 lower limb muscle weakness 33 HP:0007340
5 lower limb spasticity 33 HP:0002061
6 ankle clonus 33 HP:0011448
7 spastic gait 33 HP:0002064

Symptoms via clinical synopsis from OMIM:

58
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 30 ZFYVE27

Anatomical Context for Spastic Paraplegia 33, Autosomal Dominant

Publications for Spastic Paraplegia 33, Autosomal Dominant

Variations for Spastic Paraplegia 33, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 ZFYVE27 p.Gly191Val VAR_027269 rs35077384

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFYVE27 NM_001002261.3(ZFYVE27): c.62C> T (p.Ala21Val) single nucleotide variant Benign/Likely benign rs140812293 GRCh38 Chromosome 10, 97738539: 97738539
2 ZFYVE27 NM_001002261.3(ZFYVE27): c.62C> T (p.Ala21Val) single nucleotide variant Benign/Likely benign rs140812293 GRCh37 Chromosome 10, 99498296: 99498296
3 ZFYVE27 NM_001002261.3(ZFYVE27): c.572G> T (p.Gly191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35077384 GRCh37 Chromosome 10, 99509251: 99509251
4 ZFYVE27 NM_001002261.3(ZFYVE27): c.572G> T (p.Gly191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35077384 GRCh38 Chromosome 10, 97749494: 97749494

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

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 ALDH18A1 SPAST

Sources for Spastic Paraplegia 33, Autosomal Dominant

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
Content
Loading form....