Spastic Paraplegia 33, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110784

OMIM ⁵⁷ 610244 PS303350

MeSH ⁴⁴ D015419

MedGen ⁴² C1853251

UMLS ⁷² C1853251

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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

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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:

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Symptoms & Phenotypes for Spastic Paraplegia 33, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 33, Autosomal Dominant:

³² (show all 7)

#	Description	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

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Drugs & Therapeutics for Spastic Paraplegia 33, Autosomal Dominant

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

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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

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Anatomical Context for Spastic Paraplegia 33, Autosomal Dominant

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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	Mannan AU...Engel W	16826525	2006
2	The role of ZFYVE27/protrudin in hereditary spastic paraplegia. ⁸ ⁷¹	Martignoni M...Rugarli EI	18606302	2008
3	Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. ⁷¹	Hashimoto Y...Nakayama KI	24668814	2014
4	Hereditary Spastic Paraplegia Overview ⁷¹	Hedera P	20301682	2000
5	Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. ³⁸	Dong EL...Lin X	29980238	2018
6	Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. ³⁸	Chang J...Blackstone C	23969831	2013
7	Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. ³⁸	Finsterer J...Stevanin G	22554690	2012
8	Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. ³⁸	Panza E...Seri M	18394049	2008
9	Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? ³⁸	Bakowska JC...Blackstone C	18413476	2008
10	A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. ³⁸	Zhao GH...Tang BS	18364116	2008

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Genes for Spastic Paraplegia 33, Autosomal Dominant

Genes related to Spastic Paraplegia 33, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ZFYVE27	Zinc Finger FYVE-Type Containing 27	Protein Coding	935.88	Molecular basis known ⁵⁷ Causative variation ⁷⁴ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	SPAST	Spastin	Protein Coding	16.49	DISEASES inferred ¹⁵
3	ALDH18A1	Aldehyde Dehydrogenase 18 Family Member A1	Protein Coding	16.46	DISEASES inferred ¹⁵
4	REEP1	Receptor Accessory Protein 1	Protein Coding	16.38	DISEASES inferred ¹⁵
5	RTN2	Reticulon 2	Protein Coding	16.33	DISEASES inferred ¹⁵
6	AP5Z1	Adaptor Related Protein Complex 5 Subunit Zeta 1	Protein Coding	16.16	DISEASES inferred ¹⁵

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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

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Expression for Spastic Paraplegia 33, Autosomal Dominant

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

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Pathways for Spastic Paraplegia 33, Autosomal Dominant

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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

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Sources for Spastic Paraplegia 33, Autosomal Dominant

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²³ GeneHancer via GeneCards

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³⁵ ICD9CM

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

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⁵⁵ Novoseek

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Spastic Paraplegia 33, Autosomal Dominant (SPG33)

Aliases & Classifications for Spastic Paraplegia 33, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 33, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 33, Autosomal Dominant

Related Diseases for Spastic Paraplegia 33, Autosomal Dominant

Diseases in the Spastic Paraplegia 3a family:

Diseases related to Spastic Paraplegia 33, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spastic Paraplegia 33, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 33, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 33, Autosomal Dominant:

Anatomical Context for Spastic Paraplegia 33, Autosomal Dominant

Publications for Spastic Paraplegia 33, Autosomal Dominant

Articles related to Spastic Paraplegia 33, Autosomal Dominant:

Genes for Spastic Paraplegia 33, Autosomal Dominant

Genes related to Spastic Paraplegia 33, Autosomal Dominant (1 elite genes):

Variations for Spastic Paraplegia 33, Autosomal Dominant

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

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

Expression 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:

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

Sources for Spastic Paraplegia 33, Autosomal Dominant