Spastic Ataxia 1, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPAX1 MCID: SPS072 MIFTS: 27	Spastic Ataxia 1, Autosomal Dominant (SPAX1) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spastic Ataxia 1, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 1, Autosomal Dominant:

Name: Spastic Ataxia 1, Autosomal Dominant ⁵⁷ ⁷³ ¹³

Ataxia, Spastic, 1, Autosomal Dominant ²⁹ ⁶ ⁷¹

Spax1 ⁵⁷ ⁵⁸ ⁷³

Ataxia, Spastic, Type 1, Autosomal Dominant ³⁹

Autosomal Dominant Spastic Ataxia Type 1 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal dominant spastic ataxia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset between 10 and 20 years of age
prevalent in newfoundland

HPO:

³¹

spastic ataxia 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM® ⁵⁷ 108600

OMIM Phenotypic Series ⁵⁷ PS108600

MeSH ⁴⁴ D002524

ICD10 via Orphanet ³³ G11.4

UMLS via Orphanet ⁷² C1970107

Orphanet ⁵⁸ ORPHA251282

MedGen ⁴¹ C1970107

UMLS ⁷¹ C1970107

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Summaries for Spastic Ataxia 1, Autosomal Dominant

OMIM® : ⁵⁷ Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012). (108600) (Updated 05-Mar-2021)

MalaCards based summary : Spastic Ataxia 1, Autosomal Dominant, also known as ataxia, spastic, 1, autosomal dominant, is related to spastic ataxia 2, autosomal recessive and spastic ataxia 5, autosomal recessive, and has symptoms including memory loss and cerebellar ataxia. An important gene associated with Spastic Ataxia 1, Autosomal Dominant is VAMP1 (Vesicle Associated Membrane Protein 1). Affiliated tissues include eye, and related phenotypes are hyperreflexia and supranuclear gaze palsy

UniProtKB/Swiss-Prot : ⁷³ Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance.

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Related Diseases for Spastic Ataxia 1, Autosomal Dominant

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant	Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive	Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive	Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 9, Autosomal Recessive	Spastic Ataxia 1
Spastic Ataxia 2	Spastic Ataxia 3
Spastic Ataxia 4	Spastic Ataxia 5
Spastic Ataxia 7	Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia	Autosomal Recessive Spastic Ataxia

Diseases related to Spastic Ataxia 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spastic ataxia 2, autosomal recessive	10.9
2	spastic ataxia 5, autosomal recessive	10.9
3	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	10.9
4	autosomal dominant cerebellar ataxia	10.9
5	spastic ataxia 1	9.6	VAMP1 SAX1
6	spastic ataxia	9.6	VAMP1 SAX1
7	myasthenic syndrome, congenital, 25, presynaptic	9.6	VAMP1 TAPBPL
8	congenital myasthenic syndrome	9.5	VAMP1 TAPBPL

Graphical network of the top 20 diseases related to Spastic Ataxia 1, Autosomal Dominant:

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Symptoms & Phenotypes for Spastic Ataxia 1, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hyperreflexia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001347
2	supranuclear gaze palsy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000605
3	dysphagia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002015
4	memory impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002354
5	spastic paraplegia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001258
6	babinski sign ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003487
7	difficulty walking ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002355
8	spastic gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002064
9	spastic ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002497
10	limb ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002070
11	spastic dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002464
12	slow saccadic eye movements ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000514
13	leg muscle stiffness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008969
14	jerky head movements ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006961
15	ptosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000508
16	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
17	dystonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001332
18	pes cavus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001761
19	impaired proprioception ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010831
20	impaired vibration sensation in the lower limbs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002166
21	abnormal eyelid morphology ³¹	occasional (7.5%)		HP:0000492
22	seizures ⁵⁸		Excluded (0%)
23	dysarthria ³¹			HP:0001260
24	gait disturbance ³¹			HP:0001288
25	hypertonia ⁵⁸		Very frequent (99-80%)
26	abnormality of the eyelid ⁵⁸		Occasional (29-5%)
27	lower limb spasticity ⁵⁸		Very frequent (99-80%)
28	generalized amyotrophy ⁵⁸		Excluded (0%)
29	abnormality of the cerebrospinal fluid ⁵⁸		Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dystonia
spastic paraplegia
spastic ataxia
more

Abdomen Gastrointestinal:
dysphagia

Skeletal Feet:
pes cavus muscle : leg muscle stiffness

Head And Neck Eyes:
ptosis
supranuclear gaze palsy
ocular movement abnormalities
slow saccades

Head And Neck Head:
head jerks

Neurologic Peripheral Nervous System:
decreased vibration sense in the lower limbs (in some patients)

Clinical features from OMIM®:

108600 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:

memory loss, cerebellar ataxia

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Drugs & Therapeutics for Spastic Ataxia 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 1, Autosomal Dominant

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Genetic Tests for Spastic Ataxia 1, Autosomal Dominant

Genetic tests related to Spastic Ataxia 1, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Ataxia, Spastic, 1, Autosomal Dominant ²⁹	VAMP1

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Anatomical Context for Spastic Ataxia 1, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 1, Autosomal Dominant:

⁴⁰

Eye

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Publications for Spastic Ataxia 1, Autosomal Dominant

Articles related to Spastic Ataxia 1, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. ⁵⁷ ⁶	Bourassa CV...Rouleau GA	22958904	2012
2	A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. ⁵⁷ ⁶	Meijer IA...Rouleau GA	11774073	2002
3	A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. ⁵⁷	Grewal KK...Ives EJ	15523628	2004
4	HEREDITARY SPASTIC ATAXIA SIMULATING DISSEMINATED SCLEROSIS. ⁵⁷	MAHLOUDJI M	14083222	1963

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Genes for Spastic Ataxia 1, Autosomal Dominant

Genes related to Spastic Ataxia 1, Autosomal Dominant (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	957.75	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)
2	TAPBPL	TAP Binding Protein Like	Protein Coding	400	Pathogenic ⁶	22958904 11774073
3	SAX1	Spastic Ataxia 1 (Autosomal Dominant)	Genetic Locus	8.75	GeneCards inferred via : Gene name (show sections)

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Variations for Spastic Ataxia 1, Autosomal Dominant

ClinVar genetic disease variations for Spastic Ataxia 1, Autosomal Dominant:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TAPBPL	NM_199245.3(VAMP1):c.342T>G (p.Ser114Arg)	SNV	Pathogenic	240888	rs878854975	12:6574054-6574054	12:6464888-6464888

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Expression for Spastic Ataxia 1, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Ataxia 1, Autosomal Dominant.

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Pathways for Spastic Ataxia 1, Autosomal Dominant

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GO Terms for Spastic Ataxia 1, Autosomal Dominant

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Sources for Spastic Ataxia 1, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Ataxia 1, Autosomal Dominant (SPAX1)

Aliases & Classifications for Spastic Ataxia 1, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 1, Autosomal Dominant:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spastic Ataxia 1, Autosomal Dominant

Related Diseases for Spastic Ataxia 1, Autosomal Dominant

Diseases in the Spastic Ataxia family:

Diseases related to Spastic Ataxia 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Spastic Ataxia 1, Autosomal Dominant:

Symptoms & Phenotypes for Spastic Ataxia 1, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:

Drugs & Therapeutics for Spastic Ataxia 1, Autosomal Dominant

Genetic Tests for Spastic Ataxia 1, Autosomal Dominant

Genetic tests related to Spastic Ataxia 1, Autosomal Dominant:

Anatomical Context for Spastic Ataxia 1, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 1, Autosomal Dominant:

Publications for Spastic Ataxia 1, Autosomal Dominant

Articles related to Spastic Ataxia 1, Autosomal Dominant:

Genes for Spastic Ataxia 1, Autosomal Dominant

Genes related to Spastic Ataxia 1, Autosomal Dominant (2 elite genes):

Variations for Spastic Ataxia 1, Autosomal Dominant

ClinVar genetic disease variations for Spastic Ataxia 1, Autosomal Dominant:

Expression for Spastic Ataxia 1, Autosomal Dominant

Pathways for Spastic Ataxia 1, Autosomal Dominant

GO Terms for Spastic Ataxia 1, Autosomal Dominant

Sources for Spastic Ataxia 1, Autosomal Dominant