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 ⁵⁸ ⁷⁶

Ataxia, Spastic, 1, Autosomal Dominant ³⁰ ⁶ ⁷⁴

Spax1 ⁵⁸ ⁶⁰ ⁷⁶

Ataxia, Spastic, Type 1, Autosomal Dominant ⁴¹

Autosomal Dominant Spastic Ataxia Type 1 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 108600

MeSH ⁴⁵ D002524

ICD10 via Orphanet ³⁵ G11.4

UMLS via Orphanet ⁷⁵ C1970107

Orphanet ⁶⁰ ORPHA251282

MedGen ⁴³ C1970107

UMLS ⁷⁴ C1970107

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Summaries for Spastic Ataxia 1, Autosomal Dominant

OMIM : ⁵⁸ 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 linkage to chromosome 12p13 (summary by Meijer et al., 2002). (108600)

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 : ⁷⁶ 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 1	Spastic Ataxia 2
Spastic Ataxia 3	Spastic Ataxia 4
Spastic Ataxia 5	Spastic Ataxia 7
Spastic Ataxia 8

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	11.1
2	spastic ataxia 5, autosomal recessive	11.1
3	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	11.1
4	autosomal dominant cerebellar ataxia	11.1
5	spastic ataxia 1	9.5	SAX1 VAMP1

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:

⁶⁰ ³³ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hyperreflexia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001347
2	supranuclear gaze palsy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000605
3	dysphagia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002015
4	limb ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002070
5	babinski sign ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003487
6	memory impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002354
7	difficulty walking ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002355
8	spastic paraplegia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001258
9	spastic gait ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002064
10	leg muscle stiffness ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008969
11	slow saccadic eye movements ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000514
12	spastic dysarthria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002464
13	spastic ataxia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002497
14	jerky head movements ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0006961
15	ptosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000508
16	tremor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001337
17	impaired proprioception ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010831
18	pes cavus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001761
19	dystonia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001332
20	impaired vibration sensation in the lower limbs ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002166
21	abnormal eyelid morphology ³³	occasional (7.5%)		HP:0000492
22	seizures ⁶⁰		Excluded (0%)
23	dysarthria ³³			HP:0001260
24	gait disturbance ³³			HP:0001288
25	hypertonia ⁶⁰		Very frequent (99-80%)
26	abnormality of the eyelid ⁶⁰		Occasional (29-5%)
27	lower limb spasticity ⁶⁰		Very frequent (99-80%)
28	abnormality of the cerebrospinal fluid ⁶⁰		Excluded (0%)
29	generalized amyotrophy ⁶⁰		Excluded (0%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Abdomen Gastrointestinal:
dysphagia

Skeletal Feet:
pes cavus muscle : leg muscle stiffness

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

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

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 ³⁰	VAMP1

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Anatomical Context for Spastic Ataxia 1, Autosomal Dominant

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

⁴²

Eye

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Publications for Spastic Ataxia 1, Autosomal Dominant

Articles related to Spastic Ataxia 1, Autosomal Dominant:

#	Title	Authors	Year
1	VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. ( 22958904 )	Bourassa CV...Rouleau GA	2012
2	A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. ( 11774073 )	Meijer IA...Rouleau GA	2002

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Genes for Spastic Ataxia 1, Autosomal Dominant

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	1368.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders (show sections)
2	SAX1	Spastic Ataxia 1 (Autosomal Dominant)	Genetic Locus	8.61	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	Variation	Type	Significance	SNP ID	Assembly	Location
1	VAMP1	NM_014231.4(VAMP1): c.340+2T> G	single nucleotide variant	Pathogenic	rs878854975	GRCh37	Chromosome 12, 6574054: 6574054
2	VAMP1	NM_014231.4(VAMP1): c.340+2T> G	single nucleotide variant	Pathogenic	rs878854975	GRCh38	Chromosome 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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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 (1 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