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: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Eye diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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 ⁷⁵ ¹³

Ataxia, Spastic, 1, Autosomal Dominant ²⁹ ⁶ ⁷³

Spax1 ⁵⁷ ⁵⁹ ⁷⁵

Ataxia, Spastic, Type 1, Autosomal Dominant ⁴⁰

Autosomal Dominant Spastic Ataxia Type 1 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

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

HPO:

³²

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: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 108600

Orphanet ⁵⁹ ORPHA251282

ICD10 via Orphanet ³⁴ G11.4

UMLS via Orphanet ⁷⁴ C1970107

MedGen ⁴² C1970107

MeSH ⁴⁴ D002524

UMLS ⁷³ 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 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 cerebellar ataxia and memory loss. 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 supranuclear gaze palsy and hyperreflexia

UniProtKB/Swiss-Prot : ⁷⁵ 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	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	9.0	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

⁵⁹ ³² (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	supranuclear gaze palsy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000605
2	hyperreflexia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001347
3	slow saccadic eye movements ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000514
4	spastic paraplegia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001258
5	dysphagia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002015
6	spastic gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002064
7	limb ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002070
8	memory impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002354
9	difficulty walking ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002355
10	spastic dysarthria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002464
11	spastic ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002497
12	babinski sign ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003487
13	jerky head movements ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0006961
14	leg muscle stiffness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008969
15	ptosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000508
16	dystonia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001332
17	tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001337
18	pes cavus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001761
19	impaired vibration sensation in the lower limbs ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002166
20	impaired proprioception ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010831
21	hypertonia ⁵⁹		Very frequent (99-80%)
22	lower limb spasticity ⁵⁹		Very frequent (99-80%)
23	abnormality of the eyelid ⁵⁹		Occasional (29-5%)
24	seizures ⁵⁹		Excluded (0%)
25	abnormality of the cerebrospinal fluid ⁵⁹		Excluded (0%)
26	generalized amyotrophy ⁵⁹		Excluded (0%)
27	dysarthria ³²			HP:0001260
28	gait disturbance ³²			HP:0001288
29	abnormal eyelid morphology ³²	occasional (7.5%)		HP:0000492

UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:

cerebellar ataxia, memory loss

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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:

⁴¹

Eye

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Publications for Spastic Ataxia 1, Autosomal Dominant

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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	1368.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)
2	SAX1	Spastic Ataxia 1 (Autosomal Dominant)	Genetic Locus	8.68	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	GRCh38	Chromosome 12, 6464888: 6464888
2	VAMP1	NM_014231.4(VAMP1): c.340+2T> G	single nucleotide variant	Pathogenic	rs878854975	GRCh37	Chromosome 12, 6574054: 6574054

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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

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⁸ Cochrane Library

⁹ Cosmic

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²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

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²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:

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

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