Spastic Ataxia 7, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Ataxia 7, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 7, Autosomal Dominant:

Name: Spastic Ataxia 7, Autosomal Dominant ⁵⁷

Spastic Ataxia with Congenital Miosis ⁵⁷ ⁵⁹

Spax7 ⁵⁷ ⁵⁹

Autosomal Dominant Spastic Ataxia Type 7 ⁵⁹

Miosis, Congenital, with Spastic Ataxia ⁵⁷

Ataxia, Spastic, with Congenital Miosis ⁷²

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (range childhood to adult)

HPO:

³²

spastic ataxia 7, autosomal dominant:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Genetic 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

Rare eye diseases

External Ids:

OMIM ⁵⁷ 108650 PS108600

ICD10 via Orphanet ³⁴ G11.4

UMLS via Orphanet ⁷³ C1862441

Orphanet ⁵⁹ ORPHA1182

MedGen ⁴² C1862441

UMLS ⁷² C1862441

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Summaries for Spastic Ataxia 7, Autosomal Dominant

MalaCards based summary : Spastic Ataxia 7, Autosomal Dominant, also known as spastic ataxia with congenital miosis, is related to ataxia and polyneuropathy, adult-onset and spastic ataxia, and has symptoms including ataxia, gait ataxia and dysdiadochokinesis. Affiliated tissues include eye, and related phenotypes are dysarthria and congenital miosis

More information from OMIM: 108650 PS108600

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Related Diseases for Spastic Ataxia 7, 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 7, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	ataxia and polyneuropathy, adult-onset	10.2
2	spastic ataxia	10.2

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Symptoms & Phenotypes for Spastic Ataxia 7, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 7, Autosomal Dominant:

⁵⁹ ³² (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001260
2	congenital miosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007728
3	nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000639
4	hyperreflexia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001347
5	hemiplegia/hemiparesis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004374
6	spastic ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002497
7	seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001250
8	optic atrophy ³²	occasional (7.5%)		HP:0000648
9	ataxia ⁵⁹		Very frequent (99-80%)
10	babinski sign ³²			HP:0003487
11	dysdiadochokinesis ³²			HP:0002075
12	abnormal conjugate eye movement ³²			HP:0000549

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
dysdiadochokinesis
ataxia, truncal
delayed independent walking
ataxia, gait
dysarthria, mild
more

Head And Neck Eyes:
miosis
lack of pupillary dilation in the dark
optic atrophy (in some patients)
nystagmus (in some patients)

Clinical features from OMIM:

108650

UMLS symptoms related to Spastic Ataxia 7, Autosomal Dominant:

ataxia, gait ataxia, dysdiadochokinesis, muscle spasticity, ataxia, truncal

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Drugs & Therapeutics for Spastic Ataxia 7, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 7, Autosomal Dominant

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Genetic Tests for Spastic Ataxia 7, Autosomal Dominant

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Anatomical Context for Spastic Ataxia 7, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 7, Autosomal Dominant:

⁴¹

Eye

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Publications for Spastic Ataxia 7, Autosomal Dominant

Articles related to Spastic Ataxia 7, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Hereditary spastic ataxia with congenital miosis: four cases in one family. ³⁸ ⁸	Dick DJ...Cleland PG	6821680	1983
2	Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases. ⁸	Timby N...Erikson A	17584505	2008

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Genes for Spastic Ataxia 7, Autosomal Dominant

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Variations for Spastic Ataxia 7, Autosomal Dominant

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Expression for Spastic Ataxia 7, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Ataxia 7, Autosomal Dominant.

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Pathways for Spastic Ataxia 7, Autosomal Dominant

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GO Terms for Spastic Ataxia 7, Autosomal Dominant

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⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Spastic Ataxia 7, Autosomal Dominant (SPAX7)

Aliases & Classifications for Spastic Ataxia 7, Autosomal Dominant

MalaCards integrated aliases for Spastic Ataxia 7, Autosomal Dominant:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Ataxia 7, Autosomal Dominant

Related Diseases for Spastic Ataxia 7, Autosomal Dominant

Diseases in the Spastic Ataxia family:

Diseases related to Spastic Ataxia 7, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spastic Ataxia 7, Autosomal Dominant

Human phenotypes related to Spastic Ataxia 7, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Ataxia 7, Autosomal Dominant:

Drugs & Therapeutics for Spastic Ataxia 7, Autosomal Dominant

Genetic Tests for Spastic Ataxia 7, Autosomal Dominant

Anatomical Context for Spastic Ataxia 7, Autosomal Dominant

MalaCards organs/tissues related to Spastic Ataxia 7, Autosomal Dominant:

Publications for Spastic Ataxia 7, Autosomal Dominant

Articles related to Spastic Ataxia 7, Autosomal Dominant:

Genes for Spastic Ataxia 7, Autosomal Dominant

Variations for Spastic Ataxia 7, Autosomal Dominant

Expression for Spastic Ataxia 7, Autosomal Dominant

Pathways for Spastic Ataxia 7, Autosomal Dominant

GO Terms for Spastic Ataxia 7, Autosomal Dominant

Sources for Spastic Ataxia 7, Autosomal Dominant