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 ⁵⁸

Spax7 ⁵⁷ ⁵⁸

Autosomal Dominant Spastic Ataxia Type 7 ⁵⁸

Miosis, Congenital, with Spastic Ataxia ⁵⁷

Ataxia, Spastic, with Congenital Miosis ⁷¹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

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: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

External Ids:

OMIM® ⁵⁷ 108650

ICD10 via Orphanet ³³ G11.4

UMLS via Orphanet ⁷² C1862441

Orphanet ⁵⁸ ORPHA1182

MedGen ⁴¹ C1862441

SNOMED-CT via HPO ⁶⁸ 128613002 23133003 246545002 more

UMLS ⁷¹ 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 microcoria, congenital and ataxia and polyneuropathy, adult-onset, and has symptoms including ataxia, dysdiadochokinesis and gait ataxia. Affiliated tissues include eye, and related phenotypes are dysarthria and congenital miosis

More information from OMIM: 108650

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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
1	microcoria, congenital	10.2
2	ataxia and polyneuropathy, adult-onset	10.2
3	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:

⁵⁸ ³¹ (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001260
2	congenital miosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007728
3	hyperreflexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001347
4	nystagmus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000639
5	hemiplegia/hemiparesis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004374
6	spastic ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002497
7	optic atrophy ³¹	occasional (7.5%)		HP:0000648
8	seizure ³¹	occasional (7.5%)		HP:0001250
9	seizures ⁵⁸		Occasional (29-5%)
10	ataxia ⁵⁸		Very frequent (99-80%)
11	dysdiadochokinesis ³¹			HP:0002075
12	babinski sign ³¹			HP:0003487
13	abnormal conjugate eye movement ³¹			HP:0000549

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Ataxia 7, Autosomal Dominant:

ataxia, dysdiadochokinesis, gait ataxia, 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:

⁴⁰

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. ⁵⁷ ⁶¹	Dick DJ...Cleland PG	6821680	1983
2	Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases. ⁵⁷	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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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