Spinocerebellar Ataxia 43 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spinocerebellar Ataxia 43

MalaCards integrated aliases for Spinocerebellar Ataxia 43:

Name: Spinocerebellar Ataxia 43 ⁵⁷ ⁷⁵ ²⁹ ⁶

Sca43 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
adult onset (range 42 to 68 years)
one belgian family has been reported (last curated july 2016)

HPO:

³²

spinocerebellar ataxia 43:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617018

MedGen ⁴² C4310763 CN238088

MeSH ⁴⁴ D020754

SNOMED-CT via HPO ⁶⁹ 263681008 246768008 563001 more

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Summaries for Spinocerebellar Ataxia 43

OMIM : ⁵⁷ Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (617018)

MalaCards based summary : Spinocerebellar Ataxia 43, also known as sca43, is related to charcot-marie-tooth disease, axonal, type 2t and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 43 is MME (Membrane Metalloendopeptidase). Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are hypometric saccades and nystagmus

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia 43: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form.

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Related Diseases for Spinocerebellar Ataxia 43

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31	Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34	Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2	Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15	Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4	Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21	Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6	Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25	Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7	Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27	Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9	Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10	Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32	Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11	Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13	Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15	Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37	Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18	Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41	Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42	Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23	Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24	Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26	Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45	Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47	Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22	Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 43 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	charcot-marie-tooth disease, axonal, type 2t	10.9
2	autosomal dominant cerebellar ataxia	9.9
3	neuropathy	9.9

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Symptoms & Phenotypes for Spinocerebellar Ataxia 43

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
dysarthria
tremor
gait ataxia
limb ataxia
cerebellar atrophy
more

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
distal amyotrophy

Chest External Features:
pectus carinatum

Neurologic Peripheral Nervous System:
hyporeflexia
axonal motor neuropathy
distal sensory impairment (in some patients)
distal limb pain

Head And Neck Eyes:
nystagmus (in some patients)
hypometric saccades (in some patients)

Clinical features from OMIM:

617018

Human phenotypes related to Spinocerebellar Ataxia 43:

³² (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	hypometric saccades ³²	occasional (7.5%)	HP:0000571
2	nystagmus ³²	occasional (7.5%)	HP:0000639
3	dysarthria ³²		HP:0001260
4	hyporeflexia ³²		HP:0001265
5	cerebellar atrophy ³²		HP:0001272
6	tremor ³²		HP:0001337
7	pes cavus ³²		HP:0001761
8	rigidity ³²	occasional (7.5%)	HP:0002063
9	gait ataxia ³²		HP:0002066
10	limb ataxia ³²		HP:0002070
11	distal sensory impairment ³²	occasional (7.5%)	HP:0002936
12	distal amyotrophy ³²		HP:0003693

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Drugs & Therapeutics for Spinocerebellar Ataxia 43

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 43

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Genetic Tests for Spinocerebellar Ataxia 43

Genetic tests related to Spinocerebellar Ataxia 43:

#	Genetic test	Affiliating Genes
1	Spinocerebellar Ataxia 43 ²⁹	MME

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Anatomical Context for Spinocerebellar Ataxia 43

MalaCards organs/tissues related to Spinocerebellar Ataxia 43:

⁴¹

Spinal Cord, Cerebellum, Eye

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Publications for Spinocerebellar Ataxia 43

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Genes for Spinocerebellar Ataxia 43

Genes related to Spinocerebellar Ataxia 43 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MME	Membrane Metalloendopeptidase	Protein Coding	1377.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	27583304

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Variations for Spinocerebellar Ataxia 43

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 43:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MME	p.Cys143Tyr	VAR_077685	rs879255651

ClinVar genetic disease variations for Spinocerebellar Ataxia 43:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MME	NM_000902.3(MME): c.428G> A (p.Cys143Tyr)	single nucleotide variant	Pathogenic	rs879255651	GRCh37	Chromosome 3, 154834337: 154834337
2	MME	NM_000902.3(MME): c.428G> A (p.Cys143Tyr)	single nucleotide variant	Pathogenic	rs879255651	GRCh38	Chromosome 3, 155116548: 155116548

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Expression for Spinocerebellar Ataxia 43

Search GEO for disease gene expression data for Spinocerebellar Ataxia 43.

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Pathways for Spinocerebellar Ataxia 43

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GO Terms for Spinocerebellar Ataxia 43

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