Dysarthria - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Dysarthria	go back to main search page
Accession:	DOID:9001722	browse the term
Definition:	Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Synonyms:	exact_synonym:	Dysarthoses; Dysarthosis; Dysarthrias; Flaccid Dysarthria; Flaccid Dysarthrias; Guttural Dysarthria; Guttural Dysarthrias; Mixed Dysarthria; Mixed Dysarthrias; Scanning Dysarthria; Scanning Dysarthrias; Spastic Dysarthria; Spastic Dysarthrias
	primary_id:	MESH:D004401

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Genes (16)

Dysarthria

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor V

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

G protein subunit alpha L

ClinVar Annotator: match by term: Dysarthria

NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Dysarthria

PMID:25741868 PMID:28492532 PMID:32333447

NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740

G

lysine methyltransferase 2B

ClinVar Annotator: match by term: Dysarthria

PMID:25741868 PMID:27992417 PMID:32581362

NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326

G

NPC intracellular cholesterol transporter 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

phosphodiesterase 8B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209

G

patatin-like phospholipase domain containing 6

ClinVar Annotator: match by term: Dysarthria

PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More...

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

TBC1 domain family, member 24

ClinVar Annotator: match by term: Dysarthria

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050

Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation initiation factor 2 alpha kinase 1

ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome

PMID:25741868 PMID:28492532 PMID:32197074

NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 2

ClinVar Annotator: match by term: Ataxia with Dysarthria

NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537

G

FA complementation group I

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More...

NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640

G

mutS homolog 6

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE

PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More...

NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956

G

DNA polymerase gamma, catalytic subunit

ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)

OMIM
ClinVar
CTD
RGD

PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More...

RGD:8694285, RGD:8694282

NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567

G

prickle planar cell polarity protein 2

ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More...

NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824

G

twinkle mtDNA helicase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More...

NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802

Worster-Drought Syndrome

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Worster-Drought syndrome

NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543

Term paths to the root

Path 1
Term	Annotations
disease	19047
Developmental Disease	14521
Neurodevelopmental Disorders	6942
communication disorder	413
speech disorder	83
articulation disorder	21
Dysarthria	16
Auditory Perceptual Impairment	0
Bahemuka Brown Syndrome	0
Fitzsimmons-Guilbert Syndrome	0
Foix-Chavany-Marie Syndrome	0
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome	1
Worster-Drought Syndrome	1
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	6
Path 2
Term	Annotations
disease	19047
disease of anatomical entity	18381
nervous system disease	14255
central nervous system disease	12587
brain disease	11812
disease of mental health	8412
developmental disorder of mental health	5641
specific developmental disorder	4600
communication disorder	413
language disorder	165
speech disorder	83
articulation disorder	21
Dysarthria	16
Auditory Perceptual Impairment	0
Bahemuka Brown Syndrome	0
Fitzsimmons-Guilbert Syndrome	0
Foix-Chavany-Marie Syndrome	0
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome	1
Worster-Drought Syndrome	1
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	6

paths to the root