MCID: OCL069
MIFTS: 49

Ocular Motor Apraxia

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ocular Motor Apraxia

MalaCards integrated aliases for Ocular Motor Apraxia:

Name: Ocular Motor Apraxia 58
Coma 58 54 55 44
Oculomotor Apraxia, Congenital, Cogan-Type 58 13
Oculomotor Apraxia, Cogan Type 58 60
Saccade Initiation Failure, Congenital 58
Saccade Initiation Failure Congenital 54
Oculomotor Apraxia, Cogan Type; Coma 58
Ocular Motor Apraxia, Cogan Type 60
Oculomotor Apraxia Cogan Type 54
Congenital Oculomotor Apraxia 54
Cogan's Syndrome Type 2 54
Oculomotor Apraxia 74
Comatose 74

Characteristics:

Orphanet epidemiological data:

60
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
ocular movement dysfunction improves with age


HPO:

33
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 257550
ICD10 34 R40.2
MESH via Orphanet 46 C537423
ICD10 via Orphanet 35 H51.8
UMLS via Orphanet 75 C0543874
Orphanet 60 ORPHA1125
MedGen 43 C0543874
SNOMED-CT via HPO 70 193662007 204958008 258211005

Summaries for Ocular Motor Apraxia

NIH Rare Diseases : 54 Oculomotor apraxia Cogan type (COMA) is an eye condition characterized by a defect in side-to-side (horizontal) eye movements. Because of this, most patients with COMA have to turn their head in order to follow objects in side gaze. Typically, up-to-down (vertical) eye movements are unaffected. Symptoms usually improve throughout the childhood and teenage years. COMA can also be associated with mild developmental delay and speech difficulties. Individuals with COMA may also have kidney disorders and underdevelopment of the part of cerebellum that separates the left and right hemisphere of the brain (cerebellar vermis). When other symptoms occur, COMA may be a symptom of other disorders, such as nephronophthisis or Joubert syndrome. In many instances, the cause of COMA is not known; however, researchers suspect that it is inherited in an autosomal recessive inheritance pattern. Treatment for this condition is focused on managing the signs and symptoms in each individual.

MalaCards based summary : Ocular Motor Apraxia, also known as coma, is related to apraxia and ataxia-telangiectasia, and has symptoms including seizures, tremor and back pain. An important gene associated with Ocular Motor Apraxia is DHX30 (DExH-Box Helicase 30), and among its related pathways/superpathways is DNA Damage. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are nephronophthisis and oculomotor apraxia

OMIM : 58 Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements. Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989). (257550)

MedlinePlus : 44 A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 55 A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.

Wikipedia : 77 Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye... more...

Related Diseases for Ocular Motor Apraxia

Diseases related to Ocular Motor Apraxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 472)
# Related Disease Score Top Affiliating Genes
1 apraxia 30.7 APTX ATM NPHP1
2 ataxia-telangiectasia 29.9 APTX ATM
3 aceruloplasminemia 28.7 APTX ATM
4 hypoglycemic coma 12.6
5 hepatic coma 12.4
6 basedow's coma 12.2
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
8 viral hepatitis 11.7
9 akinetic mutism 11.4
10 persistent vegetative state 11.4
11 hepatic encephalopathy 11.3
12 hemiplegic migraine 11.3
13 familial hemiplegic migraine 11.3
14 lysinuric protein intolerance 11.3
15 wernicke-korsakoff syndrome 11.3
16 japanese encephalitis 11.3
17 ornithine transcarbamylase deficiency, hyperammonemia due to 11.3
18 central pontine myelinolysis 11.3
19 malaria 11.2
20 metabolic acidosis 11.2
21 reye syndrome 11.2
22 hypoxia 11.2
23 insulinoma 11.2
24 hypophosphatemia 11.2
25 urea cycle disorder 11.2
26 brain edema 11.2
27 migraine, familial hemiplegic, 1 11.1
28 eclampsia 11.1
29 cerebral hypoxia 11.1
30 acyl-coa dehydrogenase, medium-chain, deficiency of 11.1
31 citrullinemia, classic 11.1
32 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.1
33 hyperinsulinemic hypoglycemia, familial, 1 11.1
34 adrenoleukodystrophy 11.1
35 migraine, familial hemiplegic, 2 11.1
36 sleeping sickness 11.1
37 st. louis encephalitis 11.1
38 marchiafava bignami disease 11.1
39 creutzfeldt-jakob disease 11.1
40 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.0
41 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
42 citrullinemia, type ii, adult-onset 11.0
43 n-acetylglutamate synthase deficiency 11.0
44 isovaleric acidemia 11.0
45 maple syrup urine disease 11.0
46 3-methylglutaconic aciduria, type i 11.0
47 microvascular complications of diabetes 1 11.0
48 thiamine metabolism dysfunction syndrome 2 11.0
49 encephalopathy, acute, infection-induced 4 11.0
50 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11.0

Comorbidity relations with Ocular Motor Apraxia via Phenotypic Disease Network (PDN): (show all 17)


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Alzheimer Disease
Cardiac Arrest Chronic Kidney Failure
Decubitus Ulcer Deficiency Anemia
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Familial Atrial Fibrillation
Heart Disease Hypertension, Essential
Protein-Energy Malnutrition Respiratory Failure
Schizophreniform Disorder Swallowing Disorders
Ventricular Fibrillation, Paroxysmal Familial, 1

Graphical network of the top 20 diseases related to Ocular Motor Apraxia:



Diseases related to Ocular Motor Apraxia

Symptoms & Phenotypes for Ocular Motor Apraxia

Human phenotypes related to Ocular Motor Apraxia:

33
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 33 HP:0000090
2 oculomotor apraxia 33 HP:0000657
3 jerky head movements 33 HP:0006961
4 horizontal opticokinetic nystagmus 33 HP:0008026

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
jerking head movements

Head And Neck Eyes:
oculomotor apraxia (defective/absent horizontal eye movements)

Neurologic Central Nervous System:
jerking head movements

Clinical features from OMIM:

257550

UMLS symptoms related to Ocular Motor Apraxia:


seizures, tremor, back pain, ophthalmoparesis, pain, headache, lethargy, syncope, excessive daytime somnolence, chronic pain, sciatica, vertigo/dizziness, sleeplessness, central nervous system signs and symptoms, symptoms, clouded consciousness, sluggishness, dizziness, transient alteration of awareness, other alteration of consciousness

Drugs & Therapeutics for Ocular Motor Apraxia

Drugs for Ocular Motor Apraxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3 Nutrients Phase 3
4 Micronutrients Phase 3
5 Vitamins Phase 3
6 Complement System Proteins Phase 3
7 Ubiquinone Phase 3
8 Lecithin Phase 3
9 Trace Elements Phase 3
10 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
4 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013 Not Applicable

Search NIH Clinical Center for Ocular Motor Apraxia

Genetic Tests for Ocular Motor Apraxia

Anatomical Context for Ocular Motor Apraxia

MalaCards organs/tissues related to Ocular Motor Apraxia:

42
Brain, Eye, Liver, Thyroid, Kidney, Cerebellum, Heart

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 3092)
# Title Authors Year
1
Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study. ( 30782493 )
2019
2
Diagnostic Accuracy of Procalcitonin for Early Aspiration Pneumonia in Critically Ill Patients with Coma: A Prospective Study. ( 30267280 )
2019
3
Prehospital Versus Trauma Center Glasgow Coma Scale in Pediatric Traumatic Brain Injury Patients. ( 31022676 )
2019
4
Modified Glasgow Coma Scale using Serum Factors as a Prognostic Model in Traumatic Brain Injury'. ( 30876987 )
2019
5
EEG of patients in coma after traumatic brain injury reflects physical parameters of auditory stimulation but not its emotional content. ( 30521421 )
2019
6
Fulminant thymomatous AMPAR-antibody limbic encephalitis with hypertonic coma, bruxism, an isoelectric electroencephalogram and temporal cortical atrophy, with recovery. ( 30796080 )
2019
7
Sources of interrater variability and prognostic value of standardized EEG features in post-anoxic coma after resuscitated cardiac arrest. ( 30847430 )
2019
8
Mechanical Circulatory Support in Management of Cardiogenic Shock and Myxedema Coma. ( 30956822 )
2019
9
Disturbed Consciousness and Coma: Diagnosis and Management of Intracranial Hypotension Caused by a Spinal Cerebrospinal Fluid Leak. ( 30292664 )
2019
10
Coma with Glasgow Coma Scale Score 3 at Admission following Acute Head Injury: Experiencing the Complete Recovery Supported through Ayurveda - A Case Report. ( 30965329 )
2019
11
Recurrent moderate hypoglycemia exacerbates oxidative damage and neuronal death leading to cognitive dysfunction after the hypoglycemic coma. ( 29047291 )
2019
12
Dynamic prediction of death in patients with tuberculous meningitis using time-updated Glasgow coma score and plasma sodium measurements. ( 30944929 )
2019
13
Critical Consideration of Myxedema Coma in the Postoperative Setting: A Case Report. ( 30169383 )
2019
14
Myxedema coma precipitated by diabetic ketoacidosis after total thyroidectomy: a case report. ( 30827279 )
2019
15
Successful treatment of myxedema coma with a combination of levothyroxine and liothyronine. ( 30853666 )
2019
16
Outcome of Frail Do-Not-Intubate Subjects With End-Stage Chronic Respiratory Failure and Their Opinion of Noninvasive Ventilation to Reverse Hypercapnic Coma. ( 30890633 )
2019
17
Duration of therapeutic coma and outcome of refractory status epilepticus. ( 30957219 )
2019
18
Successful Emergent Endovascular Mechanical Thrombectomy for Pediatric and Young Adult Cerebral Venous Sinus Thrombosis in Coma. ( 30404063 )
2019
19
Myxoedema coma following commencement of anti-TNF therapy and tuberculosis prophylaxis in a patient with RA and latent tuberculosis infection. ( 31085622 )
2019
20
Influence of Gamma-Hydroxybutyric Acid-Use and Gamma-Hydroxybutyric Acid-Induced Coma on Affect and the Affective Network. ( 30999293 )
2019
21
Outcome prediction in disorders of consciousness: the role of coma recovery scale revised. ( 30999877 )
2019
22
Clarifications to «First described case of coma triggered by retrograde venous air embolism: An exceptional but potentially life-threatening situation». ( 31006492 )
2019
23
Stimulus-Induced Rhythmic, Periodic, or Ictal Discharges in Coma Incidence and Interrater Reliability of Continuous EEG After a Standard Stimulation Protocol; Statistical Issue to Avoid Misdiagnosis and Mismanagement. ( 31033652 )
2019
24
Type D personality is a predictor of prolonged acute brain dysfunction (delirium/coma) after cardiovascular surgery. ( 31046844 )
2019
25
Glasgow coma scale explained. ( 31048343 )
2019
26
Functional Coma: Two Case Reports and a Review of the Literature. ( 31053419 )
2019
27
Glasgow Coma Scale: Generating Clinical Standards. ( 31058766 )
2019
28
Trauma patients with prehospital Glasgow Coma Scale less than nine: not a homogenous group. ( 31062034 )
2019
29
Predicting the Non-Survival Outcome of Large Hemispheric Infarction Patients via Quantitative Electroencephalography: Superiority to Visual Electroencephalography and the Glasgow Coma Scale. ( 31077739 )
2019
30
Nociception Coma Scale with personalized painful stimulation versus standard stimulus in non-communicative patients with disorders of consciousness. ( 31088203 )
2019
31
Nociception Coma Scale-Revised: Nurses' Experience in Clinical Practice. ( 31103500 )
2019
32
The COMA complex interacts with Cse4 and positions Sli15/Ipl1 at the budding yeast inner kinetochore. ( 31112132 )
2019
33
Drug Overdose-Induced Coma Blisters: Pathophysiology and Clinical and Forensic Diagnosis. ( 30058500 )
2019
34
A proposal for prospective evaluation of elderly subjects with low Glasgow Coma Scale. ( 30224270 )
2019
35
Late Awakening in Survivors of Postanoxic Coma: Early Neurophysiologic Predictors and Association With ICU and Long-Term Neurologic Recovery. ( 30303838 )
2019
36
The Glasgow Outcome Scale Extended-Revised (GOSE-R) to include Minimally Conscious State in the Vegetative State/Unresponsive Wakefulness Syndrome category: a correlation with Coma Recovery Scale-Revised (CRS-R). ( 30376271 )
2019
37
Prolonged coma resulting from massive levothyroxine overdose and the utility of N-terminal prohormone brain natriuretic peptide (NT-proBNP). ( 30484711 )
2019
38
Postmortem histopathology of electroencephalography and evoked potentials in postanoxic coma. ( 30562596 )
2019
39
Observed versus expected mortality in pediatric patients intubated in the field with Glasgow Coma Scale scores < 9. ( 30631886 )
2019
40
Is circadian rhythmicity a prerequisite to coma recovery? Circadian recovery concomitant to cognitive improvement in two comatose patients. ( 30633817 )
2019
41
Comparison of Glasgow Coma Scale and Full Outline of Unresponsiveness (Four) Score: A Prospective Study. ( 30649827 )
2019
42
Validation of the Chinese version of the Coma Recovery Scale-Revised (CRS-R). ( 30663434 )
2019
43
Good functional outcome following bilateral external capsule hemorrhage mimicking bilateral basal ganglia hemorrhage in a coma patient. ( 30693794 )
2019
44
Multimodal assessment of recovery from coma in a rat model of diffuse brainstem tegmentum injury. ( 30708105 )
2019
45
Acute Hypoxemia and Coma in a Patient With Hemoglobin SC Disease. ( 30732697 )
2019
46
Autonomic impairment of patients in coma with different Glasgow coma score assessed with heart rate variability. ( 30755043 )
2019
47
Pre-hospital anaesthesia and assessment of head injured patients presenting to a UK Helicopter Emergency Medical Service with a high Glasgow Coma Scale: a cohort study. ( 30782878 )
2019
48
Massive eucalyptus oil overdose leading to prolonged coma. ( 30806522 )
2019
49
Coma and seizure caused by an afloqualone overdose. ( 30809878 )
2019
50
Successful treatment of a patient with severe thallium poisoning in a coma using Prussian blue and plasma exchange: A case report. ( 30813198 )
2019

Variations for Ocular Motor Apraxia

ClinVar genetic disease variations for Ocular Motor Apraxia:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 AHI1 NM_017651.4(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 GRCh38 Chromosome 6, 135431282: 135431282
2 AHI1 NM_017651.4(AHI1): c.2299G> T (p.Val767Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs755688765 GRCh37 Chromosome 6, 135752420: 135752420
3 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
4 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh38 Chromosome 11, 108244812: 108244812
5 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
6 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh38 Chromosome 3, 47846550: 47846550
7 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 GRCh37 Chromosome 8, 68102960: 68102960
8 CSPP1 NM_024790.6(CSPP1): c.3281A> G (p.Glu1094Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201629827 GRCh38 Chromosome 8, 67190725: 67190725
9 TGM6 NM_198994.2(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 GRCh38 Chromosome 20, 2394520: 2394520
10 TGM6 NM_198994.2(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 GRCh37 Chromosome 20, 2375166: 2375166
11 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 28474681: 28474681
12 HERC2 NM_004667.5(HERC2): c.5045A> G (p.Asn1682Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 28229535: 28229535
13 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 38943526: 38943526
14 RYR1 NM_000540.2(RYR1): c.1312G> C (p.Glu438Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 38452886: 38452886

Copy number variations for Ocular Motor Apraxia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134868 2 108600000 113800000 Copy number Ocular motor apraxia

Expression for Ocular Motor Apraxia

Search GEO for disease gene expression data for Ocular Motor Apraxia.

Pathways for Ocular Motor Apraxia

Pathways related to Ocular Motor Apraxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 APTX ATM

GO Terms for Ocular Motor Apraxia

Molecular functions related to Ocular Motor Apraxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.96 APTX ATM
2 double-stranded RNA binding GO:0003725 8.62 APTX DHX30

Sources for Ocular Motor Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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