COMA
MCID: OCL069
MIFTS: 57

Ocular Motor Apraxia (COMA)

Categories: Eye diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ocular Motor Apraxia

MalaCards integrated aliases for Ocular Motor Apraxia:

Name: Ocular Motor Apraxia 57 6
Coma 57 20 53 42
Oculomotor Apraxia, Congenital, Cogan-Type 57 13
Oculomotor Apraxia, Cogan Type 57 58
Saccade Initiation Failure, Congenital 57
Saccade Initiation Failure Congenital 20
Oculomotor Apraxia, Cogan Type; Coma 57
Ocular Motor Apraxia, Cogan Type 58
Oculomotor Apraxia Cogan Type 20
Congenital Oculomotor Apraxia 20
Cogan's Syndrome Type 2 20
Oculomotor Apraxia 71
Comatose 71

Characteristics:

Orphanet epidemiological data:

58
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
ocular movement dysfunction improves with age


HPO:

31
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 257550
ICD10 32 R40.2
MESH via Orphanet 45 C537423
ICD10 via Orphanet 33 H51.8
UMLS via Orphanet 72 C0543874
Orphanet 58 ORPHA1125
MedGen 41 C0543874
SNOMED-CT via HPO 68 193662007 204958008 258211005
UMLS 71 C0009421 C3489733

Summaries for Ocular Motor Apraxia

GARD : 20 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 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and apraxia, and has symptoms including seizures, tremor and back pain. An important gene associated with Ocular Motor Apraxia is ATM (ATM Serine/Threonine Kinase). The drugs Amoxicillin and Clavulanate have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye, and related phenotypes are nephronophthisis and oculomotor apraxia

OMIM® : 57 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) (Updated 05-Mar-2021)

MedlinePlus : 42 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 : 53 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.

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 842)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.0 ATM APTX
2 apraxia 31.1 NPHP1 ATM APTX
3 ataxia-telangiectasia 30.2 ATM APTX
4 autosomal recessive cerebellar ataxia 30.0 ATM APTX
5 oculomotor apraxia 28.6 NPHP1 HARS1 DHX30 COMA ATM APTX
6 hypoglycemic coma 11.5
7 hepatic coma 11.5
8 ocular motor apraxia, cogan type 11.3
9 joubert syndrome 1 11.2
10 basedow's coma 11.1
11 persistent vegetative state 11.1
12 traumatic brain injury 11.1
13 viral hepatitis 11.1
14 hepatic encephalopathy 11.1
15 n-acetylglutamate synthase deficiency 11.1
16 maple syrup urine disease 11.1
17 creutzfeldt-jakob disease 11.0
18 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.0
19 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
20 familial hemiplegic migraine 11.0
21 ornithine transcarbamylase deficiency, hyperammonemia due to 11.0
22 lysinuric protein intolerance 11.0
23 acyl-coa dehydrogenase, medium-chain, deficiency of 11.0
24 brain edema 11.0
25 propionic acidemia 11.0
26 akinetic mutism 11.0
27 isovaleric acidemia 11.0
28 citrullinemia, type ii, adult-onset 11.0
29 thiamine metabolism dysfunction syndrome 2 11.0
30 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.0
31 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 11.0
32 la crosse encephalitis 11.0
33 wernicke-korsakoff syndrome 10.9
34 japanese encephalitis 10.9
35 central pontine myelinolysis 10.9
36 citrullinemia, classic 10.9
37 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.9
38 cerebral beriberi 10.9
39 carnitine deficiency, systemic primary 10.9
40 acute disseminated encephalomyelitis 10.9
41 anoxia 10.9
42 alpha-methylacetoacetic aciduria 10.9
43 argininosuccinic aciduria 10.9
44 carnitine-acylcarnitine translocase deficiency 10.9
45 succinyl-coa:3-oxoacid-coa transferase deficiency 10.9
46 3-methylglutaconic aciduria, type i 10.9
47 holocarboxylase synthetase deficiency 10.9
48 glycine encephalopathy 10.9
49 2-methylbutyryl-coa dehydrogenase deficiency 10.9
50 encephalopathy, acute, infection-induced 4 10.9

Comorbidity relations with Ocular Motor Apraxia via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Alzheimer Disease
Cardiac Arrest 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:

31
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 31 HP:0000090
2 oculomotor apraxia 31 HP:0000657
3 jerky head movements 31 HP:0006961
4 horizontal opticokinetic nystagmus 31 HP:0008026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Ocular Motor Apraxia:


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

GenomeRNAi Phenotypes related to Ocular Motor Apraxia according to GeneCards Suite gene sharing:

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.8 DHX30
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.8 ATM DHX30
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.8 HARS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.8 DHX30
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.8 DHX30
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.8 ATM
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.8 ATM
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.8 DHX30
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.8 HARS1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.8 HARS1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.8 DHX30
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.8 HARS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.8 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.72 HARS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.72 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.72 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.72 ATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.72 ATM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.72 ATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.72 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 HARS1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.72 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 HARS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.72 HARS1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.72 HARS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.72 ATM HARS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.72 HARS1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 HARS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.72 HARS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.72 HARS1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 HARS1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.72 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.72 ATM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 ATM
37 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.72 HARS1

Drugs & Therapeutics for Ocular Motor Apraxia

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
2
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
3
Ticagrelor Approved Phase 4 274693-27-5 9871419
4
Cangrelor Approved Phase 4 163706-06-7 9854012
5
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
6 Kava Approved, Investigational, Nutraceutical Phase 4 9000-38-8
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
9 Trace Elements Phase 4
10 Vitamins Phase 4
11 Nutrients Phase 4
12 Micronutrients Phase 4
13 Antibiotics, Antitubercular Phase 4
14 Amoxicillin-Potassium Clavulanate Combination Phase 4
15 Anti-Bacterial Agents Phase 4
16 beta-Lactamase Inhibitors Phase 4
17 Vitamin B Complex Phase 4
18 Folate Phase 4
19 Vitamin B9 Phase 4
20 Thiamin Phase 4
21 Neurotransmitter Agents Phase 4
22 Platelet Aggregation Inhibitors Phase 4
23 Purinergic P2Y Receptor Antagonists Phase 4
24 Anti-Infective Agents Phase 4
25 Antiviral Agents Phase 4
26 Pharmaceutical Solutions Phase 4
27 Respiratory System Agents Phase 4
28 Protective Agents Phase 4
29 Antioxidants Phase 4
30 Liver Extracts Phase 4
31 N-monoacetylcystine Phase 4
32 Expectorants Phase 4
33 Antidotes Phase 4
34
Amantadine Approved Phase 2, Phase 3 768-94-5 2130
35
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
36
Ethanol Approved Phase 3 64-17-5 702
37
Rocuronium Approved Phase 3 119302-91-9, 143558-00-3 441290
38
Succinylcholine Approved Phase 3 306-40-1 5314
39
Artesunate Approved, Investigational Phase 3 88495-63-0 6917864 5464098
40
Carbon monoxide Approved, Investigational Phase 3 630-08-0 281
41
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
42
Lecithin Experimental Phase 3 8002-43-5
43 Dopamine Agents Phase 2, Phase 3
44 Analgesics, Non-Narcotic Phase 2, Phase 3
45 Antiparkinson Agents Phase 2, Phase 3
46 Analgesics Phase 2, Phase 3
47 Complement System Proteins Phase 3
48 Ubiquinone Phase 3
49 Neuroprotective Agents Phase 3
50 Epoetin alfa Phase 3 113427-24-0

Interventional clinical trials:

(show top 50) (show all 115)
# Name Status NCT ID Phase Drugs
1 Pilot Randomized Clinical Trial Comparing the Efficacy of Two Different Hypothermia Temperatures for Treatment of Comatose Patients Recovered From an Out-of-hospital Cardiac Arrest Completed NCT01155622 Phase 4
2 Prophylactic Versus Clinically-driven Antibiotics in Comatose Survivors of Out-of-hospital Cardiac Arrest Completed NCT02899507 Phase 4 Amoxicillin-Clavulanic acid
3 Thiamin Deficiency in Obese Thai Children Completed NCT02464865 Phase 4 Thiamine 1;Thiamine 2
4 Platelet Inhibition With Cangrelor in Comatose Survivors of Out-of-hospital Cardiac Arrest Undergoing Primary Percutaneous Coronary Intervention Recruiting NCT04005729 Phase 4 Cangrelor 50 MG
5 A Multi-Center Trial to Study Acute Liver Failure: N-Acetylcysteine (NAC) Open Label Use Study Terminated NCT00896025 Phase 4 N-acetylcysteine
6 Asia Coma Electrical Stimulation Trial: an Asian Multicenter Randomized Controlled Trial to Assess the Efficacy and Safety of Right Median Nerve Stimulation for Traumatic Coma Unknown status NCT02645578 Phase 3
7 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
8 High Dose of Erythropoietin Analogue After Cardiac Arrest: a Multicentre, Randomised, Controlled Trial (Epo-ACR-02 Trial) Completed NCT00999583 Phase 3 EPOETINE ALPHA
9 Succinylcholine vs Rocuronium for Prehospital Emergency Intubation : a Randomized Trial Completed NCT02000674 Phase 3 Succinylcholine : 1mg/kg;Rocuronium : 1.2 mg/kg
10 Erigo®Pro Coma Outcome Study - Study on the Effectiveness of a Robotic Tilt Table Device for Recovery of Consciousness Completed NCT02639481 Phase 3
11 A Multicenter Prospective Randomized Controlled Trial of the Effectiveness of Amantadine Hydrochloride in Promoting Recovery of Function Following Severe Traumatic Brain Injury Completed NCT00970944 Phase 2, Phase 3 Amantadine Hydrochloride;Placebo
12 Treating Brain Swelling in Pediatric Cerebral Malaria Recruiting NCT03300648 Phase 3 Hypertonic saline
13 Non-invasive Airway Management of Comatose Poisoned Emergency Patients Not yet recruiting NCT04653597 Phase 3
14 Phase 3 Study of Hyperbaric Oxygen Therapy for Comatose Patients With Acute Domestic Carbon Monoxide Poisoning Terminated NCT01099995 Phase 3
15 Phase 3 Study of Hyperbaric Oxygen Therapy in Non-Comatose Patients With Acute Domestic Carbon Monoxide Poisoning Terminated NCT01100515 Phase 3
16 Early Verticalization in neuroICU With ERIGO: a Safety and Feasibility Study Completed NCT02100592 Phase 1, Phase 2
17 Evaluation of the Efficacy and Safety of Inhaled Nitric Oxide (iNO) as Adjunctive Treatment for Cerebral Malaria in Children: A Randomized Open Label Phase II Clinical Trial Completed NCT01388842 Phase 2 inhaled nitric oxide;Placebo
18 Amantadine to Speed Awakening After Cardiac Arrest Completed NCT02486211 Phase 2 Amantadine;Placebo
19 Transcranial Direct Current Stimulation in Patients With Disorders of Consciousness: a Sham-controlled Randomised Double Blind Study Completed NCT01673126 Phase 2
20 Effects of Multichannel Transcranial Direct Current Stimulation to Reduce Hypertonia in Patients With Prolonged Disorders of Consciousness: a Pilot Study. Completed NCT03797573 Phase 1
21 A Prospective Trial of Elective Extubation in Brain Injured Patients Meeting Extubation Criteria for Ventilatory Support. Completed NCT00729261 Phase 1
22 Mechanism of Amantadine and Functional Improvement Following Acquired Brain Injury as Measured by MRI Tractography; A Pilot Study Unknown status NCT02566720 Amantadine
23 Evaluation of Mechanisms Responsible for Coma in Patients Affected by Fulminant, Acute and Chronic Hepatic Failure Unknown status NCT01582087
24 Comparison Between High-density Electroencephalography and Conventional Electroencephalography to Diagnose the Presence of Consciousness in Post-anoxic Comatose Patients Unknown status NCT02588482
25 Optic Nerve Sheath Diameter Measured by Bedside Ultrasound May be a Simple Screening Test for Increased Intracranial Pressure in the Comatose Critically Ill Patient Unknown status NCT02338284
26 Mortality and Risk Factors in Patients With Acute Cardiogenic Pulmonary Edema: a Multicentric, Observational, Prospective Study Unknown status NCT01269177
27 Benefits of Amantadine in Patients With Coma State Unknown status NCT03443037 amantadine sulphate
28 Analyse de l'activité cérébrale intrinsèque Pendant le Coma et Lors du Retour à la Conscience Unknown status NCT01620957
29 The Use of Chaperone in Routine First Visit Anorectal Examination of Women Unknown status NCT03615586
30 CT Perfusion in the Prognostication of Patients in Coma Following Cardiac Arrest- A Pilot Study Unknown status NCT02102945
31 Outcome Predictors of Non Traumatic Coma in Children Unknown status NCT03618745
32 The Development Of MEdical Rehabilitation inRussia Pilot Project Unknown status NCT02793934
33 A Randomised Controlled Study of the Use of Recovery Positions for Comatose Patients in a Resource Limited Setting Completed NCT02427633
34 The Effect of Antithrombotic Treatment Administrated Through Nasogastric Tubes to Comatose Patients Undergoing Acute Percutaneous Coronary Intervention Completed NCT02175875
35 Improving Oral Care to Reduce Hospital Acquired Pneumonia (HAP) in the Acute, Non-Intubated, Care Dependent, Neurologically Impaired Adult Patient Population Completed NCT01498601
36 Validation of the Russian Version of Coma Recovery Scale-Revised (CRS-R) Completed NCT03060317
37 Comparison of no Protocol vs Protocolized Approach to Pain, Sedation and Delirium Management in the ICU Completed NCT00506649
38 The Performance of the Synek Score to Predict Poor Neurological Outcome in Postanoxic Comatose Patients Treated With Induced Hypothermia Completed NCT03737747
39 Multimodal Magnetic Resonance (MRI) Development in Comatose Patients for an Algorithm in the Prediction of Consciousness Recovery Completed NCT00577954
40 Use of Music and Vocal Stimulus in Patients in Coma State - Relations Between Auditory Stimulus, Vital Signs, Face Expression and Glasgow Coma Scale or Ramsay Scale Completed NCT00959829
41 Further Psychometric Data for the Reliability and the Diagnostic Validity of the Coma Recovery Scale-Revised Completed NCT03126929
42 Target Behaviours to Identify Minimally Conscious State Patients by Using Coma Recovery Scale-Revised Completed NCT04471753
43 A Pilot Multicenter Randomized Trial on the Effectiveness of Different Levels of Cooling in Comatose Survivors of Out-of-hospital Cardiac Arrest. Completed NCT02035839
44 Monitoring of Cerebral Oxygenation Using Jugular Oximetry in Comatose Patients After Cardiac Arrest Completed NCT02806778
45 Cognitive Auditory Evoked Potential After Cardiac Arrest: Interest of Mismatch negativiTY: The CAPACITY Study Completed NCT01980446
46 Bioavailability of Medium Chain Triglycerides (MCTs) in Comatose Patients With Acute Brain Injury (ABI) Completed NCT02716532
47 Evaluating the Need for Magnetic Resonance Imaging of the Cervical Spine in Obtunded Trauma Patients Completed NCT00573014
48 A Wireless EEG Patch Device for Continuous Electrographic Monitoring and Study of Coma in the Neurocritical Care Unit Completed NCT01897194
49 Study of Conscious Behavior Under Low-frequency Deep Brain Stimulation in Chronic and Severe Post-coma Disorders of Consciousness Completed NCT01718249
50 Utility of Continuous Electroencephalogram and Derived Variables in NeuroIntensive Care Completed NCT02901262

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:

40
Brain, Liver, Eye, Heart, Kidney, Thyroid, Pituitary

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 30160)
# Title Authors PMID Year
1
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 57 61
10839884 2000
2
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. 61 57
9881808 1998
3
Gaucher disease--Norrbottnian type. Ocular abnormalities. 61 57
4003050 1985
4
Familial congenital ocular motor apraxia and immune deficiency. 57 61
7387458 1980
5
Congenital ocular motor apraxia. A possible disconnection syndrome. 61 57
420600 1979
6
Congenital ocular motor apraxia. 61 57
589433 1977
7
Cogan's congenital ocular motor apraxia in two successive generations. 61 57
4643438 1972
8
Heredity of congenital ocular motor apraxia. 61 57
5024601 1972
9
Congenital ocular motor apraxia in identical twins. 57 61
5937501 1966
10
A type of congenital ocular motor apraxia presenting jerky head movements. 57 61
13005548 1952
11
Diagnosis of Coma. 42 61
33218655 2021
12
Decompensated hypothyroidism: A review for the emergency clinician. 61 42
33039222 2021
13
Toxin-Induced Coma and Central Nervous System Depression. 61 42
33040863 2020
14
Oculomotor apraxia: the presenting sign of Gaucher disease. 57
2712947 1989
15
[Cogan's congenital oculomotor apraxia. Apropos of 3 recent cases, 2 of them in the same sibship]. 57
6060428 1967
16
Tree branch through the orbit into the skull: A case report. 61
33552327 2021
17
Influence of refractive status and age on corneal higher-order aberration. 61
33517073 2021
18
Effects of extreme temperatures, fine particles and ozone on hourly ambulance dispatches. 61
33071137 2021
19
Effects of 10 Hz repetitive transcranial magnetic stimulation of the right dorsolateral prefrontal cortex in the vegetative state. 61
33500699 2021
20
The Glasgow Coma Scale: A European and Global Perspective on Enhancing Practice. 61
33526201 2021
21
Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector. 61
33473356 2021
22
Characterizing Static and Dynamic Fractional Amplitude of Low-Frequency Fluctuation and its Prediction of Clinical Dysfunction in Patients with Diffuse Axonal Injury. 61
32204986 2021
23
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias. 61
33552909 2021
24
Bilateral Large Vessel Occlusion Causing Massive Ischemic Stroke in a COVID-19 Patient. 61
33429238 2021
25
Automated geometric aberration correction for large-angle illumination STEM. 61
33548863 2021
26
Subcallosal haemorrhage as a sign of diffuse axonal injury in patients with traumatic brain injury. 61
33160606 2021
27
Identifying Patients With Hepatic Encephalopathy Using Administrative Data in the ICD-10 Era. 61
31887447 2021
28
Encephalopathy and encephalitis during acute SARS-CoV-2 infection. Spanish Society of Neurology COVID-19 Registry. 61
33549369 2021
29
Removal of baclofen with hemodialysis is negligible compared to intact kidney excretion in a pediatric overdose: a case report. 61
32734785 2021
30
Prognostic value of CT perfusion and permeability imaging in traumatic brain injury. 61
33009337 2021
31
Nephrectomy is Associated with Increased Mortality after Renal Trauma: An Analysis of the National Trauma Data Bank from 2007-2016. 61
33021435 2021
32
Comparison of the Visual Performance after Implantation of Three Aberration-correcting Aspherical Intraocular Lens. 61
32935593 2021
33
Cognition in patients with traumatic brain injury measured by the Montreal Cognitive Assessment-Basic. 61
31060382 2021
34
The effects of musical stimulation on the level of consciousness among patients with head trauma hospitalized in intensive care units: A randomized control trial. 61
33326929 2021
35
Multiple Neuroinvasive Pathways in COVID-19. 61
32990925 2021
36
Low-molecular-weight heparin versus unfractionated heparin in pediatric traumatic brain injury. 61
33578391 2021
37
Management and Challenges of Severe Traumatic Brain Injury. 61
32916746 2021
38
Sestrin regulates acute chill coma recovery in Drosophila melanogaster. 61
33549817 2021
39
Temporal effects of barbiturate coma on intracranial pressure and compensatory reserve in children with traumatic brain injury. 61
33341913 2021
40
Pearls and Oy-sters: Eyes Open Coma. 61
33593866 2021
41
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. 61
33024317 2021
42
Validation of a Machine Learning Brain Electrical Activity-Based Index to Aid in Diagnosing Concussion Among Athletes. 61
33587137 2021
43
Changed pattern of hospital admission in stroke during COVID-19 pandemic period in Iran: a retrospective study. 61
33394194 2021
44
The Utility of the Focused Assessment With Sonography in Trauma Examination in Pediatric Blunt Abdominal Trauma: A Systematic Review and Meta-Analysis. 61
30870341 2021
45
Measuring the Optic Nerve Sheath Diameter with Ultrasound in Acute Middle Cerebral Artery Stroke Patients. 61
33307289 2021
46
Characterization of Traumatic Brain Injury Research in the Middle East and North Africa Region: A Systematic Review. 61
33567436 2021
47
Combined Decompressive Hemicraniectomy and Port-Based Minimally Invasive Parafascicular Surgery for the Treatment of Subcortical Intracerebral Hemorrhage: Case Series, Technical Note, and Review of Literature. 61
33271377 2021
48
Vertebral osteomyelitis as a hidden cause of persistent meningeal irritation in a patient with pneumococcal meningitis: A case report. 61
33578609 2021
49
A Review of Neuronal Pathways Associated With Consciousness. 61
33252410 2021
50
Cerebrospinal Fluid Sulfonylurea Receptor-1 Is Associated with Intracranial Pressure and Outcome after Pediatric TBI: An Exploratory Analysis of the Cool Kids Trial. 61
33430695 2021

Variations for Ocular Motor Apraxia

ClinVar genetic disease variations for Ocular Motor Apraxia:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATM NM_000051.3(ATM):c.689del (p.Asn230fs) Deletion Pathogenic 374194 rs1057518965 11:108115539-108115539 11:108244812-108244812
2 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550
3 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 rs1131040 5:140057507-140057507 5:140677922-140677922
4 HARS1 NM_002109.6(HARS1):c.730delG Deletion Pathogenic 804286 rs1581505917 5:140057005-140057005 5:140677420-140677420
5 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser) SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
6 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
7 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) SNV Uncertain significance 523569 rs766248910 20:2375166-2375166 20:2394520-2394520
8 ARFGEF1 NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) SNV Uncertain significance 510229 rs201629827 8:68102960-68102960 8:67190725-67190725
9 AHI1 NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) SNV Uncertain significance 260843 rs755688765 6:135752420-135752420 6:135431282-135431282
10 TCF4 NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) SNV Likely benign 983479 rs1016959427 18:52924586-52924586 18:55257355-55257355

Copy number variations for Ocular Motor Apraxia from CNVD:

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# CNVD ID Chromosome 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

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 ATM APTX
2 double-stranded RNA binding GO:0003725 8.62 DHX30 APTX

Sources for Ocular Motor Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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