Ocular Motor Apraxia (COMA)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ocular Motor Apraxia

MalaCards integrated aliases for Ocular Motor Apraxia:

Name: Ocular Motor Apraxia 56
Coma 56 52 53 42
Oculomotor Apraxia, Congenital, Cogan-Type 56 13
Oculomotor Apraxia, Cogan Type 56 58
Saccade Initiation Failure, Congenital 56
Saccade Initiation Failure Congenital 52
Oculomotor Apraxia, Cogan Type; Coma 56
Ocular Motor Apraxia, Cogan Type 58
Oculomotor Apraxia Cogan Type 52
Congenital Oculomotor Apraxia 52
Cogan's Syndrome Type 2 52
Oculomotor Apraxia 71
Comatose 71


Orphanet epidemiological data:

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


autosomal recessive

ocular movement dysfunction improves with age


ocular motor apraxia:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare eye diseases

External Ids:

OMIM 56 257550
ICD10 32 R40.2
MESH via Orphanet 44 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

NIH Rare Diseases : 52 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 oculomotor apraxia, and has symptoms including seizures, tremor and back pain. An important gene associated with Ocular Motor Apraxia is COMA (Cogan-Type Congential Oculomotor Apraxia). The drugs Clavulanate and Dobutamine 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 : 56 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 : 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 856)
# Related Disease Score Top Affiliating Genes
1 apraxia 30.5 NPHP1 APTX
2 oculomotor apraxia 28.7 NPHP1 COMA APTX
3 hypoglycemic coma 12.8
4 hepatic coma 12.6
5 basedow's coma 12.4
6 viral hepatitis 11.9
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
8 joubert syndrome 1 11.7
9 persistent vegetative state 11.6
10 akinetic mutism 11.6
11 hepatic encephalopathy 11.5
12 traumatic brain injury 11.5
13 creutzfeldt-jakob disease 11.5
14 familial hemiplegic migraine 11.5
15 ornithine transcarbamylase deficiency, hyperammonemia due to 11.5
16 lysinuric protein intolerance 11.5
17 acyl-coa dehydrogenase, medium-chain, deficiency of 11.5
18 propionic acidemia 11.5
19 brain edema 11.4
20 wernicke-korsakoff syndrome 11.4
21 japanese encephalitis 11.4
22 central pontine myelinolysis 11.4
23 citrullinemia, classic 11.4
24 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.4
25 hyperinsulinemic hypoglycemia, familial, 2 11.4
26 carnitine deficiency, systemic primary 11.4
27 acute disseminated encephalomyelitis 11.4
28 anoxia 11.3
29 malaria 11.3
30 eclampsia 11.3
31 reye syndrome 11.3
32 insulinoma 11.3
33 hypoxia 11.3
34 hypophosphatemia 11.3
35 cerebral hypoxia 11.3
36 n-acetylglutamate synthase deficiency 11.3
37 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.3
38 maple syrup urine disease 11.3
39 diabetes mellitus, type i 11.3
40 urea cycle disorder 11.3
41 pre-eclampsia 11.3
42 alcohol use disorder 11.3
43 carnitine palmitoyltransferase i deficiency 11.2
44 adrenoleukodystrophy 11.2
45 autoimmune encephalitis 11.2
46 sleeping sickness 11.2
47 st. louis encephalitis 11.2
48 marchiafava bignami disease 11.2
49 new-onset refractory status epilepticus 11.2
50 sporadic hemiplegic migraine 11.2

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:

# 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:

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:


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

Drugs & Therapeutics for Ocular Motor Apraxia

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

(show top 50) (show all 384)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
Dobutamine Approved Phase 4 34368-04-2 36811
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
Haloperidol Approved Phase 4 52-86-8 3559
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
Histamine Approved, Investigational Phase 4 51-45-6 774
Famotidine Approved Phase 4 76824-35-6 3325
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Glimepiride Approved Phase 4 93479-97-1 3476
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
Insulin glargine Approved Phase 4 160337-95-1
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
Abciximab Approved Phase 4 143653-53-6
Tirofiban Approved Phase 4 144494-65-5 60947
Gliclazide Approved Phase 4 21187-98-4 3475
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4 90-89-1 3052
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
Ticagrelor Approved Phase 4 274693-27-5 9871419
Cangrelor Approved Phase 4 163706-06-7 9854012
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
Lactulose Approved Phase 4 4618-18-2 11333
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
Ferrous fumarate Approved Phase 4 141-01-5
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
Amantadine Approved Phase 4 768-94-5 2130
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
Acetaminophen Approved Phase 4 103-90-2 1983
Conivaptan Approved, Investigational Phase 4 210101-16-9 151171
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
Tolvaptan Approved Phase 4 150683-30-0 216237
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
44 Amoxicillin-Potassium Clavulanate Combination Phase 4
45 Antipsychotic Agents Phase 4
46 Anesthetics, Inhalation Phase 4
47 Dopamine Antagonists Phase 4
48 Haloperidol decanoate Phase 4
49 Chlorhexidine gluconate Phase 4
50 Thiamin Phase 4

Interventional clinical trials:

(show top 50) (show all 691)
# Name Status NCT ID Phase Drugs
1 Treatment of Intracranial Hypertension of Severe Tramatic Brain Injured Patients. Physiopathologic Effects of Neuromuscular Blocking Agents. A Controlled Randomized Study Versus Placebo Unknown status NCT02404779 Phase 4 cisatracurium besilate
2 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
3 Prophylactic Versus Clinically-driven Antibiotics in Comatose Survivors of Out-of-hospital Cardiac Arrest Completed NCT02899507 Phase 4 Amoxicillin-Clavulanic acid
4 Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Completed NCT00347243 Phase 4
5 Comparison of Antiplatelet Therapy With Clopidogrel and Ticagrelor in Patients After Cardiac Arrest Treated With Therapeutic Hypothermia Completed NCT02224274 Phase 4 Clopidogrel;Ticagrelor
6 PROcalcitonin Pneumonia / Pneumonitis Associated With ASPIration Completed NCT02862314 Phase 4
7 Preventing ICU Subsyndromal Delirium Conversion to Delirium With Low Dose IV Haloperidol: A Double-Blind, Placebo-Controlled Pilot Study Completed NCT01174290 Phase 4 Haloperidol decanoate;Placebo
8 Thiamin Deficiency in Obese Thai Children Completed NCT02464865 Phase 4 Thiamine 1;Thiamine 2
9 Improvement of Therapy in Patients With Severe Traumatic Brain Injury: Differential Impact of Local and Systemic Changes and Routinely Applied Drugs Completed NCT02130674 Phase 4 Dipeptiven
10 Phase 4 Prospective, Randomized, Blinded Study on the Effect of Different Hydration Strategies on Mortality and Changes in Quality of Life of Patients Suffering From Subarachnoid Haemorrhage Completed NCT02064075 Phase 4 Lactated Ringer's solution;Hydroxyethyl starch
11 Comparison of Esomeprazole and Famotidine for Stress Ulcer Prophylaxis in Neurosurgical Intensive Care Unit Completed NCT00633035 Phase 4 esomeprazole 40 mg;famotidine 20 mg
12 Effect of Dosage Reduction of Glucose-Lowering Multidrug Regimens on the Incidence of Acute Glycemic Complications in People With Type 2 Diabetes Who Fast During Ramadan: An Open-Label, Parallel-Group, Randomized, Controlled Trial Completed NCT04237493 Phase 4 Metformin and Glimepiride (Low Dosage);Metformin and Vildagliptin (Low Dosage);Metformin and Insulin Glargine U100 (Low Dosage);Metformin, Insulin Glargine U100, and Human Regular Insulin (Low Dosage);Metformin and Glimepiride (Regular Dosage);Metformin and Vildagliptin (Regular Dosage);Metformin and Insulin Glargine U100 (Regular Dosage);Metformin, Insulin Glargine U100, and Human Regular Insulin (Regular Dosage)
13 LOLA in Hepatic Encephalopathy Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate A Phase iv Randomised Double Blind Placebo- Controlled Trial Completed NCT01847651 Phase 4 LOLA or placebo
14 FATA: Comparison Between Tirofiban and Abciximab in Facilitated Angioplasty With Stent Implantation: Randomized Multicentre Study Completed NCT00383136 Phase 4 tirofiban high-bolus dose regimen;Abciximab
15 Effect of Oral Decontamination Using Chlorhexidine or Potassium Permanganate in ICU Patients: an Open-Labelled Randomized Controlled Trial Completed NCT00610324 Phase 4 Chlorhexidine gluconate;Potassium permanganate
16 Phase 4 Study of Comparison of Combination Therapy of Gliclazide MR and Basal Insulin With Pre-mix Insulin Monotherapy for the Patients With Type 2 Diabetes Mellitus Completed NCT00736515 Phase 4 Gliclazide MR and Insulin Glargine Injection;Biosynthetic Human Insulin Injection
17 Weaning With Smartcare in Mechanically Ventilated Patients in the ICU - a Controlled and Randomized Study Completed NCT02122016 Phase 4
18 Multicenter, Randomised Study of the Use of Non-Invasive Ventilation (NIV) Versus Oxygen Therapy (O2) in Reducing Dyspnea in End-stage Solid Cancer Patients With Respiratory Failure and Distress Completed NCT00533143 Phase 4
19 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
20 Comparison of Total Intravenous Anesthesia vs. Inhalational Anesthesia on Brain Relaxation, Subdural Pressure and Hemodynamics in Patients With Acute Subdural Hematoma Undergoing Emergency Craniotomy- A Randomized Control Trial Completed NCT03146104 Phase 4 Propofol;Isoflurane
21 Strategy of Early Improvement of Tissue Oxygenation Decrease the Mortality of Severe Sepsis Completed NCT01310790 Phase 4
22 Comparison Between the Post-Treatment Reactions After Single-dose Ivermectin or DEC in Subjects With Loa Loa Infection Completed NCT01593722 Phase 4 Diethylcarbamazine;Ivermectin
23 Introduction of New Hypo-Osmolar ORS (Recommended by WHO) for Routine Use in the Management of Diarrhoeal Diseases – A Phase IV Surveillance Study Completed NCT00490932 Phase 4 Hypo-osmolar ORS
24 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
25 Phase 4 Study of a Reminiscence Program to Improve Quality of Life of Alzheimer's Disease Long Term Care Residents Using a Randomized Controlled Trial Completed NCT01295957 Phase 4
26 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
27 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
28 Cognitive Outcomes After Dexmedetomidine Sedation in Cardiac Surgery Patients: CODEX Trial Recruiting NCT04289142 Phase 4 Dexmedetomidine Hydrochloride Group
29 Dexmedetomidine to Reduce the Incidence of Persistent Cognitive Dysfunction After Open Cardiac Surgery: A Pilot Randomized Trial Recruiting NCT03480061 Phase 4 Dexmedetomidine Hydrochloride Group
30 Pharmacokinetic/Pharmacodynamic Effects of add-on Antiplatelet Therapy With Parenteral Cangrelor as Compared to Standard Dual Antiplatelet Treatment in Patients With ST-elevation Myocardial Infarction Complicated by Out-of-hospital Cardiac Arrest and Treated With Targeted Temperature Management Recruiting NCT03273075 Phase 4 Cangrelor;Placebo;Prasugrel;Ticagrelor
31 The Effect of Ramelteon on Delirium and Sleep in Patients Admitted to the ICU Recruiting NCT03931070 Phase 4 Ramelteon;Placebo - Cap
32 Therapeutic Efficacy of Oral PEG3350 Plus Lactulose Versus Lactulose Alone in Patients of Acute on Chronic Liver Failure With Overt Hepatic Encephalopathy: A Single Blind Prospective Randomized Controlled Study Recruiting NCT03987893 Phase 4 PEG-3350 with Electolytes;Lactulose
33 Preoperative, Single-dose Intravenous Iron Formulation to Reduce Post-surgical Complications in Patients Undergoing Major Abdominal Surgery: a Pilot Randomised Control Trial (PIRCAS Trial - Pilot) Recruiting NCT03295851 Phase 4 Ferric carboxymaltose;Ferrous Fumarate
34 Combination Treatment With Cerebrolysin and Amantadine on Prolonged Disorders of Consciousness in Patients With Severe Traumatic Brain Injury: A Pilot Study Not yet recruiting NCT04427241 Phase 4 Amantadine Sulfate plus Cerebrolysin;Amantadine Sulfate;Cerebrolysin
35 The Applicability of Different Scoring Systems and Use of Steroids in the Treatment of Hospital Acquired Pneumonia Not yet recruiting NCT03121690 Phase 4 Prednisone;placebo
36 Better Outcome With Melatonin Compared to Placebo Administered to Normalize Sleep-wake Cycle and Treat Hypoactive ICU Delirium The Basel BOMP-AID Randomized Trial Not yet recruiting NCT03438526 Phase 4 Melatonin (Circadin ®);Placebo
37 Mild Induced Hypothermia to Treat Severe Community Acquired Meningitis in Adults Admitted to Intensive Care Unit Terminated NCT00774631 Phase 4
38 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4 Conivaptan
39 Role of Dexamethasone in the Conservative Treatment of Chronic Subdural Hematoma: a Double-blind Randomized Controlled Pilot Study Terminated NCT02362321 Phase 4 Dexamethasone
40 A Multi-Center Trial to Study Acute Liver Failure: N-Acetylcysteine (NAC) Open Label Use Study Terminated NCT00896025 Phase 4 N-acetylcysteine
41 Propofol Versus Midazolam for Sedation in Mechanically Ventilated Critically Ill Patients Who Presented With Traumatic Brain Injury: Cytokine Response and Neuropsychological Assessment (IRRC#1201M) Terminated NCT01712477 Phase 4 Intravenous sedation using propofol;Intravenous sedation with midazolam
42 Clinical, Pharmacological and Molecular Effects of Intravenous and Oral Acetaminophen in Adults With Aneurysmal Sub-Arachnoid Hemorrhage Terminated NCT02549716 Phase 4 IV acetaminophen;Oral acetaminophen;Oral placebo;IV placebo
43 Tight Intra-Operative Glucose Control Using Continuous Insulin Infusion During Coronary Artery Bypass Surgery: Randomized Controlled Trial Terminated NCT00394303 Phase 4 Intraoperative continuous insulin infusion
44 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
45 Antibiotic Prophylaxis for Early Ventilator-associated Pneumonia in Neurological Patients: A Randomized Trial Withdrawn NCT01118403 Phase 4 Sultamicillin
46 The Efficacy and Safety of Cleviprex in Ventriculostomy Patients Requiring IV Antihypertensive Therapy Investigator Initiated Trial Withdrawn NCT01042574 Phase 4 Clevidipine butyrate
47 Inhaled Nebulised S(+)-Ketamine for Postoperative Analgesia Withdrawn NCT02397356 Phase 4 Ketamine first AB;Placebo first BA
48 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
49 Effect of Mannitol as Adjunct Therapy on the Clinical Outcome of Childhood Cerebral Malaria in Mulago Hospital: A Randomised Clinical Trial Unknown status NCT00113854 Phase 3 Mannitol
50 Pilot Study of Hypothermia for Intracerebral Hemorrhage in Croatia Unknown status NCT01221142 Phase 3

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:

Brain, Liver, Eye, Testes, Kidney, Heart, Thyroid

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 30161)
# Title Authors PMID Year
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 56 61
10839884 2000
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. 61 56
9881808 1998
Gaucher disease--Norrbottnian type. Ocular abnormalities. 56 61
4003050 1985
Familial congenital ocular motor apraxia and immune deficiency. 61 56
7387458 1980
Congenital ocular motor apraxia. A possible disconnection syndrome. 61 56
420600 1979
Congenital ocular motor apraxia. 56 61
589433 1977
Cogan's congenital ocular motor apraxia in two successive generations. 56 61
4643438 1972
Heredity of congenital ocular motor apraxia. 56 61
5024601 1972
Congenital ocular motor apraxia in identical twins. 56 61
5937501 1966
A type of congenital ocular motor apraxia presenting jerky head movements. 61 56
13005548 1952
Oculomotor apraxia: the presenting sign of Gaucher disease. 56
2712947 1989
[Cogan's congenital oculomotor apraxia. Apropos of 3 recent cases, 2 of them in the same sibship]. 56
6060428 1967
Identification of distinct clinical phenotypes in mechanically ventilated patients with acute brain dysfunction using cluster analysis. 42
32358385 2020
The Other Side. 42
32207802 2020
Expanding pancreas donor pool by evaluation of unallocated organs after brain death: Study protocol clinical trial (SPIRIT Compliant). 42
32150070 2020
D-dimer/fibrinogen ratio for the prediction of progressive hemorrhagic injury after traumatic brain injury. 61
32333859 2020
Toll-like receptor 4 is a therapeutic target for prevention and treatment of liver failure. 61
31987990 2020
Serum substance P levels and early mortality of spontaneous intracerebral haemorrhage patients. 61
32414584 2020
Near-infrared Spectroscopy-derived Cerebral Autoregulation Indices Independently Predict Clinical Outcome in Acutely Ill Comatose Patients. 61
30864999 2020
Putting a halt to unnecessary transfers: Do patients with isolated subarachnoid hemorrhage and Glasgow Coma Scale of 13 to 15 need a trauma center? 61
32118824 2020
Laparoscopy Compared With Laparotomy for the Management of Pediatric Blunt Abdominal Trauma. 61
32200321 2020
Genetic Variation in the TP53 Gene and Patient Outcomes Following Severe Traumatic Brain Injury. 61
32207313 2020
Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis. 61
32418642 2020
Mortality of children aged 5-15 years in a tertiary care center in Yaoundé, Cameroon. 61
32409247 2020
Predictors of intracranial hypertension in children undergoing ICP monitoring after severe traumatic brain injury. 61
31970473 2020
Identification of scavenger receptor BI as a potential screening candidate for congenital primary adrenal insufficiency in humans. 61
32369415 2020
Drinking to death: Hyponatraemia induced by synthetic phenethylamines. 61
32460203 2020
Automated pupillometry and the FOUR score - what is the diagnostic benefit in neurointensive care? 61
32383011 2020
Usefulness of serum glucose and potassium ratio as a predictor for 30-day death among patients with severe traumatic brain injury. 61
32240656 2020
Epstein-Barr virus-related encephalitis in a young woman: A case report. 61
32147376 2020
Early diagnosis of subclinical keratoconus by wavefront parameters using Scheimpflug, Placido and Hartmann-Shack based devices. 61
32219617 2020
Lateral Brain Displacement and Cerebral Autoregulation in Acutely Comatose Patients. 61
32371609 2020
Factors Associated With DNR Status After Nontraumatic Intracranial Hemorrhage. 61
32549939 2020
Clinical features and aetiology of cerebral palsy in children from Cross River State, Nigeria. 61
31959596 2020
Functional outcome, in-hospital healthcare consumption and in-hospital costs for hospitalised traumatic brain injury patients: a Dutch prospective multicentre study. 61
32410121 2020
Elevated intracranial pressure after head trauma can be suppressed by antisecretory factor-a pilot study. 61
32445122 2020
Baseline factors associated with early and late death in intracerebral haemorrhage survivors. 61
32223078 2020
Early cognitive impairment is common after intracranial hemorrhage with mild traumatic brain injury. 61
32102043 2020
Temporal Profile of Recovery of Communication in Patients With Disorders of Consciousness After Severe Brain Injury. 61
32113971 2020
Association of Insurance Status With Treatment and Outcomes in Pediatric Patients With Severe Traumatic Brain Injury. 61
32427612 2020
Risk assessment for intra-abdominal injury following blunt trauma in children: Derivation and validation of a machine learning model. 61
32569105 2020
Clinical outcomes of mechanical thrombectomy following intravenous administration of recombinant tissue-type plasminogen activator for basilar artery occlusion. 61
32247170 2020
[Hyponatremia in older persons (part I)-keep diagnosis simple : How to detect tricks and avoid pitfalls]. 61
32488305 2020
Neurological Prognostication in Children After Cardiac Arrest. 61
32381279 2020
Mortality and Functional Outcome Predictors in Combat-Related Penetrating Brain Injury Treatment in a Specialty Civilian Medical Facility. 61
32091603 2020
Use of peripheral vascular access in the prehospital setting: is there room for improvement? 61
32517763 2020
Analysis of brain natriuretic peptide serum levels in patients with symptomatic chronic subdural hematoma: a potential reliable biomarker. 61
32524892 2020
Prehospital Vital Signs Accurately Predict Initial Emergency Department Vital Signs. 61
32127060 2020
123I-Iofluopane Single-Photon Emission Computed Tomography as an Imaging Biomarker of Pre-Synaptic Dopaminergic System after Moderate-to-Severe Traumatic Brain Injury. 61
32216525 2020
Performance of a guideline-recommended algorithm for prognostication of poor neurological outcome after cardiac arrest. 61
32494928 2020

Variations for Ocular Motor Apraxia

Copy number variations for Ocular Motor Apraxia from CNVD:

# 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

Sources for Ocular Motor Apraxia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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