COMA
MCID: OCL069
MIFTS: 51

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 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 860)
# 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 12.5
5 basedow's coma 12.4
6 viral hepatitis 11.8
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
8 joubert syndrome 1 11.7
9 akinetic mutism 11.6
10 hepatic encephalopathy 11.5
11 persistent vegetative state 11.5
12 creutzfeldt-jakob disease 11.5
13 familial hemiplegic migraine 11.5
14 ornithine transcarbamylase deficiency, hyperammonemia due to 11.5
15 lysinuric protein intolerance 11.5
16 acyl-coa dehydrogenase, medium-chain, deficiency of 11.5
17 wernicke-korsakoff syndrome 11.4
18 japanese encephalitis 11.4
19 central pontine myelinolysis 11.4
20 citrullinemia, classic 11.4
21 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.4
22 hyperinsulinemic hypoglycemia, familial, 2 11.4
23 cerebral beriberi 11.4
24 carnitine deficiency, systemic primary 11.4
25 propionic acidemia 11.4
26 acute disseminated encephalomyelitis 11.4
27 metabolic acidosis 11.3
28 anoxia 11.3
29 brain edema 11.3
30 malaria 11.3
31 eclampsia 11.3
32 hemiplegic migraine 11.3
33 reye syndrome 11.3
34 insulinoma 11.3
35 hypophosphatemia 11.3
36 cerebral hypoxia 11.3
37 n-acetylglutamate synthase deficiency 11.3
38 maple syrup urine disease 11.3
39 diabetes mellitus, insulin-dependent 11.3
40 urea cycle disorder 11.3
41 pre-eclampsia 11.2
42 alcohol use disorder 11.2
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:

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:

56
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, 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 399)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
2
Dobutamine Approved Phase 4 34368-04-2 36811
3
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
4
Haloperidol Approved Phase 4 52-86-8 3559
5
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
6
Histamine Approved, Investigational Phase 4 51-45-6 774
7
Famotidine Approved Phase 4 76824-35-6 3325
8
Zinc Approved, Investigational Phase 4 7440-66-6 32051
9
Gliclazide Approved Phase 4 21187-98-4 3475
10
Insulin glargine Approved Phase 4 160337-95-1
11
Tirofiban Approved Phase 4 144494-65-5 60947
12
Abciximab Approved Phase 4 143653-53-6
13
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
14
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
15
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
16
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 4 90-89-1 3052
17
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
18
Lactulose Approved Phase 4 4618-18-2 11333
19
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
20
Ferrous fumarate Approved Phase 4 141-01-5
21
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
22
Ticagrelor Approved Phase 4 274693-27-5 9871419
23
Cangrelor Approved Phase 4 163706-06-7 9854012
24
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
25
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
tannic acid Approved Phase 4 1401-55-4
28
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
29
Acetaminophen Approved Phase 4 103-90-2 1983
30
Conivaptan Approved, Investigational Phase 4 210101-16-9 151171
31
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
32
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
33
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
34
Tolvaptan Approved Phase 4 150683-30-0 216237
35
Phenylalanine Approved, Investigational, Nutraceutical Phase 4 63-91-2 6140
36
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
38
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
39
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
40 Anticonvulsants Phase 4
41 Amoxicillin-Potassium Clavulanate Combination Phase 4
42 Antipsychotic Agents Phase 4
43 Anesthetics, Inhalation Phase 4
44 Haloperidol decanoate Phase 4
45 Dopamine Antagonists Phase 4
46 Chlorhexidine gluconate Phase 4
47 Vitamin B9 Phase 4
48 Vitamin B Complex Phase 4
49 Folate Phase 4
50 Thiamin Phase 4

Interventional clinical trials:

(show top 50) (show all 641)
# 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 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
7 Thiamin Deficiency in Obese Thai Children Completed NCT02464865 Phase 4 Thiamine 1;Thiamine 2
8 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
9 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
10 Comparison of Esomeprazole and Famotidine for Stress Ulcer Prophylaxis in Neurosurgical Intensive Care Unit Completed NCT00633035 Phase 4 esomeprazole 40 mg;famotidine 20 mg
11 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
12 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
13 Weaning With Smartcare in Mechanically Ventilated Patients in the ICU - a Controlled and Randomized Study Completed NCT02122016 Phase 4
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 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
17 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
18 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
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 Between the Post-Treatment Reactions After Single-dose Ivermectin or DEC in Subjects With Loa Loa Infection Completed NCT01593722 Phase 4 Diethylcarbamazine;Ivermectin
21 Strategy of Early Improvement of Tissue Oxygenation Decrease the Mortality of Severe Sepsis Completed NCT01310790 Phase 4
22 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
23 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
24 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
25 PROcalcitonin Pneumonia / Pneumonitis Associated With ASPIration Recruiting NCT02862314 Phase 4
26 Dexmedetomidine to Reduce the Incidence of Persistent Cognitive Dysfunction After Open Cardiac Surgery: A Pilot Randomized Trial Recruiting NCT03480061 Phase 4 Dexmedetomidine Hydrochloride Group
27 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
28 The Effect of Ramelteon on Delirium and Sleep in Patients Admitted to the ICU Recruiting NCT03931070 Phase 4 Ramelteon;Placebo - Cap
29 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
30 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
31 Platelet Inhibition With Cangrelor in Comatose Survivors of Out-of-hospital Cardiac Arrest Undergoing Primary Percutaneous Coronary Intervention Not yet recruiting NCT04005729 Phase 4 Cangrelor 50 MG
32 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
33 Mild Induced Hypothermia to Treat Severe Community Acquired Meningitis in Adults Admitted to Intensive Care Unit Terminated NCT00774631 Phase 4
34 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4 Conivaptan
35 Role of Dexamethasone in the Conservative Treatment of Chronic Subdural Hematoma: a Double-blind Randomized Controlled Pilot Study Terminated NCT02362321 Phase 4 Dexamethasone
36 A Multi-Center Trial to Study Acute Liver Failure: N-Acetylcysteine (NAC) Open Label Use Study Terminated NCT00896025 Phase 4 N-acetylcysteine
37 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
38 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
39 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
40 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4 Tolvaptan;Placebo
41 Antibiotic Prophylaxis for Early Ventilator-associated Pneumonia in Neurological Patients: A Randomized Trial Withdrawn NCT01118403 Phase 4 Sultamicillin
42 The Efficacy and Safety of Cleviprex in Ventriculostomy Patients Requiring IV Antihypertensive Therapy Investigator Initiated Trial Withdrawn NCT01042574 Phase 4 Clevidipine butyrate
43 Inhaled Nebulised S(+)-Ketamine for Postoperative Analgesia Withdrawn NCT02397356 Phase 4 Ketamine first AB;Placebo first BA
44 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
45 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
46 Pilot Study of Hypothermia for Intracerebral Hemorrhage in Croatia Unknown status NCT01221142 Phase 3
47 Vagus Nerve Stimulation to Augment Recovery From Minimally Conscious or Persistently Vegetative States After Traumatic Brain Injury Unknown status NCT01260090 Phase 3
48 NEWBORN VENTILATION IN THE DELIVERY ROOM: CAN IT BE IMPROVED WITH A LARYNGEAL MASK AIRWAY? A Prospective, Randomized Single-center Study Unknown status NCT01963936 Phase 3
49 A Randomized, Double-blind, Controlled Trial Comparing Nitazoxanide Plus Lactulose With Lactulose Alone Treatment of Overt Hepatic Encephalopathy Unknown status NCT02464124 Phase 2, Phase 3 Nitazoxanide;Lactulose
50 Randomized Trial of Erythropoietin to Prevent Death From Cerebral Impairment During Severe Malaria Unknown status NCT00697164 Phase 2, Phase 3 Placebo;Erythropoietin

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, Testes, Kidney, Heart, Thyroid

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 30159)
# Title Authors PMID Year
1
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 61 56
10839884 2000
2
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. 61 56
9881808 1998
3
Gaucher disease--Norrbottnian type. Ocular abnormalities. 61 56
4003050 1985
4
Familial congenital ocular motor apraxia and immune deficiency. 61 56
7387458 1980
5
Congenital ocular motor apraxia. A possible disconnection syndrome. 61 56
420600 1979
6
Congenital ocular motor apraxia. 61 56
589433 1977
7
Cogan's congenital ocular motor apraxia in two successive generations. 61 56
4643438 1972
8
Heredity of congenital ocular motor apraxia. 61 56
5024601 1972
9
Congenital ocular motor apraxia in identical twins. 61 56
5937501 1966
10
A type of congenital ocular motor apraxia presenting jerky head movements. 61 56
13005548 1952
11
Color density spectral array for early evaluation of prognosis of patients with coma in pediatric intensive care unit. 61 42
31593114 2019
12
Real and illusory perceptions of patients in induced coma. 61 42
31269151 2019
13
Oculomotor apraxia: the presenting sign of Gaucher disease. 56
2712947 1989
14
[Cogan's congenital oculomotor apraxia. Apropos of 3 recent cases, 2 of them in the same sibship]. 56
6060428 1967
15
Guidelines for the management of the social and ethical challenges in brain death during pregnancy. 42
31127869 2019
16
Myxedema Coma in a Pediatric Patient with Down Syndrome. 61
31984162 2020
17
Acute severe intoxication with cyclopropylfentanyl, a novel synthetic opioid. 61
31778775 2020
18
The discrimination of quick Paediatric Early Warning Scores in the pre-hospital setting. 61
31828768 2020
19
Notopterygium incisum extract (NRE) rescues cognitive deficits in APP/PS1 Alzhneimer's disease mice by attenuating amyloid-beta, tau, and neuroinflammation pathology. 61
31783135 2020
20
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. 61
31770620 2020
21
Current trends of blood lead levels, distribution patterns and exposure variations among household members in Kabwe, Zambia. 61
31995873 2020
22
Does alcohol play the role of confounder or neuroprotective agent in acute carbon monoxide poisoning? 61
31198068 2020
23
Effects of α-pinene on life history traits and stress tolerance in the springtail Folsomia candida. 61
31816427 2020
24
Management Strategies for Intracranial Pressure Crises in Subarachnoid Hemorrhage. 61
30514150 2020
25
Association of diabetic ketoacidosis and HbA1c at onset with year-three HbA1c in children and adolescents with type 1 diabetes: Data from the International SWEET Registry. 61
31797499 2020
26
Acute Aortic Dissection in Young Adult Patients: Clinical Characteristics, Management, and Perioperative Outcomes. 61
30909770 2020
27
Reverse shock index multiplied by Glasgow Coma Scale (rSIG) predicts mortality in severe trauma patients with head injury. 61
32034233 2020
28
Determination of Imminent Brain Death Using the Full Outline of Unresponsiveness Score and the Glasgow Coma Scale: A Prospective, Multicenter, Pilot Feasibility Study. 61
29084482 2020
29
Why Physicians Prescribe Prophylactic Seizure Medications after Intracerebral Hemorrhage: An Adaptive Conjoint Analysis. 61
32033905 2020
30
Mode of Transport and Trauma Activation Status in Admitted Pediatric Trauma Patients. 61
31586889 2020
31
Differences in Admission Blood Pressure Among Causes of Intracerebral Hemorrhage. 61
31818231 2020
32
Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene. 61
31729055 2020
33
Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. 61
31707166 2020
34
Prospective Investigation of the Performance of 2 Gamma-Hydroxybutyric Acid Tests: DrugCheck GHB Single Test and Viva-E GHB Immunoassay. 61
31318841 2020
35
Knee dislocation and associated injuries: an analysis of the American College of Surgeons National Trauma Data Bank. 61
31559462 2020
36
Wavefront properties of the anterior and posterior corneal surface after transepithelial photorefractive keratectomy in myopia. 61
32010287 2020
37
The Effect of Intraoperative Angle Kappa Adjustment on Higher-Order Aberrations Before and After Small Incision Lenticule Extraction. 61
32040010 2020
38
Fluid Overload in Pediatric Severe Traumatic Brain Injury. 61
31568241 2020
39
What we can do? The risk factors for multi-drug resistant infection in pediatric intensive care unit (PICU): a case-control study. 61
32033572 2020
40
Three-Step Treatment of Keratoconus and Post-LASIK Ectasia: Implantation of ICRS, Corneal Cross-linking, and Implantation of Toric Posterior Chamber Phakic IOLs. 61
32032431 2020
41
Early enteral nutrition in patients with severe traumatic brain injury: a propensity score-matched analysis using a nationwide inpatient database in Japan. 61
31751450 2020
42
Clinical Outcomes of Small Incision Lenticule Extraction in Myopia: Study of Vector Parameters and Corneal Aberrations. 61
32037752 2020
43
Limited Colocalization of Microbleeds and Microstructural Changes after Severe Traumatic Brain Injury. 61
31588844 2020
44
Cognitive impairment, clinical symptoms and functional disability in patients emerging from the minimally conscious state. 61
32039868 2020
45
Excessive antibiotics use increased in-hospital mortality in intracerebral hemorrhage patients with stroke-associated infection. 61
32029786 2020
46
Historical perspectives on evolving operational definitions of concussive brain injury: From railway spine to sport-related concussion. 61
31146639 2020
47
Invasive Salmonella Enteritidis infection complicated by bacterial meningitis and vertebral osteomyelitis shortly after influenza A infection in an immunocompetent young adult. 61
31445818 2020
48
New WHO guidelines for treatment of gambiense human African trypanosomiasis including fexinidazole: substantial changes for clinical practice. 61
31879061 2020
49
Hypoglycaemic episodes increase the risk of ventricular arrhythmia and sudden cardiac arrest in patients with type 2 diabetes-A nationwide cohort study. 61
31655001 2020
50
Effect of noninvasive ventilation on intubation risk in prehospital patients with acute cardiogenic pulmonary edema: a retrospective study. 61
31295150 2020

Variations for Ocular Motor Apraxia

Copy number variations for Ocular Motor Apraxia from CNVD:

7
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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