COMA
MCID: OCL069
MIFTS: 55

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 57
Coma 57 53 54 29 43
Oculomotor Apraxia, Cogan Type 57 59
Oculomotor Apraxia, Congenital, Cogan-Type 57
Cogan-Type Congenital Oculomotor Apraxia 13
Saccade Initiation Failure, Congenital 57
Saccade Initiation Failure Congenital 53
Oculomotor Apraxia, Cogan Type; Coma 57
Ocular Motor Apraxia, Cogan Type 59
Oculomotor Apraxia Cogan Type 53
Congenital Oculomotor Apraxia 53
Cogan's Syndrome Type 2 53
Oculomotor Apraxia 73
Comatose 73

Characteristics:

Orphanet epidemiological data:

59
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
ocular movement dysfunction improves with age


HPO:

32
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 257550
Orphanet 59 ORPHA1125
MESH via Orphanet 45 C537423
UMLS via Orphanet 74 C0543874
ICD10 via Orphanet 34 H51.8
MedGen 42 C0543874
ICD10 33 R40.2
SNOMED-CT via HPO 69 258211005 204958008 193662007

Summaries for Ocular Motor Apraxia

NIH Rare Diseases : 53 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 kidney, 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)

MedlinePlus : 43 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 : 54 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 : 76 Oculomotor apraxia (OMA), also known as Cogan ocular motor apraxia or saccadic initiation failure (SIF) ... 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 387)
# Related Disease Score Top Affiliating Genes
1 apraxia 31.0 NPHP1 ATM APTX
2 ataxia-telangiectasia 30.0 ATM APTX
3 aceruloplasminemia 29.0 ATM APTX
4 hypoglycemic coma 12.6
5 hepatic coma 12.4
6 basedow's coma 12.1
7 viral hepatitis 11.6
8 akinetic mutism 11.4
9 persistent vegetative state 11.4
10 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
11 hepatic encephalopathy 11.3
12 lysinuric protein intolerance 11.3
13 wernicke-korsakoff syndrome 11.3
14 hyperinsulinemic hypoglycemia, familial, 1 11.2
15 ornithine transcarbamylase deficiency, hyperammonemia due to 11.2
16 central pontine myelinolysis 11.2
17 metabolic acidosis 11.2
18 malaria 11.2
19 hemiplegic migraine 11.2
20 familial hemiplegic migraine 11.1
21 reye syndrome 11.1
22 insulinoma 11.1
23 hypophosphatemia 11.1
24 urea cycle disorder 11.1
25 brain edema 11.1
26 hypoxia 11.1
27 cerebral hypoxia 11.1
28 acyl-coa dehydrogenase, medium-chain, deficiency of 11.1
29 citrullinemia, classic 11.1
30 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.1
31 adrenoleukodystrophy 11.1
32 sleeping sickness 11.1
33 st. louis encephalitis 11.1
34 eclampsia 11.1
35 marchiafava bignami disease 11.1
36 creutzfeldt-jakob disease 11.1
37 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.0
38 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.0
39 citrullinemia, type ii, adult-onset 11.0
40 n-acetylglutamate synthase deficiency 10.9
41 isovaleric acidemia 10.9
42 maple syrup urine disease 10.9
43 3-methylglutaconic aciduria, type i 10.9
44 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.9
45 microvascular complications of diabetes 1 10.9
46 thiamine metabolism dysfunction syndrome 2 10.9
47 encephalopathy, acute, infection-induced 4 10.9
48 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 10.9
49 la crosse encephalitis 10.9
50 eastern equine encephalitis 10.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ocular Motor Apraxia:

32
# Description HPO Frequency HPO Source Accession
1 nephronophthisis 32 HP:0000090
2 oculomotor apraxia 32 HP:0000657
3 jerky head movements 32 HP:0006961
4 horizontal opticokinetic nystagmus 32 HP:0008026

UMLS symptoms related to Ocular Motor Apraxia:


seizures, tremor, back pain, ophthalmoparesis, pain, lethargy, headache, syncope, excessive daytime somnolence, chronic pain, sciatica, dizziness, vertigo/dizziness, sleeplessness, central nervous system signs and symptoms, symptoms, clouded consciousness, sluggishness, 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 9)
# 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 Complement System Proteins Phase 3
4 Trace Elements Phase 3
5 Micronutrients Phase 3
6 Vitamins Phase 3
7 Ubiquinone Phase 3
8 Lecithin Phase 3
9 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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
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

Genetic tests related to Ocular Motor Apraxia:

# Genetic test Affiliating Genes
1 Coma 29

Anatomical Context for Ocular Motor Apraxia

MalaCards organs/tissues related to Ocular Motor Apraxia:

41
Brain, Eye, Kidney, Liver, Testes, Cerebellum, Bone

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 867)
# Title Authors Year
1
Pearls &amp;amp; Oy-sters: Ocular motor apraxia as essential differential diagnosis to supranuclear gaze palsy: Eyes up. ( 29507134 )
2018
2
Diagnostic Accuracy of Procalcitonin for Early Aspiration Pneumonia in Critically Ill Patients with Coma: A Prospective Study. ( 30267280 )
2018
3
Coma, Seizures, Atrioventricular Block, and Hypoglycemia in an ADB-FUBINACA Body-Packer. ( 30297193 )
2018
4
EEG of patients in coma after traumatic brain injury reflects physical parameters of auditory stimulation but not its emotional content. ( 30521421 )
2018
5
The effectiveness of non-invasive brain stimulation on arousal and alertness in patients in coma or persistent vegetative state after traumatic brain injury: Protocol of systematic review and network meta-analysis. ( 30212977 )
2018
6
The neuron specific enolase (NSE) ratio offers benefits over absolute value thresholds in post-cardiac arrest coma prognosis. ( 30145080 )
2018
7
Unresponsive wakefulness or coma after cardiac arrest-A long-term follow-up study. ( 29990580 )
2018
8
Programmed Cell Death Ligand 1-Induced Coma From Diffuse Cerebritis. ( 29016224 )
2018
9
Disturbed Consciousness and Coma: Diagnosis and Management of Intracranial Hypotension Caused by a Spinal Cerebrospinal Fluid Leak. ( 30292664 )
2018
10
Myxoedema coma in a 2-year-old girl with untreated congenital hypothyroidism: Case report and literature review. ( 30548708 )
2018
11
Case Report: Failure of Therapeutic Coma in Rabies Encephalitis. ( 29141755 )
2018
12
The inter-rater reliability and prognostic value of coma scales in Nepali children with acute encephalitis syndrome. ( 29143568 )
2018
13
Neurocritical Care Management of Hepatic Encephalopathy and Coma in Liver Failure. ( 30485883 )
2018
14
Iatrogenic coma: ceftriaxone-associated encephalopathy. ( 29678822 )
2018
15
Corrigendum to "Coma and Stroke Following Surgical Treatment of Unruptured Intracranial Aneurysm: An American College of Surgeons National Surgical Quality Improvement Program Study" [World Neurosurgery (2016) 91:272-278]. ( 29288060 )
2018
16
Intracranial Hypotension with Coma: Microsurgical Repair of a Spinal Ventral Dural Tear and Drainage of Subdural Hematoma with Intracranial Pressure Monitoring. ( 30055363 )
2018
17
Pentobarbital-induced lactic acidosis following status epilepticus barbiturate coma. ( 29472424 )
2018
18
Case of myxedema coma induced by lithium carbonate in a patient with schizophrenia. ( 29232051 )
2018
19
Critical Consideration of Myxedema Coma in the Postoperative Setting: A Case Report. ( 30169383 )
2018
20
Postoperative myxedema coma in patients undergoing major surgery: Case series. ( 30454972 )
2018
21
Prolonged coma in a scrub typhus patient. ( 30248463 )
2018
22
Variability in pharmacologically-induced coma for treatment of refractory status epilepticus. ( 30379935 )
2018
23
High dose phenobarbitone coma in pediatric refractory status epilepticus; a retrospective case record analysis, a proposed protocol and review of literature. ( 29306558 )
2018
24
Successful emergent endovascular mechanical thrombectomy for pediatric and young adult cerebral venous sinus thrombosis in coma. ( 30404063 )
2018
25
Surgical Thrombectomy Combined with Bilateral Decompressive Craniectomy in a Life-Threatening Case of Coma from Cerebral Venous Sinus Thrombosis: Case Report and Literature Review. ( 30253994 )
2018
26
Analysis of incidence of traumatic brain injury in blunt trauma patients with Glasgow Coma Scale of 12 or less. ( 29776836 )
2018
27
The Cost of ICU Delirium and Coma in the Intensive Care Unit Patient. ( 30179988 )
2018
28
Validation of Korean Version of Coma Recovery Scale-Revised (K-CRSR). ( 30180522 )
2018
29
Calculated decisions: Glasgow Coma Scale ( 30183239 )
2018
30
Study of Simplified Coma Scales: Acute Stroke Patients with Tracheal Intubation. ( 30203788 )
2018
31
EEG Reactivity Evaluation Practices for Adult and Pediatric Hypoxic-Ischemic Coma Prognostication in North America. ( 30216207 )
2018
32
A proposal for prospective evaluation of elderly subjects with low Glasgow Coma Scale. ( 30224270 )
2018
33
Preoperative STOP-BANG Scores and Postoperative Delirium and Coma in Thoracic Surgery Patients. ( 30244705 )
2018
34
Somatosensory and auditory deviance detection for outcome prediction during postanoxic coma. ( 30250859 )
2018
35
Who improves from coma, how do they improve, and then what? ( 30287905 )
2018
36
Seasonal Change in Distribution and Heat Coma Temperature of Oceanic Skaters, Halobates (Insecta, Heteroptera: Gerridae). ( 30301165 )
2018
37
Late Awakening in Survivors of Postanoxic Coma: Early Neurophysiologic Predictors and Association With ICU and Long-Term Neurologic Recovery. ( 30303838 )
2018
38
The use of SAPS 3, SOFA, and Glasgow Coma Scale to predict mortality in patients with subarachnoid hemorrhage: A retrospective cohort study. ( 30313090 )
2018
39
Retrospective characterization of coma and stupor in dogs and cats presenting to a multicenter out-of-hours service (2012-2015): 386 animals. ( 30325574 )
2018
40
Multimodal General Anesthesia: A Principled Approach to Producing the Drug-Induced, Reversible Coma of Anesthesia. ( 30335656 )
2018
41
An attempt to select non-genetic variation in resistance to starvation and reduced chill coma recovery time in Drosophila melanogaster. ( 30352823 )
2018
42
The Reverse Shock Index Multiplied by Glasgow Coma Scale Score (rSIG) and Prediction of Mortality Outcome in Adult Trauma Patients: A Cross-Sectional Analysis Based on Registered Trauma Data. ( 30355971 )
2018
43
A Machine Learning Framework for Automatic and Continuous MMN Detection with Preliminary Results for Coma Outcome Prediction. ( 30369457 )
2018
44
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 )
2018
45
A Russian validation study of the Coma Recovery Scale-Revised (CRS-R). ( 30388893 )
2018
46
Pituitary tuberculosis presented with pituitary coma. ( 30430535 )
2018
47
Prolonged coma resulting from massive levothyroxine overdose and the utility of N-terminal prohormone brain natriuretic peptide (NT-proBNP). ( 30484711 )
2018
48
Loss of ion homeostasis is not the cause of chill coma or impaired dispersal in false codling moth Thaumatotibia leucotreta (Lepidoptera: Tortricidae). ( 30502471 )
2018
49
Short-term Effect of Ambient Air Pollution on Emergency Department Visits for Diabetic Coma in Seoul, Korea. ( 30514056 )
2018
50
Coma and Brain Death. ( 30516602 )
2018

Variations for Ocular Motor Apraxia

ClinVar genetic disease variations for Ocular Motor Apraxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh37 Chromosome 11, 108115539: 108115539
2 ATM NM_000051.3(ATM): c.687delA (p.Asn230Ilefs) deletion Pathogenic rs1057518965 GRCh38 Chromosome 11, 108244812: 108244812
3 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh37 Chromosome 3, 47888040: 47888040
4 DHX30 NM_138615.2(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 GRCh38 Chromosome 3, 47846550: 47846550
5 TGM6 NM_198994.2(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 GRCh38 Chromosome 20, 2394520: 2394520
6 TGM6 NM_198994.2(TGM6): c.76C> T (p.Pro26Ser) single nucleotide variant Uncertain significance rs766248910 GRCh37 Chromosome 20, 2375166: 2375166

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....