MCID: OCL069
MIFTS: 45

Ocular Motor Apraxia

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Ocular Motor Apraxia

MalaCards integrated aliases for Ocular Motor Apraxia:

Name: Ocular Motor Apraxia 53
Coma 53 49 50 28 40
Oculomotor Apraxia, Cogan Type 53 55
Oculomotor Apraxia 69 28
Oculomotor Apraxia, Congenital, Cogan-Type 53
Cogan-Type Congenital Oculomotor Apraxia 13
Saccade Initiation Failure, Congenital 53
Saccade Initiation Failure Congenital 49
Oculomotor Apraxia, Cogan Type; Coma 53
Ocular Motor Apraxia, Cogan Type 55
Oculomotor Apraxia Cogan Type 49
Congenital Oculomotor Apraxia 49
Cogan's Syndrome Type 2 49
Comatose 69

Characteristics:

Orphanet epidemiological data:

55
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
ocular movement dysfunction improves with age


HPO:

31
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 257550
Orphanet 55 ORPHA1125
MESH via Orphanet 42 C537423
UMLS via Orphanet 70 C0543874
ICD10 via Orphanet 33 H51.8
MedGen 39 C0543874
ICD10 32 R40.2
SNOMED-CT via HPO 65 258211005 204958008 193662007

Summaries for Ocular Motor Apraxia

NIH Rare Diseases : 49 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. Last updated: 3/24/2017

MalaCards based summary : Ocular Motor Apraxia, also known as coma, is related to apraxia and hypoglycemic coma, and has symptoms including nephronophthisis, oculomotor apraxia and jerky head movements. An important gene associated with Ocular Motor Apraxia is COMA (Cogan-Type Congential Oculomotor Apraxia). The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney.

OMIM : 53 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 : 40 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 : 50 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 : 72 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 210)
# Related Disease Score Top Affiliating Genes
1 apraxia 29.9 APTX NPHP1
2 hypoglycemic coma 12.3
3 hepatic coma 12.2
4 basedow's coma 12.0
5 viral hepatitis 11.6
6 akinetic mutism 11.2
7 persistent vegetative state 11.2
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.2
9 hemiplegic migraine 11.1
10 hepatic encephalopathy 11.1
11 lysinuric protein intolerance 11.1
12 wernicke-korsakoff syndrome 11.1
13 ornithine transcarbamylase deficiency, hyperammonemia due to 11.1
14 central pontine myelinolysis 11.1
15 metabolic acidosis 11.0
16 malaria 11.0
17 familial hemiplegic migraine 11.0
18 urea cycle disorder 11.0
19 insulinoma 11.0
20 cerebral hypoxia 11.0
21 hypoxia 11.0
22 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.0
23 adrenoleukodystrophy 11.0
24 sleeping sickness 11.0
25 st. louis encephalitis 11.0
26 reye syndrome 11.0
27 marchiafava bignami disease 11.0
28 anoxia 11.0
29 creutzfeldt-jakob disease 10.9
30 3-hydroxy-3-methylglutaryl-coa lyase deficiency 10.9
31 citrullinemia, type ii, adult-onset 10.9
32 hepatitis 10.8
33 n-acetylglutamate synthase deficiency 10.8
34 isovaleric acidemia 10.8
35 maple syrup urine disease 10.8
36 3-methylglutaconic aciduria, type i 10.8
37 methylmalonic aciduria, cblb type 10.8
38 hyperinsulinemic hypoglycemia, familial, 1 10.8
39 microvascular complications of diabetes 1 10.8
40 thiamine metabolism dysfunction syndrome 2 10.8
41 encephalopathy, acute, infection-induced 4 10.8
42 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 10.8
43 la crosse encephalitis 10.8
44 eastern equine encephalitis 10.8
45 japanese encephalitis 10.8
46 west nile encephalitis 10.8
47 von economo's disease 10.8
48 acute disseminated encephalomyelitis 10.8
49 vitamin b12-responsive methylmalonic acidemia 10.8
50 cerebral beriberi 10.8

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:

53
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:

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

UMLS symptoms related to Ocular Motor Apraxia:


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

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 Ubiquinone Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Complement System Proteins Phase 3
7 Vitamins Phase 3
8 Lecithin Nutraceutical 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 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

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 Oculomotor Apraxia 28
2 Coma 28

Anatomical Context for Ocular Motor Apraxia

MalaCards organs/tissues related to Ocular Motor Apraxia:

38
Eye, Brain, Kidney, Cerebellum, Liver

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show top 50) (show all 114)
# Title Authors Year
1
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. ( 29356829 )
2018
2
Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area. ( 29199507 )
2018
3
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
4
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. ( 28552035 )
2017
5
Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. ( 29243230 )
2017
6
Identification of a novel mutation in APTX gene associated with Ataxia-oculomotor apraxia. ( 28652255 )
2017
7
Hot topic: PNKP mutations cause ataxia with oculomotor apraxia type 4. ( 26970421 )
2016
8
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
9
A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. ( 26811093 )
2016
10
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. ( 27473762 )
2016
11
Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report. ( 27054461 )
2016
12
Expanding the ataxia with oculomotor apraxia type 4 phenotype. ( 27066586 )
2016
13
A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. ( 26231220 )
2015
14
Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population. ( 26332941 )
2015
15
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis. ( 25787807 )
2015
16
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. ( 26285866 )
2015
17
Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. ( 25462094 )
2015
18
Oculomotor apraxia in Gaucher disease. ( 25687160 )
2015
19
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. ( 25728773 )
2015
20
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset. ( 25845762 )
2015
21
Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. ( 26541496 )
2015
22
Infantile-onset saccade initiation delay (congenital ocular motor apraxia). ( 25783597 )
2015
23
Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome. ( 25173907 )
2014
24
Do the clinical features in infantile-onset saccade initiation delay (congenital ocular motor apraxia) correlate with brain magnetic resonance imaging findings? ( 24651083 )
2014
25
A case of an African American man with ataxia and oculomotor apraxia 2. ( 25137517 )
2014
26
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. ( 24760770 )
2014
27
Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. ( 23149945 )
2013
28
From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass. ( 23370611 )
2013
29
Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. ( 24183476 )
2013
30
Saccades and eye-head coordination in ataxia with oculomotor apraxia type 2. ( 23475383 )
2013
31
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ( 23683649 )
2013
32
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. ( 22065524 )
2012
33
Autosomal recessive cerebellar ataxias with oculomotor apraxia. ( 21827898 )
2012
34
Cognitive functions in ataxia with oculomotor apraxia type 2. ( 23015802 )
2012
35
SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2. ( 22341623 )
2012
36
Neurological picture. Acquired ocular motor apraxia due to bifrontal haemorrhages. ( 22842204 )
2012
37
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. ( 23111195 )
2012
38
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. ( 23183622 )
2012
39
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. ( 21486904 )
2011
40
Joubert syndrome presenting with motor delay and oculomotor apraxia. ( 22606509 )
2011
41
Gaucher's disease with valvular, myocardial and aortic involvement in a patient with oculomotor apraxia. ( 21220233 )
2011
42
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. ( 21324166 )
2011
43
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. ( 21465257 )
2011
44
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. ( 20687492 )
2010
45
Neurodevelopmental outcomes with congenital ocular motor apraxia. ( 20139297 )
2010
46
Sensory neuronopathy in ataxia with oculomotor apraxia type 2. ( 20869730 )
2010
47
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. ( 20713024 )
2010
48
MRI with fibre tracking in Cogan congenital oculomotor apraxia. ( 20449733 )
2010
49
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. ( 19141356 )
2009
50
Familial congenital oculomotor apraxia: clinical and electro-oculographic features. ( 18703363 )
2009

Variations for Ocular Motor Apraxia

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

GO Terms for Ocular Motor Apraxia

Sources for Ocular Motor Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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