MCID: OCL069
MIFTS: 39

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 54
Coma 50 51 29 41
Saccade Initiation Failure Congenital 50
Ocular Motor Apraxia, Cogan Type 56
Oculomotor Apraxia, Cogan Type 56
Oculomotor Apraxia Cogan Type 50
Congenital Oculomotor Apraxia 50
Cogan's Syndrome Type 2 50
Oculomotor Apraxia 69
Comatose 69

Characteristics:

Orphanet epidemiological data:

56
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
ocular movement dysfunction improves with age


HPO:

32
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 257550
Orphanet 56 ORPHA1125
MESH via Orphanet 43 C537423
UMLS via Orphanet 70 C0543874
ICD10 via Orphanet 34 H51.8
ICD10 33 R40.2
SNOMED-CT via HPO 65 258211005 193662007

Summaries for Ocular Motor Apraxia

NIH Rare Diseases : 50 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 hypoglycemic coma and hepatic coma, and has symptoms including oculomotor apraxia, jerky head movements and horizontal opticokinetic nystagmus. An important gene associated with Ocular Motor Apraxia is APTX (Aprataxin). The drugs Ethanol and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney.

MedlinePlus : 41 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 : 51 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.

OMIM : 54
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)

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 223)
id Related Disease Score Top Affiliating Genes
1 hypoglycemic coma 12.2
2 hepatic coma 12.1
3 basedow's coma 11.8
4 viral hepatitis 11.5
5 akinetic mutism 11.1
6 persistent vegetative state 11.1
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.1
8 hemiplegic migraine 11.0
9 ornithine transcarbamylase deficiency 11.0
10 hepatic encephalopathy 11.0
11 lysinuric protein intolerance 11.0
12 wernicke-korsakoff syndrome 11.0
13 central pontine myelinolysis 11.0
14 metabolic acidosis 10.9
15 malaria 10.9
16 familial hemiplegic migraine 10.9
17 urea cycle disorder 10.9
18 cerebral hypoxia 10.8
19 hypoxia 10.8
20 insulinoma 10.8
21 adrenoleukodystrophy 10.8
22 sleeping sickness 10.8
23 anoxia 10.8
24 reye syndrome 10.8
25 marchiafava bignami disease 10.8
26 st. louis encephalitis 10.8
27 hmg-coa lyase deficiency 10.7
28 citrullinemia, adult-onset type ii 10.7
29 creutzfeldt-jakob disease 10.7
30 hepatitis 10.7
31 postinfectious encephalomyelitis 10.7
32 west nile encephalitis 10.7
33 la crosse encephalitis 10.7
34 cerebral beriberi 10.7
35 von economo's disease 10.7
36 3-methylglutaconic aciduria, type i 10.7
37 isovaleric acidemia 10.7
38 eastern equine encephalitis 10.7
39 japanese encephalitis 10.7
40 thiamine metabolism dysfunction syndrome 2 10.7
41 n-acetylglutamate synthase deficiency 10.7
42 methylmalonic acidemia 10.7
43 acute disseminated encephalomyelitis 10.7
44 encephalopathy, acute, infection-induced, 4 10.7
45 vitamin b12-responsive methylmalonic acidemia 10.7
46 maple syrup urine disease, type ii 10.7
47 immune-mediated encephalomyelitis 10.7
48 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 10.7
49 korsakoff's amnesic syndrome 10.7
50 apraxia 10.6

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, 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:

54

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

UMLS symptoms related to Ocular Motor Apraxia:


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

Drugs & Therapeutics for Ocular Motor Apraxia

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

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Glycerol Approved, Investigational Phase 3 56-81-5 753
3 Complement System Proteins Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Ubiquinone Phase 3
7 Vitamins Phase 3
8
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
9 Lecithin Nutraceutical Phase 3
10 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 3
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
4 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Active, not recruiting NCT03120013

Search NIH Clinical Center for Ocular Motor Apraxia

Genetic Tests for Ocular Motor Apraxia

Genetic tests related to Ocular Motor Apraxia:

id Genetic test Affiliating Genes
1 Coma 29

Anatomical Context for Ocular Motor Apraxia

MalaCards organs/tissues related to Ocular Motor Apraxia:

39
Eye, Brain, Kidney, Cerebellum, Liver

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show all 34)
id Title Authors Year
1
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
2
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. ( 27473762 )
2016
3
Infantile-onset saccade initiation delay (congenital ocular motor apraxia). ( 25783597 )
2015
4
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset. ( 25845762 )
2015
5
Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome. ( 25173907 )
2014
6
Do the clinical features in infantile-onset saccade initiation delay (congenital ocular motor apraxia) correlate with brain magnetic resonance imaging findings? ( 24651083 )
2014
7
From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass. ( 23370611 )
2013
8
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ( 23683649 )
2013
9
Neurological picture. Acquired ocular motor apraxia due to bifrontal haemorrhages. ( 22842204 )
2012
10
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. ( 21486904 )
2011
11
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. ( 20687492 )
2010
12
Neurodevelopmental outcomes with congenital ocular motor apraxia. ( 20139297 )
2010
13
Congenital ocular motor apraxia. ( 28221635 )
2008
14
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. ( 17917453 )
2008
15
Congenital ocular motor apraxia. ( 18320523 )
2008
16
Acquired ocular motor apraxia after aortic surgery. ( 18427605 )
2007
17
Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis. ( 17336010 )
2007
18
Ocular motor apraxia after sequential bilateral striatal infarctions. ( 20396497 )
2006
19
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. ( 16961074 )
2006
20
Saccade initiation in ocular motor apraxia. ( 16619125 )
2006
21
Neurodevelopmental implications of ocular motor apraxia. ( 16288671 )
2005
22
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins. ( 15174536 )
2004
23
Acquired ocular motor apraxia from bilateral frontoparietal infarcts associated with Takayasu arteritis. ( 15489414 )
2004
24
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. ( 15276230 )
2004
25
Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia. ( 12828404 )
2003
26
Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. ( 14623737 )
2003
27
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. ( 12196655 )
2002
28
Familial congenital ocular motor apraxia. ( 12173672 )
2002
29
Ocular motor apraxia and ataxia-telangiectasia. ( 11493182 )
2001
30
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. ( 11586299 )
2001
31
Recessive ataxia with ocular motor apraxia. ( 11176953 )
2001
32
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ( 10839884 )
2000
33
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. ( 7891378 )
1994
34
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. ( 3239952 )
1988

Variations for Ocular Motor Apraxia

Copy number variations for Ocular Motor Apraxia from CNVD:

7
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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