MCID: OCL041
MIFTS: 24

Oculomotor Apraxia Cogan Type malady

Rare diseases, Eye diseases categories

Summaries for Oculomotor Apraxia Cogan Type

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NINDS:44 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.

MalaCards based summary: Oculomotor Apraxia Cogan Type, also known as coma, is related to hepatitis and hepatic coma. Affiliated tissues include eye and brain.

NIH Rare Diseases:43 Oculomotor apraxia cogan type is a very rare inherited eye condition characterized by a defect in side-to-side (horizontal) eye movements. when affected infants rotate their heads to the side to look at an object, their eyes will lag and then move in the opposite direction. to compensate for this, these infants will sharply jerk their heads past the desired object in effort to bring the eyes to a position where they can view the object. this condition can also be associated with mild developmental delay and speech difficulties. symptoms usually improve throughout the first and second decades of life. the specific cause and inheritance pattern is unknown. around 50 cases have been described in the medical literature. last updated: 4/22/2011

MedlinePlus:34 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

Aliases & Classifications for Oculomotor Apraxia Cogan Type

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Sources:
43NIH Rare Diseases, 44NINDS, 49Orphanet, 34MedlinePlus, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
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Oculomotor Apraxia Cogan Type, Aliases & Descriptions:

Name: Oculomotor Apraxia Cogan Type 43
Coma 43 44 34
Ocular Motor Apraxia, Cogan Type 43 49
Oculomotor Apraxia, Cogan Type 43 49
Saccade Initiation Failure Congenital 43
 
Oculovestibuloauditory Syndrome 62
Congenital Oculomotor Apraxia 43
Cogan's Syndrome Type 2 43
Comatose 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
ocular motor apraxia, cogan type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet49 1125
MESH via Orphanet36 C537423
ICD10 via Orphanet28 H51.8
UMLS via Orphanet63 C0543874
ICD1027 R40.2

Related Diseases for Oculomotor Apraxia Cogan Type

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Graphical network of the top 20 diseases related to Oculomotor Apraxia Cogan Type:



Diseases related to oculomotor apraxia cogan type

Symptoms for Oculomotor Apraxia Cogan Type

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Drugs & Therapeutics for Oculomotor Apraxia Cogan Type

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Drug clinical trials:

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Genetic Tests for Oculomotor Apraxia Cogan Type

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Anatomical Context for Oculomotor Apraxia Cogan Type

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MalaCards organs/tissues related to Oculomotor Apraxia Cogan Type:

33
Eye, Brain

Animal Models for Oculomotor Apraxia Cogan Type or affiliated genes

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Publications for Oculomotor Apraxia Cogan Type

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Variations for Oculomotor Apraxia Cogan Type

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Expression for genes affiliated with Oculomotor Apraxia Cogan Type

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Search GEO for disease gene expression data for Oculomotor Apraxia Cogan Type.

Pathways for genes affiliated with Oculomotor Apraxia Cogan Type

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Compounds for genes affiliated with Oculomotor Apraxia Cogan Type

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GO Terms for genes affiliated with Oculomotor Apraxia Cogan Type

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Products for genes affiliated with Oculomotor Apraxia Cogan Type

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  • Antibodies
  • Proteins
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  • Antibodies
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Sources for Oculomotor Apraxia Cogan Type

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet