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Diseases

Olivopontocerebellar Atrophies

olivopontocerebellar atrophies

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Olivopontocerebellar Atrophies
Standard Disease Name
olivopontocerebellar atrophies
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D009849
OMIM ID
MTHU015558|MTHU016549
UMLS ID
C0028968
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.|MSH2017_2016_08_12:A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)|HPO2016_07_04:Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. [HPO:probinson]
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
03
CRH
corticotropin releasing hormone
corticotropin releasing hormone
04
ERCC6
ERCC excision repair 6, chromatin remodeling factor
ERCC excision repair 6, chromatin remodeling factor
05
GRIA2
glutamate ionotropic receptor AMPA type subunit 2
glutamate ionotropic receptor AMPA type subunit 2
07
SMN1
survival of motor neuron 1, telomeric
survival of motor neuron 1, telomeric