Neuronal Intranuclear Inclusion Disease

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OMIM 53 603472 Orphanet 55 ORPHA2289 MESH via Orphanet 42 C537395 UMLS via Orphanet 70 C1863843

ICD10 via Orphanet 33 G31.0 SNOMED-CT via HPO 65 16110005 563001 76976005 25786006 277843001 52448006 128613002 246545002 313307000 84757009 91175000 85102008 8011004 41581000 56731001 86854008 274521009 111266001 64217002 76916001 274523007 60342002 more UMLS 69 C1863843

NIH Rare Diseases : ⁴⁹ Neuronal intranuclear inclusion disease (NIID) is a slowly progressive, neurodegenerative disease. NIID may affect any part of the nervous system (central, peripheral, and/or autonomic), as well as various organs. Signs and symptoms may begin anywhere from infancy to late adulthood, and can vary from person to person. In most cases, the disease begins in childhood. Symptoms of NIID worsen over time and may include dementia, limb weakness, cerebellar ataxia, dystonia, parkinsonism, seizures, and autonomic dysfunction. Therefore, people with NIID may have impairment of balance, movement, cognition, communication, behavior, and the ability to function independently. In general, limb weakness and ataxia are more common in children with NIID, while dementia is more common in people diagnosed in adulthood. The features of NIID result from the presence of eosinophilic intranuclear inclusions inside neurons and glial cells (abnormal masses of substances in the nuclei of cells of the nervous system). The reason this occurs is not known. Both sporadic and familial cases have been reported. However, specific genes known to cause NIID have not yet been found. Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life. While the disease is ultimately fatal, life expectancy can range significantly, from one year to several decades after the diagnosis. Last updated: 11/6/2017

MalaCards based summary : Neuronal Intranuclear Inclusion Disease, also known as niid, is related to neuronitis and parkinson disease 3, autosomal dominant, and has symptoms including ataxia, seizures and ophthalmoplegia. An important gene associated with Neuronal Intranuclear Inclusion Disease is SUMO1 (Small Ubiquitin-Like Modifier 1), and among its related pathways/superpathways are Neuroscience and Synaptic vesicle cycle. Affiliated tissues include skin, brain and cerebellum, and related phenotypes are behavior/neurological and mortality/aging

OMIM : ⁵³ Neuronal intranuclear inclusion disease (NIID) is characterized pathologically by eosinophilic intranuclear inclusions in neurons of the peripheral, central, and autonomic nervous systems associated with varying degrees of neuronal loss. Symptoms usually begin in childhood but adult-onset cases have also been described. Clinical expression is variable, depending on the sites of maximal neuronal loss, but is usually a multisystem degenerative process of the central nervous system or a visceral neuropathy (summary by Kimber et al., 1998). See the neuronal form of intestinal pseudoobstruction (243180). (603472)

Clinical features from OMIM:

603472

Search Clinical Trials , NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Search GEO for disease gene expression data for Neuronal Intranuclear Inclusion Disease.