Neuronal intranuclear inclusion disease

Preferred Label : Neuronal intranuclear inclusion disease;

Symbol : NIID;

CISMeF acronym : NIID;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (GGC)n in the NOTCH2 N-terminal-like C gene (NOTCH2NLC, 618025.0001);

Laboratory abnormalities : Eosinophilic intranuclear inclusions in various cells, including adipocytes, muscle cells, Schwann cells, sweat gland cells, and vascular smooth muscle cells; Inclusions stain positively for ubiquitin and p62 (SQSTM1);

Prefixed ID : #603472;

Details

Origin ID

603472;

UMLS CUI

C1863843;

Automatic exact mappings (from CISMeF team)
- Neuronal intranuclear inclusion disease [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Neuronal Intranuclear Inclusion Disease [NCIt concept]
- Neuronal intranuclear inclusion disease [ICD-11 More detail]
- Neuronal intranuclear inclusion disease [MeSH concept]
- Neuronal intranuclear inclusion disease [ORDO Disease]
- Neuronal intranuclear inclusion disease (disorder) [SNOMED CT concept]
- neuronal intranuclear inclusion disease [MeSH Supplementary Concept]
Genes related to phenotype
- Notch2 n-terminal-like C [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- CSF pleocytosis [HPO term]
- Cognitive impairment [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Episodic vomiting [HPO term]
- Gait disturbance [HPO term]
- Hyporeflexia [HPO term]
- Increased CSF protein [HPO term]
- Leukoencephalopathy [HPO term]
- Loss of consciousness [HPO term]
- Miosis [HPO term]
- Muscle weakness [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Somatic sensory dysfunction [HPO term]
- Syncope [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Neuronal intranuclear inclusion disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronal Intranuclear Inclusion Disease [NCIt concept]
- Neuronal intranuclear inclusion disease [ORDO Disease]
- Neuronal intranuclear inclusion disease [MeSH concept]
- Neuronal intranuclear inclusion disease [ICD-11 More detail]
- Neuronal intranuclear inclusion disease [MedDRA Preferred Term]
- Neuronal intranuclear inclusion disease (disorder) [SNOMED CT concept]
- neuronal intranuclear inclusion disease [MeSH Supplementary Concept]

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