Mitochondrial complex III deficiency, nuclear type 2

Preferred Label : Mitochondrial complex III deficiency, nuclear type 2;

Symbol : MC3DN2;

CISMeF acronym : MC3DN2;

Type : Phenotype, molecular basis known;

Description : Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2013; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tetratricopeptide repeat domain 19 gene (TTC19, 613814.0001);

Laboratory abnormalities : Decreased mitochondrial complex III activity in muscle;

Prefixed ID : #615157;

Details

Origin ID

615157;

UMLS CUI

C3554605;

Currated CISMeF NLP mapping
- mitochondrial complex III deficiency nuclear type 2 [DO Concept]
DO Cross reference
- mitochondrial complex III deficiency nuclear type 2 [DO Concept]
Genes related to phenotype
- Tetratricopeptide repeat domain-containing protein 19 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Apraxia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cognitive impairment [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphonia [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Hallucinations [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Incoordination [HPO term]
- Muscle weakness [HPO term]
- Neurodegeneration [HPO term]
- Nystagmus [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Psychosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic paraparesis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Isolated complex III deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mitochondrial complex III deficiency nuclear type 2 [DO Concept]

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