MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: MC3DN2
Number of Symptoms 38
OrphanetNr:
OMIM Id: 615157
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
3
(HPO:0002075) Dysdiadochokinesis 40 / 7739
4
(HPO:0007034) Generalized hyperreflexia 33 / 7739
5
(HPO:0003487) Babinski sign rare [HPO:skoehler] 179 / 7739
6
(HPO:0002067) Bradykinesia 62 / 7739
7
(HPO:0001332) Dystonia 197 / 7739
8
(HPO:0000709) Psychosis 61 / 7739
9
(HPO:0002311) Incoordination 84 / 7739
10
(HPO:0001618) Dysphonia 28 / 7739
11
(HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
12
(HPO:0001251) Ataxia 413 / 7739
13
(HPO:0100543) Cognitive impairment 230 / 7739
14
(HPO:0000739) Anxiety 67 / 7739
15
(HPO:0002267) Exaggerated startle response 42 / 7739
16
(HPO:0002186) Apraxia 22 / 7739
17
(HPO:0002344) Progressive neurologic deterioration 27 / 7739
18
(HPO:0001260) Dysarthria 329 / 7739
19
(HPO:0002313) Spastic paraparesis 33 / 7739
20
(HPO:0000718) Aggressive behavior 109 / 7739
21
(HPO:0001337) Tremor 200 / 7739
22
(HPO:0001310) Dysmetria 76 / 7739
23
(HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
24
(HPO:0000738) Hallucinations 60 / 7739
25
(HPO:0000722) Obsessive-compulsive behavior 35 / 7739
26
(HPO:0001324) Muscle weakness 859 / 7739
27
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
28
(HPO:0040078) Axonal degeneration 10 / 7739
29
(HPO:0002180) Neurodegeneration 31 / 7739
30
(OMIM) Decreased mitochondrial complex III activity seen on muscle biopsy 2 / 7739
31
(HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
32
(OMIM) Axonal degeneration 7 / 7739
33
(HPO:0002059) Cerebral atrophy 171 / 7739
34
(OMIM) Decreased mitochondrial complex III activity in muscle 1 / 7739
35
(HPO:0001272) Cerebellar atrophy 197 / 7739
36
(OMIM) Increased lactate in the brain 1 / 7739
37
(OMIM) Cognitive regression 1 / 7739
38
(OMIM) Necrotic white matter lesions throughout the brain and brainstem 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic ...
Clinical Description OMIM Ghezzi et al. (2011) reported 4 Italian patients with mitochondrial complex III deficiency. Two adult sibs from northeastern Italy had childhood onset of a slowly progressive neurodegenerative disorder. The sister presented at age 5 years with mild mental ...
Molecular genetics OMIM Ghezzi et al. (2011) identified a homozygous truncating mutation in the TTC19 gene (613814.0001) in 2 sibs from northeastern Italy with mitochondrial complex III deficiency. A third unrelated patient from the same region had a similar disease course ...