MCID: MTC091
MIFTS: 22

Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

Name: Mitochondrial Complex Iii Deficiency, Nuclear Type 2 57 29 13 6 40 73
Mc3dn2 57 12 75
Mitochondrial Complex Iii Deficiency Nuclear Type 2 12
Mitochondrial Complex Iii Deficiency, Nuclear 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
variable age at onset (range late infancy to adulthood)
rapidly progressive episodes
severe neurodegenerative course resulting in a comatose state or death


HPO:

32
mitochondrial complex iii deficiency, nuclear type 2:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

OMIM : 57 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, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). (615157)

MalaCards based summary : Mitochondrial Complex Iii Deficiency, Nuclear Type 2, is also known as mc3dn2, and has symptoms including ataxia, paraparesis, spastic and tremor. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 2 is TTC19 (Tetratricopeptide Repeat Domain 19). Affiliated tissues include brain, liver and skeletal muscle, and related phenotypes are hearing impairment and nystagmus

Disease Ontology : 12 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

UniProtKB/Swiss-Prot : 75 Mitochondrial complex III deficiency, nuclear 2: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.

Related Diseases for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Muscle Soft Tissue:
muscle weakness
muscle atrophy
decreased mitochondrial complex iii activity seen on muscle biopsy

Neurologic Peripheral Nervous System:
axonal degeneration
hyperreflexia (1 patient)

Laboratory Abnormalities:
decreased mitochondrial complex iii activity in muscle

Neurologic Central Nervous System:
ataxia
dysarthria
tremor
hyperreflexia
dysphonia
more
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
anxiety
psychosis
depression
obsessive-compulsive disorder
more
Head And Neck Ears:
hearing loss (1 patient)


Clinical features from OMIM:

615157

Human phenotypes related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 nystagmus 32 HP:0000639
3 psychosis 32 HP:0000709
4 depressivity 32 HP:0000716
5 aggressive behavior 32 HP:0000718
6 obsessive-compulsive behavior 32 HP:0000722
7 hallucinations 32 HP:0000738
8 anxiety 32 HP:0000739
9 dysarthria 32 HP:0001260
10 global developmental delay 32 occasional (7.5%) HP:0001263
11 cerebellar atrophy 32 HP:0001272
12 dysmetria 32 HP:0001310
13 muscle weakness 32 HP:0001324
14 dystonia 32 HP:0001332
15 tremor 32 HP:0001337
16 hyperreflexia 32 occasional (7.5%) HP:0001347
17 dysphonia 32 HP:0001618
18 cerebral atrophy 32 HP:0002059
19 bradykinesia 32 HP:0002067
20 dysdiadochokinesis 32 HP:0002075
21 neurodegeneration 32 HP:0002180
22 apraxia 32 HP:0002186
23 incoordination 32 HP:0002311
24 spastic paraparesis 32 HP:0002313
25 olivopontocerebellar atrophy 32 HP:0002542
26 skeletal muscle atrophy 32 HP:0003202
27 babinski sign 32 occasional (7.5%) HP:0003487
28 axonal degeneration 32 HP:0040078
29 cognitive impairment 32 HP:0100543

UMLS symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:


ataxia, paraparesis, spastic, tremor, muscle weakness, bradykinesia, abnormality of extrapyramidal motor function, dysdiadochokinesis

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Genetic Tests for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Genetic tests related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 29 TTC19

Anatomical Context for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

41
Brain, Liver, Skeletal Muscle

Publications for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency, Nuclear Type 2:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC19 NM_017775.3(TTC19): c.656T> G (p.Leu219Ter) single nucleotide variant Pathogenic rs747166010 GRCh37 Chromosome 17, 15909862: 15909862
2 TTC19 NM_017775.3(TTC19): c.656T> G (p.Leu219Ter) single nucleotide variant Pathogenic rs747166010 GRCh38 Chromosome 17, 16006548: 16006548
3 TTC19 NM_017775.3(TTC19): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907094 GRCh37 Chromosome 17, 15907199: 15907199
4 TTC19 NM_017775.3(TTC19): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic rs387907094 GRCh38 Chromosome 17, 16003885: 16003885
5 TTC19 NM_017775.3(TTC19): c.601_604delGGCT (p.Gly201Metfs) deletion Pathogenic rs794726691 GRCh37 Chromosome 17, 15909807: 15909810
6 TTC19 NM_017775.3(TTC19): c.601_604delGGCT (p.Gly201Metfs) deletion Pathogenic rs794726691 GRCh38 Chromosome 17, 16006493: 16006496
7 TTC19 TTC19, TRP186TER undetermined variant Pathogenic
8 TTC19 TTC19, 4-BP DEL, 964GGCT deletion Pathogenic
9 TTC19 NM_017775.3(TTC19): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs794726692 GRCh37 Chromosome 17, 15928483: 15928483
10 TTC19 NM_017775.3(TTC19): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs794726692 GRCh38 Chromosome 17, 16025169: 16025169
11 TTC19 NM_017775.3(TTC19): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 16025157: 16025157
12 TTC19 NM_017775.3(TTC19): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 15928471: 15928471
13 TTC19 NM_017775.3(TTC19): c.554T> C (p.Leu185Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 16004235: 16004235
14 TTC19 NM_017775.3(TTC19): c.554T> C (p.Leu185Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 15907549: 15907549
15 TTC19 NM_017775.3(TTC19): c.313-4T> C single nucleotide variant Likely benign rs374666326 GRCh37 Chromosome 17, 15905225: 15905225
16 TTC19 NM_017775.3(TTC19): c.313-4T> C single nucleotide variant Likely benign rs374666326 GRCh38 Chromosome 17, 16001911: 16001911

Expression for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency, Nuclear Type 2.

Pathways for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

GO Terms for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Sources for Mitochondrial Complex Iii Deficiency, Nuclear Type 2

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