MC4DN11
MCID: MTC219
MIFTS: 18

Mitochondrial Complex Iv Deficiency, Nuclear Type 11 (MC4DN11)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 11:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 11 57 72
Mc4dn11 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 11 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in childhood or adolescence
two unrelated families have been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 11:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 11 (MC4DN11) is an autosomal recessive metabolic disorder characterized by the onset of neuromuscular symptoms in childhood or adolescence. Affected individuals have hypotonia and walking difficulties that slowly progress to cerebellar ataxia, often with tremor, dystonia, choreoathetosis, and/or dysarthria. Sensory axonal neuropathy and cerebellar atrophy may also be present. Some patients have mild motor or speech delay and poor overall growth, but cognitive function is normal. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Doss et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619054) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 11, is also known as mc4dn11. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 11 is COX20 (Cytochrome C Oxidase Assembly Factor COX20). Affiliated tissues include brain, and related phenotypes are ataxia and dysarthria

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 11: An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 11:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 dysarthria 31 very rare (1%) HP:0001260
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 increased serum lactate 31 very rare (1%) HP:0002151
5 babinski sign 31 very rare (1%) HP:0003487
6 increased csf lactate 31 very rare (1%) HP:0002490
7 torticollis 31 very rare (1%) HP:0000473
8 choreoathetosis 31 very rare (1%) HP:0001266
9 small for gestational age 31 very rare (1%) HP:0001518
10 cerebellar vermis atrophy 31 very rare (1%) HP:0006855
11 frequent falls 31 very rare (1%) HP:0002359
12 limb dystonia 31 very rare (1%) HP:0002451
13 foot dorsiflexor weakness 31 very rare (1%) HP:0009027
14 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
15 hypotonia 31 very rare (1%) HP:0001252
16 elevated serum creatine kinase 31 HP:0003236
17 sensory axonal neuropathy 31 HP:0003390
18 dilated fourth ventricle 31 HP:0002198

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
tremor
dystonia
choreoathetosis
cerebellar ataxia
gait difficulties
more
Head And Neck Neck:
torticollis

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased serum and csf lactate
mitochondrial respiratory complex iv deficiency in patient tissues

Growth Height:
short stature

Neurologic Peripheral Nervous System:
sensory axonal neuropathy
foot drop

Growth Other:
poor overall growth

Clinical features from OMIM®:

619054 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 11:

40
Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 11:

# Title Authors PMID Year
1
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. 6 57
24202787 2014
2
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. 57 6
23125284 2013

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPU-AS1 , COX20 NM_198076.6(COX20):c.154A>C (p.Thr52Pro) SNV Pathogenic 55889 rs587777004 GRCh37: 1:245005357-245005357
GRCh38: 1:244842055-244842055

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 11.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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