MC4DN21
MCID: MTC228
MIFTS: 17

Mitochondrial Complex Iv Deficiency, Nuclear Type 21 (MC4DN21)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 21:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 21 57 72
Mc4dn21 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 21 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
progressive disorder
one consanguineous pakistani family has been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 21:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 21 (MC4DN21) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals present with congenital lactic acidosis and later show global developmental delay with delayed speech and learning disabilities. Additional features include motor dysfunction manifest as spasticity, dystonia, and pyramidal tract signs. Ataxia, peripheral neuropathy, and seizures may also occur. Brain imaging shows T2-weighted hyperintensities in subcortical regions, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (Pitceathly et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619065) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 21, is also known as mc4dn21. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 21 is NDUFA4 (NDUFA4 Mitochondrial Complex Associated). Affiliated tissues include brain, and related phenotypes are ataxia and delayed speech and language development

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 21: An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN21 is characterized by congenital lactic acidosis, encephalopathy, global developmental delay, delayed speech, motor dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy, and seizures may also occur. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 21:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 myoclonus 31 very rare (1%) HP:0001336
4 failure to thrive in infancy 31 very rare (1%) HP:0001531
5 motor delay 31 very rare (1%) HP:0001270
6 dystonia 31 very rare (1%) HP:0001332
7 increased csf lactate 31 very rare (1%) HP:0002490
8 lactic acidosis 31 very rare (1%) HP:0003128
9 increased intramyocellular lipid droplets 31 very rare (1%) HP:0012240
10 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
11 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
12 short stature 31 HP:0004322
13 babinski sign 31 HP:0003487
14 spastic diplegia 31 HP:0001264
15 increased variability in muscle fiber diameter 31 HP:0003557
16 brisk reflexes 31 HP:0001348
17 decreased activity of mitochondrial complex iv 31 HP:0008347
18 increased csf alanine concentration 31 HP:0500233

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
ataxia
global developmental delay
dystonia
unsteady gait
more
Neurologic Peripheral Nervous System:
axonal peripheral neuropathy

Laboratory Abnormalities:
mitochondrial respiratory complex iv deficiency in patient tissues

Metabolic Features:
lactic acidosis, congenital

Clinical features from OMIM®:

619065 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 21:

40
Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 21:

# Title Authors PMID Year
1
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. 57
23746447 2013

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFA4 NM_002489.4(NDUFA4):c.42+1G>C SNV Pathogenic 977513 GRCh37: 7:10979642-10979642
GRCh38: 7:10940015-10940015

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 21.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 21

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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