MC4DN16
MCID: MTC223
MIFTS: 19

Mitochondrial Complex Iv Deficiency, Nuclear Type 16 (MC4DN16)

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 16 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 16 29 6
Mc4dn16 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
two sibs (family a) and an unrelated patient (patient b) have been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619060) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 16, is also known as mitochondrial complex 4 deficiency, nuclear type 16. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 16 is COX4I1 (Cytochrome C Oxidase Subunit 4I1). Affiliated tissues include bone, and related phenotypes are failure to thrive and frontal bossing

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 16: An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 frontal bossing 31 very rare (1%) HP:0002007
3 developmental regression 31 very rare (1%) HP:0002376
4 delayed skeletal maturation 31 very rare (1%) HP:0002750
5 short stature 31 very rare (1%) HP:0004322
6 myoclonus 31 very rare (1%) HP:0001336
7 increased serum lactate 31 very rare (1%) HP:0002151
8 prominent nasal bridge 31 very rare (1%) HP:0000426
9 poor head control 31 very rare (1%) HP:0002421
10 increased csf lactate 31 very rare (1%) HP:0002490
11 cerebellar atrophy 31 very rare (1%) HP:0001272
12 cerebral atrophy 31 very rare (1%) HP:0002059
13 generalized hypotonia 31 very rare (1%) HP:0001290
14 short 5th finger 31 very rare (1%) HP:0009237
15 short 2nd toe 31 very rare (1%) HP:0001885
16 short 3rd toe 31 very rare (1%) HP:0005643
17 short 5th toe 31 very rare (1%) HP:0011917
18 hypsarrhythmia 31 very rare (1%) HP:0002521
19 short 4th toe 31 very rare (1%) HP:0008093
20 hyperactive patellar reflex 31 very rare (1%) HP:0007083
21 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
22 chromosomal breakage induced by crosslinking agents 31 very rare (1%) HP:0003221
23 epileptic spasm 31 very rare (1%) HP:0011097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor overall growth

Growth Height:
short stature

Laboratory Abnormalities:
mitochondrial respiratory complex iv deficiency in patient tissues
increased lactate (family a)
increased cellular chromosomal breakage (patient b)

Head And Neck Nose:
prominent nasal bridge (patient b)

Skeletal:
delayed bone age (patient b)

Hematology:
red blood cell macrocytosis (patient b)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
hypotonia
normal early development
hypsarrhythmia seen on eeg (family a)
developmental regression (family a)
cerebellar atrophy (family a)
more
Head And Neck Face:
dysmorphic features, nonspecific (patient b)
frontal bossing (patient b)

Abdomen Gastrointestinal:
feeding difficulties (family a)
tube feeding (family a)

Skeletal Hands:
short fifth fingers (patient b)

Clinical features from OMIM®:

619060 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Genetic tests related to Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

# Genetic test Affiliating Genes
1 Mitochondrial Complex 4 Deficiency, Nuclear Type 16 29 COX4I1

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

40
Bone

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

# Title Authors PMID Year
1
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. 6 57
31290619 2019
2
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. 57
28766551 2017

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX4I1 NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr) SNV Pathogenic 834063 GRCh37: 16:85840424-85840424
GRCh38: 16:85806818-85806818

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 16.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 16

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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