MC4DN14
MCID: MTC221
MIFTS: 16

Mitochondrial Complex Iv Deficiency, Nuclear Type 14 (MC4DN14)

Categories: Genetic diseases, Metabolic diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 14:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 14 57 72
Mc4dn14 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early childhood
one adult woman has been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 619058
OMIM Phenotypic Series 57 PS220110
MeSH 44 D017237
MedGen 41 CN293397

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV (Ostergaard et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619058) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 14, is also known as mc4dn14. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 14 is COA3 (Cytochrome C Oxidase Assembly Factor 3). Affiliated tissues include skeletal muscle and eye, and related phenotypes are global developmental delay and short stature

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 14: An autosomal recessive mitochondrial disorder with onset in early childhood. MC4DN14 is characterized by developmental delay, cognitive impairment, motor delay, abnormal gait, sensorimotor demyelinating polyneuropathy, exercise intolerance, obesity, and short stature. Serum lactate levels are marginally increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 14:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 short stature 31 very rare (1%) HP:0004322
3 cognitive impairment 31 very rare (1%) HP:0100543
4 obesity 31 very rare (1%) HP:0001513
5 epicanthus 31 very rare (1%) HP:0000286
6 deeply set eye 31 very rare (1%) HP:0000490
7 sensorimotor neuropathy 31 very rare (1%) HP:0007141
8 exercise intolerance 31 very rare (1%) HP:0003546
9 cytochrome c oxidase-negative muscle fibers 31 very rare (1%) HP:0003688
10 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
global developmental delay
abnormal gait
delayed walking
impaired intellectual development

Laboratory Abnormalities:
increased serum lactate
mitochondrial respiratory complex iv deficiency in patient muscle tissue

Muscle Soft Tissue:
exercise intolerance

Neurologic Peripheral Nervous System:
decreased or absent reflexes
sensorimotor demyelinating peripheral neuropathy

Growth Height:
short stature

Skeletal Feet:
pes cavus

Head And Neck Eyes:
epicanthal folds
deep-set eyes

Clinical features from OMIM®:

619058 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 14:

40
Skeletal Muscle, Eye

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 14:

# Title Authors PMID Year
1
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. 57
25604084 2015

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 14.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 14

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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