MC4DN15
MCID: MTC222
MIFTS: 18

Mitochondrial Complex Iv Deficiency, Nuclear Type 15 (MC4DN15)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 15:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 15 57 72
Mc4dn15 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
onset of seizures at 8 years
one patient has been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 15:
Inheritance autosomal recessive inheritance
Onset and clinical course death in adolescence


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 15 (MC4DN15) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show global developmental delay, poor feeding, short stature with microcephaly, proximal muscle weakness, and distal spasticity. Other manifestations include scoliosis, primary pulmonary hypertension, childhood-onset refractory seizures, and inability to walk. Brain imaging shows features consistent with Leigh syndrome (see 256000) and enlarged ventricles. Laboratory studies show increased serum and CSF lactate, as well as decreased levels and activity of mitochondrial respiratory complex IV (summary by Hallmann et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619059) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 15, is also known as mc4dn15. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 15 is COX8A (Cytochrome C Oxidase Subunit 8A). Affiliated tissues include brain and eye, and related phenotypes are spasticity and scoliosis

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 15: An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN15 is characterized by global developmental delay, poor feeding, metabolic acidosis, short stature, microcephaly, proximal muscle weakness, and distal spasticity. Additional manifestations include scoliosis, primary pulmonary hypertension, refractory seizures, and inability to walk. Serum and CSF 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 15

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 15:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 scoliosis 31 very rare (1%) HP:0002650
3 global developmental delay 31 very rare (1%) HP:0001263
4 microcephaly 31 very rare (1%) HP:0000252
5 short stature 31 very rare (1%) HP:0004322
6 deeply set eye 31 very rare (1%) HP:0000490
7 ventriculomegaly 31 very rare (1%) HP:0002119
8 increased serum lactate 31 very rare (1%) HP:0002151
9 hip dislocation 31 very rare (1%) HP:0002827
10 sepsis 31 very rare (1%) HP:0100806
11 hyporeflexia 31 very rare (1%) HP:0001265
12 pulmonary arterial hypertension 31 very rare (1%) HP:0002092
13 increased csf lactate 31 very rare (1%) HP:0002490
14 lactic acidosis 31 very rare (1%) HP:0003128
15 pigmentary retinopathy 31 very rare (1%) HP:0000580
16 hyperalaninemia 31 very rare (1%) HP:0003348
17 brain atrophy 31 very rare (1%) HP:0012444
18 atonic seizure 31 very rare (1%) HP:0010819
19 hyperglycinemia 31 very rare (1%) HP:0002154
20 nasogastric tube feeding in infancy 31 very rare (1%) HP:0011470
21 myoclonic seizure 31 very rare (1%) HP:0032794
22 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Symptoms via clinical synopsis from OMIM®:

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

Neurologic Central Nervous System:
global developmental delay
inability to walk
enlarged ventricles
seizures, refractory
eeg abnormalities
more
Growth Height:
short stature

Metabolic Features:
lactic acidosis
metabolic acidosis

Head And Neck Eyes:
pigmentary retinopathy
enophthalmos

Cardiovascular Vascular:
primary pulmonary hypertension

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

Neurologic Peripheral Nervous System:
decreased reflexes

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Head:
microcephaly

Skeletal Pelvis:
hip dislocation

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Muscle Soft Tissue:
hypotonia
muscle weakness, proximal

Skeletal Feet:
pes planovalgus

Cardiovascular Heart:
cardiorespiratory failure during metabolic crises

Clinical features from OMIM®:

619059 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 15:

40
Brain, Eye

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 15:

# Title Authors PMID Year
1
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. 57
26685157 2016

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 15.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 15

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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