MC4DN12
MCID: MTC220
MIFTS: 20

Mitochondrial Complex Iv Deficiency, Nuclear Type 12 (MC4DN12)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 12:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 12 57 72
Mc4dn12 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 12 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
severe phenotype
death in infancy or early childhood (in some patients)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 12:
Onset and clinical course death in infancy neonatal death infantile onset death in childhood death in adolescence
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. Affected individuals demonstrate hypotonia with poor head control, profoundly delayed global development with inability to fix and follow, poor overall growth, abnormal spasms or myoclonus, and seizures. Most patients die in the first years of life; those that survive have spastic quadriplegia, feeding difficulties necessitating tube feeding, and profoundly impaired intellectual development with poor or absent communication. More variable features include cortical blindness, nystagmus, scoliosis, and hearing impairment. Brain imaging shows abnormalities consistent with Leigh syndrome (see 256000), as well as cystic cavitation. Laboratory studies show lactic acidosis, increased serum creatine kinase, and decreased levels and activity of mitochondrial respiratory complex IV (summary by Lim et al., 2014). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619055) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 12, is also known as mc4dn12. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 12 is PET100 (PET100 Cytochrome C Oxidase Chaperone). Affiliated tissues include brain, and related phenotypes are clonus and scoliosis

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 12: An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN12 features include poor overall growth, metabolic acidosis, profoundly delayed psychomotor development, seizures, hypotonia, and brain abnormalities. Death may occur in the first years of life. Serum lactate and creatine kinase levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 12:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 clonus 31 very rare (1%) HP:0002169
2 scoliosis 31 very rare (1%) HP:0002650
3 microcephaly 31 very rare (1%) HP:0000252
4 aminoaciduria 31 very rare (1%) HP:0003355
5 spastic tetraplegia 31 very rare (1%) HP:0002510
6 myoclonus 31 very rare (1%) HP:0001336
7 intrauterine growth retardation 31 very rare (1%) HP:0001511
8 elevated serum creatine kinase 31 very rare (1%) HP:0003236
9 increased serum lactate 31 very rare (1%) HP:0002151
10 neonatal hypoglycemia 31 very rare (1%) HP:0001998
11 hypoalbuminemia 31 very rare (1%) HP:0003073
12 prolonged prothrombin time 31 very rare (1%) HP:0008151
13 poor head control 31 very rare (1%) HP:0002421
14 increased csf lactate 31 very rare (1%) HP:0002490
15 lactic acidosis 31 very rare (1%) HP:0003128
16 status epilepticus 31 very rare (1%) HP:0002133
17 metabolic acidosis 31 very rare (1%) HP:0001942
18 small for gestational age 31 very rare (1%) HP:0001518
19 generalized hypotonia 31 very rare (1%) HP:0001290
20 cerebral visual impairment 31 very rare (1%) HP:0100704
21 horizontal nystagmus 31 very rare (1%) HP:0000666
22 bulbar palsy 31 very rare (1%) HP:0001283
23 vertical nystagmus 31 very rare (1%) HP:0010544
24 intraventricular hemorrhage 31 very rare (1%) HP:0030746
25 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
26 failure to thrive 31 HP:0001508
27 feeding difficulties 31 HP:0011968
28 visual fixation instability 31 HP:0025405

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
clonus
myoclonus
absent speech
status epilepticus
more
Skeletal Spine:
scoliosis

Metabolic Features:
hypoglycemia
metabolic acidosis

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Hematology:
coagulopathy

Head And Neck Ears:
hearing impairment (in some patients)

Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Head And Neck Eyes:
nystagmus
visual impairment
cortical blindness
poor visual fixation

Muscle Soft Tissue:
poor head control
hypotonia, severe

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

Head And Neck Head:
small head circumference

Clinical features from OMIM®:

619055 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 12:

40
Brain

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 12:

# Title Authors PMID Year
1
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. 6 57
25293719 2015
2
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 6 57
24462369 2014

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PET100 NM_001171155.2(PET100):c.3G>C (p.Met1Ile) SNV Pathogenic 125441 rs587777839 GRCh37: 19:7694722-7694722
GRCh38: 19:7629836-7629836
2 PET100 NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) SNV Likely pathogenic 128250 rs587779779 GRCh37: 19:7696362-7696362
GRCh38: 19:7631476-7631476

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 12.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 12

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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