MC4DN19
MCID: MTC226
MIFTS: 17

Mitochondrial Complex Iv Deficiency, Nuclear Type 19 (MC4DN19)

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

MalaCards integrated aliases for Mitochondrial Complex Iv Deficiency, Nuclear Type 19:

Name: Mitochondrial Complex Iv Deficiency, Nuclear Type 19 57 72
Mc4dn19 57 72
Mitochondrial Complex 4 Deficiency, Nuclear Type 19 6

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy or early childhood
one consanguineous moroccan family has been reported (last curated october 2020)


HPO:

31
mitochondrial complex iv deficiency, nuclear type 19:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:



External Ids:

OMIM® 57 619063
OMIM Phenotypic Series 57 PS220110
MeSH 44 D017237
MedGen 41 CN293388

Summaries for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

OMIM® : 57 Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (Renkema et al., 2017). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. (619063) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Iv Deficiency, Nuclear Type 19, is also known as mc4dn19. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 19 is PET117 (PET117 Cytochrome C Oxidase Chaperone). Affiliated tissues include medulla oblongata, and related phenotypes are developmental regression and recurrent respiratory infections

UniProtKB/Swiss-Prot : 72 Mitochondrial complex IV deficiency, nuclear type 19: An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.

Related Diseases for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Symptoms & Phenotypes for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Human phenotypes related to Mitochondrial Complex Iv Deficiency, Nuclear Type 19:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 very rare (1%) HP:0002376
2 recurrent respiratory infections 31 very rare (1%) HP:0002205
3 motor delay 31 very rare (1%) HP:0001270
4 increased serum lactate 31 very rare (1%) HP:0002151
5 babinski sign 31 very rare (1%) HP:0003487
6 increased csf lactate 31 very rare (1%) HP:0002490
7 hypokinesia 31 very rare (1%) HP:0002375
8 bradykinesia 31 very rare (1%) HP:0002067
9 protein-losing enteropathy 31 very rare (1%) HP:0002243
10 hyperglycinemia 31 very rare (1%) HP:0002154
11 increased mitochondrial number 31 very rare (1%) HP:0040014
12 decreased activity of mitochondrial complex iv 31 very rare (1%) HP:0008347
13 increased csf alanine concentration 31 very rare (1%) HP:0500233
14 lacticaciduria 31 HP:0003648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
developmental regression
global developmental delay
hypokinesia
bradykinesia
pyramidal signs
more
Abdomen Gastrointestinal:
protein-losing enteropathy (patient a)

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

Immunology:
recurrent infections (patient a)
hypogammaglobulinemia (patient a)

Clinical features from OMIM®:

619063 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Genetic Tests for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Anatomical Context for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

MalaCards organs/tissues related to Mitochondrial Complex Iv Deficiency, Nuclear Type 19:

40
Medulla Oblongata

Publications for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Articles related to Mitochondrial Complex Iv Deficiency, Nuclear Type 19:

# Title Authors PMID Year
1
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. 6 57
28386624 2017

Variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

ClinVar genetic disease variations for Mitochondrial Complex Iv Deficiency, Nuclear Type 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PET117 , KAT14 NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) SNV Likely pathogenic 981504 GRCh37: 20:18122927-18122927
GRCh38: 20:18142283-18142283

Expression for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Search GEO for disease gene expression data for Mitochondrial Complex Iv Deficiency, Nuclear Type 19.

Pathways for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

GO Terms for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

Sources for Mitochondrial Complex Iv Deficiency, Nuclear Type 19

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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