Disease #01740 (MC4DN (mitochondrial complex IV deficiency (MCDN4)))

Official abbreviation MC4DN
Name mitochondrial complex IV deficiency (MCDN4)
OMIM ID -
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 13 genes APOPT1, COA5, COX10, COX14, COX20, COX5A, COX6A2, COX6B1, FASTKD2, PET100, SCO1, SURF1, TACO1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-07-23 10:38:44 +02:00 (CEST)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00020015 - - - M yes - - 00y01m - - - MC4DN core clinical features: progressive neonatal hypertrophic, cardiomyopathy, lactic acidosis, muscular hypotonia: other features: pulomonary hypertension, persistent ductus arteriosus, dysmorphic features (small chin flat orbital bridges) COA6 COA6 1 1 Richard Rodenburg
00095413 28386624-Pats PubMed: Renkema 2017, Journal: Renkema 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sibs F yes Morocco - - - - - MC4DN see paper; ..., mitochondrial complex IV deficiency (HP:0008347), neurodevelopmental regression (HP:0002376), medulla oblongata lesions (HP:0011441) - PET117 1 2 Herma Renkema
00132782 - - - M - - - - - - - MC4DN - VARS2 VARS2 2 1 Daniele Ghezzi
00204778 24462369-A1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected M yes Australia Lebanese 00y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts, liver), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), increased blood and CSF lactate levels (HP:0003128) - PET100 1 1 Sze Chern Lim
00205226 24462369-B1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected (first 4 children in the family died within the first year of life without clear diagnoses but all had developmental delay and seizures.) M yes Australia Lebanese 00y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128) - PET100 1 1 Sze Chern Lim
00207012 24462369-C1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 1 affected F no Australia Lebanese >15y06m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts), Elevated serum and CSF lactate levels (HP:0003128), elevated CSF and serum pyruvate (HP:0003542) levels - PET100 1 1 Sze Chern Lim
00207013 24462369-D1 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese >24y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Elevated plasma and CSF lactate levels (HP:0003128), profound mental retardation (HP:0002187), seizures (HP:0001250) - PET100 1 2 Sze Chern Lim
00207014 24462369-D2 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese 00y07m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), delayed motor milestones (HP:0001270), increased CSF lactate (HP:0002490) - PET100 1 1 Sze Chern Lim
00207418 24462369-E1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 2 affected siblings M no Australia Lebanese 16y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250) - PET100 1 2 Sze Chern Lim
00207419 24462369-E2 PubMed: Lim 2014 2 generation family, non-consanguineous, 2 affected siblings M no Australia Lebanese >27y - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), developmental delay, hypotonia, failure to thrive (HP:0001508), increased blood lactate (HP:0002151) - PET100 1 1 Sze Chern Lim
00207420 24462369-F1 PubMed: Lim 2014 2 generation family, consanguineous parents M yes Australia Lebanese >09y08m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment - PET100 1 1 Sze Chern Lim
00207421 24462369-G1 PubMed: Lim 2014 2 generation family, consanguineous parents F yes Australia Lebanese 00y12m - - - LS, MC4DN Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, liver), Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine PET100 PET100 1 1 Sze Chern Lim
00207422 24462369-H1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected child, 3 unaffected chlidren M yes Australia Lebanese 03y06m - - - LS, MC4DN blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial MRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties., Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, muscle and liver) PET100 PET100 1 1 Sze Chern Lim
00207423 25293719-73387 PubMed: Oláhová 2015 2 generation family, consanguineous parents, 1 affected child F yes United Kingdom (Great Britain) Pakistani 00y00m02d - - - MC4DN Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function. - PET100 1 1 Sze Chern Lim
00265780 Fam1Pat1 PubMed: Inoue 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MC4DN age onset infancy; hypotonia, muscle weakness, facial weakness, high arched palate, no respiratory disorder; ECG normal; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets COX6A2 COX6A2 1 1 Johan den Dunnen
00265781 Fam2Pat2 PubMed: Inoue 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - MC4DN hypotonia, muscle weakness, facial weakness, high arched palate, respiratory disorder; ECG cardiomyopathy; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets COX6A2 COX6A2 2 1 Johan den Dunnen
00385927 family PubMed: Huigsloot 2011 5-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Netherlands Turkey - - - - MC4DN see paper; ..., 8d-male died of hypertrophic cardiomyopathy left and right ventricles; 10d female died of hypertrophic restrictive cardiomyopathy COA5 COA5 1 2 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.