Mitochondrial Complex IV Deficiency, Nuclear Type 12

Alternative Names

  • MC4DN12
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

619055

Gene Map Locus

19p13.2

Description

Complex IV (cytochrome c oxidase) deficiency is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood. Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is caused by homozygous or compound heterozygous mutation in the PET100 gene. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619055.1.1LebanonMaleNoYes Infectious encephalitis; Abnormal cereb...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.2.1LebanonMaleNoYes Global developmental delay; Hypotonia; ...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014 The patient had four...
619055.3.1LebanonFemaleNoNo Circumoral cyanosis; Lamellar cataract;...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014 The patient had an o...
619055.4.1LebanonMaleYesYes Intellectual disability, profound; Mic...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.4.2LebanonMaleYesYes Cerebral atrophy; Seizure; Status ep...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014 Brother of 619055.4....
619055.5.1LebanonMaleYesNo Profound global developmental delay; H...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.6.1LebanonMaleNoYes Seizure; Abnormal cerebral white matt...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.7.1LebanonFemaleNoYes Global developmental delay; Hypotonia;...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.8.1LebanonMaleNoYes Motor delay; Increased CSF lactate; ...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveLim et al, 2014
619055.9LebanonNo Severe hearing impairment; Seizure; Spas...NM_001171155.2:c.3G>CHeterozygousAutosomalJalkh et al. 2019
619055.10.1LebanonFemaleYesNo Seizure; Global developmental delay; Hyp...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveMansour et al, 2019 Proband from 'Family...
619055.10.2LebanonMaleYesNo Global developmental delay; EEG abnormal...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveMansour et al, 2019 Brother of proband (...
619055.11.1LebanonFemaleYesYes Seizure; Global developmental delay; Fai...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveMansour et al, 2019 Proband from 'Family...
619055.11.2LebanonMaleYesYes Global developmental delay; Failure to t...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveMansour et al, 2019 Brother of proband (...
619055.12LebanonMaleYesYes Congenital lactic acidosis; Cardiomyopa...NM_001171155.2:c.3G>CHomozygousAutosomal, RecessiveRiley et al. 2020 Proband. Parents are...
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