Disease #05452 (MC3DN (mitochondrial complex III deficiency, nuclear (MC3DN)]))

Official abbreviation MC3DN
Name mitochondrial complex III deficiency, nuclear (MC3DN)]
OMIM ID -
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 10 genes BCS1L, C11orf83, CYC1, LYRM7, MNF1, TTC19, UQCRB, UQCRC2, UQCRFS1, UQCRQ
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00000269 23281071-Fam PubMed: Miyake 2013, Journal: Miyake 2013 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Mexico - - 0 - - MC3DN see paper; ... UQCRC2 UQCRC2 1 3 Noriko Miyake
00165321 28275242-Pat PubMed: Gaignard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - 0 - - MC3DN see paper; …, neonatal lactic acidosis, hypoglycemia, severe episodes of liver failure UQCRC2 UQCRC2 1 3 Johan den Dunnen
00275559 Fam1Pat1 PubMed: Gusic 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Afghanistan - 00y03m15d 0 - - MC3DN no intrauterine growth retardation (below P10) (HP:0001511); no low birth weight (HP:0001518); fetal bradycardia (HP:0001662); hypothermia (HP:0002045); feeding difficulties (HP:0008872); hyperventilation (HP:0002883); lactic acidosis (HP:0003128) 24 mmol/l; hypertrophic cardiomyopathy (HP:0001639); no ventricular septal defect (HP:0001629); no persistent left superior vena cava (HP:0005301); pericardial effusion (HP:0001698); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); elevated creatine kinase levels (HP:0003236) (>5,000 U/l); thrombocytopenia (HP:0001873); abnormality of blood coagulation (HP:0001928); alopecia totalis (HP:0007418); cholelithiasis (HP:0001081) UQCRFS1 UQCRFS1 1 1 Johan den Dunnen
00275560 Fam2Pat2 PubMed: Gusic 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Germany - - 0 - - MC3DN intrauterine growth retardation (<P10) (HP:0001511); low birth weight (HP:0001518); fetal bradycardia (HP:0001662); persistent fetal circulation (HP:0011726); feeding difficulties (HP:0008872); lactic acidosis (HP:0003128) 15 mmol/l; metabolic crises during febrile infections (HP:0004897); hypertrophic cardiomyopathy (HP:0001639); ventricular septal defect (HP:0001629); persistent left superior vena cava (HP:0005301); muscular hypotonia (HP:0001252); muscular weakness (HP:0001324); delayed motor development (HP:0001270); thrombocytopenia (HP:0001873); normochromic anemia (HP:0001895); bilateral papilledema (HP:0001085); alopecia totalis (HP:0007418) UQCRFS1 UQCRFS1 2 1 Johan den Dunnen
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