Disease #00611

Official abbreviation MC1DN
Name mitochondrial complex I deficiency (MC1DN)
OMIM ID 252010
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 18
Phenotype entries for this disease 18
Associated with 19 genes ACAD9, FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL
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18 entries on 1 page. Showing entries 1 - 18.
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00063250 - - - M no Spain - - 0 - - MC1DN - FOXRED1 FOXRED1 2 1 NeuroMeGen
00081067 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MC1DN m complex I deficiency (OMIM:252010) NDUFV1 NDUFV1 1 1 Daniel Trujillano
00107834 18179882-Fam PubMed: Saada 2008, Journal: Saada 2008 5-generation family, 9 affecteds (5F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Israel Arab, muslim - 0 - - MC1DN see paper; ... NDUFAF4 NDUFAF4 1 9 Johan den Dunnen
00180279 Patient 1 PubMed: Reinson 2018 - M - Estonia - - 0 - - MC1DN normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy, EEG-mild background activity depression; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; temporary normocytic anemia; lactic acidosis (serum lactate 2-20 mmol/l); hypertrophic cardiomyopathy - NDUFB11 1 1 Sander Pajusalu
00180280 Patient 2 PubMed: Reinson 2018 - M - Estonia - - 0 - - MC1DN normal skeletal muscle; normal skin; MRI-brain mild cerebral atrophy; no epilepsy; developmental delay/intellectual disability; optic atrophy; short stature; persistent leukopenia and microcytic anemia; lactic acidosis (CSF lactate 3.1 mmol/l (normal <2.1 mmol/l)); hypertrophic cardiomyopathy; joint contractures, non-progressive mild hearing impairment - NDUFB11 1 1 Sander Pajusalu
00229764 - PubMed: Shehata 2015 - F - - - 6m 0 - - MC1DN histiocytoid cardiomyopathy NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229765 - PubMed: van Rahden 2015 - F - - - - 0 - - MC1DN axial hypotonia; linear skin defect; lacrimalduct atresia; failure to thrive; no anemia; no lactic acidosis; histiocytoid cardiomyopathy; died at age 6m, autopsy revealed thyroid abnormalities (large and multiple sites of oncocytic metaplasia) NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229766 - PubMed: Rea 2017 - F - United Kingdom (Great Britain) - - 0 - - MC1DN mild to moderate bulbar palsy; normal skin; MRI-brain focal histiocytoid change in choroid plexus brain; no epilepsy; intermittent squint; no anemia; histiocytoid cardiomyopathy; focal histiocytoid change in the thyroid and lungs NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229767 - PubMed: Torraco 2017 - M - - - - 0 - - MC1DN normal skeletal muscle; normal skin; MRI-brain normal; no epilepsy; no developmental delay/intellectual disability; normal growth; congenital sideroblastic anemia; lactic acidosis (4.2-8.2 mmol/l); fetal tachycardia and hypertrophy ventricular walls with moderate trabeculature right ventricle; dysmorphic features: hypertelorism, saddle nose, low set ears; hepatosplenomegaly and hydrocele NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229768 - PubMed: Lichtenstein 2016 - M - - - - 0 - - MC1DN normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; short stature; congenital sideroblastic anemia; no; no cardiac abnormality NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229769 - PubMed: Lichtenstein 2016 healthy carrier mother M - - - - 0 - - MC1DN myopathy; normal skin; no epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; lactic acidosis; no cardiac abnormality NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229770 FamPat1 PubMed: Lichtenstein 2016 2-generation family, 2 affected sibs (2M), healthy carrier mother M - - - - 0 - - MC1DN normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality NDUFB11 NDUFB11 1 2 Johan den Dunnen
00229771 FamPat2 PubMed: Lichtenstein 2016 sib2 M - - - - 0 - - MC1DN normal skin; no epilepsy; developmental delay/intellectual disability; congenital optic atrophy; short stature; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229772 - PubMed: Lichtenstein 2016 un-known M - - - - 0 - - MC1DN myopathy; normal skin; epilepsy; no developmental delay/intellectual disability; no abnormalities eyes; normal growth; congenital sideroblastic anemia; no lactic acidosis; no cardiac abnormality; single kidney, pulmonary stenosis, congenial inguinal hernia NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229773 - PubMed: Shehata 2015 de novo F - - - - 0 - - MC1DN histiocytoid cardiomyopathy NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229774 - PubMed: Kohda 2016 de novo M - Japan - 3d 0 - - MC1DN redundant skin; intrauterine growth restriction; heart failure; died at age 55h NDUFB11 NDUFB11 1 1 Johan den Dunnen
00229775 FamPat1 PubMed: van Rahden 2015 2-generation family, 2 affected (2F), healthy carrier mother F - - - - 0 - - MC1DN linear skin defect; MRI-brain corpus callosum agenesis, dilated lateral ventricles; epilepsy; severe global developmental delay; myopia, nystagmus, strabismus; failure to thrive; no anemia; no lactic acidosis; dilated cardiomyopathy NDUFB11 NDUFB11 1 2 Johan den Dunnen
00229776 FamPat2 PubMed: van Rahden 2015 fetus (pregnancy terminated 24w) F - - - - 0 - - MC1DN MRI-brain corpus callosum dysgenesis, connected lateral ventricles, small cerebellum and cavum septum pellucidum; intrauterine growth restriction; thickened myocardium and pericardial effusion NDUFB11 NDUFB11 1 1 Johan den Dunnen
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