Disease #05684 (neuropathy, optic (neuropathy, optic))

Official abbreviation neuropathy, optic
Name neuropathy, optic
OMIM ID -
Inheritance -
Individuals reported having this disease 114
Phenotype entries for this disease 106
Associated with 1 gene ACO2
Associated tissues -
Disease features -
Remarks -


Individuals

114 entries on 2 pages. Showing entries 1 - 100.
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Genes screened
Variants in genes
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00225645 Sibling 1 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT ACO2 ACO2 2 1 Thomas Foulonneau
00225646 Sibling 2 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551) ACO2 ACO2 2 1 Thomas Foulonneau
00225647 Patients 1 and 2 PubMed: Metodiev 2014 2 affected M ? France - - 0 - - neuropathy, optic, blindness Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) ACO2 ACO2 2 2 Thomas Foulonneau
00275687 - - - - - - - - 0 - - neuropathy, optic - - - 0 1 Marc Ferre
00275688 - - - - - - - - 0 - - neuropathy, optic - ACO2 - 0 1 Marc Ferre
00275689 - - - - - - - - 0 - - neuropathy, optic - - - 0 1 Marc Ferre
00275985 - Charif et al. (in progress) - F - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275991 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275992 - Charif et al. (in progress) 3 generation, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639) ACO2 ACO2 1 3 Khadidja Guehlouz
00275993 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Amblyopia (HP:0000646) ACO2 ACO2 1 1 Khadidja Guehlouz
00275994 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275995 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275996 - Charif et al. (in progress) 2 generation, 2 carriers, 1 affected M no France - - 0 - - neuropathy, optic Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546) ACO2 ACO2 1 2 Khadidja Guehlouz
00276060 - Charif et al. (in progress) 3 generation, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00276061 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276062 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected M no France - - 0 - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00276063 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? France - - 0 - - neuropathy, optic Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276064 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276065 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276066 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 2 Khadidja Guehlouz
00276072 - Charif et al. (in progress) 2 generation, 2 carriers, 1 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 2 Khadidja Guehlouz
00276121 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? Pakistan - - 0 - - neuropathy, optic Abnormal retinal morphology on macular OCT (HP:0030612) ACO2 ACO2 1 2 Khadidja Guehlouz
00276122 - Charif et al. (in progress) - F - France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276128 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic High myopia (HP:0011003); Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276130 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276131 - Charif et al. (in progress) 2 generations, 1 carrier, 1 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276132 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276133 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276135 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276136 - Charif et al. (in progress) 2 generation, 2 carriers, 2 affected (son affected) F ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276351 - Charif et al. (in progress) - F ? Italy - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276352 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected F - Italy - - 0 - - neuropathy, optic Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma ACO2 ACO2 1 1 Khadidja Guehlouz
00276354 - Charif et al. (in progress) 1 generation, 1 carrier, 1 affected (4 siblings don't affected and don't carry the variant) F ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276355 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276356 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281820 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281821 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281823 - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected (paternal) M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00286161 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286162 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286175 - Charif et al. (in progress) - F ? Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286177 - Charif et al. (in progress) 3 generations, 3 carriers, 3 affected M ? Spain - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286182 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M ? Italy - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286183 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? Italy - - 0 - - neuropathy, optic Ptosis (HP:0000508) ACO2 ACO2 1 1 Khadidja Guehlouz
00286184 - Charif et al. (in progress) - F ? Italy - - 0 - - neuropathy, optic Glaucoma (HP:0000501) ACO2 ACO2 1 1 Khadidja Guehlouz
00286185 - Charif et al. (in progress) - M - Germany - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286188 - Charif et al. (in progress) - M ? Germany - - 0 - - neuropathy, optic Abnormal macular morphology (HP:0001103) ACO2 ACO2 1 1 Khadidja Guehlouz
00286190 - Charif et al. (in progress) - F - Germany - - 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00286191 - Charif et al. (in progress) - M ? England - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 2 1 Khadidja Guehlouz
00286196 - Charif et al. (in progress) 2 generations, 4 carriers, 1 affected F ? Italy - - 0 - - neuropathy, optic Cystoid macular degeneration (HP:0008028) ACO2 ACO2 2 1 Khadidja Guehlouz
00287171 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic Abnormal macular morphology (HP:0001103); Mycrocyst ACO2 ACO2 1 1 Khadidja Guehlouz
00287172 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287363 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287364 - Charif et al. (in progress) - M - France - - 0 - - neuropathy, optic Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734) ACO2 ACO2 1 1 Khadidja Guehlouz
00287366 - Charif et al. (in progress) 2 generations, 2 carriers (daughter), 1 affected F - France - - 0 - - neuropathy, optic Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome ACO2 ACO2 1 2 Khadidja Guehlouz
00287971 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287972 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected M no France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 4 Khadidja Guehlouz
00287973 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287974 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic Macular dystrophy (HP:0007754) ACO2 ACO2 1 1 Khadidja Guehlouz
00287975 - Charif et al. (in progress) 2 generations,2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287976 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287979 - Charif et al. (in progress) 2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354) ACO2 ACO2 2 1 Khadidja Guehlouz
00287980 - Charif et al. (in progress) 1 generation, 3 carriers, 1 affected M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00287981 - Charif et al. (in progress) 2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00287982 - Charif et al. (in progress) 4 generations,1 carrier, 1 affected M no France - - 0 - - neuropathy, optic Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260) ACO2 ACO2 2 1 Khadidja Guehlouz
00288886 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288887 - Charif et al. (in progress) Both non affected parents are HTZ for each variant F ? France - 00y-02y 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00288888 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00288889 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 5 Khadidja Guehlouz
00288890 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 2 Khadidja Guehlouz
00288891 - Charif et al. (in progress) Non affected mother are heterozygous for one variant F ? Italy - - 0 - - neuropathy, optic Anorexia (HP:0002039); Migraine (HP:0002076) ACO2 ACO2 2 1 Khadidja Guehlouz
00288892 - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00288893 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288894 - Charif et al. (in progress) 1 generation, 2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00288895 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822) ACO2 ACO2 2 1 Khadidja Guehlouz
00288896 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313) ACO2 ACO2 1 1 Khadidja Guehlouz
00288897 - Charif et al. (in progress) - M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288898 - Charif et al. (in progress) father with optic disc pallor but NO DNA M ? France - - 0 - - neuropathy, optic Amblyopia (HP:0000646) ACO2 ACO2 1 1 Khadidja Guehlouz
00288899 - Charif et al. (in progress) mother and daughter affected but no DNA M ? France - - 0 - - neuropathy, optic Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650) ACO2 ACO2 2 1 Khadidja Guehlouz
00289017 - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289018 - Charif et al. (in progress) 3 generations, 3 carriers, 2 affected ( son and grandson) F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289019 - Charif et al. (in progress) - F ? France - - 0 - - neuropathy, optic Hypertension (HP:0000822); Renal insufficiency (HP:0000083) ACO2 ACO2 1 1 Khadidja Guehlouz
00289020 - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289021 - Charif et al. (in progress) 2 generations, 3 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289022 - Charif et al. (in progress) 3 generations, 4 carriers,2 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289023 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289024 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00289025 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00289027 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289028 - Charif et al. (in progress) 2 generations, 5 carriers, 4 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289029 - Charif et al. (in progress) 2 generations, 2 carriers, 2 affected M ? France - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00289030 - Charif et al. (in progress) 2 generations, 2carriers,1 affected (son) F ? Pakistan - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289031 - Charif et al. (in progress) 2 generations, 2 carriers,1 affected M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289032 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected (son) F - France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289033 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected (mother) F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289034 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289035 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected F ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289036 - Charif et al. (in progress) 3 generations, 4 carriers, 2 affected M ? France - - 0 - - neuropathy, optic Attention deficit (HP:0007018); Cognitive impairment (HP:0100543); Strabismus (HP:0000486) ACO2 ACO2 1 1 Khadidja Guehlouz
00289037 - Charif et al. (in progress) 2 generations, 2 carriers, 1 affected M - France - - 0 - - neuropathy, optic - ACO2 ACO2 2 2 Khadidja Guehlouz
00289038 - Charif et al. (in progress) 2 generations, 2 carriers, 1affected (son) M ? France - - 0 - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
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