Disease #00038 (LS (Leigh syndrome (LS)), OMIM:256000)

Official abbreviation LS
Name Leigh syndrome (LS)
OMIM ID 256000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive, Mitochondrial
Individuals reported having this disease 72
Phenotype entries for this disease 62
Associated with 17 genes BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
Associated tissues -
Disease features -
Remarks -
Date created 2012-08-30 16:26:44 +02:00 (CEST)
Date last edited 2025-01-31 09:48:07 +01:00 (CET)


Individuals

72 entries on 1 page. Showing entries 1 - 72.
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00004537 - - - F no United Kingdom (Great Britain) white (white) - - - - LS failure to thrive, dysphagia, recurrent vomiting, apnoea, developmental regression NDUFS2 NDUFS2 2 1 Robert McFarland
00004538 - - - F no United Kingdom (Great Britain) white - - - - LS - NDUFS2 NDUFS2 2 1 Robert McFarland
00004539 - - - M no United Kingdom (Great Britain) white - - - - LS - NDUFV1 NDUFV1 2 1 Robert McFarland
00072357 - - OMIM600857:0002; 1 isolated case - - - - - - - - LS - SDHA SDHA 2 1 Tonino Ercolino
00072358 - - 1 isolated case - - - - - - - - LS Epilepsy, psychomotor retardation, and tetraspasticity. SDHA SDHA 2 1 Jean-Pierre Bayley
00072360 - - OMIM600857:0001; 1 family 2 affected - - - - - - - - LS Leukodystrophy SDHA SDHA 2 1 Tonino Ercolino
00072361 - - OMIM600857:0004 - - - - - - - - LS - SDHA SDHA 2 1 Tonino Ercolino
00073073 - - 1 isolated case - - - - - - - - LS death in infancy – respiratory infection and severe hypoglycemia SDHA SDHA 1 1 Jean-Pierre Bayley
00073096 - - - - - - - - - - - LS - SDHA SDHA 2 1 Herma Renkema
00073097 - - - - - - - - - - - LS no basal ganglia involvement SDHA SDHA 2 1 Herma Renkema
00073099 - - This patient is the same as described by PubMed: Horvath et al. (2006) - - - - - - - - LS - SDHA SDHA 2 1 Herma Renkema
00080808 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LS Leigh syndrome, COX IV deficiency (OMIM:256000) SURF1 SURF1 1 1 Daniel Trujillano
00080983 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - LS Leigh syndrome (OMIM:256000) NDUFS4 NDUFS4 1 1 Daniel Trujillano
00087078 - - leighs (SURF1) - - - - - - - - LS Leigh's disease SURF1 SURF1 1 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
00174853 Pat1 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - LS see paper; ... NDUFAF5 NDUFAF5 2 1 Mariella Simon
00174854 Pat3 PubMed: Simon 2019, Journal: Simon 2019 - M - United States - - - - - LS ? NDUFAF5 NDUFAF5 3 1 Mariella Simon
00174855 Pat2 PubMed: Simon 2019, Journal: Simon 2019 - - - United States Taiwan - - - - LS see paper; ... NDUFAF5 NDUFAF5 1 1 Mariella Simon
00204610 - - - M - - Dutch - - - - LS - C12orf65 C12orf65 1 1 LOVD
00204611 - - Both parents (and an older sister) were heterozygous carriers of the mutation, making it unlikely. An older brother was homozygous for the wild-type allele. F - - Turkish - - - - LS - C12orf65 C12orf65 1 1 LOVD
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
00205135 - - - F - United States white - - - - LS Hypotonia, ataxia, ophthalmoplegia,nystagmus SURF1 SURF1 2 1 Inn-Chi Lee
00205136 - - - - - - - - - - - LS - SURF1 SURF1 1 1 Inn-Chi Lee
00205137 - - - F - United States Pakistani 3y6m - - - LS Hypotonia, ataxia, myoclonic jerks, extrapyramidal movements SURF1 SURF1 1 1 Inn-Chi Lee
00205138 - - - M - United States white - - - - LS Hypotonia, ataxia, dystonia, Cerebellum, brainstem, and basal ganglia in MRI SURF1 SURF1 1 1 Inn-Chi Lee
00205139 - - - - - - - - - - - LS atypical SURF1 SURF1 1 1 Inn-Chi Lee
00205140 - - - - - (Taiwan) - - - - - LS hypotonia, ataxia, apnea SURF1 SURF1 1 1 Inn-Chi Lee
00205141 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205142 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205143 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205144 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205145 - - - - - - - - - - - LS atypical SURF1 SURF1 1 1 Inn-Chi Lee
00205146 - - - F - (United States) Asian - - - - LS atypical / Hypotonia, microcephaly, Leucodystrophy in MRI SURF1 SURF1 1 1 Inn-Chi Lee
00205147 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205148 - - - - - - - - - - - LS Hypotonia, ataxia, nystagmus SURF1 SURF1 1 1 Inn-Chi Lee
00205149 - - Lactic acidosis, increased pyruate, seiuzre M - United States white/Asian - - - - LS abnormal MRI in basal ganglia SURF1 SURF1 2 1 Inn-Chi Lee
00205150 - - - - - - - - - - - LS - SURF1 SURF1 2 1 Inn-Chi Lee
00205151 - - - - - - - - - - - LS Down syndrome, cardiovascular malformations, vertebral anomalies, hypotonia, muscle weakness, swallowing difficulties SURF1 SURF1 1 1 Inn-Chi Lee
00205152 - - - - ? - - - - - - LS - SURF1 SURF1 1 1 Carl Fratter
00205153 - - 1 Family, 2 patients - yes - - - - - - LS - SURF1 SURF1 1 2 Carl Fratter
00205154 - - - - - - - - - - - LS atypical SURF1 SURF1 1 1 Inn-Chi Lee
00205155 - - - - - - - - - - - LS - SURF1 SURF1 1 1 Inn-Chi Lee
00205156 - - - F - United States - - - - - LS - SURF1 SURF1 1 1 Inn-Chi Lee
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
00228779 - - - F - China - - - - - LS failure to thrive,psychomotor regression,seizures and vomiting,increased lactate SURF1 SURF1 1 1 Wenjuan Qiu
00274234 Fam1Pat PubMed: Alston 2020, Journal: Alston 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - LS see paper; ... C17orf89 C17orf89 2 1 Johan den Dunnen
00274235 Fam2Pat PubMed: Alston 2020, Journal: Alston 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States white - - - - LS see paper; ... C17orf89 C17orf89 2 1 Johan den Dunnen
00274236 Fam3Pat PubMed: Alston 2020, Journal: Alston 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany white - - - - LS see paper; ... C17orf89 C17orf89 1 1 Johan den Dunnen
00303585 FamPatIV5 PubMed: Weraarpachai 2009, PubMed: Seeger 2010 5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives M yes Germany Kurdish - - - - LS see paper; ... TACO1 TACO1 1 5 Johan den Dunnen
00303587 patient PubMed: Oktay 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - LS see paper; ... TACO1 TACO1 1 1 Johan den Dunnen
00303588 patient PubMed: Oktay 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Turkey - - - - - LS see paper; ... TACO1 TACO1 1 1 Johan den Dunnen
00306151 family PubMed: Peters 2014 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Greece - - - - - LS see paper; ..., fatal Leigh disease, increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites ECHS1 ECHS1 2 2 Johan den Dunnen
00306170 Pat4 PubMed: Simon 2019, Journal: Simon 2019 - M - United States Jewish-Ashkenazi - - - - LS see paper; ... NDUFAF5 NDUFAF5 2 1 Mariella Simon
00306171 patient PubMed: Sakai 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - LS see paper; ... ECHS1 ECHS1 2 1 Johan den Dunnen
00306172 FamPatIII2/3 PubMed: Yamada 2015 3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no Japan - - - - - LS see paper; ... ECHS1 ECHS1 2 2 Johan den Dunnen
00310039 - - - - - - - - - - - LS - NDUFA12 NDUFA12 1 1 Rosalba Carrozzo
00310608 - - - - - - - - - - - LS - NDUFA12 NDUFA12 1 1 Rosalba Carrozzo
00310609 - - - - - - - - - - - LS - NDUFA12 NDUFA12 1 1 Rosalba Carrozzo
00310610 - - - - - - - - - - - LS - NDUFA12 NDUFA12 1 1 Rosalba Carrozzo
00436498 patient PubMed: Borna 2019 2-generation family, 1 affected, unaffected heterozygous parents F no Japan - - - - - LS see paper; ..., 1y4m-died of respiratory failure; low birth weight 632g (− 4.26SD), height 28cm (− 4.7SD), OFC 23.2 cm (− 2.3SD); mental retardation, optic atrophy, MRI brain abnormal bilateral signals basal ganglia/brainstem; severe bilateral hearing loss - PTCD3 2 1 Johan den Dunnen
00436738 - - - M no Italy - - - - - LS - OPA1 OPA1 1 1 Rosalba Carrozzo
00436739 - - - F no (Italy) - - - - - LS - OPA1 OPA1 1 1 Rosalba Carrozzo
00466005 Pat1 PubMed: Antonicka 2025, Journal: Antonicka 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - LS see paper; ..., 14m15d-failure to thrive, microcephaly (OFC 41cm, Z-4.7), hypotonia, gross motor skills <4m skill level), fine motor skills 6m level), no expressive language skills attendance to voices, nystagmus, esotropi, no retinal pathology - FASTKD5 2 1 Johan den Dunnen
00466006 Pat2 PubMed: Antonicka 2025, Journal: Antonicka 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - LS see paper; ..., fever unknown origin; sub-acute onset cognitive-motor slowing, lethargy, hyperphagia, difficulty in ambulation, oculomotor alterations (mild convergent strabismus left eye with mild abduction deficit, vertical nystagmus primary position, horizontal nystagmus in bilateral gaze settings, complete deficit ocular pursuit movements vertical plane); MRI-brain intra-axial lesions midbrain, tegmentum, and tectal plate, with extension along medial longitudinal fasciculus, with modest mass effect, linear enhancement, increased perfusion indices; lactic acid peak on spectroscopy - FASTKD5 3 1 Johan den Dunnen
00466007 Pat3 PubMed: Antonicka 2025, Journal: Antonicka 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - LS see paper; ..., born small for gestational age; pregnancy preeclampsia; intensive care nursery for poor feeding for 3w; eat orally, failure to thrive, 11m-gastrostomy tube; global developmental delay without regression, most notably in gross motor skills, 2y-walk; expressive speech, 16m-first babbling, 21m-sign 20–30 word; exercise intolerance; dysmorphic facial features (midfacial hypoplasia, prominent cheeks, micro/retrognathia, epicanthus, down-slanting palpebral fissures, smooth philtrum, thin upper lip; intermittent mild lactatemia - FASTKD5 2 1 Johan den Dunnen
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