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Summary
DIABETES AND DEAFNESS, MATERNALLY INHERITED (MIDD)
BALLINGER-WALLACE SYNDROME
520000
OMIM = Online Medalian Inheritance of Men
225
rare
mitochorndrial inheritance
symptoms
cardiomyopathy
diabetes mellitus
diarrhea
dysarthria
fatigue, severe or unusual
hearing defect, deafness
hyperglycemia
macular dystrophy
myopathy
onset, adolescent
onset, adulthood
onset, childhood
ophthalmoplegia
ptosis (drooping eyelid)
renal dysfunction, renal defects
retinal or macular degeneration
retinopathy
seizures
laboratory finding
D-Glucose increasedplasma
Literature
Zhu CC,Traboulsi EI, Parikh SOphthalmological findings in 74 patients with mitochondrial diseaseOphthalmic Genet38167-692017
Finsterer JZarrouk-Mahjoub SArrhythmias in MELAS syndromeMol Genet Metab Rep70542016
Koopman WJ,et al.Mitochondrial disorders in children: toward development of small-molecule treatment strategiesEMBO Mol Med84311-3272016
Schnabel RM,et al.Anesthetic management for a child with mitochondrial complex II deficiencyPaediatr Anaesth188802-8032008
Jackson CB,et al.Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyJ Med Genet513170-1752014
Pittet MPet al.Acute cortical deafness in a child with MELAS syndromeJ Inherit Metab Dis393465-4662016
Thomas T,et al.Arrhythmia as a cardiac manifestation in MELAS syndromeMol Genet Metab Rep409-102015
Haack TB,et al.Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9J Med Genet49283-892012
Renkema GH,et al.SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsEur J Hum Genet232202-2092015
Alston CL,et al.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiencyHum Genet1348869-8792015