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Summary
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (MCAHS3)
PIGT-CDG
615398
OMIM = Online Medalian Inheritance of Men
369837
20q13.12
rare
autosomal recessive
mutation in the PIGT gene
symptoms
apnea
ataxia
blindness, visual loss, visual impairment
cardiac involvement, cardiac defects
cardiomyopathy
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dysmorphism
epilepsy
feeding difficulties, poor feeding
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
joint hypermobilty, dislocations
macrocephaly (large calvaria, >2 SD for age)
macrosomia
nephrocalcinosis
nystagmus
onset, childhood
onset, infancy
osteoporosis
renal cysts
seizures
skeletal changes, skeletal abnormalities
skoliosis, kyphoskoliosis
strabismus
laboratory finding
EEG abnormalities -
Phosphatase, alkaline U/lurine
Calcium mmol/lserum
Calcium mmol/mol creatinineurine
MRI, brain, abnormalities -
L-Lactic acid mmol/lblood
Literature
Tabebi M,et al.A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathyBiochem Biophys Res Commun4593353-3602015
Qian CX,et al.Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophyOphthalmic Genet3101-62017
Liu H,et al.Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) geneMitochondrion21049-572015
Velho G,et al.Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutationDiabetes454478-4871996
Mangiafico RA,et al.Accelerated cardiomyopathy in maternally inherited diabetes and deafnessInt J Clin Pharmacol Res24115-212004
Azevedo O,et al.Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNACardiology115171-742010