Browse result page of RareLSD

The total number entries retrieved from this search are 6

ID	Disorder	Inheritance	Organ Affected	Onset	Genotype-Phenotype Correlation	Refrences
2012	Metachromatic leukodystrophy (MLD)	Autosomal recessive	Eye,Nervous System,Muscle	Early Adult (both)	Late infantile MLD, the most common mutation is an ARSA splicing defect, c.465+1G>A, and for adult onset MLD the most common is c.1283C>T; together these mutations account for almost 33% of MLD alleles (Cesani et al., 2016)	27638601
2013	Mucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDROME	Autosomal recessive	Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Head,Nervous System	Early Adult (both)	p.Y251X: severe phenotype (Saudi Arabia), p.H178L is a common founder mutation found in Brazil, p.Y251X and c270_274del5bp pc.91Afs*34 genotypes , in consanguineous cases followed the rapidly severe phenotype. Cardiac involvement : p.R152W mutation in the ARSB gene.	28914427
2018	MPS type VII (Sly syndrome)	Autosomal recessive	Ear,Skin,Eye,Heart,Bones,Liver,Lungs,Hair,Nervous System,Kidney,Spleen	Early Adult (both)	Attenuated:p.C38G,p.D152G,p.L176F,p.K350N,p.S52F,p.R110X,p.P148S,p.E150K,Severe:p.K194fsX22,p.R216W,p.L243P,p.S312X,p.Y320S,Pseudodefeciency: p.D152N	19224584
2019	GM2gangliosidosis Tay-Sachs disease (HEXA)	Autosomal recessive	Nervous System,Lungs,Eye	Early Adult (both)	E482K: E482K is a buried residue important for a salt bridge with an arginine residue The change in charge of this residue likely explains the massive conformational changes predicted to occur. E482K and G269S ? mutants remain unprocessed and have impaired activities. G269S: adult-onset TSD, E482K mutant is a relatively rare variant, but a severe one that exhibits little residual activity and causes infantile forms of TSD82K: E482 is a buried residue important for a salt bridge with an arginine residue The change in charge of this residue likely explains the massive conformational changes predicted to occur. E482K and G269S ? mutants remain unprocessed and have impaired activities	27682588
2034	Batten Disease NCL 1 (CLN1)	Autosomal recessive	Nervous System,Bones,Head,Eye	Early Adult (both)	49 mutations currently reported	23747979
2037	Galactosialidosis	Autosomal recessive	Nervous System,Bones,Skin,Heart,Ear	Early Adult (both)	p.Tyr413Cys mutation underlies the severe phenotype. The p.Tyr267Asn was detected in a variant form of an early infantile patient without neurological involvement.p.Gln67Arg was first reported in a juvenile patient, in combination with a mild mutation. Coarse facies, hepatosplenomegaly, growth retardation and an unusual renal symptomatology were described in a 9-year-old patient who was compound heterozygous for the p.Gly103Val and p.Arg442Trp mutations.p.Tyr413Cys, in the adult patient it was detected in combination with the c.746?+?3A > G change, reported as a mild mutation in homozygotes adult patients	23915561