Browse result page of RareLSD
The total number entries retrieved from this search are 17| ID | Disorder | Inheritance | Organ Affected | Onset | Genotype-Phenotype Correlation | Refrences |
|---|---|---|---|---|---|---|
| 2001 | Fabry's Disease | X-linked recessive | Kidney, Heart,Eye,Skin,Muscle,Bones,Nervous System,Lungs | Adult | Active -site mutations p.D93E/Y, p.D170N, p.R227Q and p.D231N cannot retain enzyme activity under treatment of chaperone DGJ , best responders to DGJ were p.A156V, p.I253S, p.R301Q | 23935525 |
| 2005 | MPS IVA/Morquio A disease | Autosomal recessive | Ear,Head , Face,Teeth | Adult | p.R386C (CGT to TGT) mutation at the CpG dinucleotide, nonconservative, amino acid change generates a large structural alteration of GALNS protein,leading to a severe form of MPS IVA, p.G139S transitional mutation at the CpG dinucleotide,found in several ethnic groups (Argentina, Brazil, UK, and USA).p.R380S (AGG to AGT) mutation found in two Argentine patients was also identified in an Italian MPS IVA patient with a milder form. the p.Ile113Phe [62] and p.Thr312Ser missense variants recur in patients of British-Irish origin and a milder phenotype has been associated with the residual activity of the mutant p.Thr312Ser protein | 15309681 30442161 |
| 2009 | Kanzaki disease(type II) | Autosomal recessive | Skin,Hair,Eye,Nervous System,Nose,Ear,Muscle | Adult | E193X forms a Stop codon, R329W,R329Q Disrupts hydrophobic core | 19683538 |
| 2010 | Schindler disease(type III) | Autosomal recessive | Eye,Bones, Nervous System,Muscle | Adult | E367K substitution found in type III patients presents a paradox. The E367 side chain is solvent exposed and the replacement of one surface-exposed charge for another is typically well tolerated by proteins,intermediate disorder with mild to moderate neurological manifestations | 19683538 |
| 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 |
| 2016 | GM1gangliosidis Type III | Autosomal recessive | Eye,Bones,Nervous System,Liver,Spleen,Muscle | Adult | mildest phenotype of the disease, with onset between 3 and 30 years, p.G438E/p.G438E , p.W92X/R442Q | 21497194 |
| 2017 | Morquio B | Autosomal recessive | Eye,Bones,Nervous System,Liver,Spleen,Muscle | Adult | mutations such as the p.G438E, p.R201H, and p.S191N may be associated with late onset phenotypes | 21497194 |
| 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 |
| 2022 | Adult Onset Ceroid lipofuscinosis, neurol, 13, Kufs type | Autosomal recessive | Nervous System | Adult | c.213+1G>C: KD type B associated with brain volume reduction, early periventricular and deep white matter hyperintensities and atrophy of corpus callosum. autosomal-recessive cognitive decline without visual failure, brain atrophy as well as periventricular white matter hyperintensities and thinning of the corpus callosum should alert clinicians to a possible diagnosis of CLN13 | 26141065 |
| 2028 | Mucopolysaccharidosis type IIIC | Autosomal recessive | Heart,Hair,Muscle,Bones,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose | Adult | rearrangement in the pericentric region of oneof the two Chromosomes 14 and 21 involved | 1640438 |
| 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 |
| 2038 | Sialidosis (mucolipidosis type I) | Autosomal recessive | Head,Nose,Bones,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,Heart | Adult | composite heterozygous mutations c.700G>A (p.D234N) exon 4, c.1021C>T(p.R341X) exon 5:production of a truncated protein | 25323282 |
| 2041 | Danon disease | Autosomal recessive | Muscle, cardiomyopathy and mental retardation | Adult | Symptom severity tends to be much greater in affected males and Danon disease should be strongly suspected in young males presenting with pre-excitation and moderate to severe cardiac hypertrophy | 25228319 |
| 2045 | Niemann-Pick disease(type B) | Autosomal recessive | hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs, Liver, Spleen, Lungs | Adult | deltaR608, only occurs in type B NPD patients and is found in 15% to 20% of NPD type B individuals in Western Europe and North America. Q292K, is associated with the intermediate neurological phenotype. DeltaR608 developed a later onset, non-neurological type B phenotype | 28164782 |