Browse result page of RareLSD
The total number entries retrieved from this search are 38| ID | Disorder | Inheritance | Organ Affected | Onset | Genotype-Phenotype Correlation | Refrences |
|---|---|---|---|---|---|---|
| 2002 | Fucosidoses | Autosomal recessive | Ear,Nose,Eye,Bones,Nervous System,Lungs,Nervous System,Heart | Early | Inactivating Mutations : Q77X,E113fs, P141fs,K151fs, W183fs,W183X, Y211X, S21Gfs, E253fs,S265fs inactivating Splice-site Mutations: Y330fs,A 66bp duplication of nucleotides 1030 to 1095 of Exon6, E375X, W382X, G401X, Q422X, Deletion of Exon 4, Hoozygous Deletion of exon 7 and 8 | 10094192 |
| 2003 | MPS type I (Hurler and Scheie syndromes) | Autosomal recessive | Skin, Bones, Head, Liver , Spleen | Early | W402X, Q70X account for about 60% of disease alleles in Caucasians. R489P and G51D caused a severe phenotype, at least in combination with W402X on the other allele, while L490P, M504T (homozygous), W626R (with 475-2a?g on the other allele) and A327P (with 1995del12) led to a clinical phenotype with intermediate severity , p.Trp402X and p.Gln70X :severe phenotype, and the p.Pro533Arg associated with an intermediate-severe phenotype; the p.Gly51Asp and p.Pro496Arg mutations have been found until now only in Italian patients, associated with a severe phenotype | 9748610 30442161 |
| 2004 | Lysosomal mannosidosis | Autosomal recessive | Liver, Kidney, Spleen,Eye | Early | c.2248C>T (p.R750W), c.1830+1G>C and c.2426T>C (p.L809P), were relatively frequent, and accounted for approximately 27%, 5% and 3% respectively of the disease alleles Site : http://amamutdb.no | 27814608 |
| 2006 | POMPE DISEASE | Autosomal recessive | Lungs, Ear, Bones, Nervous System | Early | DD genotype in the ACE gene and the XX genotype in the ACTN3 gene were significantly associated to an earlier age of onset of the disease. The ACE DD genotype was also associated to the presence of muscle pain.c.1927G?>?A, produce a small amount of protein, non sense mutation as c.525delT CRIM negative both result in a earlier presentation of the disease. | 25103075 |
| 2007 | Farber lipogranulomatosis | Autosomal recessive | Eye,Liver, Spleen,Skin,Bones,Nervous System | Early | c.665C?>?A (p.T222K), was from a patient with a severe form of FD, T42A and T42M mutations in exon 2 accounted for more than half of the total number of reported cases of SMA-PME. ASAH1 SNPs (rs7830490, and rs3753118) associated with schizophrenia. | 30029679 |
| 2008 | Schindler disease (type I) | Autosomal recessive | Eye,Bones,Nervous System, ,Muscle | Early | E325K mutation altered the enzyme polypeptide and tertiary conformation | 2243144 |
| 2011 | Sanfilippo syndrome type B | Autosomal recessive | Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Nervous System | Early | p.R74C, p.R245H ,substitution of the small R group of serine with the aromatic R group of tryptophan would thus be predicted to interfere with the active site, and studies of this variant demonstrated a compromise between stability and activity. Y140C, Y455C, P521L, S612G, and R674C), two nonsense mutations (W675X and Q706X) are a few reported mutations. | 19416848 9443875 |
| 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 |
| 2014 | GM1gangliosidis Type I | Autosomal recessive | Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Head,Nervous System | Early | p.R148C/p.R68W,p.G579D/p.G579D,p.R148H/frameshift, p.R351X/p.R351X, reported mutations.R68W mutated allele resulted in no GLB1 activity. L436F: early onset , rapidly progressing,frameshift deletions: c.1069del3/c.1309_1310 delA,c.1303 del c, c.424_428 del4/c.841C>T .R351X :impaired elastogenesis due to destabilization of both beta-galactosidase and S-Gal mRNAs | 21497194 |
| 2015 | GM1gangliosidis Type II | Autosomal recessive | Eye,Bones,Nervous System,Liver,Spleen | Early | p.R148C/p.R68W,p.G579D/p.G579D,p.R148H/frameshift, p.R351X/p.R351X, reported mutations.R68W mutated allele resulted in no GLB1 activity. L436F: early onset , rapidly progressing | 12644936 |
| 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 |
| 2020 | GM2gangliosidosis type II (Sandhoff disease) (HEX B) | Autosomal recessive | Nervous System,Lungs,Eye,Muscle,Skin | Early | c.1538 T > C , c.299 + 5 G > A mutation, which was a splice site mutation: cardiac involvement | 27697305 |
| 2021 | GM2gangliosidosis, AB variant (Tay-Sachs disease, GM2-Activator ) | Autosomal recessive | Nervous System,Eye,Muscle | Early | a three base deletion, AAG262-264,resulting in a deletion of Lys88, and a single-base deletion, A410, that causes a frameshift. The latter results in substitution of 33 amino acids and the loss of another 24 amino acid residues | 8900233 |
| 2023 | Krabbe disease (globoid cell leukodystrophy) | Autosomal recessive | Nervous System,Eye,Ear | Early | residual GALC activity in both leukocyte and skin fibroblast samples from the patient with the L629R mutation, who was diagnosed with late-onset GLD, is indistinguishable from residual GALC activity in infantile patients who have the most severe form of GLD. I234T mutation, which was also found in a late-onset patient, was confirmed to have an undetectable level of residual activity.D528N mutation appears to influence glycosylation, and alter protein processing, secretion, re-uptake and trafficking to lysosomes in a way that reduces GALC function and causes disease | 20410102 |
| 2024 | Gaucher disease Type 1 | Autosomal recessive | Eye,Bones,Liver,Lungs,Hair,Spleen,Nose,Skin | Early | absence of neurological impairment,rarely life threatening. L444P [L483P] in all subtypes. N370S: homozygosity for the mutation is often predictive of milder disease features and is frequent in asymptomatic individuals ,N370S compound heterozygous patients, have the mildest overall disease, p.Asn409Ser, c.84dupG, c.115+1G>A, and p.Leu483Pro account for 90% of the mutated alleles in Ashkenazi Jewish individuals with type 1 GD | 28218669 25345088 |
| 2025 | Gaucher disease Type 2 | Autosomal recessive | Eye, Nervous System, Spleen, Lungs | Early | hepatosplenomegaly and central nervous system involvement within the first year of life,There is no bone involvement in GD2 | 28218669 25345088 |
| 2026 | Gaucher disease Type 3 | Autosomal recessive | Brain, Liver, Eye, Spleen | Early | nervous system involvement in childhood,abnormal eye movements and myoclonic epilepsy | 28218669 25345088 |
| 2027 | Gaucher disease Type 3c | Autosomal recessive | Brain, Liver, Eye, Spleen | Early | cardiac valves, aortic calcification, coronary artery disease and at times hydrocephalus and dysmorphic changes associated with homozygosity for mutation D409H [D448H] | 28218669 |
| 2029 | Mucopolysaccharidosis 9 (MPS9) Natowicz | Autosomal recessive | Nose,Bones,Skin | Early | c.104delT, resulting in a premature termination codon, p.Val35AlafsX25, found in all three affected children, single patient reported till date | 21559944 |
| 2030 | MPS type II (Hunter syndrome) | X-linked recessive | Kidney,Head,Nose,Bones,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System | Early | presence of the pseudogene IDS2( in opposite oreintation) renders molecular diagnosis more difficult to perform.A female MPS II patient may be due to a balanced reciprocal translocation involving one X chromosome, coupled with a skewed XCI of the normal X chromosome | 30442161 |
| 2031 | MPS type III A | Autosomal recessive | weakness of both lower limbs, hypotonia, dysphagia,macroglossia, Café au lait macule, Skin,Hair,Liver,Heart, Brain | Early | p.Arg245His, p.Gln380Arg, p.Ser66Trp, and p.Val361SerfsX52 mutations, which have been found to be related to the development of a severe phenotype, while p.Gly122Arg, p.Arg206Pro, p.Ser298Pro, p.Ile322Ser, and p.Glu369Lys mutations have been reported as being associated with an attenuated phenotype, R206P : pathogenic allele located in active site of the enzyme. New vARIANT from India: c.613G?>?C | 30442161 30023302 |
| 2032 | MPS type 7 | Autosomal recessive | Eye, Brain, Liver, Spleen, Bones, delayed speech | Early | missense polymorphism p.Asp152Asn producing a pseudodeficiency allele that leads to greatly reduced levels of beta-glucuronidase activity (27% of the control) without apparent deleterious consequences | 30442161 |
| 2033 | Aspartylglucosaminuria | Autosomal recessive | Heart,Muscle,Bones,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head | Early | R161Q, C163S: novel restriction endonuclease sites in Finnish Population | 2011603 27906067 |
| 2034 | Batten Disease NCL 1 (CLN1) | Autosomal recessive | Nervous System,Bones,Head,Eye | Early Adult (both) | 49 mutations currently reported | 23747979 |
| 2035 | Batten Disease NCL 2(CLN 2) | Autosomal recessive | Brain, Eye, seizures | Early | R208X and IVS5-1G > C,127Q, N286S, and T353P,performance curves with the N286S mutation slightly diverged from the 95th centile,R127Q mutation fell far beyond the 95th centile,discrete CVP inclusions have been identified in subtrophoblastic blood vessel endothelial cells | 12376936 |
| 2036 | Batten Disease NCL 3(Arginine transporter) | Autosomal recessive | Eye, Brain, epilepsy | Early | the most common being a 1.02 kb homozygous deletion,Death occurs during the late third/early fourth decade in patients carrying the most common homozygous deletion in the CLN3 gene, whereas longer survival is expected for compound heterozygous patients,Cardiac involvement due to storage accumulation, may lead to fatal arrhythmia | 23200925 |
| 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 |
| 2039 | Niemann Pick disease(NPDA) | Autosomal recessive | Eye,Liver,Lungs,Muscle,Spleen,Bones,Skin,Nervous System | Early | The brain of type A NPD patients is usually atrophic.There is a loss of cells in the cerebral and cerebellar cortices of type A infants, along with gliosis in both gray and white matter,Foam cells,present developmental delay, hepatosplenomegaly and progressive neurodegeneration, Nervous System, | 28164782 |
| 2040 | Late infantile neuronal ceroid lipofuscinosis (CLN7) | Autosomal recessive | Seizures,myoclonus, motor impairment with ataxia, speech, mental deterioration, visual failure and characteristic behavioural and sleep disturbances, Eye, Brain | Early | frequency seems to be higher among many Mediterranean populations,Intrafamilial heterogeneity can be present | 23200925 |
| 2042 | Salla disease (Sialin) | Autosomal recessive | Nystagmus, hypotonia, cognitive impairment, Eye,Poor eye contact, ataxia associated to general muscle hypotony are the first signs | Early | Finnish SD patients are homozygous for R39C | 26171070 |
| 2043 | Multiple sulphatase deficiency (C?-formylglycine-generating enzyme) | Autosomal recessive | Nervous System,Skin, Bone | Early | The mildest phenotype presented in the patient with FGE G263V, which is associated with the highest residual FGE activity.FGE G263V, though present at only rather low intracellular levels, can be assumed to truly perform this residual activity. | 21224894 |
| 2044 | Aspartylglycosaminuria (AGU) | Autosomal recessive | Nervous System, skeletal abnormalities and connective tissue lesions, Bone | Early | G172D mutant essentially has no hydrolase activity.T203I mutant protein showed a small but significant level of hydrolase activity | 25456816 |
| 2046 | Niemann-Pick disease(type C1 / chronic neuronopathic formD) | Autosomal recessive | Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dysphagia, Liver, Spleen | Early | I1061T typically present with juvenile-onset neurological disease. | 27026653 |
| 2047 | Niemann-Pick disease(type C2) | Autosomal recessive | Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dysphagia, Liver, Spleen | Early | homozygous pathogenic mutation c.441?+?1G>A | 29928259 |
| 2048 | Lysosomal Acid Lipase Deficiency | Autosomal recessive | Liver, Spleen, Failure to thrive | Early | the childhood/adult-onset form of LALD and has never been observed in infantile-onset disease, which is likely explained by higher residual enzyme activity of this allele: ?1 copy of the c.894G>A mutations(Splice- junction mutation common) | 28804516 |
| 2049 | Chediak Higashi Syndrome | Autosomal recessive | Eye, Hair , Skin Lung | Early | Nonsense mutation : c.1540 C>T, CGA>TGA, R514X in exon 5 and a one base pair deletion (del c.9893T, F3298fsX3304) in exon 43, coding for part of the CHS1 protein's BEACH domain, these two newly described mutations are expected to give rise to a severe phenotype | 15896657 |