RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

A comprehensive global genotype–phenotype database for rare diseases

BACKGROUND The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases. ...

Medical case-based reasoning for detecting inborn metabolic defects

Introduction Inborn defects of metabolism are an important field of molecular genetic and clinical research. Together with the fast progress of biotechnological research, the number of diseases that are clearly due to genetic defects increases too. On the basis of modern newborn screening methods, a part of these inborn diseases can be diagnosed and treated at an early stage. In addition, molec...

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry diagnosed with BTBGD found to have compound heterozygous frameshift mutations, one novel. Our repo...