Permanent neonatal diabetes mellitus (PNDM) is a rare genetic condition that affects infants and is characterized by the early onset of diabetes. PNDM is caused by mutations in certain genes that are involved in the regulation of insulin production and…
The SLC22A12 gene is associated with a condition known as hypouricemia, which is characterized by low levels of urate in the body. This gene encodes for a carrier protein that plays a crucial role in the reabsorption of urate in…
Small fiber neuropathy (SFN) is a condition characterized by damage to the small nerve fibers that transmit pain and temperature signals from the skin to the brain. It can cause a range of symptoms including burning pain, tingling, and loss…
The PLOD1 gene is responsible for encoding the enzyme procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (LH1), which plays a crucial role in the hydroxylation of lysyl residues in collagen. This gene is one of the rare genes associated with Ehlers-Danlos syndrome, a group…
Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a rare genetic condition that affects the myelin, a substance that surrounds and protects nerve fibers within the central nervous system. This condition is also called HBSL leukodystrophy.…
X-linked dystonia-parkinsonism is a rare genetic condition that causes muscle stiffness and involuntary twisting movements, known as dystonia. It primarily affects individuals of Filipino descent, with the highest frequency of cases reported in the Philippines. This condition is also referred…
The MCEE gene is related to methylmalonic acidemia. Methylmalonic acidemia is listed in the Genetic and Rare Diseases Information Center (GARD) registry as well as in other databases. This gene is one of the genes listed in the GeneTests Laboratory…
The CDKN1C gene, also known as cyclin-dependent kinase inhibitor 1C, is located on chromosome 11p15.5. Mutations in this gene have been found to be associated with several conditions and syndromes, including Beckwith-Wiedemann syndrome, the IMAGe syndrome, and Silver-Russell syndrome. The…
The DSP gene, also known as the desmoplakin gene, is associated with several diseases and conditions. It is an idiopathic gene that can cause abnormal conditions in various tissues and organs, including the heart. Without proper functioning of the DSP…
X-linked agammaglobulinemia (XLA) is a rare genetic condition that affects the immune system. It is caused by a variant in a gene called Bruton tyrosine kinase (BTK). Individuals with XLA have a deficiency of B cells, which are responsible for…