Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, progressive neurological disease, which causes white matter in the brain to waste away (leukodystrophy), resulting in lesions in certain brain areas due to variants in the CSF1R gene (colony-stimulating factor-1 receptor).
Auditory neuropathy spectrum disorder, or ANSD, is a relatively new condition that results in hearing loss. It can affect your ability to hear speech properly and completely understand it.
A rare childhood form of tracheomalacia, congenital tracheomalacia affects cartilage surrounding the windpipe (trachea) at birth. A collapsed trachea causes difficulty breathing as the infant breathes out. A patient may experience mild to severe shortness of breath (especially while exercising or eating), loud breathing (stridor), blue skin (cyanosis), and recurring airway infections.
Fibrillary glomerulonephritis (GN) is a rare kidney disease of the glomerulus, where waste is filtered. Several fibril proteins plug the glomerulus, causing inflammation. Proteinuria and hematuria are the most common cause of red/foamy urine in adults. This typically affects people between the ages of 41-80. Some people also experience decreased kidney function (renal insufficiency), swelling of their legs and feet, and high blood pressure (hypertension).
GPT2 (glutamate pyruvate transaminase 2 deficiency) deficiency leads to intellectual disability as well as progressive motor dysfunction due to a genetic, neurological, and metabolic disorder. As a result, this deficiency adversely affects the growth of the brain. Synapses, or connections between neurons, are essential to the development of the brain.
Known as KdVS, Koolen-de Vries syndrome is a rare genetic disorder. Children with this condition may have feeding difficulties in infancy, muscular weakness (hypotonia) in early childhood, developmental problems, language/speech delays, learning disabilities, mild to moderate intellectual disabilities, epilepsy, characteristic facial features, farsightedness, hearing impairment, flexible joints, flat feet, and spinal curvatures.
In large granular lymphocyte leukemia, the number of large granular lymphocytes in the peripheral blood increases over time. In LGLL, however, large granular lymphocytes do not die off as expected, as they should alongside skin cells, liver cells, and immune cells. LGLL progresses slowly and leads to infection, anemia, and easy bleeding.
Liddle syndrome is a rare genetic disorder that causes high blood pressure (hypertension) due to abnormal kidney function. A mutation in one of 3 genes (SCNN1A, SCNN1B, and SCNN1G) encodes the epithelial sodium channel (ENaC), causing this disorder. It is monogenic hypertension, meaning that a mutation in just one gene (SCNN1A, SCNN1B, or SCNN1G) is sufficient to cause it.
An immunotactoid glomerulopathy is a rare kidney disease that affects the glomerulus, where blood and waste are filtered. Microtubule proteins cause damage to the glomerulus.
The MAPK8IP3-related neurodevelopmental disorder is a rare genetic condition caused by harmful changes (pathogenic variants) in the MAPK8IP3 gene, leading to neurodevelopmental disease.
A MOG antibody disease (MOGAD) is an immune-mediated neurological disorder characterized by inflammation of the optic nerve, spinal cord, and brain. Myelin oligodendrocyte glycoprotein (MOG) is a protein, which is located on the surface of myelin sheaths in the central nervous system. In this disease, MOG is a target of the immune system, but its function is unknown.
A rare childhood epilepsy syndrome, myoclonic atonic epilepsy (MAE), is characterized by strong, jerking muscle contractions that are followed by sudden muscle limpness. Individuals with this disorder often experience other seizure types besides myoclonic-atonic seizures. Men are affected at a rate nearly three times higher than women, but no specific gene has been identified for MAE.
The Pendred syndrome occurs rarely in children. It is usually associated with hearing loss in both ears (often at birth) and goiter, an enlarged thyroid gland in the neck. Goiters typically develop in the teenage years but may appear earlier or later. Pendred syndrome results from a lack of pendrin, a protein that keeps salt levels balanced in the kidney, ear, and thyroid.
The perivascular epithelioid cell neoplasm (PEComa) is a rare soft tissue tumor. They frequently form around small blood vessels (perivascular spaces) in various body parts such as the lungs, GI tract, kidneys, liver, and uterus. PEComas have some features that are shared with melanocytes and smooth muscle cells and are comprised of cells with an epithelioid (cuboidal) shape.
The Perrault syndrome is a rare genetic disorder that results in sensorineural hearing loss in both men and women, as well as ovarian dysfunction in women. The majority of cases are female, with about 100 reported so far.
In the PIK3CA-related overgrowth spectrum (PROS), several body parts grow beyond their normal size due to mutations in the PIK3CA gene. Proteins produced by this gene are involved in regulating cell growth, division, and survival.
A rare genetic skeletal disorder, Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) is caused by mutations (changes) in a gene named membrane-bound transcription factor peptidase, site 1 (MBTPS1). MBTPS1 contains the information for site-1 protease (S1P), which is one of the main regulators of cell activity. Those affected have low birth weight and delayed growth milestones.
The Smith-Kingsmore syndrome (SKS) is a rare, neurodevelopmental disorder caused by mutations in the MTOR gene. SKS affects the digestive, endocrine, metabolic, and nervous systems. Patients with SKS have a range of medical, intellectual, and behavioral disabilities resulting in different and variable clinical outcomes. Research shows people with SKS have intellectual disability, developmental delay, large brain size (megalencephaly), and seizures. The type of MTOR gene mutation of the patient affects the symptoms.
Tracheobronchomalacia (TBM) occurs when a weak airway collapses during breathing. It can present as a cough, shortness of breath, and/or recurrent infections at birth or in adulthood. TBM surgery significantly eases symptoms, according to studies.
A genetic disorder called 48, XXYY affects males and is characterized by an added sex chromosome compared to a typical 46, XY male karyotype.