22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.
4H Leukodystrophy involves hypomyelination with hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3 Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. Here is the latest research on this disease.
Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.
Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.
Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.
Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.
Bullous pemphigoid is a rare immune system disorder and skin condition that causes large, fluid-filled blisters. Bullous pemphigoid commonly affects older adults and appears in areas such as the lower abdomen, upper thighs or armpits. Discover the latest research on bullous pemphigoid here.
Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research on CLOVES syndrome.
Castleman disease is a rare disorder that involves an overgrowth of cells in the lymph nodes. Unicentric Castleman disease affects one lymph node, usually in the chest or abdomen. Multicentric Castleman disease affects multiple lymph nodes, commonly located in the neck, collarbone, underarm and groin areas. Discover the latest research on Castleman disease here.
Cerebral creatine deficiency syndromes is a group of rare inherited disorders with three variants: Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase Deficiency (GAMT) and L-Arginine: Glycine Amidinotransferase Deficiency (AGAT). Discover the latest research here.
Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by loss of muscle and touch sensation. Discover the latest research on CMT here.
Chordoma is a rare bone tumor localized along the spinal cord, often at the base of the skull, making them difficult to diagnose and treat. Follow this feed to discover the latest research on chordoma.
Chromosome 8p disorders are rare genetic conditions in which the number or structure of the short arm of chromosome 8 is altered. This can results in a wide range of disorders due to the variety of genes located on chromosome 8. Find the latest research on chromosome 8p disorders here.
Chronic Granulomatous Disease is an inherited immunodeficiency disorder that is characterized by recurrent infections and granuloma formation. Discover the latest research on Chronic Granulomatous Disease here.
Chronic recurrent multifocal osteomyelitis is a rare disorder characterized by auto-inflammation within the bone. Follw the latest insights into this disorder with this feed.
Churg-Strauss syndrome, also known as eosinophilic granulomatosis with polyangiitis (EGPA) or allergic granulomatosis, is an extremely rare autoimmune condition that causes inflammation of small and medium-sized blood vessels (vasculitis) in persons with a history of airway allergic hypersensitivity (atopy). Discover the latest research on Churg-Strauss syndrome here.
Complex lymphatic anomalies include a variety of rare disorders with overlapping clinical, histological and imaging features; they are characterized by abnormal growth of lymphatic vessels in the lungs, pleura, bones or soft tissue. This feed follows the latest research into this group of diseases, which includes Gorham-Stout disease and Kaposiform Lymphangiomatosis.
Congenital hyperinsulinism is caused by genetic mutations resulting in excess insulin secretion from beta cells of the pancreas and causing hyperinsulinaemic hypoglycaemia. Here is the latest research.
Congenital muscular dystrophy comprise of a group of inherited muscular dystrophies that become apparent at or near birth and present as degenerative diseases primarily affecting voluntary muscles. Here is the latest research.
Creutzfeldt-Jakob Disease is a fatal neurodegenerative disease caused by aggregation and accumulation of misfolded prion proteins. Here are the latest discoveries pertaining to this disease.
Cystic fibrosis is an autosomal recessive disease, which is the result of a genetic defect in the cystic fibrosis transmembrane conductance regulator (cftr) gene. Here is the latest research on this disease
DDX3X syndrome is caused by a spontaneous mutation at conception that primarily affects females due to its location on the X-chromosome. DDX3X syndrome has been linked to intellectual disabilities, seizures, autism, low muscle tone, brain abnormalities, and slower physical developments. Here is the latest research.
First reported in 2014, deficiency of adenosine deaminase 2 (DADA2) is a genetic disease affecting the blood vessels and the immune system. This disease results in a range of symptoms that may include recurrent strokes, severe systemic inflammation, immune deficiency, and damage to many of the body's tissues and organs. As an extremely rare condition, there is still much to learn. Find the latest research on DADA2 in this feed.
Epithelioid Hemangioendothelioma is a rare malignant tumor of the epithelial cells that line blood vessels and have been found in the liver, lungs, bone and skin. Gene fusions between transcriptional co-activator with PDZ-binding motif (TAZ) and calmodulin-binding transcription activator 1 (CAMTA1) have been implicated in this disease. Discover the latest research on Epithelioid Hemangioendothelioma here.
Fibrolamellar Hepatocellular Carcinoma is a rare subtype of liver cancer that mainly occurs in younger patients with healthy livers. It is characterized by a frequent gene fusion between DNAJB1 and PRKACA. Discover the latest research on Fibrolamellar Hepatocellular Carcinoma here.
Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is characterized by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. Discover the latest research on Fragile X syndrome here.
Friedreich's ataxia is a rare autosomal recessive disease caused by defects in the FXN gene and characterized by progressive damage of the nervous system and movement problems. Here is the latest research on Friedreich's ataxia.
GRIN Disorder is a rare genetic disease characterized by mutations in genes that encode the NMDA receptor, such as GRIN1, GRIN2A, GRIN2B and GRIN2D. Symptoms include seizures, speech deficiency, and inability to walk. Discover the latest research on GRIN disorders here.
Glioblastoma Multiforme (GBM) is a tumor that develops from astrocytes and oligodendrocytes. Here is the latest research on mechanisms that underlie GBM and associated therapeutic approaches.
Glut1 deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Follow the latest research on Glut1 deficiency with this feed.
Gorham-Stout disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Discover the latest research here.
Granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis (WG), is a long-term systemic disorder that involves the formation of granulomas and inflammation of blood vessels.Discover the latest research on GPA here.
Hereditary hemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, is a genetic disorder characterized by abnormal blood vessel formation. Because it can affect blood vessels in various organs, HHT can cause bleeding in various organs and symptoms can manifest as nosebleeds, skin and mouth lesions, and digestive tract problems. Follow the latest research on HHT here.
Hereditary spastic paraplegia is a neurodegenerative disorder characterized by spastic paraplegia, cognitive impairment, peripheral neuropathy, and progressive spasticity of lower limbs. Here is a latest research.
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by albinism, blood clotting defects, pulmonary fibrosis, and accumulation of ceroid in tissues. Mutations have been documented in 7 different genes, including HPS1, which is involved in pigment production. Discover the latest research on Hermansky-Pudlak Syndrome here.
Hodgkin disease or Hodgkin's lymphoma is a type of lymphoma that affects the lymph system. Here is the latest research on Hodgkin disease.
Huntington's disease is a hereditary neurodegenerative disease characterized by poor coordination and involuntary body movements. Discover the latest research on Huntington's disease here.
Hutchinson-Gilford progeria syndrome is a very rare premature aging disorder that affects children, clinically mimicking physiological aging at a young age. The disease incidence is estimated at 1 in 18 million. Discover the latest research on Hutchinson-Gilford progeria syndrome here.
Infantile neuroaxonal dystrophy (INAD), also known as phospholipase associated neurodegeneration or PLAN, is a genetic neurodegenerative disorder. Symptoms can begin around 6 months to 2 years of age, and may include a loss of previously acquired skills, difficulty walking, crossed eyes and involuntary eye movements, and overactive reflexes. Follow the latest research on INAD here.
KAT6A Syndrome is a rare genetic disorder characterized by mutations in the lysine acetyltransferase 6A (KAT6A). Patients with KAT6A syndrome have a large range of symptoms, including neurodevelopmental delays and heart defects. Discover the latest research on KAT6A Syndrome here.
KIF1A associated neurological disorder (KAND) is a rare neurodegenerative condition caused by mutations in the KIF1A gene. KAND may present with a wide range and severity of symptoms including stiff or weak leg muscles, low muscle tone, a lack of muscle coordination and balance, and intellectual disability. Find the latest research on KAND here.
Kennedy Disease, also known as X-linked bulbospinal muscular atrophy, is a progressive neuromuscular disorder caused by mutations in the androgen receptor gene and characterized by wasting of proximal and bulbar muscles. Follow the research into Kennedy Disease with this feed.
Lennox-Gastaut syndrome is a rare epileptic syndrome characterized by multiple types of seizures, developmental delay, and cognitive impairment. It can be caused by trauma, infections, metabolic disorders, or genetic factors. Find the latest research on Lennox-Gastaut syndrome here.
Li-Fraumeni syndrome in an inherited predisposition to a range of cancers due to a mutation in the tumor suppressor gene TP53. The diagnosis is made if cancer occurs at a young age and there is also a family history of sarcoma or cancer at a young age. Find the latest research on Li-Fraumeni syndrome here.
Lymphangiomatosis is a condition marked by the presence of cysts that result from an increase both in the size and number of thin-walled lymphatic channels that are abnormally interconnected and dilated. Follow the latest research on this condition with this feed.
Marfan syndrome is an autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton. It is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue. Discover the latest research on Marfan syndrome here.
Multiple myeloma is a cancer of the plasma cells, which normally is involved in antibody production. Discover the latest research on Multiple myeloma here.
Necrotizing enterocolitis (NEC) is a devastating disease that primarily affects the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the intestine. Follow the latest research on NEC with this feed.
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations in the NF1 gene. Here is the latest research.
Type 2 Neurofibromatosis are rare inherited autosomal dominant diseases caused by the NF2 gene. It is characterized by the growth of noncancerous tumors in the nervous system, specifically along the auditory nerve. Symptoms include hearing loss, tinnitus, and balance problems. Here is the latest research on Type 2 Neurofibromatosis.
Pearson syndrome is a rare disease that affects the bone marrow and pancreas. It is caused by a mutation in the mitochondrial DNA. Symptoms include pancreatic insufficiency, anemia, neutropenia, and thrombocytopenia which can lead to feeling weak, tired, and bruising more easily. Here is the latest research on Pearson Syndrome.
Peutz–Jeghers syndrome (PJS) is an autosomal dominant genetic disorder characterized by benign gastrointestinal polyps and melanosis. Discover the latest research on PJS here.
Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.
Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by missing or non-working genes on chromosome 15. In infancy, symptoms include hypotonia, feeding difficulties, and delayed development; later on, affected children develop an extreme appetite, typically resulting in obesity. Here is the latest research on this complex multisystem disorder.
Primary ciliary dyskinesia is a rare inherited autosomal recessive disease characterized by dysfunction of motile cilia. Discover the latest research here.
Primary Sclerosing Cholangitis is a progressive liver and gallbladder disease characterized by inflammation and scarring of the bile ducts. Discover the latest research on this disease in this feed.
Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disorder that affects movement, gait, balance, and speech. Discover the latest research on PSP here.
Pseudoxanthoma elasticum is a genetic disorder caued by mutations in the ATP-binding cassette sub-family C member 6 gene (ABCC6) and is characterized by lax skin and retinal hemorrhages. Discover the latest research on pseudoxanthoma elasticum here.
Retinitis pigmentosa is a hereditary, progressive degeneration of the retina due to death of rod photoreceptors initially and subsequent death of cone photoreceptors. It is characterized by deposition of pigment in the retina. Discover the latest research on retinitis pigmentosa here.
Rett syndrome is a severe neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). Discover the latest research on Rett syndrome here.
SLC13A5 deficiency is a rare autosomal recessive disorder caused by mutations in the sodium-coupled citrate transporter gene SLC13A5. It is characterized by infantile seizures and neurodevelopmental delays. Here is the latest on SLC13A5 deficiency.
Sickle cell anemia is a rare inherited blood disorder that is characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Snyder-Robinson syndrome (SRS) is a rare genetic condition which affects only males. SRS is an X-linked syndrome which is caused by malfunctioning of an enzyme, the spermine synthase (SMS). SRS is characterized by intellectual disability, muscle and bone abnormalities, developmental delays, and sometimes other medical problems.
Systemic juvenile idiopathic arthritis is a rare rheumatic disease that affects children. Symptoms include joint pain, as well as fevers and skin rashes. Here is the latest research on this disease.
TANGO2-related metabolic encephalopathy and arrhythmias is a rare inherited autosomal recessive diseaser. It is characterized by episodes of metabolic crises and abnormal heart rhythms (arrhythmia). Here is the latest on this disease and TANGO2 more generally.
Tetralogy of Fallot is a congenital heart defect with an unknown cause which is typically treated by open heart surgery in the first year of life. Symptoms include bluish skin colour, heart murmur, and finger clubbing. Here is the latest research.
Torsion dystonia is a movement disorder characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Here is the latest research.
Usher Syndrome is an inherited disease that causes profound hearing loss at birth and vision loss beginning in adolescence. People with Usher syndrome also have severe balance problems and have trouble sensing changes in speed or direction. They learn to sit and walk independently at a later age than other children. The disease does not affect intelligence, but unfortunately currently has no cure. Here is the latest research on this syndrome.
von Hippel-Lindau syndrome (VHL) is a rare hereditary condition associated with tumors arising in multiple organs. Tumors in VHL include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. Follow the latest research on this disease with this feed.
Wilson’s disease is an autosomal recessive disorder caused by mutation in the ATP7B gene and is characterized by copper build-up in the body. Discover the latest research on Wilson’s disease here.