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Deficiency of N-glycanase 1
Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Glycogen storage disease type 13
Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive…
Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
Idiopathic pulmonary hemosiderosis
Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis)….
Spinocerebellar ataxia 34
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1955 Definition An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Epidemiology…
Amyloidosis familial visceral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85450 Definition A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several…
Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
Congenital analbuminemia
Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients…
ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Genetic steroid-resistant nephrotic syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 656 Definition A rare disorder characterized by a nephrotic syndrome with often early onset. Epidemiology Prevalence in the general population is unknown. Clinical description The nephrotic syndrome is defined by severe proteinuria with low serum…
Ankyloblepharon filiforme imperforate anus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1074 Definition An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) is a rare condition that can affect a person’s ability to hear. Although sounds enter the inner ear normally, signals from the inner ear to the brain are not transmitted properly. As a result, the condition may be associated with mild to severe hearing loss and poor speech-perception abilities (difficulty understanding…
Atelosteogenesis type 2
Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inwardand upward-turning foot (clubfoot),…
Ulnar-mammary syndrome
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development…
Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.[2310] There are four main types of EB, which are classified based on the depth, or level, of…
Sezary syndrome
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary…
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; “crumpled”-looking ears; and curvature of the spine (kyphoscoliosis). Enlargement (dilation) of the aorta and other features might also…
Saito Kuba Tsuruta syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2256 Definition Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations…
Stoll Alembik Finck syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3200 Definition A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring…
Spastic paraplegia 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may…
Neurofaciodigitorenal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2673 Definition Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and…
Phacomatosis pigmentovascularis
Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks.[1] Signs and symptoms may include port wine stain, melanocytic nevi (commonly known as moles), epidermal nevi, dermal melanocytosis (areas of blue-gray discoloration), nevus spilus, and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and café au lait…
Watermelon stomach
Watermelon stomach is a condition in which the lining of the stomach bleeds, causing it to look like the characteristic stripes of a watermelon when viewed by endoscopy. Although it can develop in men and women of all ages, watermelon stomach is most commonly observed in older women (over age 70 years). Signs and symptoms…
Toxocariasis
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis when the larvae…
Hereditary sensory and autonomic neuropathy type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 970 Definition A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves. Epidemiology To date, less than 100 cases have been reported. There is no…
Urocanase deficiency
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Phosphoglycerate mutase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97234 Definition Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of…
Hereditary methemoglobinemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 621 Definition A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). Clinical description In RCM type 1,…
X-linked intellectual disability short stature – obesity
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3055 Definition X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further…
16p11.2 duplication
16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may…
Severe X-linked intellectual disability, Gustavson type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3078 Definition A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted…
Microtia eye coloboma and imperforation of the nasolacrimal duct
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139450 Definition This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Epidemiology So far, it has been described in only one family. Etiology The phenotype is associated…
Popliteal pterygium syndrome, Bartsocas-Papas type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1234 Definition Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws…
Migraine with brainstem aura
Migraine with brainstem aura (MBA) is a type of migraine headache with aura that is associated with pain at the back of the head on both sides. An aura is a group of symptoms that generally serve as a warning sign that a bad headache is coming. Auras may consist of dizziness and vertigo, slurred speech, ataxia,…
Benign multicystic peritoneal mesothelioma
Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely,…
Intestinal pseudo-obstruction
Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified…
Mollaret meningitis
Mollaret meningitis is a type of meningitis due to a viral infection (aseptic meningitis) that occurs multiple times.[1] It is characterized by repeated episodes of meningitis, typically lasting two to five days, occurring weeks to years apart.[1][2] Common signs and symptoms during an episode may include severe headache, fever, nausea, vomiting, sensitivity to light (photophobia),…
Trichinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 863 Definition Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral…
Hyperinsulinism due to glucokinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79299 Definition Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for…
Brachydactyly with hypertension
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Hypoaldosteronism
Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. The symptoms of this condition include low sodium (hyponatremia), too much potassium (hyperkalemia), and a condition where the body produces too much acid (metabolic acidosis). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal…
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a neurological disorder characterized by progressive (worsening) weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle…
BOD syndrome
BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first…
Idiopathic hypertrophic pachymeningitis
Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord.[1][2] IHP can be widespread or cause tumor-like lesions.[1] Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases ( rheumatoid arthritis, Sjogren’s…
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual…
Insulin-resistance type B
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2298 Definition Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context…
MED23
MED23 is a gene that plays a role in brain development. Mutations in MED23 cause difficulty swallowing, screaming spells, reflux, and gastrointestinal problems in infants. Children with MED23 gene mutations have profound learning and developmental delays impairing muscle control, mobility, communication, and speech. MED23 gene mutations do not cause changes in growth or physical appearance….
Chronic active Epstein-Barr virus infection
Chronic active Epstein-Barr virus infection (CAEBV) is a very rare complication of an Epstein Barr virus (EBV) infection. Symptoms of CAEBV may include fever, swollen lymph nodes, and an enlarged liver and/or spleen. More serious complications may include anemia, nerve damage, liver failure, and/or interstitial pneumonia. Symptoms may be constant or come and go, and…
Kallmann syndrome 1
Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. This disorder is a form of hypogonadotropic…
Ulerythema ophryogenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3406 Definition Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults,…
Cantu syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1517 Definition Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Epidemiology To date, fewer than 30 cases have been reported. Clinical description Dysmorphic features include macrocephaly and a coarse…
L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance…
Cardiac-Valvular Ehlers-Danlos syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 230851 Definition Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve…
Late-onset distal myopathy, Markesbery-Griggs type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98912 Definition A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with…
Osteogenesis imperfecta type II
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 216804 Definition Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with…
Tracheobronchopathia osteoplastica
Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have…
Unicentric Castleman disease
Unicentric Castleman disease (UCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is “localized” to a single set of lymph nodes (as opposed to multicentric Castleman disease which has more widespread effects). UCD often starts as an enlarged lymph node. Depending on the…
SRD5A3-CDG (CDG-Iq)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324737 Definition SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular…
Lymphedema and cerebral arteriovenous anomaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86914 Definition Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. Visit…
Cerebellar ataxia ectodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1174 Definition Cereballar ataxia ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Visit the Orphanet disease page…
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