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Primary orthostatic hypotension
Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson’s disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among…
Proopiomelanocortin deficiency
Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone…
Combined malonic and methylmalonic aciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as…
Ocular toxoplasmosis
Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can be acquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or…
Opthalmomandibulomelic dysplasia
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Combined oxidative phosphorylation deficiency 16
Combined oxidative phosphorylation deficiency 16, also know as infantile hypertrophic cardiomyopathy, is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging…
Pemphigus
Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).[1] This condition can occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance,…
Orofacial Granulomatosis
Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face (maxillofacial), in the absence of a recognised systemic condition known to cause granulomas. Features include lip enlargement, swelling inside and around the mouth, oral ulcerations (sores), and inflammation of the gums (gingivitis). There may be only swelling inside the mouth…
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood.[1] This condition is also associated with a group of…
Ovarian remnant syndrome
Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal…
Pityriasis lichenoides
Pityriasis lichenoides (PL) is a skin condition characterized by small, raised pink spots that tend to come together in groups. It is not contagious. There are two main types of PL: an acute form called pityriasis lichenoides et varioliformis acuta (PLEVA), and a milder, longer-lasting form called pityriasis lichenoides chronica (PLC).[1] There is also a rare,…
Paris-Trousseau thrombocytopenia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 851 Definition Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. Visit the Orphanet disease page for more resources.
Pruritic urticarial papules plaques of pregnancy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64745 Definition A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy,…
Pyomyositis
Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the…
Ramos Arroyo Clark syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1051 Definition Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability….
Costello syndrome
Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning…
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71212 Definition Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Epidemiology…
Sandifer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71272 Definition Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. Epidemiology The prevalence is unknown. Clinical description Onset usually occurs during infancy or…
Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss…
Tendons, extensor, of fingers, anomalous insertion of
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3294 Definition Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral…
Spinocerebellar ataxia 4
Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria).[1][2] A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and…
Hashimoto-Pritzker syndrome
Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase…
Spondyloepimetaphyseal dysplasia joint laxity
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Gorham’s disease
Gorham’s disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. Symtoms may include pain, swelling, and increased risk of fracture.[1] It may affect any part of the skeleton, but most commonly…
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome…
Abdominal aortic aneurysm
Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the…
Spondyloepimetaphyseal dysplasia with hypotrichosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168443 Definition Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu…
Glanzmann thrombasthenia
Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms…
Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) is an inborn error of valine (an amino acid) metabolism.[1] The symptoms, which may not develop until later in infancy or childhood, can include failure to thrive, dilated cardiomyopathy, seizures, and anemia.[2][3] IBD deficiency is caused by mutations in the ACAD8 gene.[1][2] It is inherited in an autosomal recessive manner.[2][3] Treatment may include the use of L-carnitine…
Fetal retinoid syndrome
Fetal retinoid syndrome is a characteristic pattern of physical birth defects in a baby that has been exposed to retinoids during pregnancy. The best-known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne.[1] Babies exposed to retinoids during pregnancy may have a wide variety of symptoms. Some may have no symptoms at all, others…
Thanatophoric dysplasia type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1860 Definition Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. Epidemiology The prevalence is unknown but it is more common…
Grubben de Cock Borghgraef syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2101 Definition Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by preand postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands…
Pyramidal molars-abnormal upper lip syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2561 Definition A rare syndrome characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont…
Froster-Huch syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2141 Definition Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. Epidemiology It has been reported only once in four…
Acrodermatitis enteropathica
Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances…
Xanthinuria type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93601 Definition Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia…
Diffuse gastric cancer
Diffuse gastric cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma),…
Virus associated hemophagocytic syndrome
Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting…
Disseminated superficial actinic porokeratosis
Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly patches.[1] Symptoms include a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the lower arms and legs).[1][2] DSAP usually starts during the third or fourth decade of life and rarely…
Warfarin resistance
Warfarin resistance is a condition that is characterized by a high tolerance for a “blood-thinning” medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. Some people with a warfarin resistance do not respond to the drug at all, while others can achieve…
Infection-induced acute encephalopathy 3
Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE). ANE refers to the brain lesions that develop within days following the onset of an acute viral illness caused by influenza A, influenza B, parainfluenza II, human herpes virus 6, coxsackie virus, or an enterovirus.[1] Although most cases occurs before six years…
Adenocarcinoma of the appendix
Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common…
X-linked dystonia-parkinsonism/Lubag
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53351 Definition X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. Epidemiology…
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching.[2310] In EB simplex with mottled pigmentation,…
PAGOD syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 991 Definition PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Epidemiology Since the first publication in 1991, only 11 patients have…
Oculocutaneous albinism type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79433 Definition Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population. Epidemiology OCA3 has an estimated…
Lowry Wood syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1824 Definition A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature….
Ambras syndrome
Ambras syndrome is a very rare type of hypertrichosis lanuginosa congenita, a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Individuals with Ambras syndrome have excessive growth of vellus (soft, fine and short) hair, especially on the face, ears, and shoulders.[1][2]…
Herpes zoster oticus
Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and in whom the varicella-zoster virus becomes active again.[1] Herpes zoster oticus is caused by the spread of the virus to facial nerves and…
Oto-palato-digital syndrome type 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90652 Definition A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system,…
Familial cutaneous collagenoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53296 Definition Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence….
Aniridia absent patella
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1069 Definition A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother…
Ankylosing spondylitis
Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back…
Hypocomplementemic urticarial vasculitis
Hypocomplementemic urticarial vasculitis (HUV) is a rare form of vasculitis characterized by inflammation of the small blood vessels and low levels of complement proteins in the blood. HUV causes recurrent episodes of hives (urticaria) and painful skin lesions that itch or burn.[1] Individuals with HUV may also have systemic, multiorgan involvement, causing arthritic joint pain; pulmonary (lung)…
Sphingosine phosphate lyase insufficiency syndrome
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a very rare condition that affects the kidneys, adrenal glands and nervous system. Symptoms vary from individual to individual, but most people with SPLIS have signs of abnormal kidney and adrenal gland function, which can include a buildup of extra fluid, vomiting and diarrhea. Some people with SPLIS…
Waterhouse–Friderichsen syndrome
Waterhouse–Friderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock.[1] Most patients with this condition are children, although adults may rarely be affected.[2] It is deadly if not treated immediately.[1][2]
Chiari malformation type 2
Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord).[1] CM type II is usually accompanied by a myelomeningocele (a form of spina bifida that occurs when the spinal canal and…
Wyburn-Mason syndrome
Wyburn Mason’s syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason’s syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other…
Ostium secundum atrial septal defect
An ostium secundum atrial septal defect is a type of congenital heart defect called an atrial septal defect (ASD). An ASD is a hole in the wall (septum) between the two upper chambers of the heart (the atria). ASDs can be classified by location. An ostium secundum ASD is a hole in the center of…
Game Friedman Paradice syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3035 Definition Growth delay hydrocephaly lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped…
Generalized peeling skin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263543 Definition Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B)…
SYNGAP1-related non-syndromic intellectual disability
SYNGAP1-related non-syndromic intellectual disability is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes (mutations) in the SYNGAP1…
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