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Glucocorticoid-remediable aldosteronism
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high…
Acral peeling skin syndrome
Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear…
VIPoma
A VIPoma is a rare cancer caused by a type of pancreatic neuroendocrine tumor, which is tumor that arises from cells that produce hormones allowing the tumor itself to produce hormones. A VIPoma secretes vasoactive intestinal peptide (VIP), a hormone that stimulates the secretion (and inhibits the absorption) of sodium, chloride, potassium and water within the small…
Gianotti Crosti syndrome
Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are…
Urachal cyst
A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older…
Mal de debarquement syndrome
Mal de debarquement syndrome is a neurological disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness,…
ACTH-independent macronodular adrenal hyperplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189427 Definition A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent…
Acute myeloblastic leukemia with maturation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98834 Definition A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater…
X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. The muscle problems impair the development…
Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonicatonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures…
Dyschromatosis universalis hereditaria
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 241 Definition A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyperand hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles…
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal…
21-hydroxylase deficiency
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). CAH is a group of disorders that affect how the adrenal glands work. In 21-hydroxylase deficiency, a missing enzyme leads to overproduction of specific hormones made by the adrenal glands. There are three types of 21-hydroxylase deficiency that vary by the severity of symptoms….
Afibrinogenemia
Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor I), which is needed for the blood to clot.[1][2] Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and…
Aland island eye disease
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Ainhum
Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not…
Extramammary Paget disease
Extramammary Paget disease (EMPD) is characterized by a chronic eczema-like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease.[1] The primary difference between the two is the location of the rash. While the location…
ALG13-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324422 Definition A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene…
Epilepsy progressive myoclonic type 3
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Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma)…
Fetal aminopterin syndrome
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Exercise-induced anaphylaxis
Exercise-induced anaphylaxis (EIAn) is a rare disorder in which anaphylaxis occurs in association with physical activity. Food-dependent exercise-induced anaphylaxis is a subset of this disorder in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise…
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork. Weakness, fatigue, issues with concentration, and excessive thirst…
FLOTCH syndrome
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Anonychia congenita
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79143 Definition Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission,…
Spastic paraplegia 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100988 Definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as…
Antley Bixler syndrome
Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent…
Wolman disease
Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency.[1] The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and…
Fetal valproate syndrome
Fetal valproate syndrome (FVS) may occur if a developing baby is exposed to valproic acid during pregnancy. Valproic acid, also known as valproate, is a medication that is often used to treat epilepsy, bipolar disorder, and migraines. Many babies who are exposed to this medication during pregnancy are born healthy with normal growth and development….
Spinocerebellar ataxia autosomal recessive 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88644 Definition A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal…
Chiari malformation type 1
Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance, and the skull. The malformation occurs when the lower part of the cerebellum extends below the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving…
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia (FMD) is a genetic disorder characterized by abnormalities in skeletal development and problems in other organs of the body.[1][2] It is part of a group of diseases called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss (due…
Astroblastoma
Astroblastoma is a rare glial tumor usually located in the cerebral hemisphere of the brain.[1] It can occur in individuals of any age, but occurs predominantly in children and young adults.[2] Signs and symptoms depend on the location and size of the tumor but most commonly include headaches and seizures.[1] Because these tumors are rare,…
Gaucher disease type 2
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the…
Ausems Wittebol-Post Hennekam syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1995 Definition Cleft lip retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. Visit the Orphanet disease page for more resources.
Spastic paraplegia 10
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100991 Definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or…
Glutathione synthetase deficiency
Glutathione synthetase deficiency is a genetic metabolic disorder that affects the body’s ability to produce an important substance called glutathione. People with glutathione synthetase deficiency do not have enough of the molecule called glutathione synthetase, which helps the body produce glutathione. People with glutathione synthetase deficiency can have mild, moderate, or severe disease. The signs and symptoms…
Radial ray hypoplasia choanal atresia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3026 Definition An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. Epidemiology It has been reported in a father and his two daughters. Clinical description The radial ray involvement varies…
Corneal dystrophy Avellino type
Corneal dystrophy, Avellino type is an inherited condition that affects the stromal or central layer of the cornea. It results in the development of small particles or granules (like breadcrumbs) on the cornea (known as granular corneal dystrophy) and the development of lesions that resemble cracked glass (known as lattice corneal dystrophy). These eye lesions usually…
Hemochromatosis type 3
Hemochromatosis type 3 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms…
Bamforth syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1226 Definition A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have…
Hepatic veno-occlusive disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 890 Definition Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. Epidemiology Prevalence is unknown but hepatic VOD…
Leukonychia totalis
Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate.[1] It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person’s lifetime.[2] The inherited forms can be caused by mutations in the PLCD1 gene…
Santos Mateus Leal syndrome
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Bednar tumor
Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red…
Morse-Rawnsley-Sargent syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2570 Definition Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine…
Bethlem myopathy
Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles.[1][2] Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in…
Hyperacusis
Hyperacusis is a hearing disorder that results in difficulty tolerating sounds that would not bother most people. This condition may occur due to many different causes, such as head injury, viral infections, or neurological disorders. In some people with hyperacusis, sounds are perceived as being much louder than they would be by someone without this disorder….
Hyperprolinemia type 2
Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a…
Bixler Christian Gorlin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2213 Definition Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Epidemiology Nine cases have been reported in the literature in…
Hypoplastic right heart syndrome
Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart…
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is present at birth and mainly involves the development of the eyelids. Symptoms of BPES include a narrow eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the lower eyelid (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because the eyelids cannot open…
Specific antibody deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70593 Definition Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). Epidemiology Although the prevalence is not really known, around 100 cases have…
Brachydactyly elbow wrist dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1275 Definition Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly….
Lupus erythematosus tumidus
Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus.[1] Tumid erythematosus lupus is characterized by smooth, non-scarring, pinkto violet-colored pimples (papules) on the skin without any other apparent skin changes, such as scarring. Patients…
Riboflavin transporter deficiency
Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time.[1][2] When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it…
Spondylothoracic dysostosis
Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs.[1] The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is…
Calvarial hyperostosis
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King Denborough syndrome
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.[1] Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core…
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:[1][2][3] Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement Areflexia: loss of reflexes …
PMM2-CDG (CDG-Ia)
Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal…
Leiomyosarcoma
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells.[1] Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear…
White sponge nevus of cannon
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171723 Definition White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both…
Liposarcoma
Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, legs, behind the knee, or in the abdomen, but it can be found in other parts of the body, in the retroperitoneum; and, less often, in the head and neck area. Their primary occurrence in the skin is rare. Because a liposarcoma may…
Craniosynostosis, anal anomalies, and porokeratosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85199 Definition Craniosynostosis anal anomalies porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption…
Median arcuate ligament syndrome
Median arcuate ligament syndrome (MALS) is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal…
17-beta hydroxysteroid dehydrogenase 3 deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are…
Rare Immunology News