In 2007, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) began using the umbrella term urologic chronic pelvic pain syndrome (UCPPS) to refer to pelvic pain syndromes associated with the bladder (e.g., interstitial cystitis/bladder pain syndrome) and with the prostate gland or pelvis (e.g., chronic prostatitis/chronic pelvic pain syndrome). [61] In 2008, terms currently in use in addition to IC/BPS include painful bladder syndrome , bladder pain syndrome and hypersensitive bladder syndrome , alone and in a variety of combinations. ... Overactive bladder Trigger point —a key to myofascial pain syndrome. References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t u v w x "Interstitial cystitis/bladder pain syndrome fact sheet" . ... "Interstitial Cystitis/Painful Bladder Syndrome" . National Institutes of Health. ... "Interstitial Cystitis and Pelvic Pain Syndromes" . A Seat on the Aisle, Please! ... "Diet and its role in interstitial cystitis /bladder pain syndrome (IC/BPS) and comorbid conditions".
The condition is a part of a spectrum of diseases known as painful bladder syndrome. Your bladder is a hollow, muscular organ that stores urine. ... Interstitial cystitis may be associated with other chronic pain disorder, such as irritable bowel syndrome or fibromyalgia. Complications Interstitial cystitis can result in a number of complications, including: Reduced bladder capacity.
It is characterized by varying combinations and extent of pain, urinary frequency (pollakisuria), nocturia and urgencyInterstitial cystitis (IC) has a broad intersection with Bladder Pain Syndrome (BPS) and Overactive Bladder (OAB).
Clinical Features Horvath et al. (2006) identified 10 individuals with Cushing syndrome and adrenocortical hyperplasia who did not have PRKAR1A mutations. ... Molecular Genetics In affected members of 2 unrelated families with adrenal Cushing syndrome due to PPNAD2, Horvath et al. (2006) identified 2 different heterozygous mutations in the PDE11A gene (604961.0001; 604961.0002). ... Horvath et al. (2006) concluded that the pathophysiologic mechanism is linked to increased cAMP levels, as seen in patients with McCune-Albright syndrome (MAS; 174800) and PPNAD1. INHERITANCE - Autosomal dominant GROWTH Weight - Truncal obesity HEAD & NECK Face - Round face CARDIOVASCULAR Vascular - Hypertension SKELETAL - Decreased bone mineral density - Osteoporosis Spine - Kyphosis SKIN, NAILS, & HAIR Skin - Thin skin - Striae - Easy bruising NEUROLOGIC Central Nervous System - Cognitive decline Behavioral Psychiatric Manifestations - Mood changes - Depression - Agitation - Anxiety - Psychosis ENDOCRINE FEATURES - Cushing syndrome - Pigmented micronodular adrenocortical disease - ACTH-independent hypercortisolemia - Adrenal glands may be normal, atrophic, or slightly enlarged LABORATORY ABNORMALITIES - Increased serum cortisol - Paradoxical increased cortisol secretion on dexamethasone suppression test - Decreased serum ACTH MISCELLANEOUS - Onset in childhood or young adulthood - Manifestations of Cushing syndrome may be mild - Genetic heterogeneity, see PPNAD1 ( 610489 ) MOLECULAR BASIS - Caused by mutation in the phosphodiesterase 11A gene (PDE11A, 604961.0001 ) ▲ Close
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). Epidemiology The prevalence of endogenous Cushing syndrome (CS; see this term) is estimated at 1/26,000.
A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome (Chr17:55.46-57.69 Mb). Clinical Features Alvarado et al. (2010) identified a recurrent chromosome 17q23.1-q23.2 microduplication in 3 of 66 probands with familial idiopathic clubfoot. ... INHERITANCE - Autosomal dominant SKELETAL Pelvis - Hip dysplasia - Acetabular dysplasia - Coxa valga - Genu valgum - Tall, narrow ilium - Thickened inferior pubic ramus (ischium) - Infra-acetabular axe-cut notches - Lack of normal iliac flare Feet - Short and thickened first and/or second metatarsal - Short calcaneus - Hypoplastic distal tibial epiphysis - Tufted distal phalanx of the first toe - Clubfoot - Talipes equinovarus SKIN, NAILS, & HAIR Nails - Nail hypoplasia Hair - Tufted distal phalanx of the first toe MISCELLANEOUS - Contiguous gene duplication syndrome MOLECULAR BASIS - Contiguous duplication of 2.2Mb on chromosome 17q23.1-q23.2 ▲ Close
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. Epidemiology It has been described in three families. Clinical description All cases with clubfoot were male and clubfoot was bilateral in all except one case. Clinically, the feet were short, with broad and overlapping toes. Mild nail hypoplasia was present in two affected individuals and mild short stature was common. Genetic counseling The microduplication segregated with autosomal-dominant clubfoot in all three families but with incomplete penetrance. This microduplication was identified by array CGH (comparative genomic hybridization).
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities. ... Unlike chorea-acanthocytosis and McLeod neuroacanthocytosis syndrome (see these terms), deep tendon reflexes are usually brisk. ... Diagnostic methods Diagnosis is based on analysis of the JPH3 gene in the presence of a clinical syndrome consistent with HDL2. Acanthocytosis is found in about 10% of patients and CK levels are normal. ... Differential diagnosis Differential diagnoses include chorea-acanthocytosis, McLeod neuroacanthocytosis syndrome, Huntington disease, Huntington-like disorders, juvenile Parkinson's disease and Tourette's syndrome (see these terms).
Postmortem examination of the brain showed severe, diffuse cortical atrophy and severe atrophy of the caudate and putamen, as well as ubiquitinated intranuclear inclusions with immunoreactivity for expanded polyglutamine repeats throughout the brain. His son, who had fragile X syndrome (300624), developed gait abnormalities, chorea, and dystonia in his late twenties.
Her son age 30 years had developed Cogan's syndrome, an autoimmune disease resulting in complete hearing loss, at age 25 years. He complained of tinnitus, occasional lapses of concentration, and difficulty with balance, all associated with the onset of Cogan's syndrome. Examination suggested possible cerebellar involvement. ... Reduced-penetrance alleles that result in very late-onset disease and/or a different phenotype and/or no occurrence of clinical disease in a normal life span Full-penetrance (disease-causing) alleles. 40 CTG repeats or greater. In the presence of a clinical syndrome consistent with HDL2, an allele with 40 or more CTG repeats is considered diagnostic of HDL2. ... AR AD mt Chorea Cognitive impairment MRI necrosis Pyruvate/lactate abnormalities McLeod neuroacanthocytosis syndrome XK XL Cognitive impairment Psychiatric symptoms Chorea Acanthocytosis, compensated hemolysis, & McLeod blood group phenotype Seizures Peripheral neuropathy Hyporeflexia Cardiomyopathy Hepatosplenomegaly Parkinsonian conditions (see Parkinson Disease) See footnote 3.
Infrapatellar fat pad syndrome Other names Hoffa's disease [1] Cross section of the human knee Specialty Orthopedics , sports medicine Symptoms Pain in the front of the knee [2] Causes Trauma, surgery [1] Differential diagnosis Patellar tendinopathy , infrapatellar bursitis [2] Treatment Steroid injections, physical therapy , surgery [2] [1] Frequency Relatively common (athletes) [2] Infrapatellar fat pad syndrome , also known as Hoffa's disease , is when pain in the front of the knee occurs due to problems with the infrapatellar fat pad . [2] Pain is generally just below the kneecap . [2] Symptoms may worsen if the knee is overly straightened or bent for too long a period. [2] Complications may include an inability to fully straighten the knee. [2] The underlying mechanism may involve bleeding, inflammation, or insufficient space for the fat pad. [2] This may occur as a result of trauma or surgery to the knee. [1] Diagnosis may be supported by magnetic resonance imaging (MRI). [2] Treatment is generally by steroid injections and physical therapy . [2] [1] If this is not effective surgery removal may be tried. [2] While overall it is an uncommon condition, [3] it is relatively common in athletes. [2] Treatment [ edit ] Treatment is generally by steroid injections and physical therapy. [2] [1] If this is not effective surgery removal may be tried. [2] High quality evidence for surgery is lacking as of 2015. [3] References [ edit ] ^ a b c d e f Dragoo, JL; Johnson, C; McConnell, J (1 January 2012).
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-6 (LCCS6) is caused by homozygous mutation in the ZBTB42 gene (613915) on chromosome 14q32. ... Molecular Genetics In a consanguineous Saudi Arabian family in which 3 sibs had lethal congenital contracture syndrome, Patel et al. (2014) excluded linkage to known LCCS loci.
More than 50% of the CMTC patients present with associated cutaneous and/or extracutaneous anomalies (referred to as the macrocephaly-CMTC syndrome; see this term), most frequently body asymmetry (hypotrophy or hypertrophy of an involved extremity) and vascular lesions (capillary malformations). ... CMTC can also be associated with Adams-Oliver syndrome (see this term). Etiology The etiology remains unknown. ... Differential diagnosis Differential diagnoses include Klippel-Trénaunay syndrome, Sturge-Weber syndrome, Bockenheimer syndrome, some port-wine stain capillary malformations, and macrocephaly-CMTC (see these terms).
Toriello et al. (1988) described CMTC in association with Adams-Oliver syndrome (100300). Ben-Amitai et al. (2001) noted that fewer than 300 cases of CMTC had been reported in the world literature. The first association of CMTC with congenital anomalies, namely, Sturge-Weber syndrome (185300) and patent ductus arteriosus (607411), was described by Petrozzi et al. (1970).
The condition was first recognised and described in 1922 by Cato van Lohuizen , [3] a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen Syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome . [4] It should not be confused with the more general term " cutis marmorata ", which refers to livedo reticularis caused by cold. [5] Contents 1 Signs and symptoms 2 Causes 3 Diagnosis 3.1 Differential diagnosis 3.2 Histology 3.3 Associated abnormalities 4 Treatment 5 Prognosis 6 Epidemiology 7 Eponym 8 References 9 External links Signs and symptoms [ edit ] People with visible marks generally feel fine (physically) and can act normally, but when it is mentioned, they may become withdrawn and self-conscious. ... They must be differentiated from other causes of persistent reticulated vascular lesions, such as those in the following table: Diseases Characteristics Diffuse phlebectasia rare progressive harmartomatous malformation involving the deeper veins Livedo reticularis associated with collagen-vascular disease lace pattern of cyanotic skin discoloration secondary to dilation of subpapillary veinous plexi and occlusion of small vessels feeding the upper cutis Neonatal lupus erythematosus well-demarcated erythematous, mild-scaling plaque that is often annular and appears predominantly on the scalp, neck, or face Nevus anemicus congenital single patch manifested by skin pallor, most commonly seen on the trunk Nevus flammeus (port-wine stain) pale pink to red-purple, usually unilateral macules of the face or extremities Physiologic cutis marmorata reticulated mottling appearance of the skin that physiologically responds to cold environments Primary antiphospholipid syndrome (APS) increased tendency to form venous and/or arterial thromboses, often accompanied by thrombocytopenia in the presence of the antiphospholipid antibodies Histology [ edit ] Some patients have a few or no histopathologic abnormalities. Histological examination of a biopsy may show an increase in the number and size of capillaries and veins (rarely lymphatics), dilated capillaries located in the deeper dermis, and hyperplasia and swollen endothelial cells with occasional dilated veins and venous lakes. [ citation needed ] Associated abnormalities [ edit ] Associated abnormalities include the following: • Body asymmetry (extremities; macrocephaly ) • Glaucoma • Cutaneous atrophy • Neurological anomalies • Vascular anomalies (nevus flammeus /Sturge-Weber/Klippel-Trénauna Adams Oliver syndrome) • Psychomotor and/or mental retardation • Chronic ulceration that can complicate long-term CMTC • Chronic urticaria. [11] Treatment [ edit ] In general, there is no treatment available for CMTC, although associated abnormalities can be treated. ... Cutis marmorata telangiectatica congenita with multiple congenital anomalies (van Lohuizen’s syndrome). Dermatologica. 1981;163(5):408-12. ^ Vascular Lesions and Congenital Nevi in the Newborn.
Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin ( cutis marmarota ), small widened blood vessels under the skin ( telangiectasia ) and varicose veins (phlebectasia). The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy.
Mukamel syndrome Specialty Dermatology Mukamel syndrome is a cutaneous condition characterized by premature graying, lentigines, depigmented macules, microcephaly, and scoliosis. [1] See also [ edit ] Mulberry molar List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Clinical Features Dianzani et al. (1997) identified 6 unrelated patients with a clinical picture resembling that of autoimmune lymphoproliferative syndrome (ALPS; 601859), but the patients showed no expansion of CD4 (186940)/CD8 (see 186910) double-negative T cells. ... Defective FAS- or ceramide-induced T-cell death was also detected in 9 of 17 autoimmune patients from 7 families displaying more than a single case of autoimmunity within first- or second-degree relatives, examples of the multiple autoimmune syndrome (MAS). Autoimmune disease as displayed by the Dianzani syndrome patients and the MAS families included several organ-specific and systemic forms. Ramenghi et al. (2000) interpreted their findings as indicating that the Dianzani form of autoimmune lymphoproliferative disease is due to accumulation of several defects in the same subject and that these defects predispose to development of cancer or autoimmune diseases other than ALPS or the Dianzani syndrome. Molecular Genetics Clementi et al. (2006) identified the ala91-to-val (A91V; 170280.0011) substitution in the PRF1 gene in 6 of 28 DALD patients. ... Nomenclature Although Dianzani et al. (1997) referred to this condition as autoimmune lymphoproliferative disease with the symbol ALD, these seem to be unsatisfactory designations because the name is too similar to the autoimmune lymphoproliferative syndrome (ALPS) and the symbol has already been used for adrenoleukodystrophy.
Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. Epidemiology The prevalence of DALD is not known. The disorder has been reported in fewer than 30 patients to date. Clinical description Age of onset is highly variable, ranging from childhood to young adulthood. In patients with DALD, signs of autoimmunity include recurrent episodes of thrombocytopenia, neutropenia, and/or autoimmune hemolytic anemia. Lymphoadenopathy and/or splenomegaly are invariably noted. A possible increased risk of cancer has been suggested in these patients.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 1p35. Clinical Features Wilson et al. (2015) reported 2 unrelated girls with a developmental disorder associated with overlapping de novo heterozygous deletions of chromosome 1p35. ... INHERITANCE - Autosomal dominant GROWTH Height - Short stature Other - Intrauterine growth retardation (in some patients) HEAD & NECK Head - Microcephaly (in some patients) Face - Dysmorphic facial features (in some patients) - Long face - Myopathic face - Micrognathia Ears - Hearing impairment, variable Eyes - Almond-shaped eyes - Hypertelorism Nose - Broad nasal bridge Mouth - Small mouth - Thin upper lip - High-arched palate GENITOURINARY External Genitalia (Male) - Cryptorchidism NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Ataxia - Coordination difficulties - Hypermetropia - Poor or absent speech - Dysarthria - Seizures (in some patients) MISCELLANEOUS - Onset in infancy - Highly variable phenotype MOLECULAR BASIS - Contiguous gene syndrome caused by deletion (0.3 to 5.6 Mb) of chromosome 1p35 ▲ Close
A number sign (#) is used with this entry because the Nascimento form of syndromic X-linked mental retardation (MRXSN) is caused by mutation in the UBE2A gene (312180) on chromosome Xq24. Description The Nascimento type of X-linked syndromic mental retardation is characterized by dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy. ... Budny et al. (2010) reported a 5-generation family in which 5 males had a syndromic form of X-linked mental retardation. ... Molecular Genetics In 3 males with X-linked syndromic mental retardation, Nascimento et al. (2006) identified a nonsense mutation in the UBE2A gene (Q128X; 312180.0001). ... In affected members of 2 unrelated families with syndromic XLMR, Budny et al. (2010) identified 2 different missense mutations in the UBE2A gene (312180.0002 and 312180.0003, respectively).
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
Puppy pregnancy syndrome is a psychosomatic illness in humans brought on by mass hysteria . The syndrome is thought to be localized to villages in several states of India , including West Bengal , Assam , Bihar , Jharkhand , Orissa , and Chhattisgarh , and has been reported by tens of thousands of individuals. [1] It is far more prevalent in areas with little access to education. [1] People suffering from this condition believe that shortly after being bitten by a dog, puppies are conceived within their abdomen. [1] This is said to be especially likely if the dog is sexually excited at the time of the attack. [2] Victims are said to bark like dogs and have reported being able to see the puppies inside them when looking at water or hear them growling in their abdomen. [1] [2] [3] It is believed that the victims will eventually die – especially men, who will give birth to their puppies through the penis . [2] [3] Witch doctors offer oral cures, which they claim will dissolve the puppies, allowing them to pass through the digestive system and be excreted "without the knowledge of the patient". [1] [2] Doctors in India have tried to educate the public about the dangers of believing in this condition. [3] Most sufferers are referred to psychiatric services, but in rare instances patients fail to take anti- rabies medication in time, thinking that they are pregnant with a puppy and thus the witch doctor's medicine will cure them. Since rabies is so deadly, this is a very dangerous idea. [1] [2] This is further compounded by witch doctors stating that their medicine will fail if sufferers seek scientific treatment. [1] Some psychiatrists believe that the syndrome meets the criteria for a culture-bound disorder . [2] See also [ edit ] Clinical lycanthropy Superstition in India References [ edit ] ^ a b c d e f g Rahman, Shaikh Azizur (December 31, 2012). ... Retrieved March 26, 2013 . ^ a b c d e f Bering, Jesse (November 15, 2011). "Puppy Pregnancy Syndrome: Men Who Think They Are Pregnant with Dogs" . ... PMID 12793514 . v t e Superstition Main topics Amulet Evil eye Luck Omen Talismans Myth and ritual Lists List of superstitions List of lucky symbols List of bad luck signs Sailors' superstitions Theatrical superstitions Africa Buda Gris-gris Sampy Sleeping child Americas Ascalapha odorata Carranca Cooties Curupira Djucu Fortune cookie Groundhog Day I'noGo tied Oscar love curse Susto White lighter myth Witch window Asia Superstition in India Superstition in Pakistan Japanese superstitions Bhoot (ghost) Chhaupadi Churel Ghosts in Bengali culture Jackal's horn Kuai Kuai culture Muhurta Navaratna Nazar battu Pichal Peri Puppy pregnancy syndrome Akabeko Kanai Anzen Maneki-neko Okiagari-koboshi Omamori Fan death Agimat Arbularyo Barang Kulam Lihi Pagtatawas Pasma Usog Kuman Thong Palad khik Takrut Nang Kwak White elephant Curse of 39 Jin Chan Numbers in Chinese culture Superstitions of Malaysian Chinese Europe August curse Barbary macaques in Gibraltar Bayern-luck Blarney Stone Cimaruta Cornicello The Goodman's Croft Himmelsbrief Icelandic magical staves In bocca al lupo Kitchen witch Klabautermann Mooncalf Nazar Need-fire Painted pebbles Powder of sympathy Rabbit rabbit rabbit Ravens of the Tower of London Russian traditions and superstitions Spilling water for luck The Scottish Play Troll cross Tycho Brahe days Witch post Wolfssegen General 11:11 4 ( Four-leaf clover , Tetraphobia ) 7 ( Seventh son of a seventh son ) 8 9 13 ( Friday the 13th , The Thirteen Club , Thirteenth floor , Triskaidekaphobia ) 108 111 666 ( Number of the Beast ) Ace of spades Auspicious wedding dates Baseball superstition Beginner's luck Black cat Bread and butter Break a leg Chain letter Cramp-ring Curse Davy Jones' Locker Dead man's hand End-of-the-day betting effect Fear of frogs Fear of ghosts First-foot Flying Dutchman Four Eleven Forty Four Gambler's conceit Good luck charm Human sacrifice Jinx Knocking on wood Law of contagion Literomancy Lock of hair Maternal impression Miasma theory Nelson Numismatic charm Penny Rabbit's foot Rainmaking Ship sponsor Shoes on a table Sign of the horns Something old Spilling salt Statue rubbing Three on a match Threshold Toi toi toi 27 Club Wishing well Witch ball Witching hour Related Apotropaic magic Astrology and science Coincidence Debunker Divination Folk religion Fortune-telling Magic and religion Magical thinking Numerology Perceptions of religious imagery in natural phenomena Post hoc ergo propter hoc Traditional medicine Urban legend Jew Muslim
Floppy trunk syndrome (abbreviated FTS , also known as flaccid trunk paralysis ) is a condition that causes trunk paralysis in African bush elephants . Initially observed in 1989, the syndrome primarily affected bull elephants in several select regions in Zimbabwe . ... Contents 1 History 2 Signs and symptoms 3 Scope 4 Possible causes 5 Treatment 6 References History [ edit ] Floppy trunk syndrome was initially observed in 1989 on Fothergill Island, in Matusadona National Park , Zimbabwe, near Lake Kariba . [1] Five more cases were observed in the same location around a year later, and several more cases were observed in July and August 1992. Several elephants suffering from the condition were surgically biopsied while paralyzed in May 1989, and a necropsy of affected elephants was performed in November 1991 and April 1992. [2] Signs and symptoms [ edit ] Elephants with floppy trunk syndrome typically initially exhibit a loss of their trunk's prehensile abilities. ... Untreated, this handicap could result in starvation. [3] Scope [ edit ] FTS has been observed in the northwest of Zimbabwe, [4] the Satara area of Kruger National Park, and Fothergill in Lake Kariba. The syndrome has only been observed in free-ranging elephants specifically Loxodonta africana , and primarily affects older male elephants. [3] [5] Over thirty elephants were observed to be afflicted with this paralysis, including at least eight in Kruger National Park and twelve cases near Fothergill Island. [3] In Gonarezhou National Park in south eastern Zimbabwe, several cases of FTS have been reported since 2013 (approximately half a dozen individuals) all of which were elephant bulls.
This subsequently leads to cell lysis , tissue damage or loss of function through mechanisms such as complement activation via the classical complement pathway antibody dependent cell-mediated cytotoxicity or anti-receptor activity. [1] The activation of the complement system results in opsonization , the agglutination of red blood cells, cell lysis, and cell death. [2] These reactions usually take between 2 and 24 hours to develop. [2] Contents 1 Examples 2 See also 3 References 4 External links Examples [ edit ] Disease Autoantibody target Autoimmune hemolytic anemia Red blood cells Goodpasture syndrome Glomerular basement membrane Graves disease Thyroid stimulating hormone receptor Immune thrombocytopenia Platelets Myasthenia gravis Muscle acetylcholine receptor [3] An example of complement dependent type II hypersensitivity is an acute haemolytic transfusion reaction following transfusion of ABO incompatible blood. [4] Preformed antibody (predominantly IgM) against donor red cell antigens not found in an individual of a particular blood group (e.g. anti-A IgM in an individual with blood group B), bind to the donor red cell surface and lead to rapid complement mediated haemolysis and potentially life-threatening clinical consequences. Complement-dependent type II hypersensitivity can also occur during the transmission of incompatible maternal antibodies to fetal red blood cells causing hemolytic anemia in the fetus, known as erythroblastosis fetalis. [5] [6] Another example of a complement dependent type II hypersensitivity reaction is Goodpasture's syndrome , where the basement membrane (containing collagen type IV) in the lung and kidney is attacked by one's own antibodies in a complement mediated fashion. [7] An example of anti-receptor type II hypersensitivity (also classified as type V hypersensitivity) is observed in Graves disease , in which anti-thyroid stimulating hormone receptor antibodies lead to increased production of thyroxine . [8] However, there are questions as to the relevance of the Gell and Coombs classification of allergic reactions in modern-day understanding of allergy and it has limited utility in clinical practice. [9] See also [ edit ] Type I hypersensitivity Type III hypersensitivity Type IV hypersensitivity Type V hypersensitivity References [ edit ] ^ "Immunopathology" . ^ a b Warrington, Richard; Watson, Wade; Kim, Harold L.; Antonetti, Francesca Romana (10 November 2011). ... John Hopkins Medicine . ^ Goodpasture Syndrome at eMedicine ^ Graves Disease at eMedicine ^ Descotes, Jacques; Choquet-Kastylevsky, Geneviève (February 2001). ... External links [ edit ] Classification D MeSH : D001327 DiseasesDB : 33482 External resources MedlinePlus : 000821 v t e Hypersensitivity and autoimmune diseases Type I / allergy / atopy ( IgE ) Foreign Atopic eczema Allergic urticaria Allergic rhinitis (Hay fever) Allergic asthma Anaphylaxis Food allergy common allergies include: Milk Egg Peanut Tree nut Seafood Soy Wheat Penicillin allergy Autoimmune Eosinophilic esophagitis Type II / ADCC IgM IgG Foreign Hemolytic disease of the newborn Autoimmune Cytotoxic Autoimmune hemolytic anemia Immune thrombocytopenic purpura Bullous pemphigoid Pemphigus vulgaris Rheumatic fever Goodpasture syndrome Guillain–Barré syndrome " Type V "/ receptor Graves' disease Myasthenia gravis Pernicious anemia Type III ( Immune complex ) Foreign Henoch–Schönlein purpura Hypersensitivity vasculitis Reactive arthritis Farmer's lung Post-streptococcal glomerulonephritis Serum sickness Arthus reaction Autoimmune Systemic lupus erythematosus Subacute bacterial endocarditis Rheumatoid arthritis Type IV / cell-mediated ( T cells ) Foreign Allergic contact dermatitis Mantoux test Autoimmune Diabetes mellitus type 1 Hashimoto's thyroiditis Multiple sclerosis Coeliac disease Giant-cell arteritis Postorgasmic illness syndrome Reactive arthritis GVHD Transfusion-associated graft versus host disease Unknown/ multiple Foreign Hypersensitivity pneumonitis Allergic bronchopulmonary aspergillosis Transplant rejection Latex allergy (I+IV) Autoimmune Sjögren syndrome Autoimmune hepatitis Autoimmune polyendocrine syndrome APS1 APS2 Autoimmune adrenalitis Systemic autoimmune disease
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 15 (NPHS15) is caused by homozygous or compound heterozygous mutation in the MAGI2 gene (606382) on chromosome 7q21. ... For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300). Clinical Features Bierzynska et al. (2017) reported 3 children, including 2 sisters (patients 175 and 175S) born of consanguineous parents and an unrelated child (patient 180), with NPHS15. ... Patient 180 had polydactyly and pyloric stenosis, but no other features of a characterized syndrome. Inheritance The transmission pattern of NPHS15 in the families reported by Bierzynska et al. (2017) was consistent with autosomal recessive inheritance. ... The patients were ascertained from a cohort of 187 patients with childhood-onset steroid-resistant nephrotic syndrome who underwent whole-exome sequencing. ... INHERITANCE - Autosomal recessive GENITOURINARY Kidneys - Nephrotic syndrome - End-stage renal failure (1 patient) - Glomerular sclerosis seen on renal biopsy - Glomerular lobulation - Interstitial fibrosis - Minimal change disease - Effacement of podocyte foot processes LABORATORY ABNORMALITIES - Proteinuria - Hypoalbuminemia MISCELLANEOUS - Onset in first months of life - Variable progression and severity - Some children may require renal transplant - Three patients from 2 unrelated families have been reported (last curated August 2017) MOLECULAR BASIS - Caused by mutation in the membrane-associated guanylate kinase, WW and PDZ domains-containing, 2 gene (MAGI2, 606382.0001 ) ▲ Close