Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A characteristic symptom complex.
A republic located south of HUNGARY, west of ROMANIA and BULGARIA, and part of the former YUGOSLAVIA. The capital is Belgrade.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Populations of thin, motile processes found covering the surface of ciliates (CILIOPHORA) or the free surface of the cells making up ciliated EPITHELIUM. Each cilium arises from a basic granule in the superficial layer of CYTOPLASM. The movement of cilia propels ciliates through the liquid in which they live. The movement of cilia on a ciliated epithelium serves to propel a surface layer of mucus or fluid. (King & Stansfield, A Dictionary of Genetics, 4th ed)
An individual in which both alleles at a given locus are identical.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
The study of the anatomical and functional relationships between the nervous system and the endocrine system.
Acquisition of knowledge as a result of instruction in a formal course of study.
Conferences, conventions or formal meetings usually attended by delegates representing a special field of interest.
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports basic and applied research to better understand, treat, and ultimately prevent infectious, immunologic, and allergic diseases. It was established in 1948.
Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
The glyceryl esters of a fatty acid, or of a mixture of fatty acids. They are generally odorless, colorless, and tasteless if pure, but they may be flavored according to origin. Fats are insoluble in water, soluble in most organic solvents. They occur in animal and vegetable tissue and are generally obtained by boiling or by extraction under pressure. They are important in the diet (DIETARY FATS) as a source of energy. (Grant & Hackh's Chemical Dictionary, 5th ed)
Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).

Loss of caspase-8 expression does not correlate with MYCN amplification, aggressive disease, or prognosis in neuroblastoma. (1/40)

Inactivation of caspase-8 because of aberrant gene methylation has been associated with amplification of the MYCN oncogene and aggressive disease in neuroblastoma, suggesting that caspase-8 may function as tumor suppressor. However, the prognostic effect of caspase-8 in neuroblastoma has remained obscure. Therefore, we investigated caspase-8 expression and its correlation with established prognostic markers and survival outcome in a large cohort of neuroblastoma patients. Here, we report that loss of caspase-8 protein expression occurs in the majority (75%) of neuroblastoma and is not restricted to advanced disease stages. Surprisingly, no correlation was observed between caspase-8 expression and MYCN amplification. Similarly, ectopic expression of MYCN or antisense-mediated down-regulation of MYCN had no effect on caspase-8 expression in neuroblastoma cell lines. In addition, caspase-8 expression did not correlate with other variables of high-risk disease (e.g., 1p36 aberrations, disease stage, age at diagnosis, or tumor histology). Most importantly, loss of caspase-8 protein had no effect on event-free or overall survival in the overall study population or in distinct subgroups of patients. By revealing no correlation between caspase-8 expression and MYCN amplification or other established variables of aggressive disease, our findings in a large cohort of neuroblastoma patients show that inactivation of caspase-8 is not a characteristic feature of aggressive neuroblastoma. Thus, our study provides novel insight into the biology of this tumor, which may have important clinical implications.  (+info)

Caspase-8 and c-FLIPL associate in lipid rafts with NF-kappaB adaptors during T cell activation. (2/40)

Humans and mice lacking functional caspase-8 in T cells manifest a profound immunodeficiency syndrome due to defective T cell antigen receptor (TCR)-induced NF-kappaB signaling and proliferation. It is unknown how caspase-8 is activated following T cell stimulation, and what is the caspase-8 substrate(s) that is necessary to initiate T cell cycling. We observe that following TCR ligation, a small portion of total cellular caspase-8 and c-FLIP(L) rapidly migrate to lipid rafts where they associate in an active caspase complex. Activation of caspase-8 in lipid rafts is followed by rapid cleavage of c-FLIP(L) at a known caspase-8 cleavage site. The active caspase.c-FLIP complex forms in the absence of Fas (CD95/APO1) and associates with the NF-kappaB signaling molecules RIP1, TRAF2, and TRAF6, as well as upstream NF-kappaB regulators PKC theta, CARMA1, Bcl-10, and MALT1, which connect to the TCR. The lack of caspase-8 results in the absence of MALT1 and Bcl-10 in the active caspase complex. Consistent with this observation, inhibition of caspase activity attenuates NF-kappaB activation. The current findings define a link among TCR, caspases, and the NF-kappaB pathway that occurs in a sequestered lipid raft environment in T cells.  (+info)

Lidocaine induces apoptosis via the mitochondrial pathway independently of death receptor signaling. (3/40)

BACKGROUND: Local anesthetics, especially lidocaine, can lead to persistent cauda equina syndrome after spinal anesthesia. Recently, lidocaine has been reported to trigger apoptosis, although the underlying mechanisms remain unknown. To elucidate the pathway of lidocaine-induced apoptosis, the authors used genetically modified cells with overexpression or deficiencies of key regulators of apoptosis. METHODS: Human Jurkat T-lymphoma cells overexpressing the antiapoptotic protein B-cell lymphoma 2 as well as cells deficient of caspase 9, caspase 8, or Fas-associated protein with death domain were exposed to lidocaine and compared with parental cells. The authors evaluated cell viability, mitochondrial alterations, cytochrome c release, caspase activation, and early apoptosis. Apoptosis was in addition investigated in neuroblastoma cells. RESULTS: In Jurkat cells, lidocaine reduced viability, associated with a loss of the mitochondrial membrane potential. At low concentrations (3-6 mm) of lidocaine, caspase 3 was activated and release of cytochrome c was detected, whereas at higher concentrations (10 mm), no caspase activation was found. Apoptosis by lidocaine was strongly reduced by B-cell lymphoma-2 protein overexpression or caspase-9 deficiency, whereas cells lacking the death receptor pathway components caspase 8 and Fas-associated protein with death domain were not protected and displayed similar apoptotic alterations as the parental cells. Lidocaine also induced apoptotic caspase activation in neuroblastoma cells. CONCLUSIONS: Apoptosis is triggered by concentrations of lidocaine occurring intrathecally after spinal anesthesia, whereas higher concentrations induce necrosis. The data indicate that death receptors are not involved in lidocaine-induced apoptosis. In contrast, the observation that B-cell lymphoma-2 protein overexpression or the lack of caspase 9 abolished apoptosis clearly implicates the intrinsic mitochondrial death pathway in lidocaine-induced apoptosis.  (+info)

A Fas-associated death domain protein/caspase-8-signaling axis promotes S-phase entry and maintains S6 kinase activity in T cells responding to IL-2. (4/40)

Fas-associated death domain protein (FADD) constitutes an essential component of TNFR-induced apoptotic signaling. Paradoxically, FADD has also been shown to be crucial for lymphocyte development and activation. In this study, we report that FADD is necessary for long-term maintenance of S6 kinase (S6K) activity. S6 phosphorylation at serines 240 and 244 was only observed after long-term stimulation of wild-type cells, roughly corresponding to the time before S-phase entry, and was poorly induced in T cells expressing a dominantly interfering form of FADD (FADDdd), viral FLIP, or possessing a deficiency in caspase-8. Defects in S6K1 phosphorylation were also observed. However, defective S6K1 phosphorylation was not a consequence of a wholesale defect in mammalian target of rapamycin function, because 4E-BP1 phosphorylation following T cell activation was unaffected by FADDdd expression. Although cyclin D3 up-regulation and retinoblastoma hypophosphorylation occurred normally in FADDdd T cells, cyclin E expression and cyclin-dependent kinase 2 activation were markedly impaired in FADDdd T cells. These results demonstrate that a FADD/caspase-8-signaling axis promotes T cell cycle progression and sustained S6K activity.  (+info)

Novel noncatalytic role for caspase-8 in promoting SRC-mediated adhesion and Erk signaling in neuroblastoma cells. (5/40)

Neuroblastomas are extremely aggressive, although heterogeneous, cancers with a poor prognosis upon metastasis. Some evidence has suggested a correlative silencing of caspase-8 with MYCN amplification in neuroblastoma. A prognostic effect of this silencing, however, has been disputed. We report here hitherto undescribed roles for caspase-8 in the modulation of cell adhesion and subsequent activation of the Erk signaling pathway. Re-expression of caspase-8 in neuroblastoma cells lacking endogenous caspase-8 expression was found to promote cell adhesion to extracellular matrix and to activate adhesion-dependent signaling pathways, such as the Erk kinase cascade. This function of caspase-8 occurred irrespective of its proteolytic activity. Additionally, a pool of caspase-8 was shown to co-localize with the Src tyrosine kinase at the cellular periphery. Furthermore, our studies showed that caspase-8 forms a physical protein complex with Src via its death effector domains (DED) and maintains the complex in a detergent-soluble fraction. We also show that the DEDs of caspase-8 alone are necessary and sufficient to recreate the adhesive and biochemical phenotypes observed with the full-length protein, suggesting that caspase-8 may exert these effects via its association with Src. This protein complex association of caspase-8 and Src, and concomitant downstream signaling events, may help reconcile why a potential tumor suppressor such as caspase-8 is rarely absent in cancers.  (+info)

Genetic defects of apoptosis and primary immunodeficiency. (6/40)

 (+info)

Infected cell killing by HIV-1 protease promotes NF-kappaB dependent HIV-1 replication. (7/40)

 (+info)

Mutation of a self-processing site in caspase-8 compromises its apoptotic but not its nonapoptotic functions in bacterial artificial chromosome-transgenic mice. (8/40)

Caspase-8, the proximal enzyme in the death-induction pathway of the TNF/nerve growth factor receptor family, is activated upon juxtaposition of its molecules within the receptor complexes and is then self-processed. Caspase-8 also contributes to the regulation of cell survival and growth, but little is known about the similarities or the differences between the mechanisms of these nonapoptotic functions and of the enzyme's apoptotic activity. In this study, we report that in bacterial artificial chromosome-transgenic mice, in which the aspartate residue upstream of the initial self-processing site in caspase-8 (D387) was replaced by alanine, induction of cell death by Fas is compromised. However, in contrast to caspase-8-deficient mice, which die in utero at mid-gestation, the mice mutated at D387 were born alive and seemed to develop normally. Moreover, mice with the D387A mutation showed normal in vitro growth responses of T lymphocytes to stimulation of their Ag receptor as well as of B lymphocytes to stimulation by LPS, normal differentiation of bone marrow macrophage precursors in response to M-CSF, and normal generation of myeloid colonies by the bone marrow hematopoietic progenitors, all of which are compromised in cells deficient in caspase-8. These finding indicated that self-processing of activated caspase-8 is differentially involved in the different functions of this enzyme: it is needed for the induction of cell death through the extrinsic cell death pathway but not for nonapoptotic functions of caspase-8.  (+info)

The symptoms of Alstrom Syndrome can vary widely between individuals, but may include:

* Vision loss or blindness due to progressive retinal degeneration
* Hearing loss or deafness
* Developmental delays and intellectual disability
* Autism spectrum disorder
* Poor coordination and balance
* Seizures
* Increased risk of infections
* Liver and spleen problems
* Heart defects

There is no cure for Alstrom Syndrome, but treatment may include:

* Regular check-ups with a multidisciplinary team of healthcare providers to manage symptoms and monitor progress
* Vision aids such as glasses or contact lenses
* Hearing aids or cochlear implants
* Speech and language therapy
* Occupational and physical therapy to improve coordination and balance
* Seizure medication
* Antibiotics to treat infections
* Surgery to correct heart defects

The prognosis for individuals with Alstrom Syndrome varies depending on the severity of their symptoms and the presence of any additional health issues. With appropriate medical care, many individuals with Alstrom Syndrome can lead fulfilling lives, but life expectancy may be shorter than average due to the risk of complications such as infections and heart problems.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

1. Vision loss or blindness
2. Developmental delays and intellectual disability
3. Speech and language difficulties
4. Poor coordination and balance
5. Skeletal abnormalities such as short stature, short arms, and curved spine
6. Kidney problems
7. Hearing loss
8. Increased risk of infections
9. Cleft palate or other facial defects
10. Delayed puberty or absent menstruation in females

The syndrome is caused by mutations in the Bardet-Biedl genes, which are responsible for the development and function of the body's sensory and motor systems. It is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene - one from each parent - to develop the condition.

There is currently no cure for Bardet-Biedl Syndrome, but treatment and management options are available to help manage the symptoms and improve quality of life. These may include:

1. Vision aids such as glasses or contact lenses
2. Speech and language therapy
3. Physical therapy to improve coordination and balance
4. Occupational therapy to develop daily living skills
5. Medications to manage infections, seizures, or other complications
6. Surgery to correct physical abnormalities such as cleft palate or spinal deformities
7. Hormone replacement therapy for delayed puberty or absent menstruation in females.

The prognosis for individuals with Bardet-Biedl Syndrome varies depending on the severity of the symptoms and the presence of any additional health issues. With appropriate management and support, many individuals with the condition are able to lead fulfilling lives and achieve their goals. However, the syndrome can be associated with a higher risk of certain health complications, such as kidney disease or respiratory infections, which can impact life expectancy.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

There are different types of blindness, including:

1. Congenital blindness: Blindness that is present at birth, often due to genetic mutations or abnormalities in the development of the eye and brain.
2. Acquired blindness: Blindness that develops later in life due to injury, disease, or other factors.
3. Amblyopia: A condition where one eye has reduced vision due to misalignment or other causes.
4. Glaucoma: A group of eye conditions that can damage the optic nerve and lead to blindness if left untreated.
5. Retinitis pigmentosa: A degenerative disease that affects the retina and can cause blindness.
6. Cataracts: A clouding of the lens in the eye that can impair vision and eventually cause blindness if left untreated.
7. Macular degeneration: A condition where the macula, a part of the retina responsible for central vision, deteriorates and causes blindness.

There are various treatments and therapies for blindness, depending on the underlying cause. These may include medications, surgery, low vision aids, and assistive technology such as braille and audio books, screen readers, and voice-controlled software. Rehabilitation programs can also help individuals adapt to blindness and lead fulfilling lives.

There are several types of retinal dystrophies, each with different symptoms and causes. Some common forms of retinal dystrophies include:

1. Retinitis pigmentosa (RP): This is a group of genetic disorders that affect the retina and cause progressive vision loss, usually starting in childhood or adolescence.
2. Leber congenital amaurosis (LCA): This is a rare form of retinal dystrophy that causes blindness or severe visual impairment at birth or during early childhood.
3. Stargardt disease: This is an inherited disorder that affects the retina and causes vision loss, usually starting in childhood or adolescence.
4. Macular degeneration: This is a condition that affects the macula, the part of the retina responsible for central vision. It can cause vision loss and blindness, especially in older adults.

Retinal dystrophies are caused by genetic mutations that affect the structure and function of the retina. They can be inherited from one's parents or occur spontaneously due to a genetic mutation during fetal development. There is currently no cure for retinal dystrophies, but there are various treatments available to slow down the progression of the disease and manage symptoms. These include vitamin supplements, medications, and surgery.

Retinal dystrophies can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, socialize, and maintain independence. However, advances in medical technology and research have led to new treatments and therapies that offer hope for those affected by these diseases.

Some common examples of digestive system diseases include:

1. Irritable Bowel Syndrome (IBS): This is a chronic condition characterized by abdominal pain, bloating, and changes in bowel habits such as constipation or diarrhea.
2. Inflammatory Bowel Disease (IBD): This includes conditions such as Crohn's disease and ulcerative colitis, which cause chronic inflammation in the digestive tract.
3. Gastroesophageal Reflux Disease (GERD): This is a condition where stomach acid flows back up into the esophagus, causing heartburn and other symptoms.
4. Peptic Ulcer: This is a sore on the lining of the stomach or duodenum (the first part of the small intestine) that can cause pain, nausea, and vomiting.
5. Diverticulosis: This is a condition where small pouches form in the wall of the colon, which can become inflamed and cause symptoms such as abdominal pain and changes in bowel habits.
6. Constipation: This is a common condition where the stool is hard and difficult to pass, which can be caused by a variety of factors such as poor diet, dehydration, or certain medications.
7. Diabetes: This is a chronic condition that affects how the body regulates blood sugar levels, which can also affect the digestive system and cause symptoms such as nausea, vomiting, and abdominal pain.
8. Celiac Disease: This is an autoimmune disorder where the immune system reacts to gluten, a protein found in wheat, barley, and rye, causing inflammation and damage to the small intestine.
9. Lipidosis: This is a condition where there is an abnormal accumulation of fat in the body, which can cause symptoms such as abdominal pain, nausea, and vomiting.
10. Sarcoidosis: This is a chronic inflammatory disease that can affect various organs in the body, including the digestive system, causing symptoms such as abdominal pain, diarrhea, and weight loss.

It's important to note that this list is not exhaustive and there are many other conditions that can cause abdominal pain. If you are experiencing persistent or severe abdominal pain, it's important to seek medical attention to determine the underlying cause and receive proper treatment.

"Alstrom syndrome". Nature's Corner. Retrieved 2015-12-06.[permanent dead link] "Alstrom syndrome - Clark's Nutrition". www. ... "Alstrom Syndrome". Healthline. Retrieved 2015-12-06. "Alström Syndrome - Symptoms, Diagnosis, Treatment of Alström Syndrome". ... Syndromes with obesity, Syndromes with sensorineural hearing loss, Syndromes affecting the retina, Syndromes including diabetes ... "Alstrom Syndrome". Healthline. Retrieved 2015-12-06. "Alstr?m syndrome is a rare genetic disorder that is characterized by a ...
Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of ... Tai TS, Lin SY, Sheu WH (2003). "Metabolic effects of growth hormone therapy in an Alström syndrome patient". Horm. Res. 60 (6 ... causes Alström syndrome". Nat. Genet. 31 (1): 79-83. doi:10.1038/ng874. PMID 11941370. S2CID 1840855. 't Hart LM, Maassen JA, ... type 2 diabetes and neurosensory degeneration in Alström syndrome". Nat. Genet. 31 (1): 74-8. doi:10.1038/ng867. PMID 11941369 ...
GeneReviews/NCBI/NIH/UW entry on Alstrom syndrome OMIM entries on Alström syndrome ALMS1+protein,+human at the US National ... Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene. The gene is located on the ... Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN (2007). "Alstrom syndrome (OMIM 203800): a case ... Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R (January 2007). "A role for Alström syndrome ...
Genes from its loci have been related to Alstrom syndrome, cleft palate, neurodevelopmental delays, macrocephaly, and Perry ... syndrome. In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines ...
Alstrom syndrome 1 ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8 ASXL2: Additional sex combs like 2, ... 2p15-16.1 microdeletion syndrome Autism Alport syndrome Alström syndrome Amyotrophic lateral sclerosis Brachydactyly type D ... Sensenbrenner syndrome Synesthesia Waardenburg syndrome G-banding ideograms of human chromosome 2 "Human Genome Assembly GRCh38 ... classical type Ehlers-Danlos syndrome, vascular type Fibrodysplasia ossificans progressiva Gilbert's syndrome Harlequin type ...
... dominant type Alport syndrome macrothrombocytopenia Alport syndrome, recessive type Alstrom's syndrome Alternating hemiplegia ... Pande syndrome Aarskog syndrome Aase-Smith syndrome Aase syndrome Abasia ABCD syndrome Abdallat-Davis-Farrage syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, ... Alström syndrome is inherited in an autosomal recessive manner. This means both of your parents must pass on a copy of the ... Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to blindness, ... Farooqi IS, ORahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. ...
Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical ... Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. ... Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. ... highlighting the importance of genetic testing for the early diagnosis of Alstrom syndrome. ...
Alstrom Syndrome. Complement C1 Inhibitor Protein/deficiency. Hereditary Angioedema Types I and II. ... Alien Hand Syndrome. Anterior Wall Myocardial Infarction. Asthma, Aspirin-Induced. Contrecoup Injury. Corpse Dismemberment. ...
Obesity and Associated Traits in Alstrom Syndrome. Jurgen Naggert, The Jackson Laboratory. 8:45 a.m. - 9:15 a.m.. Obesity and X ... Session III: Pleiotropic "Obesity Syndromes". Moderator: Philip Beales. This session will examine rare genetic syndromes for ... We also hope to get an idea of the number of individuals/families with obesity and lipodystrophic syndromes where the genetic ... Brain-derived Neurotrophic Factor in WAGR Syndrome and Non-syndromic Obesity. Joan Han, National Institute of Child Health and ...
Alstrom syndrome is a rare disease caused by problems with how cilia work. Cilia are hair-like extensions on the tips of cells ... Individuals with Alstrom syndrome develop hearing loss after birth, and NIDCD intramural scientists documented when hearing ... Investing in Translational and Clinical Research to Improve Assistive Technology for Locked-In Syndrome3: Locked-in syndrome ( ... Along with a host of other problems, Smith-Magenis syndrome can cause hearing loss and sensitivity to environmental sounds. ...
Alstroms Syndrome Alstrom-Hallgren Syndrome Alström Syndrome Public MeSH Note. 2010. History Note. 2010. Date Established. ... Alstrom Syndrome Preferred Term Term UI T734364. Date02/02/2009. LexicalTag EPO. ThesaurusID ... Alstrom-Hallgren Syndrome Term UI T840882. Date04/18/2013. LexicalTag EPO. ThesaurusID GHR (2014). ... Alstrom Syndrome. Tree Number(s). C10.500.300.099. C10.574.500.495.099. C10.668.829.800.300.099. C11.270.684.249. C16.131. ...
Bardet-Biedl syndrome, Alstrom syndrome, Joubert syndrome, WAGR syndrome, and albinism. Dr. Zeins research focuses on the ... Zein has been the principal investigator of the NEI Usher syndrome protocol 05-EI-0096 since 2010. ... Additionally, he investigates systemic hereditary diseases that can affect the eye such as Usher syndrome, ...
Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. Fibroblast growth factor defects include ... and acanthosis nigricans syndrome (HAIR-AN syndrome). This syndrome is often familial, affecting primarily young women ( ... acanthosis nigricans has been associated with numerous syndromes (see the Table in Pathophysiology). The type A syndrome and ... 12] Acanthosis nigricans has been shown to be a reliable early marker for metabolic syndrome in pediatric patients. [13, 14] ...
Alstrom Syndrome C16.131.77.80 C16.131.77.245.63 C16.320.184.63 Alternative Splicing G2.111.87.750.700.100 G2.111.760.700.100 ... Bardet-Biedl Syndrome C16.131.77.112 C16.131.77.245.125 C16.320.184.125 Baroreflex G9.330.190.400.90 G9.330.380.57 G11.561. ... Fraser Syndrome C5.116.99.370.894.819.428 C5.660.585.800.428 C5.660.906.819.428 C12.706.410 C13.351.875.397 C16.131.621.585. ... Crush Syndrome C26.257.500 Cryptolepis B1.650.940.800.575.100.81.303 B1.650.940.800.575.100.456.500.303 Crystallization G2.149. ...
Alstroms Syndrome Alstrom-Hallgren Syndrome Alstroms Syndrome Alström Syndrome Syndrome, Alstrom Syndrome, Alstroms Syndrome ... Alstroms Syndrome. Alstrom-Hallgren Syndrome. Alstroms Syndrome. Alström Syndrome. Syndrome, Alstrom. Syndrome, Alstroms. ... Alstrom Syndrome Entry term(s). Alstrom Hallgren Syndrome ... Syndrome dAlström Entry term(s):. Alstrom Hallgren Syndrome. ... Syndrome, Alstrom-Hallgren. Syndrome, Alström. Tree number(s):. C10.500.300.099. C10.574.500.495.099. C10.668.829.800.300.099. ...
Alstroms Syndrome Alstrom-Hallgren Syndrome Alström Syndrome Public MeSH Note. 2010. History Note. 2010. Date Established. ... Alstrom Syndrome Preferred Term Term UI T734364. Date02/02/2009. LexicalTag EPO. ThesaurusID ... Alstrom-Hallgren Syndrome Term UI T840882. Date04/18/2013. LexicalTag EPO. ThesaurusID GHR (2014). ... Alstrom Syndrome. Tree Number(s). C10.500.300.099. C10.574.500.495.099. C10.668.829.800.300.099. C11.270.684.249. C16.131. ...
Joubert syndrome-3,. 608629. ALMS1. 197.7. Alstrom syndrome,. 203800. ANKS6. 99.5. Nephronophthisis 16. 615382. ... Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35,36). 612650. ... Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35 36). 604232. ...
Alstrom Syndrome AR 99.92% 302 of 305 APOA1 Familial Visceral Amyloidosis, Apolipoprotein A-I Deficiency ...
Alstrom syndrome (disorder). Code System Preferred Concept Name. Alstrom syndrome (disorder). Concept Status. Published. ...
I can give you the numbers for people who suffer from Stoneman Syndrome, its 1 in 2,000,000. Alstrom Syndrome only has 502 ... i am from England .i have m.e .carpol tunnel syndrome well long list health issues .migraines.allergies .people never see the ...
... in Alstroms Syndrome.. Encouraging data from a UK-based open-label phase 2 trial of PBI-4050 in Alstroms Syndrome were ... For example, Alstrom Syndrome is characterised by retinal degeneration, nystagmus (wobbly eyes), sensitivity to light, loss of ... Parkinson hopes that these could lead to treatments for diseases such as Alstroms Syndrome but is realistic about the speed of ... "A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a festival ...
In addition, he serves as a Board Member for Alstrom Angels, a nonprofit that supports individuals with Alstrom Syndrome, a ...
CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration). HN - 2010 MH - Alstrom Syndrome UI - D056769 MN - C10.500.300.99 MN - ... HN - 2010 BX - Loeys-Dietz Aortic Aneurysm Syndrome FX - Ehlers-Danlos Syndrome FX - Marfan Syndrome MH - Low Tension Glaucoma ... HN - 2010 BX - Post-operative Vasoplegic Syndrome BX - Postoperative Vasoplegic Syndrome BX - Vasoplegic Syndrome MH - Viral ... Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS- ...
Alstrom Syndrome C16.131.77.80 C16.131.77.245.63 C16.320.184.63 Alternative Splicing G2.111.87.750.700.100 G2.111.760.700.100 ... Bardet-Biedl Syndrome C16.131.77.112 C16.131.77.245.125 C16.320.184.125 Baroreflex G9.330.190.400.90 G9.330.380.57 G11.561. ... Fraser Syndrome C5.116.99.370.894.819.428 C5.660.585.800.428 C5.660.906.819.428 C12.706.410 C13.351.875.397 C16.131.621.585. ... Crush Syndrome C26.257.500 Cryptolepis B1.650.940.800.575.100.81.303 B1.650.940.800.575.100.456.500.303 Crystallization G2.149. ...
Alstrom syndrome, see Alström syndrome. *Alstrom-Hallgren syndrome, see Alström syndrome. *Alström syndrome ... Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion syndrome. *Albright syndrome, see McCune-Albright syndrome ... Albrights syndrome with precocious puberty, see McCune-Albright syndrome. *Albright-McCune-Sternberg syndrome, see McCune- ... Action myoclonus-renal failure syndrome, see Action myoclonus-renal failure syndrome. *Action myoclonus-renal failure syndrome ...
Alstrom Syndrome. *Angelman Syndrome. *Bardet-Biedl Syndrome. *Barth Syndrome. *Basal Cell Nevus Syndrome ... Chen J, Gao XM, Zhao H, Cai H, Zhang L, Cao XX, Zhou DB, Li J. A highly heterogeneous mutational pattern in POEMS syndrome. ... "POEMS Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... He T, Tian Z, Liu YT, Li J, Zhou DB, Fang Q. Evaluating heart function in patients with POEMS syndrome. Echocardiography. 2019 ...
Alstrom Syndrome Alternaria Alternariosis Alternative Splicing Alteromonadaceae Alteromonas Althaea Altitude Altitude Sickness ... CREST Syndrome Creutzfeldt-Jakob Syndrome Crew Resource Management, Healthcare Cri-du-Chat Syndrome Cricetinae Cricetulus ... Acute Radiation Syndrome Acute Retroviral Syndrome Acute-On-Chronic Liver Failure Acute-Phase Proteins Acute-Phase Reaction ... Bartter Syndrome Basal Bodies Basal Cell Nevus Syndrome Basal Forebrain Basal Ganglia Basal Ganglia Cerebrovascular Disease ...
Iridocorneal Endothelial Syndrome. Síndrome Endotelial Iridocorneal. Síndrome de Alstrom. Alstrom Syndrome. Síndrome de Alstrom ... Liddle Syndrome. Síndrome de Liddle. C19 - Doenças do Sistema Endócrino. Síndrome de Donohue. Donohue Syndrome. Síndrome de ... Alien Hand Syndrome. Síndrome de la Mano Extraña. Síndrome das Unhas Amareladas. Yellow Nail Syndrome. Síndrome de la Uña ... Loeys-Dietz Syndrome. Síndrome de Loeys-Dietz. Síndrome de Silver-Russell. Silver-Russell Syndrome. Síndrome de Silver-Russell ...
Iridocorneal Endothelial Syndrome. Síndrome Endotelial Iridocorneal. Síndrome de Alstrom. Alstrom Syndrome. Síndrome de Alstrom ... Liddle Syndrome. Síndrome de Liddle. C19 - Doenças do Sistema Endócrino. Síndrome de Donohue. Donohue Syndrome. Síndrome de ... Alien Hand Syndrome. Síndrome de la Mano Extraña. Síndrome das Unhas Amareladas. Yellow Nail Syndrome. Síndrome de la Uña ... Loeys-Dietz Syndrome. Síndrome de Loeys-Dietz. Síndrome de Silver-Russell. Silver-Russell Syndrome. Síndrome de Silver-Russell ...
Iridocorneal Endothelial Syndrome. Síndrome Endotelial Iridocorneal. Síndrome de Alstrom. Alstrom Syndrome. Síndrome de Alstrom ... Liddle Syndrome. Síndrome de Liddle. C19 - Doenças do Sistema Endócrino. Síndrome de Donohue. Donohue Syndrome. Síndrome de ... Alien Hand Syndrome. Síndrome de la Mano Extraña. Síndrome das Unhas Amareladas. Yellow Nail Syndrome. Síndrome de la Uña ... Loeys-Dietz Syndrome. Síndrome de Loeys-Dietz. Síndrome de Silver-Russell. Silver-Russell Syndrome. Síndrome de Silver-Russell ...
Alpha-thalassemia/mental retardation syndrome, x-linked. *Alstrom syndrome. *Alzheimer disease. *Amylo-1,6-glucosidase ...
  • Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation . (bvsalud.org)
  • A novel ALMS1 mutation was identified in this case report , highlighting the importance of genetic testing for the early diagnosis of Alstrom syndrome . (bvsalud.org)
  • Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. (medlineplus.gov)
  • We also hope to get an idea of the number of individuals/families with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find the causative mutations. (nih.gov)
  • Through presentations and discussions, we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders to learn about unknown biological pathways regulating energy balance, and to encourage further human research to shed light on why obesity occurs in some individuals with the "same" syndrome but not in others. (nih.gov)
  • The tripartite character of the tubby phenotype is highly similar to human obesity syndromes, such as Alstrom and Bardet-Biedl. (embl.de)
  • Alström syndrome is inherited in an autosomal recessive manner. (medlineplus.gov)
  • HN - 2010 MH - Alstrom Syndrome UI - D056769 MN - C10.500.300.99 MN - C10.574.500.495.99 MN - C10.668.829.800.300.99 MN - C11.270.684.249 MN - C16.131.77.80 MN - C16.131.666.300.99 MN - C16.320.290.684.249 MN - C16.320.400.375.99 MS - Rare autosomal recessive disease characterized by multiple organ dysfunction. (nih.gov)
  • Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
  • In some instances an abnormal face shape may be one of the features of a rare disease or genetic syndrome. (fdna.health)
  • Additionally, he investigates systemic hereditary diseases that can affect the eye such as Usher syndrome, Bardet-Biedl syndrome, Alstrom syndrome, Joubert syndrome, WAGR syndrome, and albinism. (nih.gov)
  • POEMS Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • Infant Alstrom syndrome diagnosed by a new gene mutation: a case report. (bvsalud.org)
  • Insulin-resistance syndromes include those with mutations in the insulin receptors (ie, leprechaunism, Rabson-Mendenhall syndrome), peroxisome proliferator-activated receptor gamma (ie, type 1 diabetes with acanthosis nigricans and hypertension), 1-acylglycerol-3-phosphate O-acyl transferase-2 or seipin (Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. (medscape.com)
  • At this workshop, we will hear about several disorders (Prader-Willi syndrome, ciliopathies, and lipodystrophies) where patients/families have been identified and phenotyped, the causative mutations defined, and progress has been made in elucidating how the affected protein(s) and pathway(s) impact energy balance. (nih.gov)
  • Zhao H, Gao XM, Cao XX, Zhang L, Zhou DB, Li J. Revealing serum lipidomic characteristics and potential lipid biomarkers in patients with POEMS syndrome. (uams.edu)
  • HN - 2010 FX - Polysomnography MH - Acute Chest Syndrome UI - D056586 MN - C8.381.74 MN - C8.618.09 MN - C15.378.71.141.150.150.219 MN - C15.378.420.155.219 MN - C16.320.70.150.219 MN - C16.320.365.155.219 MS - Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. (nih.gov)
  • Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome. (nih.gov)
  • A syndrome, by definition, is a group of signs and symptoms that occur together and form an identifiable pattern. (fdna.health)
  • Las manifetaciones clínicas clave son degeneración retiniana (NISTAGMO PATOLÓGICO, RETINITIS PIGMENTOSA y eventual ceguera), obesidad en la niñez, sordera neurosensorial y desarrolo mental normal. (bvsalud.org)
  • Alström syndrome is a very rare disease. (medlineplus.gov)
  • Innovators will but put through their paces in a dragon's den style session by judges Lou Jopling - Commercial Director at EAHSN, rare disease policy expert Alastair Kent, Sean Richardson the General Manager of Alexion Astra Zeneca, founder of Timothy Syndrome Alliance - Sophie Muir and CamRARE's Chair, Dr Gemma Chandratillake. (camraredisease.org)
  • Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole- exome sequencing . (bvsalud.org)
  • Dr. Zein has been the principal investigator of the NEI Usher syndrome protocol 05-EI-0096 since 2010. (nih.gov)
  • I can give you the numbers for people who suffer from Stoneman Syndrome, it's 1 in 2,000,000. (mylifemymigraine.com)
  • This graph shows the total number of publications written about "POEMS Syndrome" by people in UAMS Profiles by year, and whether "POEMS Syndrome" was a major or minor topic of these publications. (uams.edu)
  • Below are the most recent publications written about "POEMS Syndrome" by people in Profiles over the past ten years. (uams.edu)
  • Liu LS, Zhang X, Zhao H, Gao XM, Zhou DB, Dai RP, Li J. Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome. (uams.edu)
  • Zhao H, Cai H, Wang C, Huang XF, Cao XX, Zhang L, Zhou DB, Li J. Prognostic value of serum vascular endothelial growth factor and hematological responses in patients with newly-diagnosed POEMS syndrome. (uams.edu)