Alstrom Syndrome
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.
Serbia
Bardet-Biedl Syndrome
Blindness
Cilia
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)
Proteins
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.
Retinal Dystrophies
Fund Raising
Sick Building Syndrome
A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)
Irritable Bowel Syndrome
Cellulitis
Centrioles
Centrosome
The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).
Drosophila
Testis
Drosophila Proteins
Drosophila melanogaster
Multiple Organ Failure
Pedigree
Hearing Loss, Sensorineural
Transaminases
Cryptorchidism
A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.
Hypogonadism
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Gonadal Dysgenesis, 46,XX
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Wiskott-Aldrich Syndrome Protein
Dry Eye Syndromes
Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur.
Eye
Eye Injuries
Group II Chaperonins
Laurence-Moon Syndrome
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Polydactyly
Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Retinal Degeneration
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
United States Social Security Administration
An independent agency within the Executive Branch of the United States Government. It administers a national social insurance program whereby employees, employers, and the self-employed pay contributions into pooled trust funds. Part of the contributions go into a separate hospital insurance trust fund for workers at age 65 to provide help with medical expenses. Other programs include the supplemental social security income program for the aged, blind, and disabled and the Old Age Survivors and Disability Insurance Program. It became an independent agency March 31, 1995. It had previously been part of the Department of Health, Education, and Welfare, later the Department of Health and Human Services. (From United States Government Manual, 1994-95)
Insurance, Disability
Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)
Computer Security
Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.
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)
Alstrom Syndrome
Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and...
Alstrom Syndrome UK - JustGiving
Fillable Online alstrom org Now we set our sights on Europe - Alstrom Syndrome UK Fax Email Print - PDFfiller
Combined Occurrence of Alstrom Syndrome and Bronchiectasis - Novi Eye Associates LLC
Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis | eLife
Mike Kirby
Alström syndrome - Wikipedia
Alstroms syndrome - RightDiagnosis.com
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome
All screenings for gene ALMS1 - Shared database
A candidate gene for the mouse mutation tubby. by Trauth K. Noben, J K. Naggert et al.
Latest News
Left With No Money, Russian Tourist Seeks Alms At Tamil Nadu Temple
Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial...
Alms of the Blind Horse - Variety
Dani Rodriks weblog: Give A Farewell to Alms credit
Alms : Jing shi - University of San Diego Libraries
RTR CORVETTE C6R 2007 ALMS #4 D1431070102 - KYOSHO RC
National Conversation on Rare Diseases Survey - Alstrom Syndrome
Clinical and Molecular Investigations Into Ciliopathies - Full Text View - ClinicalTrials.gov
Clinical and Molecular Investigations Into Ciliopathies - Full Text View - ClinicalTrials.gov
Nephronophthisis Sequencing Panel | The University of Chicago Genetic Services
Hav dwelt here ever. No alms. Veri pore: life experiences of the poor in sixteenth-century Norwich - a longitudinal study</em>...
Muslimgauze - Alms For Iraq - Soundohm
ALMS1 - PrimePCR Assay and Template | Life Science | Bio-Rad
A&I - An sthesiologie und Intensivmedizin
Why Did The Industrial Revolution Sart In England? | Terryorisms
ALMS: Smith turns the tables for Dyson at VIR, captures P1 Pole » Flagworld.com
Libro.fm | Mrs. Jeffries and the Alms of the Angel Audiobook
Submissions for variant NM 001378454.1(ALMS1):c.4962G|T (p.Lys1654Asn) (rs28730853) -
ClinVar Miner
Submissions for variant NM 001378454.1(ALMS1):c.5433G|C (p.Lys1811Asn) (rs78039319) -
ClinVar Miner
The Next Level :: View topic - Eureka! Solved: The Mind/Matter Genesis
John Predmore: To the Frontiers: February 2013
anti-ALMS1 antibody (C-Term) | Product No. ABIN350040
Acts 3:2 - KJV - And a certain man lame from his mothers womb w...
Online Health Resources - genetic disorders
160 DIFFUSE FIBROSIS IN ALSTRöM SYNDROME: A MARKER OF DISEASE PROGRESSION | Heart
Alternative therapy for lupus nephritis
Advice message
Feast of St. Lawrence, deacon and martyr - August 10, 2013 - Liturgical Calendar | Catholic Culture
Dana Paramita | White Wind Zen Community
JUDGMENT entered that claims of Plaintiff are dismissed with prejudice for Alms v. Laboratory Corporation of America et al ::...
Walt Whitman - Wikiquote
phrenology101: September 2007
Condemned to death
Thais celebrate kings birthday amid widening royal insult probe | The Star Online
Alms (Zakat) is a remedy for economic recession - Alukahs Special File on Fasting - Islamic Shariah - Alukah.net
My Edo Husband Ran Away, So We Live on Begging -Mother of Triplets
Alms (and arms) for oblivion? - The Mail & Guardian
Dunlop Double-Stint Earns BMW a Long Beach Podium
KIAA1543抗体|Abcam中国|Anti-KIAA1543抗体
Alms1, centrosome and basal body associated protein
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 ...
ALMS1
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 ...
C2orf81
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 ...
Alström syndrome
Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, ... "Alstrom syndrome". Nature's Corner. Retrieved 2015-12-06. CS1 maint: discouraged parameter (link)[permanent dead link] "Alstrom ... "Alstrom Syndrome". Healthline. Retrieved 2015-12-06. CS1 maint: discouraged parameter (link) Alström Syndrome Marshall J, ... ALSTROM SYNDROME; ALMS". www.omim.org. Retrieved 2019-07-16. Alstrom, C. H.; Hallgren, B.; Nilsson, L. B.; Asander, H. (1959 ...
Joubert syndrome
Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. Joubert syndrome type 2 is disproportionately ... Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first ... NINDS Joubert Syndrome Information Page Researchers Identify Joubert Syndrome Genes GeneReviews: Joubert syndrome University of ... "Joubert syndrome". Genetics Home Reference. Retrieved 2016-12-19. Reference, Genetics Home. "Joubert syndrome". Genetics Home ...
List of diseases (A)
... 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 ...
Alstrom Syndrome UK - JustGiving
Fundraise or donate to Alstrom Syndrome UK with JustGiving, the worlds leading online fundraising platform, helping charities ... About Alstrom Syndrome UK. We support and empower families who are affected by one of the rarest diseases in the world, Alstrom ... Alstrom Syndrome UK. We offer support, information and hope to families & individuals who are affected. ... Merry Christmas to all the lovely friends we have met through Alstrom Syndrome UK ❤️" ...
Alstrom Syndrome | Bill Holobowski's Fundraiser
My cousin, Phyllis Aschenbrenner, is the Chairperson for Alstrom Syndrome International, a nascent 501 (c)(3) registered ... Alstrom Syndrome is a rare genetic disease that affects many parts of the body, characterized by any of a number of conditions ... Alstrom Syndrome is a rare genetic disease that affects many parts of the body, characterized by any of a number of conditions ... My cousin, Phyllis Aschenbrenner, is the Chairperson for Alstrom Syndrome International, a nascent 501 (c)(3) registered ...
Search of: 'Alstrom syndrome' - Modify Search - ClinicalTrials.gov
Alms1 - Alstrom syndrome protein 1 homolog - Mus musculus (Mouse) - Alms1 gene & protein
Alstrom syndrome protein 1 homologAdd BLAST. 3251. Amino acid modifications. Feature key. Position(s). DescriptionActions. ... "Alms1-disrupted mice recapitulate human Alstrom syndrome.". Collin G.B., Cyr E., Bronson R., Marshall J.D., Gifford E.J., Hicks ... "Alms1-disrupted mice recapitulate human Alstrom syndrome.". Collin G.B., Cyr E., Bronson R., Marshall J.D., Gifford E.J., Hicks ... "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.". Collin G.B., Marshall J. ...
Alstrom's syndrome - RightDiagnosis.com
... and treatment information for Alstroms syndrome (Alstrom syndrome) with alternative diagnoses, full-text book chapters, ... Alstrom syndrome »Symptoms of Alstrom syndrome Alstroms syndrome: Related Diseases. Alstroms syndrome: Alstroms syndrome is ... Alstrom syndrome: »Introduction: Alstrom syndrome »Symptoms of Alstrom syndrome Alstroms syndrome: Rare Disease. Office of ... Terms associated with Alstroms syndrome:. Terms Similar to Alstroms syndrome:. *Alstrom syndrome *ALMS *ALSS Source - NIH ...
Alstrom Syndrome International - Resource Directory - About Special Kids
Tramlines - Alstrom Syndrome
The Ticket Bank is for charities and community organisations that want to improve access to the arts, music events and cultural activities for their members who experience barriers to attending these events. Ticket Bank believe that all events should be accessible and socially inclusive and they provide free tickets to such events. They hope that. ...
AlstromStroove - Alstrom Syndrome
Groove to the Alstrom Stroove - Sneak Peek!. Date: 17 Jan, 2020 No Comments ASUK USER ... This film is a must see - bringing together clinicians, families and the ASUK team to Groove to the Alstrom Stroove! Alström ... Syndrome UK are always looking for fun and innovative ways to stay fit and healthy. Alström can often lead to obesity and type ...
Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis | eLife
Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis. ... This study provides evidence for the role of the Alms1a, a Drosophila homolog of the human ciliopathy gene Alstrom syndrome, as ... Here, we show that Alms1a, a Drosophila homolog of the human ciliopathy gene Alstrom syndrome, is enriched on the mother ... Here, we identify Alms1a, a Drosophila homolog of the causative gene for the human ciliopathy Alstrom syndrome, as a GSC- ...
"Alstrom Syndrome (OMIM 203800): A Case Report and Literature Review" by Tisha Joy, Henian Cao et al.
Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia ... Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are ... Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key ... Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia ...
Alstrom syndrome (OMIM 203800): a case report and literature review | Orphanet Journal of Rare Diseases | Full Text
Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia ... Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are ... Dyer DS, Wilson ME, Small KW, Pai GS: Alstrom syndrome: a case misdiagnosed as Bardet-Biedl syndrome. Journal of pediatric ... Alstrom syndrome (AS; OMIM 203800) was first described in 1959 and has an estimated prevalence of ,1:100 000 [1, 2]. AS is an ...
Alstrom syndrome | definition of Alstrom syndrome by Medical dictionary
Alstrom syndrome explanation free. What is Alstrom syndrome? Meaning of Alstrom syndrome medical term. What does Alstrom ... Looking for online definition of Alstrom syndrome in the Medical Dictionary? ... Related to Alstrom syndrome: Angelman syndrome, Cohen syndrome, Prader Willi syndrome. Al·ström syn·drome. (ahlstrem), [MIM* ... A rare cause of dilated cardiomyopathy; Alstrom syndrome/Dilate kardiyomiyopatinin nadir bir nedeni; Alstrom sendromu ...
Alstrom Syndrome
... - 4 Studies Found. Status. Study Recruiting. Study Name: Clinical Study of a Single Ciliopathy: Alström ... Condition: Alström Syndrome (ALMS). Date: 2016-08-19. Recruiting. Study Name: Safety and Tolerability of PBI-4050 and Its ... Effects on the Biomarkers in Subjects With Alström Syndrome. Condition: *Inflammation and Fibrosis ...
Alstrom Syndrome - Retina UK
In Alström syndrome, inherited progressive eye disease is accompanied by obesity, hearing loss, diabetes, and heart problems.. ... Abnormalities in the gene, ALMS1, have been identified as the cause of Alström syndrome. ... Alstrom Syndrome UK. https://rarediseases.org/rare-diseases/alstrom-syndrome/. https://ghr.nlm.nih.gov/condition/alstrom- ... Further detailed information on Alström syndrome is available from:. ...
Alstrom syndrome protein 1
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.. 25846608. 2015. Alström Syndrome: Mutation Spectrum ... Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of ... A novel ALMS1 mutation (p.Q2051X) causes Alstrom syndrome in two Japanese brothers but spares their heterozygous parents.. ... Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the ...
Cases reported • Alstrom syndrome; Alstrom's Syndrome
Alstroms Syndrome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or ... Three patients with the abdominal compartment syndrome are presented and discussed. In one of the patients the condition was ... The development of the syndrome as a remote effect of local trauma has never been reported previously. In all three instances ... polyarteritis nodosa (PAN) is a rare vasculitic syndrome in childhood. There are few reported cases of ischaemic necrosis of ...
Alstrom Syndrome
... (ALSS): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance. It is characterized by ... Prevention - Alström syndrome Prevention for Alström Syndrome is considered to be harder compared to other diseases/syndromes ... Diagnosis - Alström syndrome Prognosis - Alström syndrome A prognosis for Alström syndrome is complicated because it widely ...
Combined Occurrence of Alstrom Syndrome and Bronchiectasis - Novi Eye Associates LLC
Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the ... Combined Occurrence of Alstrom Syndrome and Bronchiectasis. Posted by cenblog on March 1, 2014. ... Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the ...
Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and...
Genetic testingrevealed a mutation in exon 8 (c.4746C , A) of the Alström syndrome protein 1 (ALMS1) gene and this is the first ... Alström syndrome (AS) is a rare, autosomal recessive disorder characterized by progressive cone-rod dystrophy, childhood ... Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and ... Alstrom Syndrome with a Mutation in Exon8 (C.4746C , A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and ...
Educational Resources - American Association for Pediatric Ophthalmology and Strabismus
International Society for Alstrom Syndrome Families. The International Society for Alstrom Syndrome Families is committed to ... Usher Syndrome Coalition. The Usher Syndrome Coalitions mission is to raise awareness about Usher syndrome as the leading ... and coordination worldwide to families and professionals in order to treat and cure Alström Syndrome. ... encourage and to provide information and support to individuals and families affected by Usher syndrome. ...
California CA - Cocaine Anonymous - The Agape Center
Alström syndrome: MedlinePlus Genetics
Alström syndrome is a rare condition that affects many body systems. Explore symptoms, inheritance, genetics of this condition. ... medlineplus.gov/genetics/condition/alstrom-syndrome/ Alström syndrome. ... Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis. 2007 Dec 21;2:49. Review. Citation on ... changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin ...
ALMS1, centrosome and basal body associated protein ELISA Kits | Biocompare.com
Alström's syndrome | Define Alström's syndrome at Dictionary.com
ENSDARG00000074779 - Zebrafish Mutation Project - Wellcome Sanger Institute
Eye Conditions - RNIB - Supporting people with sight loss
Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)
Alstrom syndrome. Alstrom syndrome is a rare autosomal recessive disorder characterized by vision and hearing abnormalities, ... Biemon II syndrome. Biemond II syndrome is inherited as an autosomal recessive trait. This syndrome is an extremely rare ... Meckel syndrome. Meckel syndrome, also known as Meckel-Gruber syndrome, is inherited as an autosomal recessive disorder. This ... Bardet-Biedl syndrome was historically termed Laurence-Moon-Biedl-Bardet syndrome by the physicians who described the first ...
Diseases in fast-track Social Security program | Home | The Journal Gazette
Allan-Herndon-Dudley syndrome. Alobar holoprosencephaly. Alpers disease. Alpha mannosidosis - type II and III. Alstrom syndrome ... Hepatopulmonary syndrome. Hepatorenal syndrome. Histiocytosis syndromes. Hutchinson-Gilford progeria syndrome. Hydranencephaly ... Cri du chat syndrome. Degos disease, systemic. DeSanctis cacchione syndrome. Dravet syndrome. Early-onset Alzheimers disease. ... Usher syndrome - type I. Walker Warburg syndrome. Wolf-Hirschhorn syndrome. Wolman disease. Xeroderma pigmentosum. Zellweger ...
Orphanet: Recherche simple de consultations
Alstrom syndrome treatment NHS Specialised Service (Children) Birmingham Childrens Hospital NHS Foundation Trust ... Centre of Expertise for syndromic obesity (Bardet-Biedl syndrome; Prader-Willi syndrome) A.O.U. Ospedale di Circolo e ... Moebius syndrome specialised clinic H pital des Enfants - H pitaux Universitaires de Gen ve HUG ... Bardet-Biedl syndrome treatment NHS Specialised Service (Children) Birmingham Childrens Hospital NHS Foundation Trust ...
Alström syndrome - Wikipedia
Thus, Alstrom syndrome is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, ... "Alstrom syndrome". Natures Corner. Retrieved 2015-12-06. CS1 maint: discouraged parameter (link)[permanent dead link] "Alstrom ... "Alstrom Syndrome". Healthline. Retrieved 2015-12-06. CS1 maint: discouraged parameter (link) Alström Syndrome Marshall J, ... ALSTROM SYNDROME; ALMS". www.omim.org. Retrieved 2019-07-16. Alstrom, C. H.; Hallgren, B.; Nilsson, L. B.; Asander, H. (1959 ...
Alms1ALMSBardet-BiedlOMIMMetabolicDilated cardiomyopathyObesityGeneticsMutationMutationsInsulin resistanceHomologDisorders2018SymptomsAlstr m SyndromeRetinitis-PigmentosaCiliopathySkeletalComplicationsDiagnosisChildhoodAlstrom'sBlindnessUsherFamiliesSpinocerebellarClinicalRareGenesDiseaseGBMCDisorderKindredsVentricularInternationalRetinal degenerationCongenital RubellaPresentation
Alms120
- Abnormalities in the gene, ALMS1, have been identified as the cause of Alström syndrome. (retinauk.org.uk)
- In this study, we have characterized the presenting ophthalmic phenotype of young children molecularly confirmed to harbor recessive homozygous ALMS1 mutations but not yet diagnosed with Alstrom syndrome. (nih.gov)
- A novel ALMS1 mutation (p.Q2051X) causes Alstrom syndrome in two Japanese brothers but spares their heterozygous parents. (nih.gov)
- Alström Syndrome: Mutation Spectrum of ALMS1. (nih.gov)
- Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. (novieyes.com)
- A) of the Alström syndrome protein 1 ( ALMS1 ) gene and this is the first report of this mutation in AS. (ommegaonline.org)
- Mutations in the ALMS1 gene cause Alström syndrome. (medlineplus.gov)
- Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. (medlineplus.gov)
- Alstr m syndrome is a genetic condition caused by the ALMS1 gene. (medindia.net)
- Hence, if the child inherits one mutated copy of ALMS1 from each parent, then the child is affected with Alstr m syndrome while the unaffected parents would be called carriers of the disease. (medindia.net)
- Alstr m syndrome is diagnosed by genetically testing the ALMS1 gene when other diagnostic criteria fail to confirm the condition. (medindia.net)
- A synthetic peptide from C-terminal region of mouse Alstrom syndrome protein 1 homolog (ALMS1) conjugated to an immunogenic carrier protein was used as the antigen. (antibodies-online.com)
- It is caused by mutations in the gene ALMS1, which is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. (wikipedia.org)
- Alström syndrome is caused by a mutation in the ALMS1 gene, located on the short arm of chromosome 2 (2p13.2). (wikipedia.org)
- This means both parents have to pass a defective copy of the ALMS1 gene in order for their child to have the syndrome, even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
- Defects in ALMS1 are the cause of Alstrom syndrome (ALMS) [MIM:203800]. (abcam.com)
- Alström syndrome is caused by a mutation in the ALMS1 gene. (diabetes.co.uk)
- If each parent has a mutation in the ALMS1 gene, there is a 1 in 4 chance that each child they have will develop Alström syndrome. (diabetes.co.uk)
- Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. (nih.gov)
- Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations in the gene ALMS1 . (wn.com)
ALMS1
- It shares phenotypic traits with other ciliopathies, such as Alström syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. (bmj.com)
Bardet-Biedl18
- Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. (rarediseases.org)
- Bardet-Biedl syndrome was historically termed Laurence-Moon-Biedl-Bardet syndrome by the physicians who described the first cases of the syndrome. (rarediseases.org)
- It is now generally considered that Bardet-Biedl syndrome and Laurence-Moon syndrome (see Related Disorders) are distinct conditions. (rarediseases.org)
- Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. (nih.gov)
- Alström syndrome is sometimes confused with Bardet-Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet-Biedl syndrome tends to have later onset in its symptoms, includes polydactyly and is caused by mutations in BBS genes. (wikipedia.org)
- Human ciliopathies characterized by variable combinations of these features include autosomal recessive (ARPKD) and dominant (ADPKD) polycystic kidney diseases, nephronophthisis (NPHP), Joubert syndrome and related disorders (JSRD), Bardet-Biedl (BBS), Meckel-Gruber (MKS), Oral-Facial-Digital-type 1 (OFD1), and Alstrom syndromes (AS) and skeletal disorders such as Jeune syndrome (JS) and cleidocranial dysplasia. (clinicaltrials.gov)
- Bardet-Biedl Syndrome (Lawrence-Moon-Bardet-Biedl) - Vision: Progressive (Retinitis Pigmentosa). (tsbvi.edu)
- Background Bardet-Biedl syndrome (BBS) is a pleiotropic recessive disorder that belongs to the rapidly growing family of ciliopathies. (bmj.com)
- Bardet-Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. (springer.com)
- Bardet-Biedl Syndrome is a genetically inherited condition. (news-medical.net)
- There are 14 different genes that may be altered or mutated in individuals with Bardet-Biedl syndrome. (news-medical.net)
- These defective cilia are the basic pathology of Bardet-Biedl syndrome. (news-medical.net)
- These additional changes of genes along with the original changes in the genes are responsible for the variations of signs and symptoms of Bardet-Biedl syndrome. (news-medical.net)
- Bardet-Biedl syndrome is inherited in an autosomal recessive pattern. (news-medical.net)
- There are several genetic disorders that may be associated with Bardet-Biedl syndrome. (news-medical.net)
- Retrieved on September 29, 2020 from https://www.news-medical.net/health/Bardet-Biedl-Syndrome-Pathophysiology.aspx. (news-medical.net)
- Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome , which has similar symptoms. (wn.com)
- Bardet-Biedl syndrome tends to have later onset in its symptoms. (wn.com)
OMIM2
- Alstrom Syndrome (OMIM 203800): A Case Report and Literature Review" by Tisha Joy, Henian Cao et al. (uwo.ca)
- Alström syndrome (AS) [1] (OMIM: 203800), a very rare autosomal recessive disorder, was first reported by Alström in 1959 [2] . (ommegaonline.org)
Metabolic6
- Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. (medlineplus.gov)
- Additional features in AS include metabolic syndrome associated with insulin resistance and hyperlipidemia, cardiomyopathy and sensorineural deafness. (clinicaltrials.gov)
- Infection and metabolic syndrome lead to a loss of molecular regulation, and changes in molecular correlations are under genetic control as revealed by the presence of correlation quantitative trait loci. (elifesciences.org)
- Metabolic syndrome (syndrome X) - Note that a patient with the metabolic syndrome may be asymptomatic in spite of the presence of some, or even most, of the components of insulin resistance syndrome. (medscape.com)
- Obesity often leads to metabolic syndrome, a combination of adverse health conditions that includes dyslipidemia, hypertension, glucose intolerance and insulin resistance ( O'Neill and O'Driscoll, 2014 ). (biologists.org)
- Isocaloric Fructose Restriction Reduces Serum D-Lactate Concentration in Children With Obesity and Metabolic Syndrome. (amedeo.com)
Dilated cardiomyopathy4
- Clinical features and complications of Alstrom syndrome Patient Presentation (*) Literature, % in the present study Retinal degeneration 98 + Sensorineural deafness 89 + Diabetes 82 + Obesity 98 - Acanthosis nigricans 68 + Hypergonadotropic 78 + hypogonadism Hypothyroidism 17 - Short stature 98 + Hepatic dysfunction 92 + Dilated cardiomyopathy 60 + Renal dysfunction 49 + *- 1. (thefreedictionary.com)
- Alstrom Syndrome is also characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), and short stature. (thefreedictionary.com)
- Hoffman JD, Jacobson Z, Young TL, Marshall JD, Kaplan P. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. (medlineplus.gov)
- Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. (abcam.com)
Obesity13
- Alstrom syndrome, an inherited disorder characterized by retinal degeneration with nystagmus and loss of vision, is associated with childhood obesity. (aboutspecialkids.org)
- An inherited syndrome marked by retinal degeneration with nystagmus and loss of central vision, nerve deafness, childhood obesity, type 2 diabetes, and other conditions. (thefreedictionary.com)
- Alström syndrome (AS) is a rare, autosomal recessive disorder characterized by progressive cone-rod dystrophy, childhood obesity, sensorineural hearing impairment, type 2 diabetes, hypogonadism, and additional abnormalities. (ommegaonline.org)
- BACKGROUND: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. (jax.org)
- Alström syndrome (AS), also called Alström-Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. (wikipedia.org)
- 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)
- Alstrom syndrome is a rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and type 2 diabetes mellitus. (abcam.com)
- Alström syndrome is a rare genetic disorder that is characterised by a number of features, notably including extreme sensitivity to light, hearing problems, heart problems, obesity and type 2 diabetes . (diabetes.co.uk)
- Central obesity, not peripherally distributed fat, is a strong marker of insulin resistance syndrome. (medscape.com)
- Ciliary dysfunction underlies ciliopathies, which are genetic syndromes that manifest multiple clinical features, including renal cystic disease and obesity. (biologists.org)
- Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. (limamemorial.org)
- Morning circadian misalignment is associated with insulin resistance in girls with obesity & Polycystic Ovarian Syndrome. (amedeo.com)
Genetics2
- Clair Francomano, director of adult genetics at the Harvey Institute of Human Genetics at GBMC, will serve as the chair of the scientific advisory board for Alstrom Syndrome International. (thefreedictionary.com)
- Available at http://boystownhospital.org/Hearing/info/genetics/syndromes/ten.asp . (medscape.com)
Mutation2
- The study represents the most comprehensive mutation analysis in patients with Alstrom Syndrome, identifying the largest number of novel mutations in a single study worldwide. (nih.gov)
- We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. (biomedsearch.com)
Mutations4
- Mutations in this gene cause Alstrom syndrome. (nih.gov)
- Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. (nih.gov)
- 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)
- Around 25% of all cases of this syndrome result from mutations in the BBS1 gene. (news-medical.net)
Insulin resistance2
- Combination of hyperglycemia and virilization occurs in several syndromes of insulin resistance. (medscape.com)
- Waist or waist-to-hip ratio, height, weight, and body mass index (BMI) may indicate insulin resistance syndrome. (medscape.com)
Homolog1
- Here, we show that Alms1a, a Drosophila homolog of the human ciliopathy gene Alstrom syndrome, is enriched on the mother centrosome in Drosophila male germline stem cells (GSCs). (elifesciences.org)
Disorders3
- Overall, the total number of children and youth identified with a prenatal congenital or postnatal non-congenital etiology has declined from 2,732 to 2,551 over the past five years, while the number with hereditary syndromes and disorders has increased from 3,945 to 4,482. (nationaldb.org)
- Hereditary syndrome and disorders now account for 44.8% of all identified etiologies. (nationaldb.org)
- Commonly other cilia related disorders may be associated with this syndrome. (news-medical.net)
20181
- In 2018 there were 933 children and youth identified as having CHARGE syndrome. (nationaldb.org)
Symptoms13
- The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder. (medlineplus.gov)
- This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alström syndrome affect many parts of the body. (medlineplus.gov)
- What are the Symptoms and Signs of Alstr m Syndrome? (medindia.net)
- Alstr m syndrome may be diagnosed based on the clinical symptoms, family history, and medical history of the individual. (medindia.net)
- The symptoms of Alstr m syndrome vary among different individuals. (medindia.net)
- Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50. (wikipedia.org)
- Symptoms for Alström syndrome generally appear during infancy with great variability in age. (wikipedia.org)
- It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. (wikipedia.org)
- A diagnosis of Alström syndrome may be made based on presence of the symptoms. (diabetes.co.uk)
- [1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan. (nih.gov)
- The signs and symptoms of Alström syndrome vary among affected individuals. (nih.gov)
- She may be one of about 500 people with Alström syndrome, a rare genetic condition that can cause a series of different symptoms, including progressive vision and hearing loss. (nvrc.org)
- Type B syndrome - Some patients present with symptoms of hypoglycemia, such as sweating, tremulousness, irritability, and an altered level of consciousness. (medscape.com)
Alstr m Syndrome4
- Alstr m syndrome (AS) is a rare genetic disorder that affects infants within the first year. (medindia.net)
- What are the causes of Alstr m Syndrome? (medindia.net)
- Normal intelligence is rarely affected in children with Alstr m syndrome. (medindia.net)
- How do you Diagnose Alstr m Syndrome? (medindia.net)
Retinitis-Pigmentosa3
- Alstrom (Hallgren) Syndrome - Vision: Progressive (Retinitis Pigmentosa). (tsbvi.edu)
- Occasionally LCA may be confused with other retinal problems such as retinitis pigmentosa, congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retinal syndrome, and achromatopsia. (tsbvi.edu)
- This is similar to changes that occur to the retina with retinitis pigmentosa, the vision condition associated with Usher Syndrome. (tsbvi.edu)
Ciliopathy1
- Alström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. (biomedcentral.com)
Skeletal1
- Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. (biomedsearch.com)
Complications1
- Most of the features of Alström syndrome are treatable although health complications of the condition are common. (diabetes.co.uk)
Diagnosis2
- Children with Alström syndrome will usually gain weight quickly, despite eating healthily and diagnosis of type 2 diabetes within childhood is common. (diabetes.co.uk)
- A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. (tcd.ie)
Childhood1
- Alstrom Syndrome is a rare genetic disease that affects many parts of the body, characterized by any of a number of conditions often found in one's childhood, including (but not limited to) degeneration of the retinas, hearing loss, enlarged hearts, Type 2 diabetes and spine and thyroid problems. (crowdrise.com)
Alstrom's3
- Alstrom's syndrome (medical condition): A rare genetic disorder involving a group of. (rightdiagnosis.com)
- Alstrom's syndrome is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
- This means that Alstrom's syndrome, or a subtype of Alstrom's syndrome, affects less than 200,000 people in the US population. (rightdiagnosis.com)
Blindness1
- Foundation Fighting Blindness, 2001) Some children originally diagnosed with LCA were later discovered to have Joubert Syndrome, Alstrom Syndrome, and Senior-Loken Syndrome. (tsbvi.edu)
Usher6
- USH2 = Usher syndrome type 2. (thefreedictionary.com)
- Just because someone has cortical visual impairment, doesn't mean that they are immune to vision loss related to juvenile diabetes or Usher Syndrome. (tsbvi.edu)
- Usher syndrome 1C (autosomal rec. (broadinstitute.org)
- Usher syndrome 1G (autosomal rec. (broadinstitute.org)
- Some of these children were initially misdiagnosed as having Usher Syndrome. (tsbvi.edu)
- Unlike Usher Syndrome, where a progressive loss of vision is typical, vision loss in individuals with LCA usually remains stable through young adult life. (tsbvi.edu)
Families6
- To provide support, information, and coordination world-wide to families and professionals in order to treat and care Alstrom Syndrome. (aboutspecialkids.org)
- This film is a must see - bringing together clinicians, families and the ASUK team to Groove to the Alstrom Stroove! (alstrom.org.uk)
- The International Society for Alstrom Syndrome Families is committed to providing support, information, and coordination worldwide to families and professionals in order to treat and cure Alström Syndrome. (aapos.org)
- The organization, which is affiliated with the Society of Alström Syndrome Families (SASF International Research Group), is committed to raising public and professional awareness of Alström syndrome, promoting research into the cause of the disorder, and engaging in patient advocacy. (rarediseases.org)
- In addition, Alström Syndrome UK conducts family conferences and offers other networking opportunities that enable affected families to exchange information, support, and resources. (rarediseases.org)
- It is estimated that around 200 families in the UK may be affected by Alström syndrome. (diabetes.co.uk)
Spinocerebellar1
- CORD may be syndromic, for example, in Alstrom syndrome and spinocerebellar ataxia type 7, 1 2 but most patients have non-syndromic CORD. (bmj.com)
Clinical3
- We report here the clinical and novel molecular findings in a Caucasian kindred with Alstrom syndrome from the United Kingdom and review the current clinical and molecular genetic aspects of this condition. (biomedcentral.com)
- Clinical utility gene card for: Alström Syndrome - update 2013. (medlineplus.gov)
- Some potential partners for PBI-4050 have asked for additional clarity on the FDA 's view of the clinical development for Alström syndrome , and whether this could actually be the first potential indication for approval ahead of IPF , while others are inquiring about our plans regarding additional fibrosis related indication. (wn.com)
Rare8
- Background: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. (uwo.ca)
- Alstrom Syndrome is so rare there are only 305 people in the world who are recognised as having the condition. (thefreedictionary.com)
- Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance. (symptoma.com)
- Alström syndrome is a rare condition that affects many body systems. (medlineplus.gov)
- Alström syndrome is a rare genetic disorder that causes multiorgan dysfunction. (medindia.net)
- While still relatively rare, the prevalence of children with Stickler syndrome and Dandy Walker syndrome has also increased. (nationaldb.org)
- Some are very rare, with less than five individuals reported nationally, such as Batten disease, Prader-Willi, and Kearns-Sayre syndrome. (nationaldb.org)
- Alström syndrome is a very rare disease. (limamemorial.org)
Genes1
- At least 14 different genes have been identified that may be mutated or altered in individuals with this syndrome. (news-medical.net)
Disease3
- Respiratory: Recurrent respiratory tract infections result in problems ranging from chronic rhinosinusitis to chronic obstructive pulmonary disease (COPD) and acute respiratory distress syndrome (ARDS). (symptoma.com)
- In addition to Niemann Pick Type C disease, some of the newly added conditions for compassionate allowance include Ataxia Telangiectasia, Hurler Syndrome Type IH, Idiopathic Pulmonary Fibrosis, Neonatal Adrenoleukodystrophy, Sanfilippo Syndrome and Wolman disease. (addiandcassi.com)
- In this observational study, 26 patients with Alström syndrome (mean age 27 ± 9 years, 65 % male, 24 h ABPM 130 ± 14 / 77 ± 9 mmHg) without symptomatic cardiovascular disease were recruited from a single centre and compared to matched healthy controls. (biomedcentral.com)
GBMC2
- The center at GBMC represents the culmination of decades of effort to bring more attention to Alstrom Syndrome , Robin Marshall said. (thefreedictionary.com)
- Upcoming Alstrom Syndrome Multidisciplinary Clinic at the Jan D. Marshall Center of Excellence for the Treatment of Alstrom Syndrome at Greater Baltimore Medical Center (GBMC). (alstrom.org)
Disorder2
- also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (nih.gov)
- Alström Syndrome UK was established in 1998 by the parents of two children with the disorder. (rarediseases.org)
Kindreds1
- The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. (nih.gov)
Ventricular1
- Diffuse interstitial myocardial fibrosis is common in Alström syndrome and is associated with impaired left ventricular systolic function. (biomedcentral.com)
International3
- My cousin, Phyllis Aschenbrenner, is the Chairperson for Alstrom Syndrome International, a nascent 501 (c)(3) registered charity. (crowdrise.com)
- Alstrom Syndrome International has made a $500,000 pledge to create the center in Jan Marshall's name. (thefreedictionary.com)
- The Alström Syndrome UK (ASUK) is an international voluntary health organization dedicated to providing information, resources, and support to individuals affected by Alström syndrome, family members, and healthcare professionals. (rarediseases.org)
Retinal degeneration3
- Alström syndrome - retinal degeneration with nystagmus and loss of central vision. (thefreedictionary.com)
- Cockayne Syndrome - Vision: Retinal degeneration. (tsbvi.edu)
- Hunter Syndrome (MPS II) - Vision: Retinal degeneration in some types. (tsbvi.edu)
Congenital Rubella2
- Congenital Rubella Syndrome (CRS), which has long been associated with the development of the deaf-blind technical assistance system, is no longer a prevalent etiology. (nationaldb.org)
- Some conditions such as Congenital Rubella Syndrome have high risk for late onset of cataracts and glaucoma. (tsbvi.edu)
Presentation1
- AND , this year only, an opportunity to attend or participate in a daylong presentation about Alstrom Syndrome for and with guidance from the FDA as part of its Patient-Focused Drug Development (PFDD) Initiative on the day before the actual clinic begins. (alstrom.org)