Possible Causes for heterogeneous disorder Malignant Hyperthermia MH is, however, a heterogeneous genetic disorder with at least five other susceptibility loci being identified. [doi.org] MH, which is a clinically heterogeneous autosomal dominant, pharmacogenetic disorder, with a reduced penetrance and variable expression, has been reported from many countries [ispub.com] The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. [orpha.net] Overeating Engelsk definition A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including [mesh.kib.ki.se] Jejunal Diverticulosis We conclude that (a) intestinal pseudoobstruction is a major clinical manifestation of jejunal diverticulosis, (b) jejunal diverticulosis is a heterogenous disorder associated [ncbi.nlm.nih.gov] A heterogenous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus. [unboundmedicine.com] A heterogeneous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus. Gastroenterology 1983;85:538–47. [PubMed] [Google Scholar] 6. [ncbi.nlm.nih.gov] Pure Hereditary Spastic Paraplegia Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. [ncbi.nlm.nih.gov] BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized by a progressive weakening and spasticity of the lower [ncbi.nlm.nih.gov] Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. [ncbi.nlm.nih.gov] Acral Peeling Skin Syndrome APSS is a clinically and genetically heterogeneous disorder, and this Jordanian pedigree underscores the likelihood of still further heterogeneity. [ncbi.nlm.nih.gov] Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. [ncbi.nlm.nih.gov] Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA: Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. [karger.com] Hereditary Spastic Paraplegia Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders associated with spastic paraparesis (pure HSP) with or without [ncbi.nlm.nih.gov] HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy. [ncbi.nlm.nih.gov] Abstract Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous disorders with the hallmark of progressive spastic gait disturbance. [ncbi.nlm.nih.gov] Distal Spinal Muscular Atrophy Abstract Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. [ncbi.nlm.nih.gov] Distal hereditary motor neuronopathy is a genetically heterogeneous disorder, with multiple genes and mapped loci. [flybase.org] Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. [ncbi.nlm.nih.gov] Congenital Myopathy with Excess of Thin Filaments In conclusion, this approach may be helpful for the identification of clinically undiagnosed patients with highly heterogeneous disorders. [spandidos-publications.com] Introduction Nemaline myopathy (NM) is a genetically and clinically heterogeneous form of myopathy, which has an incidence rate of 1/50,000 live births worldwide ( 1 ). [spandidos-publications.com] The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed. [karger.com] Limb-Girdle Muscular Dystrophy Type 1H Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic [scinapse.io] AB - Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and [moh-it.pure.elsevier.com] Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. [abcam.com] Sarcotubular Myopathy Scapuloperoneal muscular dystrophy is a group of genetically heterogeneous disorders that share the phenotype of progressive weakness of scapular and anterior distal leg muscles [ncbi.nlm.nih.gov] […] remain unclear [6].Scapuloperoneal muscular dystrophy comprises geneti-cally heterogeneous disorders of skeletal muscle associatedwith progressive weakness and wasting of [documents.tips] The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. [orpha.net] Hypergonadotropic Hypogonadism - Partial Alopecia Heart-hand syndrome Slovenian type: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac [ab-y-ss.com] Heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence [antibodyplus.com] Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. [abcam.cn] Acute Alcohol Intoxication […] greater prevalence of chronic disorders, service utilization, and homelessness. [ncbi.nlm.nih.gov] Schumann, Genetics of addictions: strategies for addressing heterogeneity and polygenicity of substance use disorders, Philosophical Transactions of the Royal Society B: Biological [doi.org] CONCLUSIONS: From an overall heterogeneous population, more frequent utilizers of the sobering center, both high and repeat users compared to low users, had significantly [ncbi.nlm.nih.gov] Insect Bite Abstract Primary immunodeficiency diseases (PID) is a heterogeneous group of disorders caused by genetic defects of the immune system, which manifests clinically as recurrent [ncbi.nlm.nih.gov] Polycystic Ovary Syndrome Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. There is evidence for a genetic component in PCOS based on familial clustering of cases. [ncbi.nlm.nih.gov] BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder characterized by chronic ovulatory dysfunction, hyperandrogenism, and polycystic ovaries. [ncbi.nlm.nih.gov] PCOS pathophysiology combines reproductive and metabolic abnormalities into a heterogeneous disorder that has pervasive and devastating health consequences. [ncbi.nlm.nih.gov] Cystitis The disorder is clinically and genetically heterogeneous. [ncbi.nlm.nih.gov] The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). [ncbi.nlm.nih.gov] Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011). [ncbi.nlm.nih.gov] Distal Spinal Muscular Atrophy Type 4 Abstract Lower motor neuron diseases (LMNDs) include a large spectrum of clinically and genetically heterogeneous disorders. [ncbi.nlm.nih.gov] disorders. [dial.uclouvain.be] Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration [uniprot.org] Neurodegeneration with Brain Iron Accumulation disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and [flybase.org] This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders. [ncbi.nlm.nih.gov] Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options [ncbi.nlm.nih.gov] Constipation Phenotypic and genetic heterogeneity in congenital generalized lipodystro phy. J Clin Endocrinol Metab 2003;88:4840-47. 8 Misra A, Garg A. [lipodystrophy.eu] Hepatic steatosis, insulin resistance, and adipose tissue disorders. J Clin Endocrinol Metab 2002;87:3019-22. 7 Agarwal AK, Simha V, Oral EA, et al. [lipodystrophy.eu] Congenital Muscular Dystrophy BACKGROUND: Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated [ncbi.nlm.nih.gov] Abstract Congenital muscular dystrophies (CMD) are a group of heterogeneous disorders. [ncbi.nlm.nih.gov] Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. [ncbi.nlm.nih.gov] Anemia Abstract Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal stem cell disorders characterized by cytopenia and dysplasia. [ncbi.nlm.nih.gov] Homepage Rare diseases Search Search for a rare disease Sideroblastic anemia Disease definition Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired [orpha.net] […] is part of the heterogeneous category of myelodysplastic syndrome (MDS). [atlasgeneticsoncology.org] Hypersensitivity Abstract Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. [ncbi.nlm.nih.gov] OBJECTIVE: Hypersensitivity to carbon dioxide (CO 2 )-enriched air may be a promising risk marker for anxiety disorders. [ncbi.nlm.nih.gov] Allergic and non-allergic asthma are a heterogeneous group of disorders due to inflammation of the air passages in the lungs and affects the sensitivity of the nerve endings [waojournal.biomedcentral.com] Familial Hypocalciuric Hypercalcemia Type 3 CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations [ncbi.nlm.nih.gov] HCC is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. [iofbonehealth.org] A correction has been published 1 Correspondence 14 Citing Articles To the Editor: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three [nejm.org] Alagille Syndrome Mutations in NOTCH2 cuase Alagille syndrome (a heterogenous disorder). D. Warthen, R. McDaniell, A. Pai, J.J.D. Morrissette, B.M. Kamath, D.A. Piccoli, I.D. Krantz, N.B. [ashg.org] This demonstrates that AGS is a heterogeneous disorder and implicates NOTCH2 mutations in human disease. [ncbi.nlm.nih.gov] It has been considered a genetically heterogeneous disorder of the Notch signaling pathway. [ncbi.nlm.nih.gov] Essential Hypertension Essential hypertension is a heterogeneous disorder, with different patients having different causal factors that lead to high BP. [doi.org] Hypertension The central premise of the Center is that hypertension is a heterogeneous disorder; that all patients with hypertension can be evaluated and characterized based on hemodynamic [weillcornell.org] Essential hypertension is a heterogeneous disorder, with different patients having different causal factors that lead to high BP. [web.archive.org] Pseudohypoparathyroidism PHP is a group of heterogeneous disorders defined by targeted organ (kidney and bone) resistance to the action of PTH. [unboundmedicine.com] INTRODUCTION Pseudohypoparathyroidism (PHP) is a rare heterogeneous disorder. [asean-endocrinejournal.org] Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid hormone due to partial deficiency of the α subunit [ncbi.nlm.nih.gov] Gingivitis BACKGROUND: Mucous membrane pemphigoid (MMP) is a heterogeneous group of autoimmune blistering disorders characterized by subepithelial separation and the deposition of immunoglobulins [ncbi.nlm.nih.gov] Conclusion In conclusion, synovitis is clearly present in OA, although it has not been determined if this is inherent to the disorder or a complication of secondary CPPD. [hindawi.com] The exact mechanisms are unknown and there is heterogeneity in the literature with respect to the levels of particular cytokines and inflammatory mediators within different [hindawi.com] Limb-Girdle Muscular Dystrophy Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. [ncbi.nlm.nih.gov] Abstract Limb girdle muscular dystrophy type 2 (LGMD2) is a genetically heterogeneous autosomal recessive disorder caused by mutations in 15 known genes. [ncbi.nlm.nih.gov] disorders. [ncbi.nlm.nih.gov] Insomnia Our hypothesis is that these differences in the expression of cardiovascular activity could be explained by the heterogeneity of the disorder. [ncbi.nlm.nih.gov] The co-occurrence of insomnia (especially early wake-up) and hypersomnia presented with a two-/three- fold increase risk of bipolar disorders. [ncbi.nlm.nih.gov] Restless legs syndrome and sleep-related movement disorders. Continuum (Minneap. Minn.) 23, 1005–1016 (2017). 41. Han, B. et al. [nature.com] Autosomal Recessive Spinocerebellar Ataxia Inherited ataxias are an extremely heterogeneous group of disorders. [experts.umich.edu] Definition Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. [uniprot.org] AB - Inherited ataxias are an extremely heterogeneous group of disorders. [experts.umich.edu]
