Disease relevance of Rare Diseases

• This newly identified mechanism of mutation has, so far, been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA [1].
• Virions isolated from warts of 2 siblings with epidermodysplasia verruciformis (EV), a rare disease characterized by the lifelong growth of warty skin tumors containing papova-like virions, were compared to isolates of human papillomavirus (HPV) from 3 pools of plantar and common hand warts [2].
• X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vaso-pressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28 [3].
• Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect [4].
• Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells [5].

Psychiatry related information on Rare Diseases

• PURPOSE: The Marshall-Smith Syndrome (MSS) is a rare disease characterized by orofacial dysmorphism, failure to thrive, accelerated osseous maturation and mental retardation [6].
• Among the epilepsies, the progressive myoclonus epilepsies (PMEs) form a heterogeneous group of rare diseases characterized by myoclonus, epilepsy, and progressive neurologic deterioration, particularly dementia and ataxia [7].

High impact information on Rare Diseases

• Although differing in detail, these relatively rare diseases are related in their immunopathology to the much commoner rheumatoid arthritis (RA), for which they serve as both model and control [8].
• Although acute promyelocytic leukemia remains an "orphan" disease, its importance as a model for human neoplasia should not be minimized [9].
• A mouse model for this rare disease has been created by knocking out the gene that encodes lamin A/C [10].
• Peripartum cardiomyopathy: National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of Health) workshop recommendations and review [11].
• Long-term clinical trials of interferon and deoxycoformycin are essential to advance our biologic knowledge of this rare disease, and to ensure optimal therapy for a potentially curable malignancy [12].

Chemical compound and disease context of Rare Diseases

• Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration [13].
• The probable cause of abnormal LTs was excessive alcohol in 45.6%, HCV in 18.6%, HBV in 1%, alcohol plus HCV and/or HBV in 8.8%, and rare diseases in 2% [14].
• Therapy for this rare disease is based on treatments used for psoriatic arthritis, but traditional disease-modifying antirheumatic drugs, such as sulfasalazine and methotrexate, have shown inconsistent and unsatisfactory results [15].
• CONCLUSION: Liver adenomatosis is a rare disease, more common in women, where outcome and evolution vary and are exacerbated by estrogen intake [16].
• X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) [17].

Biological context of Rare Diseases

• The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP) [18].
• However, RP9 is a rare disease and only two missense mutations have been described, so the report of a link between PAP-1 and RP9 was tentative [19].
• The conformity of these genetic features in two patients with a rare disease manifestation leads us to the assumption that either the clustered amplification of the BCR/ABL fusion gene or the integration of this cluster into the short arm of chromosome 17 or both are associated with extramedullar disease progression in CML [20].
• Recent studies have shown that this rare disease has its origin in key mutations in Hesx-1, a protein that plays a critical role in normal development of the forebrain, eyes, and other anterior structures during embryogenesis [21].
• We propose a hypothesis based on a gain-of-function mutation of the luminal anion exchanger of the proximal tubulus to explain reduced uric acid excretion, dominant inheritance and apoptosis of tubular epithelial cells in this rare disease [22].

Anatomical context of Rare Diseases

• BACKGROUND: Pseudomyxoma peritonei (PMP) is a rare disease with a poor prognosis characterized by a complete redistribution of mucin within the peritoneal cavity [23].
• Acquired amegakaryocytic thrombocytopenic purpura (AATP) is a rare disease, characterized by isolated thrombocytopenia and the absence of megakaryocytes in bone marrow [24].
• Resistance to thyroid hormone (RTH) is a rare disease characterized by goiter and elevated free thyroid hormone (TH) levels in the presence of detectable concentrations of TSH [25].
• AIM: To evaluate the clinical presentations of solid-pseudopapillary tumor of the pancreas (SPT) and examine the diagnosis, treatment, low grade malignant potential of this rare disease [26].
• Their etiology is varied: infection, connective tissue disease, trauma, inflammatory arterial disease or other rare diseases such as tuberous sclerosis, neurofibromatosis, or Behçet's disease [27].

Gene context of Rare Diseases

• Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2) [28].
• The identification of defective structures in the ABCG5 or ABCG8 transporters in patients with the rare disease of sitosterolemia elucidated their role as sterol efflux pumps regulating at least in parts the intestinal sterol absorption and the hepatic sterol output [29].
• Several rare diseases or disorders, such as LCAT- and LPL-deficiency as well as liver diseases, are associated with low plasma levels or lack of Lp(a) [30].
• Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene [31].
• Recently, we and others could define the molecular cause of the rare disease congenital amegakaryocytic thrombocytopenia (CAMT) as mutations in the c-mpl gene (Blood 97: 139, 2001) [32].

Analytical, diagnostic and therapeutic context of Rare Diseases

• Autoimmune hepatitis (AIH) is a rare disease, characterized by female predominance, hypergammaglobulinemia, autoantibodies, association with HLA DR3 and HLA DR4 and a good response to immunosuppression [33].
• There are at least four complementation groups and the genetic and molecular dissection of this rare disease has contributed considerably to our current understanding of the molecular mechanisms governing MHC class II expression [34].
• BACKGROUND: Formalin fixed and paraffin wax embedded tissues of necropsy origin are an important source for molecular analysis especially in rare diseases, neuropathology, or molecular epidemiology studies [35].
• Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the distribution of this rare disease [36].
• Pulmonary alveolar proteinosis is a rare disease but an important diagnosis to make as treatment with pulmonary lavage is curative in a large proportion of patients [37].

References