Infobox disease Name Pseudohypoparathyroidism Image Caption DiseasesDB 10835 DiseasesDB mult DiseasesDB2 10851 ICD10 ICD10 E 20 1 e 20 ICD9 ICD9 275.49 ICDO OMIM MedlinePlus 000364 eMedicineSubj med eMedicineTopic 1940 MeshID D011547 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone . ref name pmid18372789 cite journal author Bastepe M title The GNAS locus and pseudohypoparathyroidism journal Adv. Exp. Med. Biol. volume 626 issue pages 27 40 year 2008 pmid 18372789 doi 10.1007 978 0 387 77576 0 3 url ref Patients have a low serum calcium and high phosphate , but the parathyroid hormone level PTH is actually appropriately high due to the hypocalcemia . Its pathogenesis has been linked to dysfunctional G Proteins in particular, Gs alpha subunit . Types Types include class wikitable Type Description OMIM Gene Type 1a Has a characteristic phenotypic appearance Albright s hereditary osteodystrophy , including short fourth and fifth metacarpals and a rounded Facies medical facies . It is most likely an Autosomal dominant Autosomal dominant gene autosomal dominant disorder. ref OMIM 103580 ref It is also associated with thyroid stimulating hormone resistance. ref name pmid17405843 cite journal author de Nanclares GP, Fern ndez Rebollo E, Santin I, et al. title Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright s hereditary osteodystrophy journal J. Clin. Endocrinol. Metab. volume 92 ... A title Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred ... of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption ... of pseudohypoparathyroidism types Ia and Ic journal J. Pediatr. Endocrinol. Metab. volume 19 issue ... of pseudohypoparathyroidism type 1a, but is biochemically normal. Presentation and differential ... 1a Pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth ... more details
Imprinting Hypoparathyroidism Skeletal defects low low not applicable Pseudohypoparathyroidism 1A ... Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism ... Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. ref name ... Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism ... may in turn pass along pseudohypoparathyroidism 1A to her children as the Genomic imprinting imprinting ... s ovum during meiosis. Pseudopseudohypoparathyroidism and pseudohypoparathyroidism both involve ... more details
variants have not been determined. Clinical significance Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy , pseudopseudohypoparathyroidism ... ref Deficiencies are associated with Albright hereditary osteodystrophy pseudohypoparathyroidism ... journal author Bastepe M, J ppner H title GNAS locus and pseudohypoparathyroidism. journal Horm ... author Aldred MA title Genetics of pseudohypoparathyroidism types Ia and Ic. journal J. Pediatr ... forms of pseudohypoparathyroidism. journal J. Pediatr. Endocrinol. Metab. volume 19 Suppl 2 issue ... more details
The Chvostek sign also Weiss sign is one of the sign medicine signs of tetany medical sign tetany seen in hypocalcemia . It refers to an abnormal reaction to the stimulation of the facial nerve . When the facial nerve is tapped at the angle of the jaw i.e. masseter muscle , the facial muscles on the same side of the face will contract momentarily typically a twitch of the nose or lips because of hypocalcemia i.e. from hypoparathyroidism, pseudohypoparathyroidism, hypovitaminosis D with resultant hyperexcitability of nerves. Though classically described in hypocalcemia , this sign may also be encountered in respiratory alkalosis , such as that seen in hyperventilation , which actually causes decreased serum Ca sup 2 sup with a normal calcium level due to a shift of Ca sup 2 sup from the blood to albumin which has become more negative in the alkalotic state. It was first described by Franti ek Chvostek , a Austrian Empire Czecho Austrian physician in 1876, and later independently by Nathan Weiss in 1883. The Trousseau sign of latent tetany is also often used to detect early tetany. Chvostek s sign may also be present in hypomagnesemia, frequently seen in alcoholics, persons with diarrhea, patients taking aminoglycosides or diuretics, because hypomagnesemia can cause hypocalcemia. Magnesium is a cofactor for Adenylate cyclase . The reaction that Adenylate Cyclase catalyzes is the conversion of ATP to 3 ,5 cyclic AMP. The 3 ,5 cyclic AMP cAMP is required for Parathyroid hormone activation. References Chvostek F. Beitrag zur Tetanie. Wien Med Press 1876 17 1201 3, 1225 7, 1253 8, 1313 16. Weiss N. Centralbl Gesammt Ther 1883 1 9. cite pmid 9717944 Goljan, EF. Rapid Review Pathology. Mosby, Elsevier, 2007 pp. 504. External links http www.whonamedit.com doctor.cfm 2586.html Franti ek Chvostek http www.whonamedit.com doctor.cfm 2585.html Nathan Weiss Eponymous medical signs for endocrinology Category Symptoms and signs Endocrinology, nutrition, and metabolism med sign ... more details
PBB geneid 8675 Syntaxin 16 is a protein that in humans is encoded by the STX16 gene . ref name pmid9464276 cite journal author Tang BL, Low DY, Lee SS, Tan AE, Hong W title Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins journal Biochem Biophys Res Commun volume 242 issue 3 pages 673 9 year 1998 month Mar pmid 9464276 pmc doi 10.1006 bbrc.1997.8029 ref ref name pmid9587053 cite journal author Simonsen A, Bremnes B, Ronning E, Aasland R, Stenmark H title Syntaxin 16, a putative Golgi t SNARE journal Eur J Cell Biol volume 75 issue 3 pages 223 31 year 1998 month Jun pmid 9587053 pmc doi ref ref name pmid15800843 cite journal author Linglart A, Gensure RC, Olney RC, Juppner H, Bastepe M title A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis acting imprinting control element of GNAS journal Am J Hum Genet volume 76 issue 5 pages 804 14 year 2005 month Apr pmid 15800843 pmc 1199370 doi 10.1086 429932 ref ref name entrez cite web title Entrez Gene STX16 syntaxin 16 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 8675 accessdate ref It has been associated with pseudohypoparathyroidism type Ib. ref name pmid15800843 cite journal author Linglart A, Gensure RC, Olney RC, J ppner H, Bastepe M title A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis acting imprinting control element of GNAS journal Am. J. Hum. Genet. volume 76 issue 5 pages 804 14 year 2005 month May pmid 15800843 pmc 1199370 doi 10.1086 429932 url http linkinghub.elsevier.com retrieve pii S0002 9297 07 60727 7 ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text Interactions STX16 has been shown to Protein protein interaction interact with VAMP4 . ref name pmid11839770 cite journal last Mall ... more details
Original research date July 2011 Refimprove date July 2011 Infobox disease Name Endocrine disease Image Illu endocrine system.png Caption Major endocrine glands. Male left, female on the right. 1. Pineal gland 2. Pituitary gland 3. Thyroid gland 4. Thymus 5. Adrenal gland 6. Pancreas 7. Ovary 8. Testes DiseasesDB ICD10 E00 35 ICD9 ICD9 240 ICD9 259 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D004700 Endocrine diseases are disorders of the endocrine system . The branch of medicine associated with endocrine disorders is known as endocrinology . Types of endocrine disease Broadly speaking, endocrine disorders may be subdivided into three groups Endocrine gland hyposecretion leading to hormone deficiency Endocrine gland hypersecretion leading to hormone excess Tumours benign or malignant of endocrine glands Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone . List of endocrine diseases Adrenal disorders Adrenal insufficiency Addison s disease Mineralocorticoid deficiency Diabetes Adrenal hormone excess Conn s syndrome Cushing s syndrome Glucocorticoid remediable aldosteronism GRA Pheochromocytoma Congenital adrenal hyperplasia adrenogenital syndrome Adrenocortical carcinoma Glucose homeostasis disorders Diabetes mellitus Diabetes mellitus type 1 Type 1 Diabetes Diabetes mellitus type 2 Type 2 Diabetes Gestational Diabetes Mature Onset Diabetes of the Young Hypoglycemia Idiopathic hypoglycemia Insulinoma Glucagonoma Thyroiditis Hashimoto s thyroiditis Thyroid cancer Calcium homeostasis disorders and Metabolic bone disease Parathyroid gland disorders Primary hyperparathyroidism Secondary hyperparathyroidism Tertiary hyperparathyroidism Hypoparathyroidism Pseudohypoparathyroidism Osteoporosis Osteiti ... more details
Paroxysmal kinesigenic choreathetosis PKC also called Paroxysmal Kinesigenic Dyskinesia PKD is a Hyperkinesia hyperkinetic movement disorder characterized by attacks of involuntary movements, which are triggered by sudden voluntary movements. The number of attacks can increase during puberty and decrease in a person s 20 s to 30 s. Involuntary movements can take many forms such as ballism, Choreia chorea or dystonia and usually only affect one side of the body or one limb in particular. This rare disorder only affects about 1 in 150,000 people ref name khan Khan, W. U., Staios, G., & Rana, A. Q. 2010 . Paroxysmal Kinesigenic Dyskinesia in a Mother and Daughter. Acta Neurologica Belgica, 110 2 , 201 202. PMID 20873453 ref with PKD accounting for 86.8 of all the types of Paroxysmal dyskinesia paroxysmal dyskinesias ref name analyzing Zhou, J. q., Zhou, L. m., Fang, Z. y., Wang, Q., Chen, Z. y., Yang, L. b., et al. 2011 . Analyzing clinical and electrophysiological characteristics of Paroxysmal Dyskinesia. Journal of Research in Medical Sciences, 16 1 , 110 114. PMID 21448393 ref and occurs more often in males than females. There are two types of PKD, primary and secondary. Primary PKD can be further broken down into familial and sporadic. Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen. ref name bruno Bruno, M. K., Hallett, M., Gwinn Hardy, K., Sorensen, B., Considine, E., Tucker, S., et al. 2004 . Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria. Neurology, 63 12 , 2280 2287. PMID 15623687 ref Secondary PKD can be caused by many other medical conditions such as Multiple sclerosis multiple sclerosis MS , stroke , pseudohypoparathyroidism , ref Thomas, K. P., Muthugovindan, D., & Singer, H. S. 2010 . Paroxysmal Kinesigenic Dyskinesias and Pseudohypo parathyroidism Type Ib. Pediatric Neurology, 43 1 , 61 64. PMID 20682207 doi 10.1016 j.pediatrneurol ... more details
For other categories, see List of MeSH codes . The following is a list of the C codes for MeSH . It is a product of the United States National Library of Medicine . Source for content is http www.nlm.nih.gov mesh filelist.html here . File 2006 MeSH Trees . MeshNumber C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities congenital, hereditary, and neonatal diseases and abnormalities MeshNumber C16.131 Abnormalities abnormalities MeshNumber C16.131.042 Abnormalities, Drug Induced abnormalities, drug induced MeshNumber C16.131.077 Abnormalities, Multiple abnormalities, multiple MeshNumber C16.131.077.065 Alagille Syndrome alagille syndrome MeshNumber C16.131.077.095 Angelman Syndrome angelman syndrome MeshNumber C16.131.077.112 Bardet Biedl Syndrome bardet biedl syndrome MeshNumber C16.131.077.130 Basal Cell Nevus Syndrome basal cell nevus syndrome MeshNumber C16.131.077.133 Beckwith Wiedemann Syndrome beckwith wiedemann syndrome MeshNumber C16.131.077.137 Bloom Syndrome bloom syndrome MeshNumber C16.131.077.208 Branchio Oto Renal Syndrome Branchio Oto Renal Syndrome branchio oto renal syndrome MeshNumber C16.131.077.250 Cockayne Syndrome cockayne syndrome MeshNumber C16.131.077.262 Cri du Chat Syndrome cri du chat syndrome MeshNumber C16.131.077.272 De Lange Syndrome de lange syndrome MeshNumber C16.131.077.327 Down Syndrome down syndrome MeshNumber C16.131.077.350 Ectodermal Dysplasia ectodermal dysplasia MeshNumber C16.131.077.350.398 Ellis Van Creveld Syndrome ellis van creveld syndrome MeshNumber C16.131.077.350.424 Focal Dermal Hypoplasia focal dermal hypoplasia MeshNumber C16.131.077.350.712 Neurocutaneous Syndromes neurocutaneous syndromes MeshNumber C16.131.077.393 Gardner Syndrome gardner syndrome MeshNumber C16.131.077.410 Holoprosencephaly holoprosencephaly MeshNumber C16.131.077.445 Incontinentia Pigmenti incontinentia pigmenti MeshNumber C16.131.077.509 Laurence Moon Syndrome laurence moon syndrome MeshNumber C16.131.077.525 LEOPARD Syndrom ... more details
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