., Ed. (1843) "Notices of Some New Works: Dr.H. Johnson on Mental Disorders", The Medical-Chirurgical Review, Vol. 39, p. 460: Hypomania ^ Henry Johnson (1843) On the Arrangement and Nomenclature of Mental Disorders, Longmans, London, OCLC 706786581 ^ Edward Shorter (2005) A Historical Dictionary of Psychiatry, p.132, Oxford University Press, US ISBN 978-0-19803-923-5 External links[edit] Hypomanic Episode – Bipolar Disorder Classification D ICD-10: F30.0 External resources Patient UK: Hypomania v t e Mood disorder History Emil Kraepelin Karl Leonhard John Cade Mogens Schou Frederick K.
Collected Letters in 6 volumes, ed. E. L. Griggs, Clarendon Press: Oxford (1956–1971) Samuel Taylor Coleridge: A Bondage of Opium, Stein and Day: New York: 1974 ISBN 0-8128-1711-7 Biography by Richard Holmes: Coleridge: Early Visions, Viking Penguin: New York, 1990 (republished later by HarperCollins) ISBN 0-375-70540-6; Coleridge: Darker Reflections, HarperCollins: London, 1997 ISBN 0-375-70838-3 v t e Samuel Taylor Coleridge Topics Early life Opium use Albatross metaphor Lake Poets Pantisocracy Coleridge's theory of life Organic form Romantic epistemology Suspension of disbelief Early poetry "The Destruction of the Bastile" "Dura Navis" "Easter Holidays" "Monody on the Death of Chatterton" "On Quitting School" "Pain: Composed in Sickness" "Songs of the Pixies" Plays The Fall of Robespierre Remorse (Osorio) Zapolya Cambridge and Bristol poetry The Destiny of Nations Lines on an Autumnal Evening Lines Written at Shurton Bars On Receiving an Account Ode on the Departing Year Religious Musings To a Young Ass To Fortune To the River Otter Eminent Characters "To Erskine" "To Burke" "To Priestley" "To Fayette" "To Kosciusko" "To Pitt" "To Bowles" "To Mrs Siddons" "To Godwin" "To Southey" "To Sheridan" "To Lord Stanhope" Conversation poems Dejection: An Ode The Eolian Harp Fears in Solitude Frost at Midnight The Nightingale: A Conversation Poem Reflections on Having Left a Place of Retirement This Lime-Tree Bower My Prison To William Wordsworth Late poetry and Lyrical Ballads Christabel "France: An Ode" "Hymn Before Sunrise" Kubla Khan The Rime of the Ancient Mariner Biographical and other works Biographia Literaria The Watchman Notebooks Family Sara Coleridge (daughter) Derwent Coleridge (son) Hartley Coleridge (son) Christabel Rose Coleridge (granddaughter) Ernest Hartley Coleridge (grandson) Herbert Coleridge (grandson) James Coleridge (brother) Henry Nelson Coleridge (nephew and son-in-law)
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A number sign (#) is used with this entry because of evidence that capillary malformation-arteriovenous malformation-1 (CMAVM1) is caused by heterozygous mutation in the RASA1 gene (139150) on chromosome 5q14. Description Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017).
Klippel-Trenaunay syndrome (KTS) is a syndrome that affects the development of blood vessels, soft tissues, and bones. This syndrome has three characteristic features: a red birthmark called a port-wine stain, overgrowth of soft tissues and bones, and vein malformations such as varicose veins or malformations of deep veins in the limbs. The overgrowth of bones and soft tissues usually begins in infancy and is most often only affects one leg. However, it can also affect the arms or sometimes the upper body area (torso). The overgrowth can cause pain, a feeling of heaviness, and make the affected leg (or arm) hard to move.
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color.
Clinical Features The features of Klippel-Trenaunay-Weber syndrome are large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disorder clinically resembles Sturge-Weber syndrome (185300), and indeed the 2 have been associated in some cases (Harper, 1971). Lindenauer (1965) described a brother and sister with Klippel-Trenaunay syndrome. Both patients had varicosity, hypertrophy, and hemangioma, but no arteriovenous fistula. Lindenauer (1965) suggested that patients who also have arteriovenous fistula have a different disorder that might be called Parkes Weber syndrome, since Weber (1907) described cases of this type as well as cases seemingly identical to those of Klippel and Trenaunay (1900).
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. Epidemiology Prevalence is unknown but around 1,000 cases have been reported in the literature so far. Clinical description The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy (LLD) may vary from a slight difference to 10 cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The LLD may become apparent during infancy, childhood or adolescence and is clearly visible by comparison of the level of the gluteal and posterior knee folds.
(eds.). Neuroblastoma. Amsterdam: Elsevier. pp. 33–9. ISBN 978-0-444-50222-3 . ^ Menegaux F, Olshan AF, Neglia JP, Pollock BH, Bondy ML (May 2004). ... PMID 26417712. ^ Robbins and Cotran pathologic basis of disease (9 ed.). ... In Pizzo PA, Poplack DG (eds.). Principles and Practice of Pediatric Oncology (6th ed.). pp. 886–922. ... In Cheung NV, Cohn SL (eds.). Neuroblastoma. Springer. pp. 63–85. ISBN 978-3-540-26616-7 . ^ Beckwith JB, Perrin EV (December 1963).
Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). In most cases, it has spread by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). Mapping Maris et al. (2008) provided evidence for 1 or more candidate neuroblastoma susceptibility genes on chromosome 6p22. Among 1,032 neuroblastoma patients and 2,043 controls of European descent, the authors observed an association between disease and 3 SNPs on chromosome 6p22: rs6939340, rs4712653, and rs9295536, yielding p values of 1.71 x 10(-9) to 7.01 x 10(-10) (allelic odds ratio of 1.39 to 1.40). The findings suggested that common genetic variants may predispose to increased risk for neuroblastic malignant transformation. In a genomewide analysis of 397 patients with high-risk aggressive neuroblastoma derived from the 1,032 patients in the study of Maris et al. (2008) and 2,043 controls, Capasso et al. (2009) confirmed the association of the 3 SNPs at 6p22 identified by Maris et al. (2008) as being more significantly associated with a high-risk subtype of neuroblastoma.
A number sign (#) is used with this entry because susceptibility to neuroblastoma-3 (NBLST3) is conferred by germline or somatic mutations in the ALK gene (105590) on chromosome 2p23. For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). Molecular Genetics Mosse et al. (2008) identified 3 separate germline missense mutations in the tyrosine kinase domain of the ALK gene that segregated with the disease in 8 separate families with neuroblastoma. There was incomplete penetrance. Resequencing in 194 high-risk neuroblastoma the samples showed somatically acquired mutations in the tyrosine kinase domain in 12.4% of samples. Nine of the 10 mutations mapped to critical regions of the kinase domain and were predicted with high probability to be oncogenic drivers.
A number sign (#) is used with this entry because of evidence that susceptibility to neuroblastoma-1 (NBLST1) is conferred by germline and somatic mutations in the KIF1B gene (605995) on chromosome 1p36. Description Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue.
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). Mapping In a genomewide analysis of 397 patients with high-risk aggressive neuroblastoma derived from the 1,032 patients in a study by Maris et al. (2008) and 2,043 controls, Capasso et al. (2009) found a significant association with 6 SNPs at chromosome 2q35 within the BARD1 locus (601593) (p = 2.35 x 10(-9) to 2.25 x 10(-8)). The associations were confirmed in a second series of 189 high-risk cases and 1,178 controls (p = 7.90 x 10(-7) to 2.77 x 10(-4)). Testing of the 2 most significant SNPs (rs6435862 and rs3768716) in 2 additional independent high-risk neuroblastoma case series yielded a combined allelic odds ratio of 1.68 for each SNP (p = 8.65 x 10(-18) and 2.74 x 10(-16), respectively). These data suggested that common variation in the BARD1 gene may contribute to the etiology of aggressive human neuroblastoma.
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. Epidemiology It represents about 10% of solid tumors in infants and children under the age of 15, with an annual incidence of about 1/70,000 in children in this class of age. Clinical description In 90% of cases the neuroblastoma is diagnosed before the age of five. The clinical presentation of neuroblastoma is very variable and depends on the stage and location of the tumor, which can develop at any site in the sympathetic nervous system (around 80% of cases develop in the abdomen). Localized forms are discovered fortuitously or are revealed by the presence of an abdominal or thoracic mass that can be associated with pain.
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). Mapping To identify genetic risk factors for neuroblastoma, Wang et al. (2011) performed a genomewide association study on 2,251 patients and 6,097 control subjects of European ancestry from 4 case series. Wang et al. (2011) reported a significant association with LMO1 (186921) at 11p15.4 (rs110419, combined p = 5.2 x 10(-16), odds ratio (OR) risk allele = 1.34, 95% CI 1.25-1.44). The signal was enriched in the subset of patients with the most aggressive form of the disease. LMO1 encodes a cysteine-rich transcriptional regulator, and its paralogs LMO2 (180385), LMO3 (180386), and LMO4 (603129) have each been implicated in cancer.
A number sign (#) is used with this entry because susceptibility to neuroblastoma-2 (NBLST2) is conferred by germline mutations in the PHOX2B gene (603851) on chromosome 4p13. For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). See also congenital central hypoventilation syndrome (CCHS; 209880), which is also caused by mutation in the PHOX2B gene. Patients with CCHS have a high predisposing risk of developing a tumor of the sympathetic nervous system, as indicated by a 5 to 10% occurrence of neuroblastoma, ganglioneuroblastoma, and ganglioneuroma (Rohrer et al., 2002; Amiel et al., 2003). Clinical Features Trochet et al. (2004) reported a family with neuroblastoma.
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700). Mapping Diskin et al. (2009) described the identification of a common copy number variation (CNV) at chromosome 1q21.1 associated with neuroblastoma in a discovery set of 846 Caucasian patients with neuroblastoma and 803 controls. The findings were confirmed in 2 independent replication sets comprising 595 cases and 3,357 controls. They first observed a hemizygous approximately 300-kb deletion at 1q21.1 that occurred in 15.6% of cases but in only 9.1% of controls. The difference in hemizygous deletion frequency was significant at p = 1.83 x 10(-19).
A number sign (#) is used with this entry because X-linked combined immunodeficiency (CIDX) is caused by mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG; 308380). X-linked severe combined immunodeficiency (SCIDX1; 300400) is caused by mutation in the same gene. Clinical Features Brooks et al. (1990) described a family in which 5 living males had a form of combined immunodeficiency inherited in an X-linked recessive pattern. The disorder was different from the previously described forms of X-linked immunodeficiency and specifically different from SCIDX1. The age of the 5 affected males ranged from 2.5 to 34 years. The most prominent clinical abnormalities were paucity of lymphoid tissue; recurrent sinusitis, otitis media, bronchitis, and pneumonia; severe varicella; and chronic papillomavirus infections.
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy. Frequency X-linked SCID is the most common form of severe combined immunodeficiency.
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. Epidemiology It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The annual incidence varies among the populations but it is estimated at approximately 1/200,000 births. The disease occurs in males. Clinical description SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections (e.g. Pneumocystis jiroveci pneumonitis, disseminated BCG infection if previously vaccinated), and failure to thrive.
Summary Clinical characteristics. X-linked severe combined immunodeficiency (X-SCID) is a combined cellular and humoral immunodeficiency caused by a hemizygous pathogenic variant in IL2RG. In typical X-SCID lack of IL2RG function results in near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes. X-SCID is almost universally fatal in the first two years of life unless reconstitution of the immune system is achieved through bone marrow transplant or gene therapy. In the absence of family history of X-SCID and prior to newborn screening for X-SCID, most males with typical X-SCID come to medical attention between ages three and six months with failure to thrive, oral/diaper candidiasis, absent tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. Additional common features include rashes, diarrhea, cough and congestion, fevers, pneumonia, sepsis, and other severe bacterial infections.
X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.
A number sign (#) is used with this entry because T-, B+, NK- X-linked severe combined immunodeficiency (SCID) is caused by mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG; 308380). See also X-linked combined immunodeficiency (312863), a less severe form of the disorder that is also caused by mutation in the IL2RG gene. An autosomal recessive form of T-, B+, NK- SCID (600802) is caused by mutation in the JAK3 gene (600173) on chromosome 19p13. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. Clinical Features Severe combined immunodeficiency differs from the Bruton type (300755) of agammaglobulinemia by the additional presence of lymphocytopenia ('alymphocytosis'), earlier age at death, vulnerability to viral and fungal as well as bacterial infections, lack of delayed hypersensitivity, atrophy of the thymus, and lack of benefit from gamma globulin administration.
Spinocerebellar degenerations : the ataxias and spastic paraplegias (1st ed.). ... Understanding voice problems : a physiological perspective for diagnosis and treatment (Fourth ed.).
The pediatric emergency medicine resource (Rev. 4. ed.). Sudbury, Mass.: Jones & Bartlett. p. 69. ... Atlas of immunology (3rd ed.). Boca Raton, FL: CRC Press/Taylor & Francis. p. 411. ... Patterson's Allergic Diseases (7 ed.). ISBN 9781451148633 . Archived from the original on 2015-06-20. ^ Koplin, JJ; Martin, PE; Allen, KJ (October 2011).
Bennett and Elliott's physiology and medicine of diving (5th Rev ed.). ... Fundamentals Of Aerospace Medicine: Translating Research Into Clinical Applications (3rd Rev ed.).
Handbook of developmental disabilities (Pbk. ed.). New York: Guilford. p. 113. ... Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780.
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome.
Hypogonadotropic hypogonadism Other names Secondary hypogonadism Hypogonadotropic hypogonadism (HH), is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis (HPG axis).[1] Hypothalamic disorders result from a deficiency in the release of gonadotropic releasing hormone (GnRH), while pituitary gland disorders are due to a deficiency in the release of gonadotropins from the anterior pituitary.[1] GnRH is the central regulator in reproductive function and sexual development via the HPG axis. GnRH is released by hypothalamic neuroendocrine cells into the hypophyseal portal system acting on gonadotrophs in the anterior pituitary. [1] The release of gonadotropins, LH and FSH, act on the gonads for the development and maintenance of proper adult reproductive physiology. LH acts on Leydig cells in the male testes and theca cells in the female. FSH acts on Sertoli cells in the male and follicular cells in the female. Combined this causes the secretion of gonadal sex steroids and the initiation of folliculogenesis and spermatogenesis.
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed. Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty.
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-2 (HSCR2) is conferred by variation in the gene encoding the endothelin-B receptor (EDNRB; 131244) on chromosome 13q22. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-3 (HSCR3) is associated with variation in the GDNF gene (600837) on chromosome 5p13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease (HSCR4) is associated with variation in the EDN3 gene (131242) on chromosome 20q13. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease-1 (HSCR1) is associated with variation in the RET gene (164761) on chromosome 10q11. Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32.
Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth.
Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623.
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. Epidemiology HSCR has an estimated annual incidence of 1/5,000 births. Short segment HSCR is more frequent in males. Clinical description HSCR generally manifests shortly after birth with symptoms of lower intestinal obstruction such as failure to pass meconium within the first 48 hours of life, abdominal pain, constipation, progressive abdominal distention, vomiting, and occasionally diarrhea. Rarely, it presents later in childhood with symptoms of severe constipation and failure to thrive. HSCR can also be associated with additional anomalies such as sensorineural hearing loss (neurologic Waardenburg-Shah syndrome), limb anomalies (Bardet-Biedl syndrome), intellectual deficit (Mowat-Wilson syndrome), central alveolar hypoventilation (Haddad syndrome), or medullary thyroid carcinoma (multiple endocrine neoplasia syndrome type 2B).
