Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease

Cohen, Ian T.; Gadd, Michele A.

doi:10.1016/s0022-3468(82)80124-3

Cited by 40 publications

(26 citation statements)

References 6 publications

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“…Numerous other diseases have been reported in addition to Hirschsprung's disease, of which those of the neural crest origin are of special interest. Hirschsprung's disease in association with Waardenburg's syndrome has been reported consistently, probably representing a real association (25)(26)(27)(28)(29). The association of Hirschsprung's disease with other diseases is more doubtful.…”

Section: Present Resultsmentioning

confidence: 99%

An epidemiological study of Hirschsprung's disease and additional anomalies

Russell

Niebuhr

1994

Acta Paediatrica

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The incidence of Hirschsprung's disease was studied in approximately 1.5 million consecutive live births in Denmark by hospital records. A diagnosis of Hirschsprung's disease required a histologic verified absence of ganglion cells in either biopsy or surgical colonic specimens. The incidence of Hirschsprung's disease was found to be 0.140 per 1000 live births (1:7,165) with a male: female ratio of 4.1:1 in short segment, and 2.4:1 in long segment Hirschsprung's disease (p = 0.36). Maternal age and birth order were unimportant factors. The association of Hirschsprung's disease and Down's syndrome was seen in 9 of the 207 patients and may represent a real association, whereas the association with congenital heart defects seen in 2% (not including patients with Down's syndrome) is more doubtful. A mortality of 16% among the patients with Hirschsprung's disease emphasizes the extreme importance of early diagnosis.

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Section: Present Resultsmentioning

confidence: 99%

An epidemiological study of Hirschsprung's disease and additional anomalies

Russell

Niebuhr

1994

Acta Paediatrica

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“…The risk of an inherited familial predisposition is well established (2.4%-9%) [3,4], as well as occurrence in mono-and dizygotic twins [12,10] and a 12% association with chromosomal anomalies. Nevertheless, no clear pattern of inheritance exists [3,15], and autosomal dominant [16,17], recessive [18][19][20], and multigenic patterns [21] have all been reported. Most HSCR cases can thus be classified as complex genetic disorders where familial aggregation is observed without consistent mendelian inheritance [22].…”

Section: Discussionmentioning

confidence: 99%

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling

Moore

Zaahl

2008

Journal of Pediatric Surgery

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“…It is generally accepted that the pattern of associated lesions may throw some light on possible genetic associations of the disease [1,134]. The roles of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) in the pathogenesis of HSCR are well established.…”

Section: Hscr Associations With Tumoursmentioning

confidence: 99%

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

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Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease

Cited by 40 publications

References 6 publications

An epidemiological study of Hirschsprung's disease and additional anomalies

An epidemiological study of Hirschsprung's disease and additional anomalies

A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

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