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Monogenic syndromes associated with Hirschsprung disease

Syndrome	Features	Mode of inheritance	Chromosomal locus/gene symbol	Percent of individuals with this disorder who have Hirschsprung disease
Bardet-Biedl syndrome	Retinal dystrophy, obesity, intellectual disability, polydactyly, hypogenitalism, renal abnormalities	AR	At least 11 loci/genes	2 to 10%*
Cartilage-hair hypoplasia	Short-limbed dwarfism, sparse hair, immune defects	AR	9p21-p12/RMRP	7 to 9%
Congenital central hypoventilation syndrome	Hypoxia, reduced ventilatory drive, neuroblastoma	Variable	4p12/PHOX2B 10q11.2/RET 5p13.1-p12/GDNF 20q13.2-q13.3/EDN3 11p13/BDNF	20%
Familial dysautonomia (Riley-Day syndrome)	Sensory and autonomic dysfunction (including abnormal sweat, tear, and saliva production)	AR	9q31/IKBKAP	Unknown
Fryns syndrome	Distal digital hypoplasia, diaphragmatic hernia, CHD, craniofacial, intellectual disability	AR	Unknown	Unknown
Goldberg-Shprintzen syndrome	Craniofacial, microcephaly, intellectual disability, PMG	AR	10q22.1/KIAA1279 Others?	Common
Intestinal neuronal dysplasia	Abnormal intestinal innervation with giant ganglia	Unknown	Unknown	≤20%*
L1 syndrome	Intellectual disability, hydrocephalus, ACC, adducted thumbs	XLR	Xq28/L1CAM	Rare
MEN2A/FMTC	MTC, pheochromocytoma, hyperparathyroidism^¶	AD	10q11.2/RET	≤1%
MEN2B	MTC, pheochromocytoma, mucosal and intestinal neuromas, skeletal abnormalities, corneal changes	AD	10q11.2/RET	Rare
Mowat-Wilson syndrome	Intellectual disability, microcephaly, craniofacial, CHD, ACC, epilepsy, short stature	AD	2q22/ZFHX1B	41 to 71%
Neurofibromatosis 1	Café-au-lait macules, neurofibromas, Lisch nodules	AD	17q11.2/NF1 5p13.1-p12/GDNF?	Unknown
Smith-Lemli-Opitz syndrome	Intellectual disability, hypospadias, 2/3 syndactyly, CHD, craniofacial	AR	11q12-q13/DHCR7	Unknown
Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)	Pigmentary abnormalities, deafness	AR (usually)	13q22/EDNRB 20q13.2-q13.3/EDN3	Common
Waardenburg syndrome type 4 (Waardenburg-Shah syndrome)	Pigmentary abnormalities, deafness	AD	22q13/SOX10	Almost 100%

AR: autosomal recessive; RMRP: RNAse mitochondrial RNA processing gene; PHOX2B: paired-like homeobox 2B gene; RET: RET proto-oncogene; GDNF: glial cell line-derived neurotrophic factor gene; EDN3: endothelin 3 gene; BDNF: brain-derived neurotrophic factor gene; IKBKAP: inhibitor of kappa light polypeptide gene enhancer gene; CHD: congenital heart disease; PMG: polymicrogyria; ACC: agenesis of the corpus callosum; XLR: X-linked recessive; L1CAM: L1 cell adhesion molecule gene; MEN2A: multiple endocrine neoplasia type 2A; FMTC: familial medullary thyroid cancer; MTC: medullary thyroid carcinoma; AD: autosomal dominant; MEN2B: multiple endocrine neoplasia type 2B; ZFHX1B: zinc finger homeobox protein 1b gene; NF1: neurofibromin 1 gene; DHCR7: 7-dehydrocholesterol reductase gene; EDNRB: endothelin receptor type b gene, SOX10: Sry-box 10 gene.
* Limited data are available.
¶ In FMTC, affected individuals do not have pheochromocytoma or hyperparathyroidism.

Parisi, MA (updated December 2006). Hirschsprung Disease Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright © University of Washington, Seattle. 1997-2010. Available at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hirschsprung-ov. Accessed May 31, 2010.

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