DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and mental retardation. 10814720 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. 23059950 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 AlteredExpression group BEFREE The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene. 19365639 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE The RSH/SLOS phenotypic spectrum is broad; however, typical features include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly, second and third toe syndactaly, genital anomalies, growth failure, and mental retardation. 11001807 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, typical dysmorphic facial features, and variable degrees of developmental delay and intellectual disability (ID). 26969503 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3beta-hydroxysterol-Delta(7)-reductase (DHCR7). 11503168 2001
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE Many developmental malformations attributed to SLOS occur in tissues and organs where Hh signaling is required for development, but the precise role of DHCR7 deficiency in this disease remains murky. 16687448 2006
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. 20635399 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" skeletal dysplasia and the CHILD syndrome. 10439210 1999
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol. 21990131 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 AlteredExpression group BEFREE The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene. 19365639 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome caused by deficiency of 7-dehydrocholesterol reductase catalysing the last step of cholesterol biosynthesis. 17497248 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. 26998835 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder. 26685159 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE The discovery by G. Stephen Tint and his co-workers of the apparent 7-DHC reductase deficiency makes the RSH (Smith-Lemli-Opitz) syndrome the first true metabolic malformation syndrome. 7632194 1994
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM 270400]) is an autosomal recessive multiple malformation syndrome due to a defect in cholesterol biosynthesis. 9634533 1998
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). 18285838 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 GeneticVariation group BEFREE The Smith-Lemli-Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity. 22929031 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 Biomarker group BEFREE These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems. 8989473 1996