NDN, necdin, MAGE family member, 4692

N. diseases: 124; N. variants: 2
Disease: Prader-Willi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 GeneticVariation disease BEFREE We report that the human necdin-encoding gene (NDN) is within the centromeric portion of the PWS deletion region, between the two imprinted genes ZNF127 and SNRPN. 9302265 1997
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 GeneticVariation disease BEFREE Necdin deletion is associated with Prader-Willi syndrome. 21150695 2011
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 GeneticVariation disease BEFREE By fluorescence in-situ hybridization analysis, the necdin gene was localized to chromosome 15q11.2-q12 within the Prader-Willi syndrome deletion region. 9630521 1998
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Together, these results indicate that lack of necdin during development likely contributes to the hypogonadotrophic hypogonadal phenotype in individuals with PWS. 18930956 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE The gene for necdin, a MAGE-D1-binding protein, has been described as responsible for Prader-Willi syndrome. 23314527 2013
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Necdin is one of several genes inactivated in children with Prader-Willi syndrome, who are predisposed to increased adiposity at the expense of lean mass. 22305984 2012
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS. 15649943 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Five imprinted, paternally expressed genes map to the PWS region, MKRN3 (ref.3), NDN (ref.4), NDNL1 (ref.5), SNRPN (refs 6-8 ) and IPW (ref. 10802660 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE The gene for necdin was mapped in the PWS candidate region and found to be paternally expressed in mouse and human. 9691003 1998
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS. 19066619 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE In Necdin deficient mice, respiratory defects resembling PWS have been shown in vivo and in vitro. 19712904 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Loss of MAGEL2 and necdin may uncouple LepR from ubiquitination pathways, providing a cellular mechanism for obesity in PWS. 28973533 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease MGD These striking parallels in hypothalamic structure, emotional and cognitive-related behaviors strongly suggest that NECDIN is responsible for at least a subset of the multiple clinical manifestations of PWS. 11115855 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Necdin acts as a cell cycle regulatory protein and plays a key role in the pathogenesis of Prader-Willi syndrome, a neurogenetic disorder. 11891783 2002
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. 24704109 2015
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE However, we demonstrate that the IC, if required for imprinted regulation, is not involved in the spatio-temporal regulation of distantly located retrotransposed genes such as the Ndn gene in the PWS domain. 15634360 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE NDNL2/MAGE-G is a member of a large gene family that includes the X-linked MAGE cluster, MAGED1 (NRAGE), MAGEL2 and NDN, where the latter two genes are implicated in Prader-Willi syndrome. 11782285 2001
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE This can help clarify NDN's role in the PWS phenotype. 28213671 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE It is caused by the absence of expression of the active paternal genes such as the SNRPN, NDN, and possibly others in the PWS critical region on 15q11-13. 19421899 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE NDN is one of several genes inactivated in Prader-Willi syndrome (PWS), a developmental disorder characterized by obesity, hypotonia, and developmental delay. 20665884 2010
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease MGD We propose that necdin deficiency may contribute to observed respiratory abnormalities in individuals with Prader-Willi syndrome through a similar suppression of central respiratory drive. 12629158 2003
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE We report first that Necdin-deficiency in mice induces central respiratory deficits reminiscent of Prader-Willi syndrome (irregular rhythm, frequent apneas, and blunted respiratory regulations), second that Necdin is expressed by medullary serotonergic neurons, and third that Necdin deficiency alters the serotonergic metabolism, the morphology of serotonin vesicles in medullary serotonergic neurons but not the number of these cells. 18272695 2008
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Necdin-deficient mice develop symptoms of PWS, including a sensory and motor deficit. 21912643 2011
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease MGD The human necdin gene in chromosome 15q11-q12 is maternally imprinted, paternally transcribed, and not expressed in Prader-Willi syndrome, a human genomic imprinting-associated neurodevelopmental disorder. 16049186 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.600 Biomarker disease BEFREE Prader-Willi Syndrome (PWS) is a neurodevelopmental disease involving imprinted genes, including NDN, which are only expressed from the paternally inherited allele, with the maternally inherited allele silent. 24039599 2013