SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE In the present study we performed mutational analysis of the entire coding region of the SHH gene in 37 unrelated individuals with the HPE spectrum. 19398181 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375 2005
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. 19603532 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. 22383895 2012
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE We performed mutational analysis in the four main HPE causing genes (SHH, SIX3, TGIF, and ZIC2) and GLI3, a gene associated with polydactyly as well as fluorescent in situ hybridization (FISH) to search for microdeletions in these genes and two candidate HPE genes (DISP1 and FOXA2). 18178536 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. 20531442 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE We report here that whereas mice lacking the Cdo paralog Boc do not have HPE, Cdo;Boc double mutants on a largely Cdo-resistant genetic background have lobar HPE with strong craniofacial anomalies and defects in Shh target gene expression in the developing forebrain. 21183473 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized by defective prosencephalon development. 19057928 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. 27614115 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Numerous genetic loci and environmental factors are implicated in HPE, but mutation in the sonic hedgehog (Shh) gene is an established cause in both humans and mice. 17525797 2007
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN We demonstrate that two SHH mutations that cause human HPE result in decreased in vivo activity of SHH in the developing nervous system. 12709790 2003
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. 15292211 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Our data indicate that in a subset of patients SCH may develop as one aspect of a more complex malformation of the ventral forebrain, directly result from mutations in the SHH pathway and hence be considered as yet another feature of the broad phenotypic spectrum of holoprosencephaly. 20157829 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE We hypothesize that mutations of a gene in 7q36, designated HPE3, are responsible for both sporadic HPE and a majority of families with autosomal dominant HPE. 8058764 1994
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. 16752381 2006
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function. 16282375 2005
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. 18348270 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized by defective prosencephalon development. 19057928 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively. 10852374 2000
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. 9728329 1998
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease LHGDN Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. 15221788 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE As a step toward identifying one of the HPE genes, we have set out to refine the HPE3 critical region on human chromosome 7q36 by analyzing 34 cell lines from families with cytogenetic abnormalities involving 7q, 24 of which are associated with HPE. 9254845 1997
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. 10556296 1999
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Here we describe a patient with unbalanced 3p;7q translocation, showing 7q deletion (including SHH gene) and 3p duplication (complete karyotype was 46,XY,der(7)t(3;7)(p26.3;q36.1)), presenting with a relatively mild phenotype, consisting of microphthalmia and microcephaly, without cerebral anomalies typical of holoprosencephaly. 18762283 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE We investigated the molecular basis of holoprosencephaly in a sporadic patient and identified a novel missense mutation in the signal sequence of the sonic hedgehog (Shh) gene. 10762164 2000