SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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 Three of the remaining families had (likely) pathogenic variants in the JBTS gene C5orf42, and one patient had a novel de novo frameshift variant in SHH known to cause autosomal dominant holoprosencephaly. 29321670 2018
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 Biomarker disease CTD_human Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model. 27585885 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.700 GeneticVariation disease BEFREE Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis. 25218063 2015
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.700 Biomarker disease CTD_human The inhibitors of the NODAL and SHH pathways, even at low concentration, acted synergistically to promote an HPE-like phenotype. 23264560 2013
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.700 Biomarker disease BEFREE Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. 21995818 2012
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 Biomarker disease BEFREE We identified a de novo nucleotide change, c.301-19G > A, in intron 1 of SHH in a four year old boy with a microform of holoprosencephaly. 21044704 2011
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 Biomarker disease BEFREE Mutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases. 21940735 2011
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 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 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 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 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 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 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 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 Biomarker disease BEFREE Here we describe a rare nucleotide variant located 460 kb upstream of SHH in an individual with HPE that resulted in the loss of Shh brain enhancer-2 (SBE2) activity in the hypothalamus of transgenic mouse embryos. 18836447 2008
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 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 Biomarker disease CTD_human 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 Biomarker disease BEFREE We report 22 patients with normal neuropsychological development and a holoprosencephaly-like (HPE-like) phenotype screened for SHH, SIX3, TGIF, and GLI2. 17001669 2006
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 Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations. 17001700 2006