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 CausalMutation disease CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease GENOMICS_ENGLAND
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 GENOMICS_ENGLAND A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 7550324 1995
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 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 Biomarker disease BEFREE Different genes are implicated in the pathogenesis of HPE; these include SHH, ZIC2, SIX3, TGIF, and human DKK1. 12567406 2003
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease GENOMICS_ENGLAND Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. 12032320 2002
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 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 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 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 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 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 Here, we report the identification of human Sonic Hedgehog (SHH) as HPE3-the first known gene to cause HPE. 8896572 1996
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
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. 11479728 2001
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 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 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 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 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 Biomarker disease BEFREE Mutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases. 21940735 2011