IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. 30651074 2019
CUI: C0302142
Disease: Deformity
Deformity
0.010 GeneticVariation group BEFREE Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. 30651074 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE Patients with lung squamous cell carcinoma (P=0.037) and adenocarcinoma (P=0.001) with positive Ihh protein expression survived significantly shorter than patients with negative Ihh protein expression. 27801732 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 AlteredExpression disease BEFREE The expression of WIF-1 and Ihh protein in 74 squamous cell carcinomas and 76 adenocarcinomas was measured by immunohistochemistry. 27801732 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.010 GeneticVariation phenotype BEFREE For non-IUGR and IUGR rats, this study design resulted in three diet groups: offspring from dams fed a regular diet and weaned to a regular diet (NRR and IRR), offspring rats from dams fed an HFD and weaned to a regular diet (NHR and IHR) and offspring from dams fed an HFD and weaned to an HFD (NHH and IHH). 29397052 2018
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
0.010 Biomarker disease BEFREE Increased awareness of the typical symptoms of hypercalcemia, such as anorexia, polydipsia, vomiting and failure to thrive, is of utmost importance in diagnosing IHH early and preventing long-term complications such as nephrocalcinosis. 28874334 2018
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.010 AlteredExpression disease BEFREE Patients with lung squamous cell carcinoma (P=0.037) and adenocarcinoma (P=0.001) with positive Ihh protein expression survived significantly shorter than patients with negative Ihh protein expression. 27801732 2018
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE The percentage of positive WIF-1 protein expression was significantly higher, while positive Ihh protein expression was significantly lower in patients with well-differentiated lung squamous cell carcinoma and adenocarcinoma, tumor node metastasis (TNM) stage I disease, and lymph node metastasis than that in patients with poorly differentiated tumor, TNM stage III disease, and lymph node metastasis (P<0.05, <0.01). 27801732 2018
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
0.010 GeneticVariation disease BEFREE Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH. 29155992 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 Biomarker disease BEFREE Even in the absence of <i>Ihh, Gli3</i> deletion was sufficient to induce aberrant precocious ossification across the developing suture, indicating that the craniosynostosis phenotype of <i>Gli3</i><sup><i>Xt</i>-<i>J</i>/<i>Xt</i>-<i>J</i></sup> mice is not dependent on IHH ligand. 29311969 2017
CUI: C0234362
Disease: Synkinesis
Synkinesis
0.010 Biomarker phenotype BEFREE In a clinical sense, recognizing those IHH genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (ANOS1), dental agenesis (FGF8/FGFR1) and hearing loss (CHD7). 29280744 2017
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
0.010 Biomarker disease BEFREE In a clinical sense, recognizing those IHH genes and associated phenotypes may improve our diagnostic capabilities by enabling us to prioritize the screening of particular gene(s) such as synkinesia (ANOS1), dental agenesis (FGF8/FGFR1) and hearing loss (CHD7). 29280744 2017
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE The present investigation examines the capacity of co-cultures between the HCEC colon epithelial cells and the HCT-116 colorectal cancer cells (mimicking the primary site of tumour growth) and between IHH hepatocytes and the HCT-116 colorectal cancer cells (metastatic site) to influence the effects of NAMI-A (imidazolium trans-imidazoledimethylsulphoxidetetrachloro ruthenate) on the tumour cells themselves. 28064102 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease BEFREE Moreover, DKK1 and FRZB negatively correlated with OA grading, while RUNX2 and IHH showed a significantly positive correlation with OA grading. 27428952 2016
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 GeneticVariation group BEFREE A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. 27966732 2016
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome
0.010 GeneticVariation disease BEFREE A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. 27966732 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 AlteredExpression group BEFREE We also analyzed levels of IHH messenger RNA and expression of IHH gene targets in intestinal tissues from patients with familial adenomatous polyposis (n = 18) or sessile serrated adenomas (n = 15) and normal colonic tissue from control patients (n = 12). 25307863 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 AlteredExpression disease BEFREE We also analyzed levels of IHH messenger RNA and expression of IHH gene targets in intestinal tissues from patients with familial adenomatous polyposis (n = 18) or sessile serrated adenomas (n = 15) and normal colonic tissue from control patients (n = 12). 25307863 2015
CUI: C1832590
Disease: Craniosynostosis, Philadelphia Type
Craniosynostosis, Philadelphia Type
0.010 GeneticVariation disease BEFREE We subsequently screened additional genes in the probands with no detected mutation: one duplication of the IHH regulatory region was identified in a patient with craniosynostosis Philadelphia type and five variants, four novel, were identified in the recently described TCF12, in probands with coronal or multisuture affectation. 25271085 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE The tumorigenic cell line HuH7 together with the non-tumorigenic cells IHH and the human pluripotent stem cell derived hepatocytes (hPSC-H), were used as cellular models of HCC and normal liver cells, respectively. 25742740 2015
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.010 AlteredExpression disease BEFREE Moreover, ES samples showed a low IGF2 gene expression (p<0.0001) and high IHH (p<0.0001), PTCH1 (p=0.0173) and GLI1 (p=0.0113) gene expressions. 24846856 2014
CUI: C0033375
Disease: Prolactinoma
Prolactinoma
0.010 GeneticVariation disease BEFREE We report a female with combined pituitary hormone deficiencies (GH, TSH, gonadotropin and ACTH), except for prolactin, as a consequence of PROP1 mutation, and a male with KS (anosmia and IHH) due to Kal 2 gene (fibroblast growth factor receptor 1- FGFR1) mutation, both of whom in adulthood presented with prolactinomas. 22801565 2013
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp
0.010 PosttranslationalModification disease BEFREE IHH promoter methylation was frequently observed in colorectal adenomas (55.2%, p = 0.004) and CRCs (70.6%, p<0.001) compared with that in hyperplastic polyps (11.8%). 20854074 2010
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
0.010 AlteredExpression disease BEFREE These genes, which include Indian hedgehog homolog (IHH), parathyroid-hormone like hormone (PTHLH), insulin-like growth factor-1 (IGF-1), and vascular endothelial growth factor (VEGF), and variations in their levels of expression play an important role in the etiology of Class III malocclusion. 20477965 2010
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
0.010 Biomarker disease BEFREE Our data thus implicate a direct role of IHH in the carcinogenesis of BTC with APBDJ. 19793350 2010