HDC, histidine decarboxylase, 3067

N. diseases: 92; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 GeneticVariation disease BEFREE Histamine dysregulation was implicated as a rare cause of Tourette syndrome and other tic disorders a decade ago by a landmark genetic study in a high density family pedigree, which implicated a hypomorphic mutation in the histidine decarboxylase (Hdc) gene as a rare but high penetrance genetic cause. 30714121 2020
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease BEFREE In the current study we investigated if mice lacking the histamine producing enzyme HDC share the morphological and cytological phenotype with GTS patients by using magnetic resonance (MRI) and diffusion tensor imaging (DTI), unbiased stereology and immunohistochemistry. 28681514 2017
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease BEFREE A rare mutation in the enzyme that produces histamine (HA), histidine decarboxylase (HDC), has been identified in patients with Tourette syndrome (TS). 28584117 2017
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 GeneticVariation disease BEFREE In this study, we investigated the role of the histidine decarboxylase gene (HDC) in TS susceptibility in the Chinese Han population. 27529419 2016
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease MGD These data confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology. 24411733 2014
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 GeneticVariation disease BEFREE A rare genetic form of Tourette syndrome due to L-histidine-decarboxylase mutation, with similar features in human and rodent, has inspired new research on functional anatomy of Tourette syndrome. 24978639 2014
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease BEFREE These data confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology. 24411733 2014
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 GeneticVariation disease BEFREE No significant differences in genotypic and allele distribution between patients and controls for these three variants (P = 0.274, P = 1.000 and P = 0.632 for genotypic distribution, respectively; P = 0.143, P = 1.000 and P = 0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population. 22095709 2012
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease BEFREE L-histidine decarboxylase and Tourette's syndrome. 20445167 2010
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease MGD Intrathecally-administered histamine facilitates nociception through tachykinin NK1 and histamine H1 receptors: a study in histidine decarboxylase gene knockout mice. 16212954 2005
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease MGD Mice lacking histidine decarboxylase exhibit abnormal mast cells. 11478947 2001
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 CausalMutation disease CLINVAR
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		0.680 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 Biomarker disease BEFREE Histidine decarboxylase (HDC) deficiency has been shown to promote inflammation-associated colorectal cancer by accumulation of CD11b<sup>+</sup>Gr-1<sup>+</sup> immature myeloid cells, indicating a potential antitumorigenic effect of histamine. 28917668 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.300 Biomarker phenotype CTD_human Discriminating between adaptive and carcinogenic liver hypertrophy in rat studies using logistic ridge regression analysis of toxicogenomic data: The mode of action and predictive models. 28108177 2017
CUI: C0035455
Disease: Rhinitis
Rhinitis 		0.210 GeneticVariation disease BEFREE The HDC allele Glu644 in homozygosity increases the risk of developing rhinitis in the studied population. 20608921 2010
CUI: C0035455
Disease: Rhinitis
Rhinitis 		0.210 Biomarker disease RGD Increase in the level of histidine decarboxylase mRNA expression in nasal mucosa of rats sensitized by toluene diisocyanate. 15054596 2004
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0013528
Disease: Echolalia
Echolalia 		0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.100 Biomarker disease HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C0751900
Disease: Tic, Motor
Tic, Motor 		0.100 Biomarker phenotype HPO
CUI: C0751901
Disease: Tic, Vocal
Tic, Vocal 		0.100 Biomarker phenotype HPO