AutismKB 2.0

Annotation Detail for HSD17B10


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Basic Information Top
Gene Symbol:HSD17B10 ( 17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 10
Band: Xp11.22
Quick LinksEntrez ID:3028; OMIM: 300256; Uniprot ID:HCD2_HUMAN; ENSEMBL ID: ENSG00000072506; HGNC ID: 4800
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
ILEUDEG-PWYisoleucine degradation I
FAO-PWYfatty acid beta-oxidation I
Pathway IDPathway Name
hsa05010Alzheimer's disease
hsa00280Valine, leucine and isoleucine degradation
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Chorioathetosis with mental retardation and abnormal behavior
Mental retardation, X-linked syndromic 10
Mental retardation, X-linked 17/31, microduplication
17-beta-hydroxysteroid dehydrogenase X deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C105260 4-tert-octylphenol 4-tert-octylphenol results in increased expression of HSD17B10 mRNAincreases expression 17011747
D000082 Acetaminophen Acetaminophen affects the expression of HSD17B10 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of HSD17B10 mRNAaffects expression 16483693
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of HSD17B10 mRNAincreases expression 15003993
D016572 Cyclosporine Cyclosporine results in decreased expression of HSD17B10 mRNAdecreases expression 20106945
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of HSD17B10 mRNAincreases expression 17011747
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of HSD17B10 mRNAincreases expression 17108234
C056933 fumonisin B1 fumonisin B1 results in decreased expression of HSD17B10 mRNAdecreases expression 16221962
D009151 Mustard Gas Mustard Gas results in increased expression of HSD17B10 mRNAincreases expression 15674844
C006253 pirinixic acid pirinixic acid results in increased expression of HSD17B10 mRNAincreases expression 11798191
20059764
18467677
16221962
18301758
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of HSD17B10 mRNA]increases expression|increases reaction 18467677
20059764
C045362 prochloraz prochloraz results in decreased expression of HSD17B10 proteindecreases expression 16375936
D011794 Quercetin Quercetin results in increased expression of HSD17B10 mRNAincreases expression 16455785
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HSD17B10 mRNAdecreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
OMIM:300438 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY marker/mechanism
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9614514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.3016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.3016835633
MESH:D000686 Amyloidosis Diethylstilbestrol 4.5715469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.3217084956
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7115885639
MESH:D001249 Asthma Mustard Gas 2.7310378619
MESH:D001260 Ataxia Telangiectasia Quercetin 5.0915336622
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001327 Autoimmune Diseases Quercetin 4.5119761891
MESH:D001768 Blister Mustard Gas 5.2819167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Diethylstilbestrol 1.9417129689 15324884
MESH:D001943 Breast Neoplasms Quercetin 1.9418628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.2815286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1117687719 10378619
MESH:D002105 Cadmium Poisoning Quercetin 5.6816962696
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.713084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 4.7115948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Quercetin 4.7112508355 19519916
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.0617234771
MESH:D006332 Cardiomegaly Quercetin 6.9419794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.9418670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.5812371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 13.7019486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.7016919318 15861022 17681005 17333356 16105132 11677210 17110522
MESH:D002779 Cholestasis pirinixic acid 13.7019176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1315668235 15340226 16354765 8697196 12621046
MESH:D003110 Colonic Neoplasms Quercetin 2.4311134977 17148506 15741050 19056647 19440933 17191121 16640504
MESH:D015179 Colorectal Neoplasms Quercetin 2.1818852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.6512952375 16002989
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.8019496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3716177239 19164858 11421492 15619225 12958197 18713872 19739265 19923254 11287661 12540782 14986274 12594235 11834606 16393943 16081117 10663392 16109766 11739529 11461765 19420014 16227642 10774834 17522070 17562736 19416960 11743745 14725611 14550746 16781746 16485898 10915739 12153990 15968718 2444490 19085960 19370779 17906064 12392966 12705907 11529661 18071297
MESH:D056486 Drug-Induced Liver Injury fumonisin B1 6.3716221962
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004487 Edema Mustard Gas 11.9111402378 9260866 11428647 11428631
MESH:D004487 Edema pirinixic acid 11.9112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 11.9111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0418230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2812538720
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.8116402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.5116804899 15700306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004890 Erythema Mustard Gas 5.289357497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 13.4819224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.4815345470
MESH:D005234 Fatty Liver pirinixic acid 13.4819236843 20131406
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7016513791 15751030 16611131 16002989 16534752
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Cyclosporine 15.4012639820 12168785
MESH:D005355 Fibrosis Quercetin 15.4019474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.4020067830
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.0616452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D005909 Glioblastoma Quercetin 3.4419804834
MESH:D005910 Glioma Quercetin 3.0817643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3710048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly fumonisin B1 15.1216221962
MESH:D006529 Hepatomegaly pirinixic acid 15.1216221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.1215340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006943 Hyperglycemia pirinixic acid 9.5020558911
MESH:D006943 Hyperglycemia Quercetin 9.5011834736 18262572
MESH:D006965 Hyperplasia Diethylstilbestrol 4.5414722030 12960047
MESH:D006973 Hypertension Cyclosporine 8.7510903974
MESH:D006973 Hypertension Quercetin 8.7518356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.7518850075 18670907
MESH:D007021 Hypospadias Diethylstilbestrol 11.6016002989
MESH:D007021 Hypospadias Ethinyl Estradiol 11.6016569931 16945680
MESH:D007246 Infertility Diethylstilbestrol 4.4515036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5417937319
MESH:D007249 Inflammation Mustard Gas 5.189260866 11428647 17524151 11402378 11428620 16001271 8975870 11428631 9357497
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1812200463 12878042
MESH:D007251 Influenza, Human Quercetin 4.6416624496
MESH:D007333 Insulin Resistance pirinixic acid 2.6816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007627 Keloid Quercetin 5.0617086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Acetaminophen 10.3115629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.318314463 10903974 18776723
MESH:D007674 Kidney Diseases Quercetin 10.3116962696
MESH:D007680 Kidney Neoplasms Cyclosporine 7.6812371664
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 7.6815003126 14681315 16762066
MESH:D007859 Learning Disorders Diethylstilbestrol 4.1617184923
MESH:D007938 Leukemia Quercetin 3.1917468513
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4915474484
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 3.4912741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6519460945 16611625 12969438 12587719 19014921 11587558 19784758 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3117185352 16871587
MESH:D008113 Liver Neoplasms Diethylstilbestrol 10.9516712894 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 10.9516377806 20007298 15890375
MESH:D008113 Liver Neoplasms Quercetin 10.9518980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9516984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.0919519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0912151625
MESH:D008171 Lung Diseases Mustard Gas 3.5018702808 18161513
MESH:D008175 Lung Neoplasms Mustard Gas 3.538781369 3148597
MESH:D008175 Lung Neoplasms Quercetin 3.5316280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5311884234 19555203
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.2715166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.5315700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.6516002989
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
OMIM:300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 marker/mechanism
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009203 Myocardial Infarction pirinixic acid 5.8319151258
MESH:D009203 Myocardial Infarction Quercetin 5.8319595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.6516411023
MESH:D015428 Myocardial Reperfusion Injury Quercetin 8.6519207477
MESH:D009369 Neoplasms Diethylstilbestrol 8.5515313581
MESH:D009369 Neoplasms pirinixic acid 8.5517405874
MESH:D009369 Neoplasms Quercetin 8.5515185748
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3619348381 18481113
MESH:D009421 Nervous System Malformations Diethylstilbestrol 9.9611399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.9614600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D020078 Neurogenic Inflammation Quercetin 4.4517929310
MESH:D009503 Neutropenia Mustard Gas 4.0616761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.3119495926
MESH:D010051 Ovarian Neoplasms Quercetin 2.7519005980
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D010190 Pancreatic Neoplasms Quercetin 2.8716965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.3014722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.7715687265 16977796
MESH:D011041 Poisoning Mustard Gas 3.8815727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.3412371664
MESH:D011230 Precancerous Conditions Quercetin 9.3419056647
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 9.9617184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.9611118676 11222880 11896295 11399792
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.5015046698 15846301 17136230
MESH:D011471 Prostatic Neoplasms Quercetin 3.5017292933 14715546
MESH:D011537 Pruritus Ethinyl Estradiol 9.9215861022 16919318
MESH:D011537 Pruritus Mustard Gas 9.9218058305
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9517266442 17720292 17894541 17620002 10334151
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012554 Schistosomiasis japonica Quercetin 5.6816862918
MESH:D012871 Skin Diseases Mustard Gas 2.7315451306 12880345 16961503
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.718532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7116192470
MESH:D013088 Spermatocele Diethylstilbestrol 12.1716709447 16002989
MESH:D013088 Spermatocele Ethinyl Estradiol 12.1716709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 5.4816452187 16712894 17306315
MESH:D001749 Urinary Bladder Neoplasms Quercetin 5.4816720314
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.1116175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.3014652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 9.7915809267 16690809
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 9.7914692618
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.5416513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
KEGG:00280 Valine, leucine and isoleucine degradation
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162391638
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    PA152238066Mental Retardation, X-Linked
    PA145007173Mental Retardation, X-Linked, Nonsyndromic
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00157 - NADH Dietary supplement;Micronutrient
    DB01907 - Nicotinamide-Adenine-Dinucleotide
    DB02820 - 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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