ANDROGEN SIGNALING PATHWAY (PW:0000564)
Description
The androgen signaling pathway plays important roles in the development and maintenance of male phenotype and reproductive functions and in a range of other processes in nonreproductive tissues. Testosterone, the main androgen, is primarily synthesized in the testes; others are synthesized in the adrenal gland and can be converted to testosterone in peripheral tissues. In some of the target cells, testosterone can be converted to its very potent metabolite dehydrotestosterone (DHT). Like all steroid hormones, androgens are derived from cholesterol; their biosynthesis is tightly regulated by the hypothalamus-pituitary-gonadal axis. Testosterone or DHT bind to the androgen receptor to initiate the androgen signaling pathway. The receptor is a member of the nuclear receptor superfamily of ligand activated transcription factors. It is composed of several functional domains: the N-terminal regulatory domain (NTD) containing glutamine (CAG) and glycine repeats, the DNA binding domain (DBD), a hinge region and the ligand binding domain (LBD). In the absence of the ligand the receptor is localized in the cytoplasm and complexed with heat shock proteins. The interactions appear to involve the LBD domain of the receptor and the role of the chaperones is to maintain the receptor into a partially unfolded but ligand primed state. Several such chaperones are believed to constitute a minimal heterocomplex for all steroid hormone receptors, known as the 'foldosome'. The formation of the foldosome is thought to proceed in an assembly-line fashion. Upon ligand binding, the complex translocates to the nucleus where the receptor dissociates from the chaperones. The DBD contains two zinc-fingers of which one appears to mediate recognition of androgen-response elements (ARE) while the second stabilizes the DNA-bound receptor and facilitates dimerization. The receptor binds to the direct-repeat response elements as head-to-head dimer. A wide array of coregulators interacts with the receptor to modulate its transcriptional activity; the NTD domain is a major site of interaction. There are over 130 potential coregulators acting as coactivators or corepressors that belong to several distinct functional classes - chromatin remodeling, histone and various protein modification types, cell cycle and DNA repair, general and specific transcription factors, structural proteins and others. Various methods have led to their identification but for many further experiments are necessary to ascertain a bona fide androgen receptor coregulator function. Important issues to elucidate are: how the receptor accommodates such an array of interactions, how these interactions integrate into the tapestry of androgen signaling pathway. Up-regulation of the pathway has been observed in prostate cancer; it is mostly due to amplification of the receptor or acquired mutations that render the receptor promiscuous and responsive to a variety of molecules. In addition, changes in testosterone, DHT and/or coactivators levels have also been proposed to play a role in the enhanced androgen signaling activity associated with the disease.
To see the ontology report for annotations, GViewer and downloads, click here [click to see the ontology report for related GO term -
GO:0030521 ]
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Pathway Diagram:
Genes in Pathway:
G
Ar
androgen receptor
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Carm1
coactivator-associated arginine methyltransferase 1
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
G
Crebbp
CREB binding protein
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
G
Dnaja2
DnaJ heat shock protein family (Hsp40) member A2
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901
G
Ep300
E1A binding protein p300
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
G
Hsp90ab1
heat shock protein 90 alpha family class B member 1
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
G
Hspa8
heat shock protein family A (Hsp70) member 8
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
G
Ncoa1
nuclear receptor coactivator 1
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
G
Ncoa2
nuclear receptor coactivator 2
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
G
Ncoa3
nuclear receptor coactivator 3
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594
G
Ncor1
nuclear receptor co-repressor 1
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
G
Ncor2
nuclear receptor co-repressor 2
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
G
Pias2
protein inhibitor of activated STAT, 2
IMP
RGD
PMID:9920921
RGD:70792
NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033
G
Prmt1
protein arginine methyltransferase 1
ISO
RGD
PMID:17163421
RGD:2326123
NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
G
St13
ST13, Hsp70 interacting protein
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr 7:112,891,007...112,925,727
Ensembl chr 7:112,844,375...112,925,945
G
Stip1
stress-induced phosphoprotein 1
ISO
RGD
PMID:16356826
RGD:2326084
NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476
G
Ar
androgen receptor
ISO
RGD
PMID:18008377 PMID:23759327
RGD:2326139 , RGD:8693397
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
G
Ncoa2
nuclear receptor coactivator 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
G
Ncor2
nuclear receptor co-repressor 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
Pathway Gene Annotations
Disease Annotations Associated with Genes in the androgen signaling pathway
Ar 46,XY sex reversal , acute kidney failure , alopecia , androgen insensitivity syndrome , Androgen Insensitivity Syndrome due to Coactivator Deficiency , aromatase excess syndrome , attention deficit hyperactivity disorder , autistic disorder , Breast Neoplasms , castration-resistant prostate carcinoma , conduct disorder , coronary artery disease , cryptorchidism , Denys-Drash syndrome , ductal carcinoma in situ , endometrial cancer , endometriosis , Experimental Diabetes Mellitus , Experimental Mammary Neoplasms , Fabry disease , Familial Prostate Cancer , Female Infertility , genetic disease , gestational diabetes , hepatocellular carcinoma , hypertension , hypospadias , Hypospadias 1, X-Linked , Insulin Resistance , invasive ductal carcinoma , Kennedy's disease , Knee Osteoarthritis , leiomyoma , leukemia , Lubs Syndrome , Lung Neoplasms , Male Breast Neoplasms , male infertility , male reproductive system disease , malignant astrocytoma , Mayer-Rokitansky-Kuster-Hauser syndrome , multicentric Castleman disease , Neoplasm Recurrence, Local , obesity , oppositional defiant disorder , osteoporosis , Osteoporotic Fractures , ovarian cancer , partial androgen insensitivity syndrome , polycystic ovary syndrome , Postmenopausal Osteoporosis , prostate adenocarcinoma , prostate cancer , Prostate Cancer, Somatic , prostate carcinoma in situ , prostatic hypertrophy , Prostatic Neoplasms , Sarcopenia , spermatogenic failure 3 , spinal muscular atrophy , syndromic X-linked intellectual disability Lubs type , type 2 diabetes mellitus Carm1 alpha-mannosidosis , asthma , Charcot-Marie-Tooth disease dominant intermediate B , episodic ataxia type 2 , estrogen-receptor positive breast cancer , familial hypercholesterolemia , genetic disease , glutaric acidemia I , hepatocellular adenoma , hepatocellular carcinoma , prostate carcinoma in situ , Prostatic Neoplasms , psoriasis Crebbp acute lymphoblastic leukemia , acute myeloid leukemia , adenoid cystic carcinoma , Agenesis of Corpus Callosum , alcohol use disorder , Alzheimer's disease , amyotrophic lateral sclerosis type 1 , atrial heart septal defect , Au-Kline Syndrome , autism spectrum disorder , cardiac amyloidosis , Colorectal Neoplasms , Developmental Disabilities , diffuse large B-cell lymphoma , epilepsy , esophagus squamous cell carcinoma , Familial Amyloid Polyneuropathies , follicular lymphoma , gastric adenocarcinoma , genetic disease , glaucoma , glioblastoma , head and neck squamous cell carcinoma , hepatocellular carcinoma , Hirschsprung Disease 1 , Hirschsprung's disease , Huntington's disease , idiopathic generalized epilepsy , intellectual disability , Kohlschutter-Tonz syndrome , lung adenocarcinoma , Lung Reperfusion Injury , lung small cell carcinoma , lung squamous cell carcinoma , Marfanoid Mental Retardation Syndrome, Autosomal , medulloblastoma , melanoma , Menke-Hennekam Syndrome , Menke-Hennekam Syndrome 1 , multiple myeloma , myelodysplastic syndrome , Myocardial Reperfusion Injury , Nervous System Malformations , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES , Neurodevelopmental Disorders , pre-eclampsia , Prostatic Neoplasms , Rubinstein-Taybi syndrome , scoliosis , Sezary's disease , short-rib thoracic dysplasia 9 with or without polydactyly , skin melanoma , squamous cell carcinoma , teratoma , Thumb Deformity , transitional cell carcinoma , transthyretin amyloidosis , urinary bladder cancer , Uterine Cervical Neoplasms Dnaja2 genetic disease , glycogen storage disease IXB , liver disease Ep300 adenoid cystic carcinoma , adenylosuccinase lyase deficiency , Agenesis of Corpus Callosum , alcohol use disorder , Alzheimer's disease , autosomal dominant cerebellar ataxia , Brain Hypoxia , breast carcinoma , Breast Neoplasms , cardiac arrest , Cardiomegaly , cardiomyopathy , CHARGE syndrome , clear cell renal cell carcinoma , colon carcinoma , colorectal cancer , colorectal carcinoma , Colorectal Neoplasms , common variable immunodeficiency 4 , congenital diaphragmatic hernia , congestive heart failure , Craniofacial Abnormalities , developmental and epileptic encephalopathy 18 , Diabetic Nephropathies , diabetic retinopathy , Dwarfism , Endometrial Neoplasms , Endotoxemia , esophageal carcinoma , esophagus squamous cell carcinoma , Experimental Diabetes Mellitus , genetic disease , glomerulonephritis , head and neck squamous cell carcinoma , heart disease , hepatoblastoma , hepatocellular carcinoma , hereditary breast ovarian cancer syndrome , Hittner Hirsch Kreh Syndrome , Huntington's disease , Hyperalgesia , hypertension , intellectual disability , interstitial lung disease 2 , Kidney Reperfusion Injury , lung adenocarcinoma , lung small cell carcinoma , lung squamous cell carcinoma , medulloblastoma , melanoma , membranoproliferative glomerulonephritis , Menke-Hennekam Syndrome 2 , microcephaly , Multicystic Dysplastic Kidney , Multiple Abnormalities , nephronophthisis-like nephropathy 1 , Nervous System Lead Poisoning , Neurodevelopmental Disorders , obesity , Optic Nerve Injuries , Painful Neuropathy , prostate cancer , Reperfusion Injury , Rubinstein-Taybi syndrome , Sepsis , Spinocerebellar Ataxias , squamous cell carcinoma , Stevens-Johnson syndrome , systemic lupus erythematosus , T-cell non-Hodgkin lymphoma , Thumb Deformity , transient cerebral ischemia , transitional cell carcinoma , type 2 diabetes mellitus , urinary bladder cancer , Uterine Cervical Neoplasms Hsp90aa1 Alzheimer's disease , anaplastic large cell lymphoma , Breast Neoplasms , Charcot-Marie-Tooth disease axonal type 2O , Cognitive Dysfunction , colon cancer , contact dermatitis , Ductal Carcinoma , Experimental Diabetes Mellitus , Frontotemporal Lobar Degeneration , genetic disease , human immunodeficiency virus infectious disease , intrahepatic cholangiocarcinoma , Knee Osteoarthritis , Neoplasm Metastasis , Neurodevelopmental Disorders , portal hypertension , rheumatoid arthritis Hsp90ab1 Female Infertility , genetic disease , human immunodeficiency virus infectious disease , intrahepatic cholangiocarcinoma , multiple sclerosis , muscular atrophy , pancreatitis , Prostatic Neoplasms , pulmonary fibrosis , Spinal Cord Injuries Hspa8 Acute Coronary Syndrome , acute kidney failure , Acute Liver Failure , adenocarcinoma , brain ischemia , cervical cancer , Chemical and Drug Induced Liver Injury , Chromosome 11, Partial Trisomy 11q , colorectal cancer , Diabetic Nephropathies , disease of metabolism , Dwarfism , genetic disease , graft-versus-host disease , Huntington's disease , hypertension , inflammatory bowel disease , Kidney Reperfusion Injury , macular degeneration , Mouth Neoplasms , multiple sclerosis , Ocular Paraneoplastic Syndromes , pancreatic ductal adenocarcinoma , Parkinson's disease , relapsing-remitting multiple sclerosis , renal hypertension , Reperfusion Injury , schizophrenia , spinocerebellar ataxia type 17 , squamous cell carcinoma , Stomach Neoplasms , transient cerebral ischemia Ncoa1 breast carcinoma , Breast Neoplasms , endometrial carcinoma , endometriosis , Experimental Mammary Neoplasms , genetic disease , hypothyroidism , Neoplasm Metastasis , obesity , prostate cancer , Prostatic Neoplasms , Tatton-Brown-Rahman syndrome , thyroid hormone resistance syndrome Ncoa2 acute myeloid leukemia , Breast Neoplasms , Chronobiology Disorders , colorectal adenocarcinoma , colorectal carcinoma , genetic disease , hepatocellular carcinoma , lung non-small cell carcinoma , malignant pleural mesothelioma , polycystic ovary syndrome , Pregnancy Complications , prostate adenocarcinoma , prostate cancer , Prostatic Neoplasms , stomach cancer Ncoa3 adenocarcinoma , Bone Neoplasms , breast cancer , breast carcinoma , Breast Neoplasms , focal epilepsy , genetic disease , leukemia , lung non-small cell carcinoma , malignant astrocytoma , obesity , prostate cancer , Prostatic Neoplasms , sensorineural hearing loss , squamous cell carcinoma Ncor1 Acute-Phase Reaction , anxiety disorder , autistic disorder , Breast Cancer, Familial , Breast Neoplasms , Developmental Disabilities , endometriosis , genetic disease , glioblastoma , Huntington's disease , hypothyroidism , Liver Neoplasms , mitochondrial complex III deficiency nuclear type 1 , mitochondrial complex III deficiency nuclear type 2 , Neonatal Hyperbilirubinemia , polycystic ovary syndrome , Prostatic Neoplasms , transitional cell carcinoma , urinary bladder cancer Ncor2 breast cancer , endometrial carcinoma , Experimental Liver Cirrhosis , genetic disease , multiple myeloma , myelofibrosis , osteoarthritis , Prostatic Neoplasms Pias2 genetic disease , intellectual disability , Microcephaly, Epilepsy, and Diabetes Syndrome , Vici syndrome Prmt1 asthma , cleft palate , developmental and epileptic encephalopathy 12 , Diabetic Nephropathies , genetic disease St13 adenylosuccinase lyase deficiency , genetic disease , Rubinstein-Taybi syndrome Stip1 Colorectal Neoplasms , genetic disease , high grade glioma , intellectual disability , leukocyte adhesion deficiency 3 , melanoma
46,XY sex reversal Ar Acute Coronary Syndrome Hspa8 acute kidney failure Ar , Hspa8 Acute Liver Failure Hspa8 acute lymphoblastic leukemia Crebbp acute myeloid leukemia Crebbp , Ncoa2 Acute-Phase Reaction Ncor1 adenocarcinoma Hspa8 , Ncoa3 adenoid cystic carcinoma Crebbp , Ep300 adenylosuccinase lyase deficiency Ep300 , St13 Agenesis of Corpus Callosum Crebbp , Ep300 alcohol use disorder Crebbp , Ep300 alopecia Ar alpha-mannosidosis Carm1 Alzheimer's disease Crebbp , Ep300 , Hsp90aa1 amyotrophic lateral sclerosis type 1 Crebbp anaplastic large cell lymphoma Hsp90aa1 androgen insensitivity syndrome Ar Androgen Insensitivity Syndrome due to Coactivator Deficiency Ar anxiety disorder Ncor1 aromatase excess syndrome Ar asthma Carm1 , Prmt1 atrial heart septal defect Crebbp attention deficit hyperactivity disorder Ar Au-Kline Syndrome Crebbp autism spectrum disorder Crebbp autistic disorder Ar , Ncor1 autosomal dominant cerebellar ataxia Ep300 Bone Neoplasms Ncoa3 Brain Hypoxia Ep300 brain ischemia Hspa8 breast cancer Ncoa3 , Ncor2 Breast Cancer, Familial Ncor1 breast carcinoma Ep300 , Ncoa1 , Ncoa3 Breast Neoplasms Ar , Ep300 , Hsp90aa1 , Ncoa1 , Ncoa2 , Ncoa3 , Ncor1 cardiac amyloidosis Crebbp cardiac arrest Ep300 Cardiomegaly Ep300 cardiomyopathy Ep300 castration-resistant prostate carcinoma Ar cervical cancer Hspa8 Charcot-Marie-Tooth disease axonal type 2O Hsp90aa1 Charcot-Marie-Tooth disease dominant intermediate B Carm1 CHARGE syndrome Ep300 Chemical and Drug Induced Liver Injury Hspa8 Chromosome 11, Partial Trisomy 11q Hspa8 Chronobiology Disorders Ncoa2 clear cell renal cell carcinoma Ep300 cleft palate Prmt1 Cognitive Dysfunction Hsp90aa1 colon cancer Hsp90aa1 colon carcinoma Ep300 colorectal adenocarcinoma Ncoa2 colorectal cancer Ep300 , Hspa8 colorectal carcinoma Ep300 , Ncoa2 Colorectal Neoplasms Crebbp , Ep300 , Stip1 common variable immunodeficiency 4 Ep300 conduct disorder Ar congenital diaphragmatic hernia Ep300 congestive heart failure Ep300 contact dermatitis Hsp90aa1 coronary artery disease Ar Craniofacial Abnormalities Ep300 cryptorchidism Ar Denys-Drash syndrome Ar developmental and epileptic encephalopathy 12 Prmt1 developmental and epileptic encephalopathy 18 Ep300 Developmental Disabilities Crebbp , Ncor1 Diabetic Nephropathies Ep300 , Hspa8 , Prmt1 diabetic retinopathy Ep300 diffuse large B-cell lymphoma Crebbp disease of metabolism Hspa8 Ductal Carcinoma Hsp90aa1 ductal carcinoma in situ Ar Dwarfism Ep300 , Hspa8 endometrial cancer Ar endometrial carcinoma Ncoa1 , Ncor2 Endometrial Neoplasms Ep300 endometriosis Ar , Ncoa1 , Ncor1 Endotoxemia Ep300 epilepsy Crebbp episodic ataxia type 2 Carm1 esophageal carcinoma Ep300 esophagus squamous cell carcinoma Crebbp , Ep300 estrogen-receptor positive breast cancer Carm1 Experimental Diabetes Mellitus Ar , Ep300 , Hsp90aa1 Experimental Liver Cirrhosis Ncor2 Experimental Mammary Neoplasms Ar , Ncoa1 Fabry disease Ar Familial Amyloid Polyneuropathies Crebbp familial hypercholesterolemia Carm1 Familial Prostate Cancer Ar Female Infertility Ar , Hsp90ab1 focal epilepsy Ncoa3 follicular lymphoma Crebbp Frontotemporal Lobar Degeneration Hsp90aa1 gastric adenocarcinoma Crebbp genetic disease Ar , Carm1 , Crebbp , Dnaja2 , Ep300 , Hsp90aa1 , Hsp90ab1 , Hspa8 , Ncoa1 , Ncoa2 , Ncoa3 , Ncor1 , Ncor2 , Pias2 , Prmt1 , St13 , Stip1 gestational diabetes Ar glaucoma Crebbp glioblastoma Crebbp , Ncor1 glomerulonephritis Ep300 glutaric acidemia I Carm1 glycogen storage disease IXB Dnaja2 graft-versus-host disease Hspa8 head and neck squamous cell carcinoma Crebbp , Ep300 heart disease Ep300 hepatoblastoma Ep300 hepatocellular adenoma Carm1 hepatocellular carcinoma Ar , Carm1 , Crebbp , Ep300 , Ncoa2 hereditary breast ovarian cancer syndrome Ep300 high grade glioma Stip1 Hirschsprung Disease 1 Crebbp Hirschsprung's disease Crebbp Hittner Hirsch Kreh Syndrome Ep300 human immunodeficiency virus infectious disease Hsp90aa1 , Hsp90ab1 Huntington's disease Crebbp , Ep300 , Hspa8 , Ncor1 Hyperalgesia Ep300 hypertension Ar , Ep300 , Hspa8 hypospadias Ar Hypospadias 1, X-Linked Ar hypothyroidism Ncoa1 , Ncor1 idiopathic generalized epilepsy Crebbp inflammatory bowel disease Hspa8 Insulin Resistance Ar intellectual disability Crebbp , Ep300 , Pias2 , Stip1 interstitial lung disease 2 Ep300 intrahepatic cholangiocarcinoma Hsp90aa1 , Hsp90ab1 invasive ductal carcinoma Ar Kennedy's disease Ar Kidney Reperfusion Injury Ep300 , Hspa8 Knee Osteoarthritis Ar , Hsp90aa1 Kohlschutter-Tonz syndrome Crebbp leiomyoma Ar leukemia Ar , Ncoa3 leukocyte adhesion deficiency 3 Stip1 liver disease Dnaja2 Liver Neoplasms Ncor1 Lubs Syndrome Ar lung adenocarcinoma Crebbp , Ep300 Lung Neoplasms Ar lung non-small cell carcinoma Ncoa2 , Ncoa3 Lung Reperfusion Injury Crebbp lung small cell carcinoma Crebbp , Ep300 lung squamous cell carcinoma Crebbp , Ep300 macular degeneration Hspa8 Male Breast Neoplasms Ar male infertility Ar male reproductive system disease Ar malignant astrocytoma Ar , Ncoa3 malignant pleural mesothelioma Ncoa2 Marfanoid Mental Retardation Syndrome, Autosomal Crebbp Mayer-Rokitansky-Kuster-Hauser syndrome Ar medulloblastoma Crebbp , Ep300 melanoma Crebbp , Ep300 , Stip1 membranoproliferative glomerulonephritis Ep300 Menke-Hennekam Syndrome Crebbp Menke-Hennekam Syndrome 1 Crebbp Menke-Hennekam Syndrome 2 Ep300 microcephaly Ep300 Microcephaly, Epilepsy, and Diabetes Syndrome Pias2 mitochondrial complex III deficiency nuclear type 1 Ncor1 mitochondrial complex III deficiency nuclear type 2 Ncor1 Mouth Neoplasms Hspa8 multicentric Castleman disease Ar Multicystic Dysplastic Kidney Ep300 Multiple Abnormalities Ep300 multiple myeloma Crebbp , Ncor2 multiple sclerosis Hsp90ab1 , Hspa8 muscular atrophy Hsp90ab1 myelodysplastic syndrome Crebbp myelofibrosis Ncor2 Myocardial Reperfusion Injury Crebbp Neonatal Hyperbilirubinemia Ncor1 Neoplasm Metastasis Hsp90aa1 , Ncoa1 Neoplasm Recurrence, Local Ar nephronophthisis-like nephropathy 1 Ep300 Nervous System Lead Poisoning Ep300 Nervous System Malformations Crebbp NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES Crebbp Neurodevelopmental Disorders Crebbp , Ep300 , Hsp90aa1 obesity Ar , Ep300 , Ncoa1 , Ncoa3 Ocular Paraneoplastic Syndromes Hspa8 oppositional defiant disorder Ar Optic Nerve Injuries Ep300 osteoarthritis Ncor2 osteoporosis Ar Osteoporotic Fractures Ar ovarian cancer Ar Painful Neuropathy Ep300 pancreatic ductal adenocarcinoma Hspa8 pancreatitis Hsp90ab1 Parkinson's disease Hspa8 partial androgen insensitivity syndrome Ar polycystic ovary syndrome Ar , Ncoa2 , Ncor1 portal hypertension Hsp90aa1 Postmenopausal Osteoporosis Ar pre-eclampsia Crebbp Pregnancy Complications Ncoa2 prostate adenocarcinoma Ar , Ncoa2 prostate cancer Ar , Ep300 , Ncoa1 , Ncoa2 , Ncoa3 Prostate Cancer, Somatic Ar prostate carcinoma in situ Ar , Carm1 prostatic hypertrophy Ar Prostatic Neoplasms Ar , Carm1 , Crebbp , Hsp90ab1 , Ncoa1 , Ncoa2 , Ncoa3 , Ncor1 , Ncor2 psoriasis Carm1 pulmonary fibrosis Hsp90ab1 relapsing-remitting multiple sclerosis Hspa8 renal hypertension Hspa8 Reperfusion Injury Ep300 , Hspa8 rheumatoid arthritis Hsp90aa1 Rubinstein-Taybi syndrome Crebbp , Ep300 , St13 Sarcopenia Ar schizophrenia Hspa8 scoliosis Crebbp sensorineural hearing loss Ncoa3 Sepsis Ep300 Sezary's disease Crebbp short-rib thoracic dysplasia 9 with or without polydactyly Crebbp skin melanoma Crebbp spermatogenic failure 3 Ar Spinal Cord Injuries Hsp90ab1 spinal muscular atrophy Ar spinocerebellar ataxia type 17 Hspa8 Spinocerebellar Ataxias Ep300 squamous cell carcinoma Crebbp , Ep300 , Hspa8 , Ncoa3 Stevens-Johnson syndrome Ep300 stomach cancer Ncoa2 Stomach Neoplasms Hspa8 syndromic X-linked intellectual disability Lubs type Ar systemic lupus erythematosus Ep300 T-cell non-Hodgkin lymphoma Ep300 Tatton-Brown-Rahman syndrome Ncoa1 teratoma Crebbp Thumb Deformity Crebbp , Ep300 thyroid hormone resistance syndrome Ncoa1 transient cerebral ischemia Ep300 , Hspa8 transitional cell carcinoma Crebbp , Ep300 , Ncor1 transthyretin amyloidosis Crebbp type 2 diabetes mellitus Ar , Ep300 urinary bladder cancer Crebbp , Ep300 , Ncor1 Uterine Cervical Neoplasms Crebbp , Ep300 Vici syndrome Pias2