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Estrogen resistance syndrome
1 OMIM reference -
1 associated gene
364 connected diseases
No signs/symptoms info
Disease Type of connection
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Giant cell glioblastoma
Gliosarcoma
Acute promyelocytic leukemia
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Coffin-Siris syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
Cowden syndrome
Left ventricular noncompaction
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Autosomal dominant nonsyndromic intellectual deficit
Keratosis palmoplantaris striata
B-cell chronic lymphocytic leukemia
Papillary or follicular thyroid carcinoma
Familial rhabdoid tumor
Familial multiple meningioma
X-linked non-syndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Berardinelli-Seip congenital lipodystrophy
Multiple endocrine neoplasia type 1
X-linked Emery-Dreifuss muscular dystrophy
Autosomal dominant macrothrombocytopenia
Autosomal recessive nonsyndromic intellectual deficit
Lymphangioleiomyomatosis
Tuberous sclerosis
Weaver syndrome
Constitutional mismatch repair deficiency syndrome
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Precursor T-cell acute lymphoblastic leukemia
Lethal acantholytic epidermolysis bullosa
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Williams syndrome
Proteus syndrome
Melanoma of soft part
Squamous cell carcinoma of head and neck
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Annular epidermolytic ichthyosis
Autosomal dominant Emery-Dreifuss muscular dystrophy
Enchondromatosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Maffucci syndrome
Mitochondrial trifunctional protein deficiency
Pachyonychia congenita
Peripheral resistance to thyroid hormones
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Retinitis pigmentosa
Diffuse cutaneous systemic sclerosis
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Mantle cell lymphoma
Multiple myeloma
Primary peritoneal carcinoma
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alveolar rhabdomyosarcoma
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Adrenocortical carcinoma
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Distal 22q11.2 microdeletion syndrome
Anaplastic ependymoma
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Spinocerebellar ataxia type 17
Fraser syndrome
2q37 microdeletion syndrome
Autosomal agammaglobulinemia
Growth delay due to insulin-like growth factor I resistance
SHORT syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Cerebellar ataxia - hypogonadism
Argininemia
Atrial septal defect, ostium secundum type
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Blepharophimosis-intellectual deficit syndrome, MKB type
Coffin-Lowry syndrome
FG syndrome type 1
Familial amyloidosis, Finnish type
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
X-linked intellectual deficit with marfanoid habitus
Aneurysm - osteoarthritis syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Familial thoracic aortic aneurysm and aortic dissection
Frontometaphyseal dysplasia
Inflammatory myofibroblastic tumor
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Naxos disease
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
5q35 microduplication syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Bannayan-Riley-Ruvalcaba syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Inherited acute myeloid leukemia
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Myhre syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Sotos syndrome
Angelman syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
ANE syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Larsen syndrome
Autosomal dominant spastic paraplegia type 13
Boomerang dysplasia
CLOVE syndrome
Craniopharyngioma
Desmoid tumor
Distal hereditary motor neuropathy type 2
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Hemimegalencephaly
Hepatocellular carcinoma, childhood-onset
Intrahepatic cholestasis of pregnancy
Kostmann syndrome
Lissencephaly due to TUBA1A mutation
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Pilomatrixoma
Pseudohypoaldosteronism type 2E
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Spondylocarpotarsal synostosis
Xq27.3q28 duplication syndrome
Atypical teratoid tumor
Autosomal dominant hyper-IgE syndrome
Neurofibromatosis type 3
Reducing body myopathy
X-linked myopathy with postural muscle atrophy
Zollinger-Ellison syndrome
Smith-Magenis syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Bohring-Opitz syndrome
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Osteogenesis imperfecta type 3
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Congenital atransferrinemia
Desmoplastic small round cell tumor
Dyskeratosis congenita
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Frontotemporal dementia with motor neuron disease
Hoyeraal-Hreidarsson syndrome
Hypotrichosis simplex
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Neuroblastoma
Partial chromosome Y deletion
Spinocerebellar ataxia type 36
Auriculocondylar syndrome
Hyperinsulinism due to HNF4A deficiency
Intellectual deficit - sparse hair - brachydactyly
MODY syndrome
17p13.3 microduplication syndrome
1p36 deletion syndrome
3-phosphoglycerate dehydrogenase deficiency
AICA-ribosiduria
ALDH18A1-related De Barsy syndrome
Acrokeratosis verruciformis of Hopf
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Acute fatty liver of pregnancy
Acyl-CoA dehydrogenase 9 deficiency
Adult-onset autosomal dominant leukodystrophy
Adult-onset distal myopathy due to VCP mutation
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Anauxetic dysplasia
Angel-shaped phalango-epiphyseal dysplasia
Arthrogryposis - renal dysfunction - cholestasis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive spastic paraplegia type 30
Bardet-Biedl syndrome
Behavioral variant of frontotemporal dementia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type C
Burkitt lymphoma
CHILD syndrome
CK syndrome
CLN10 disease
Carnitine-acylcarnitine translocase deficiency
Cerebro-facio-articular syndrome
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Childhood-onset nemaline myopathy
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital fiber-type disproportion myopathy
Congenital fibrosis of extraocular muscles
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital muscular dystrophy due to LMNA mutation
Congenital myopathy with excess of thin filaments
Congenital reticular ichthyosiform erythroderma
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Craniolenticulosutural dysplasia
D-2-hydroxyglutaric aciduria
DDOST-CDG
Darier disease
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 5
Distal myopathy with posterior leg and anterior hand involvement
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Encephalopathy due to hydroxykynureninuria
Familial atrial fibrillation
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated congenital asplenia
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Fibular aplasia - complex brachydactyly
GCS1-CDG
Gamma-aminobutyric acid transaminase deficiency
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Heart-hand syndrome, Slovenian type
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hereditary sensory and autonomic neuropathy type 2
Hutchinson-Gilford progeria syndrome
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperparathyroidism - jaw tumor syndrome
Ichthyosis hystrix of Curth-Macklin
Idiopathic pulmonary fibrosis
Infantile cerebellar-retinal degeneration
Intellectual deficit, X-linked, Turner type
Intermediate nemaline myopathy
Isolated NADH-CoQ reductase deficiency
Isolated cytochrome C oxidase deficiency
Isolated focal cortical dysplasia type IIb
Joubert syndrome with oculorenal defect
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Leber congenital amaurosis
Lethal restrictive dermopathy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
MELAS syndrome
MULIBREY nanism
Mandibuloacral dysplasia with type A lipodystrophy
Mandibulofacial dysostosis-microcephaly syndrome
Maternally-inherited Leigh syndrome
Meckel syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Miller-Dieker syndrome
Mitochondrial myopathy and sideroblastic anemia
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Multiple acyl-CoA dehydrogenation deficiency, mild type
Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type
Multiple synostoses syndrome
Muscle filaminopathy
Noonan syndrome-like disorder with loose anagen hair
Parathyroid carcinoma
Phosphoenolpyruvate carboxykinase 2 deficiency
Primary ciliary dyskinesia
Progeria-associated arthropathy
Progressive non-fluent aphasia
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Proximal symphalangism
Recurrent infections-myelofibrosis-nephromegaly syndrome
Semantic dementia
Senior-Loken syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe congenital nemaline myopathy
Shprintzen-Goldberg syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 26
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Treacher-Collins syndrome
Typical nemaline myopathy
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
X-linked Charcot-Marie-Tooth disease type 4
Young adult-onset Parkinsonism
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Catecholaminergic polymorphic ventricular tachycardia
Familial renal amyloidosis due to lysozyme variant
Hypotonia with lactic acidemia and hyperammonemia
Peters anomaly
Severe combined immunodeficiency due to LCK deficiency
Cabezas syndrome
Cytomegalic congenital adrenal hypoplasia
Generalized resistance to thyroid hormone
Hereditary gingival fibromatosis
Immunodeficiency by defective expression of HLA class 1
Noonan syndrome
Ondine syndrome
Selective pituitary resistance to thyroid hormone
WAGR syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ESR1 P03372133430
No signs/symptoms info available.