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Gene: Nr2f2 MGI:1352452

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 2, group F, member 2
Synonyms:
9430015G03Rik,  Tcfcoup2,  Aporp1,  EAR3,  ARP-1,  COUP-TF2,  COUP-TFII

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr2f2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nr2f2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901

The table below shows human diseases predicted to be associated to Nr2f2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Invasive Mole
Menometrorrhagia ORPHA:99925
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Ovarian Dysgenesis 5
Primary amenorrhea, Short stature, Hypoplasia of the uterus OMIM:617690
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism ORPHA:397685
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Adenomyosis
Dysmenorrhea OMIM:600458
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Pyknoachondrogenesis
Stillbirth OMIM:265880
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism OMIM:614129
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature OMIM:616113
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Ovarian Dysgenesis 4
Primary amenorrhea, Short stature OMIM:616185
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Ovarian Dysgenesis 1
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level OMIM:233300
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased... ORPHA:1643
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma, Secondary amenorrhea OMIM:104600
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Short stature, Hypogonadism, Premature ovarian insufficiency, Cr... ORPHA:261483
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Severe short stature ORPHA:2278
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Estrogen Resistance
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Inc... ORPHA:2410
Mullerian Aplasia And Hyperandrogenism
Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uterus, Amenorrhea, Abnormality of the e... OMIM:158330
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Short stature, Premature pubarche OMIM:612847
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Short stature, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Short stature, Increased ci... ORPHA:243
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Pituicytoma
Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased female libido, Dec... ORPHA:251623
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Short stature, Premature adrenarche, Ambiguous genitalia, fem... ORPHA:90795
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Periphera... OMIM:126320
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Short s... ORPHA:247768
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Short stature, Ambiguous ge... ORPHA:90796
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Diabetes mellitus, Cryptorchidism,... OMIM:610628
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Hypogonadotropic hypogonadism, P... ORPHA:95619
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Short stature, Premature ovarian insufficiency OMIM:618625
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Short stature, Polycystic ovaries, Hypergonadotr... ORPHA:3085
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorrhage, Atria... ORPHA:90308
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Seckel Syndrome 7
Central hypothyroidism, Intrauterine growth retardation, Severe short stature, Primary amenorrhea... OMIM:614851
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea OMIM:136680
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... OMIM:603896
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Premature ovarian insufficiency OMIM:618124
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:612702
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... OMIM:616501
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Impotence, Adrenocorticotropic hormone deficiency, Cent... ORPHA:91354
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Diabetes mellitus OMIM:613877
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:79085
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Short stature, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyp... OMIM:268020
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Short stature, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopl... ORPHA:95496
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Short stature, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone d... ORPHA:2235
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Interstitial Cystitis
Abnormal vagina morphology, Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspar... ORPHA:37202
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Atrial septal dil... ORPHA:1677
Pregnancy Loss, Recurrent, Susceptibility To, 3
Recurrent spontaneous abortion OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
Recurrent spontaneous abortion OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
Recurrent spontaneous abortion OMIM:614389
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Gestational Choriocarcinoma
Spontaneous abortion, Metrorrhagia ORPHA:99926
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Premature ovarian insufficiency ORPHA:2928
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... ORPHA:99725
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:743
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Senior-Loken Syndrome
Short stature, Premature ovarian insufficiency ORPHA:3156
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency, Pulmonary embolism, Ar... ORPHA:624
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma, Pituitary ad... OMIM:102200
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... OMIM:604367
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435651
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level OMIM:600955
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Alpha-Heavy Chain Disease
Growth delay, Premature ovarian insufficiency ORPHA:100025
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins ORPHA:75508
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility OMIM:615962
Idiopathic Pulmonary Arterial Hypertension
Syncope, Abnormal jugular vein morphology, Right ventricular hypertrophy, Palpitations, Pulmonary... ORPHA:275766
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Proteus Syndrome
Venous malformation OMIM:176920
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Dysmenorrhea, Bifid scrotum, Intrauterine growth retardation, Abnormality of the scr... ORPHA:397590
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435660
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Lig4 Syndrome
Cryptorchidism, Micropenis, Amenorrhea, Hypothyroidism OMIM:606593
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Venous insufficiency, Arteriovenous malformation ORPHA:137608
Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary ameno... ORPHA:352
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Peritoneal Cystic Mesothelioma
Menorrhagia, Metrorrhagia, Dyspareunia ORPHA:168816
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Short stature, Premature ovarian insufficiency OMIM:619518
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Intrauterine growth retardation, Chordee, Spontaneous abortion, Bilateral cryptorchi... ORPHA:96179
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Disproportionate short-limb short stature, Primary amenorrhea, Hypergon... OMIM:609441
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Congenital Generalized Lipodystrophy
Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clitoral hypertrop... ORPHA:528
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Short stature, Azoospermia OMIM:601076
Parkes Weber Syndrome
Arteriovenous fistula, Muscle hypertrophy of the lower extremities, Abnormal lymphatic vessel mor... ORPHA:90307
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Primary amenorrhea, Fused labia minora ORPHA:2975
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Tetralogy of Fallot, Arrhythmia OMIM:153400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... ORPHA:98754
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Decreased muscle mass, Mitral valve prolapse, Abnormal venous morphology, Limb... ORPHA:1900
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Growth delay, Ambiguous genitalia, femal... ORPHA:91
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... ORPHA:98793
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Varicose Veins
Varicose veins OMIM:192200
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... ORPHA:177901
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Prematu... ORPHA:398079
Woodhouse-Sakati Syndrome
Growth delay, Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube... ORPHA:3464
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Familial Afibrinogenemia
Spontaneous abortion, Menometrorrhagia ORPHA:98880
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Temple Syndrome
Type II diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:254516
Precocious Puberty, Central, 1
Short stature, Elevated circulating follicle stimulating hormone level, Isosexual precocious pube... OMIM:176400
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Cerebral hemorrhage, Ischemic stroke, Spinal arteriovenous malformat... OMIM:610655
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Hypotension OMIM:263400
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Growth delay, Amenorrhea, Short stature, Hypogonadotropic ... ORPHA:90695
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Hypogonadism, Cryptorchidism, Precocious puberty, Gonadal dysgenesis ORPHA:3306
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Lymphatic Malformation 7
Varicose veins, Pericardial effusion, Atrial septal defect OMIM:617300
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Anterio... ORPHA:398073
Enlarged Parietal Foramina
Venous malformation, Myelomeningocele ORPHA:60015
Prader-Willi Syndrome
Hypoplastic labia minora, Short stature, Premature adrenarche, Decreased inhibin B level, Diabete... ORPHA:739
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Severe postnatal growth retardation,... OMIM:266810
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Short stature, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, Clitoral h... OMIM:262190
Liposarcoma
Varicose veins ORPHA:69078
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... OMIM:617478
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Persistent left superior vena cava, Aortic root aneurysm, Situs inversus t... OMIM:609008
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Autosomal Dominant Spastic Paraplegia Type 10
Upper limb amyotrophy, Leg muscle stiffness, Distal lower limb amyotrophy, Dupuytren contracture,... ORPHA:100991
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Mitral regurgitation, Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosi... OMIM:612541
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Short s... ORPHA:398069
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Cholelithiasi... OMIM:240300
Kaposi Sarcoma
Venous insufficiency ORPHA:33276
Prader-Willi Syndrome
Hypoplastic labia minora, Adrenal insufficiency, Infertility, Oligomenorrhea, Type II diabetes me... OMIM:176270
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Uterine neoplasm, N... ORPHA:370348
Thymic Carcinoma
Abnormal vena cava morphology ORPHA:99868
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... ORPHA:2306
Donohue Syndrome
Intrauterine growth retardation, Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperpla... OMIM:246200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Short stature, Polycystic ovaries, Postnatal growth retardation, Ir... ORPHA:79240
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Foix-Alajouanine Syndrome
Arteriovenous fistula, Distal lower limb amyotrophy, Venous malformation, Distal lower limb muscl... ORPHA:79093
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... OMIM:209900
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Ventricular septal defect, Mitral valve prolapse, Left superior vena cava ... OMIM:602782
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Venous malformation OMIM:612918
Renal Nutcracker Syndrome
Syncope, Vulval varicose vein, Orthostatic hypotension, Tachycardia, Varicose veins, Dilatation o... ORPHA:71273
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Abnormal heart morphology, Varicose veins, Vascular dilatation, Camptodactyly OMIM:618343
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Double outlet right ventricle, Situs inversus totalis, Abnorm... ORPHA:244
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Varicose veins OMIM:314300
Livedoid Vasculopathy
Hypertension, Abnormal capillary morphology, Telangiectasia of the skin, Varicose veins, Venous i... ORPHA:542643
Lymphedema-Distichiasis Syndrome
Varicose veins, Arrhythmia, Patent ductus arteriosus ORPHA:33001
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:187300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Abnormal vena cava morphology, Heart murmur ORPHA:166035
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Tricuspid valve prolapse, Gastrointestinal hemorrhage, Venous insuffi... ORPHA:2346
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... OMIM:618775
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Varicose veins OMIM:125310
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation ORPHA:83454
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... OMIM:201810
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr... ORPHA:69085
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrhage, Gastrointestinal h... ORPHA:565
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal venous morphology ORPHA:276280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Severe postnatal growth retardation, Uterus didelphys,... ORPHA:2237
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Abnormal vena cava morphology ORPHA:97289
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, P... ORPHA:163956
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Tortuous cerebral arteries, Aortic tortuosity, Patent ductus arteriosus, V... OMIM:613795
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Short stature, Chordee, Diabetes mellitus, Premature ovarian insufficiency, Delayed ... OMIM:176690
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of t... OMIM:309801
Myhre Syndrome
Hypospadias, Abnormal penis morphology, Intrauterine growth retardation, External genital hypopla... ORPHA:2588
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Promi... ORPHA:536532
Exstrophy-Epispadias Complex
Male sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penos... ORPHA:322
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Intrauterine growth re... ORPHA:99226
Proteus-Like Syndrome
Venous insufficiency ORPHA:2969
Harrod Syndrome
Varicose veins OMIM:601095
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Intrauterine growth retardation, Urethral atresia, Disproportionate short-... ORPHA:94095
H Syndrome
Facial telangiectasia, Abnormal cardiovascular system physiology, Varicose veins, Camptodactyly ORPHA:168569
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... OMIM:137920
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Meige Disease
Varicose veins ORPHA:90186
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Varicose veins, Mitral valve prolapse OMIM:617107
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... ORPHA:358
22Q11.2 Deletion Syndrome
Meningocele, Retinal arteriolar tortuosity, Abnormal aortic arch morphology, Truncus arteriosus, ... ORPHA:567
Hepatocellular Carcinoma
Budd-Chiari syndrome, Venous insufficiency, Portal hypertension, Hypotension, Internal hemorrhage ORPHA:88673
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Lymphatic Malformation 6
Intestinal lymphangiectasia, Varicose veins, Atrial septal defect OMIM:616843
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Abnormal right ve... ORPHA:500095
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Phocomelia, Schinzel Type
Aplasia of the uterus, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of penis, Disp... ORPHA:2879
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Mitral valve calcification, Pulmonary arterial hypertension, Spontaneous,... ORPHA:2072
Ehlers-Danlos Syndrome, Vascular Type
Carotid cavernous fistula, Mitral valve prolapse, Arterial rupture, Recurrent intrapulmonary hemo... OMIM:130050
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Short statur... OMIM:614527
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Aortic dissec... ORPHA:286
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon ru... ORPHA:285
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Occipital Horn Syndrome
Vascular dilatation, Venous insufficiency ORPHA:198
Microphthalmia With Limb Anomalies
Venous insufficiency, Camptodactyly of 2nd-5th fingers ORPHA:1106
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts, Short stature OMIM:274000
Norrie Disease
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Cryptorchidism, Delayed puberty ORPHA:649
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Intrauterine growth retardation, Severe postnatal growth reta... OMIM:194190
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Intrauterine growth retardation, Bifid uterus, Adrenal g... OMIM:236680
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Rubinstein-Taybi Syndrome 1
Hypospadias, Bifid uterus, Short stature, Growth delay, Papillary cystadenoma of the epididymis, ... OMIM:180849
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Intrauterine growth retardation, Short stature, Clitoral hype... OMIM:135900
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Okamoto Syndrome
Severe postnatal growth retardation, Bifid uterus ORPHA:2729
Neu-Laxova Syndrome 1
Cryptorchidism, Intrauterine growth retardation, Bifid uterus OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Disproportionate short stature, Aplasia of the uterus, Hypoplastic nipples, Cryptorc... OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Growth delay, Small scrotum, Aplasi... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nr2f2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr2f2.

No publications found that use IMPC mice or data for Nr2f2.

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MGI Allele Allele Type Produced
Nr2f2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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