Gene Summary

Name:
tachykinin receptor 3
Synonyms:
neuromedin K receptor,  Tac3r,  Nk3r

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Tacr3em1(IMPC)J HOM Early adult 0.00
decreased grip strength Tacr3em1(IMPC)J HOM Early adult 5.27×10-06
abnormal cornea morphology Tacr3em1(IMPC)J HOM   Early adult 1.27×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Tacr3 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 Tacr3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tacr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Bardet-Biedl Syndrome 12
Cognitive impairment, Hypogonadism, Obesity OMIM:615989
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Megalocornea
Megalocornea OMIM:249300
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Dementia, Oligomenorrhea OMIM:212840
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Hypogonadism, Micropenis, Obesity OMIM:615983
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Disproportionate tall stature, Hypoplas... OMIM:615300
Bardet-Biedl Syndrome 10
Cognitive impairment, Hypogonadism, Obesity OMIM:615987
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Spinocerebellar Ataxia 32
Cognitive impairment, Infertility, Testicular atrophy, Azoospermia OMIM:613909
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis, Obesity ORPHA:85274
Spinocerebellar Ataxia Type 32
Cognitive impairment, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ovarian Dysgenesis 4
Decreased body weight, Primary amenorrhea OMIM:616185
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Bardet-Biedl Syndrome 16
Cognitive impairment, Hypogonadism, External genital hypoplasia, Obesity OMIM:615993
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis, ... OMIM:614962
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Invasive Mole
Menometrorrhagia ORPHA:99925
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Bardet-Biedl Syndrome 8
Cognitive impairment, Hypospadias, Hypogonadism, Obesity OMIM:615985
Dermoids Of Cornea
Corneal opacity OMIM:304730
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Emotional lability, Memory impairment, Obesit... ORPHA:2495
Premature Ovarian Failure 2B
Delayed puberty, Tall stature, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Cognitive impairment, Obesity OMIM:619058
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Bardet-Biedl Syndrome 7
External genital hypoplasia, Obesity OMIM:615984
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... ORPHA:226307
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Biemond Syndrome Type 2
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Bardet-Biedl Syndrome 6
Hypospadias, Diabetes mellitus, External genital hypoplasia, Obesity OMIM:605231
Bardet-Biedl Syndrome 17
Cognitive impairment, Hypogonadism, External genital hypoplasia, Obesity OMIM:615994
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age, Abnormal circulating insulin level ORPHA:293964
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... OMIM:612965
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... OMIM:618187
Leptin Receptor Deficiency
Aggressive behavior, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response... OMIM:614963
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Decreased fertility, Obesity, Abnormal testis morphology ORPHA:2233
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Obesity OMIM:615418
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Obesity ORPHA:369873
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Type II diabetes mellitus, Obesity OMIM:615703
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea, Obesity OMIM:600955
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Mehmo Syndrome
Male hypogonadism, Aggressive behavior, Decreased response to growth hormone stimuation test, Del... OMIM:300148
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, External genital hypoplasia, Obesity OMIM:615981
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Depression, Macronodular adrenal hyperplasia, Menometrorrhagia, Truncal obesity, Failure to thriv... ORPHA:189427
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Increased ... ORPHA:276608
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothy... ORPHA:98754
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothy... ORPHA:98793
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Galactosemia
Cryptorchidism, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary amenorrhea,... ORPHA:352
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothy... ORPHA:177904
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothy... ORPHA:177901
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Decreased testicular size, Hypoplasia of the fallopian tube, Hypopl... ORPHA:3464
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Metrorrhagia, Weight loss ORPHA:168816
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... OMIM:300068
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia of penis, Hyp... ORPHA:791
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Obesity OMIM:614947
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71526
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Depression, Decreased serum insul... ORPHA:79239
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Aggressive behavior, Obesity ORPHA:329249
Adiposis Dolorosa
Depression, Anxiety, Obesity OMIM:103200
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Primary amenorrhea, Tall statu... ORPHA:91
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Mehmo Syndrome
Cryptorchidism, External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Micropenis, ... ORPHA:85282
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothy... ORPHA:398073
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Anxiety OMIM:615962
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Obesity OMIM:613670
Autism, Susceptibility To, 18
Overweight, Anxiety, Tall stature OMIM:615032
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Ty... ORPHA:398079
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Skin-picking, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Im... ORPHA:398069
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Primary amenorrhea, Ectopic posterior pituita... ORPHA:95496
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Macroorchidism, Obesity, Irritability, Abnormal ... ORPHA:3077
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Failure to thrive, Micropenis OMIM:606593
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity OMIM:248100
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Lipodystrophy, Familial Partial, Type 4
Diabetes mellitus, Oligomenorrhea OMIM:613877
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hormone level, Cogniti... OMIM:612462
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... ORPHA:97279
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Overweight, Truncal obesity, Small for gest... OMIM:616222
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Wilson Disease
Abnormality of the menstrual cycle, Aggressive behavior, Depression, Hypersexuality, Weight loss,... ORPHA:905
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Adrenal hypoplasia OMIM:619151
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Depression, Hypergonadotropic hypogonadism, Tall statur... ORPHA:10
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Apathy, Hypothyroidism, Weight loss, Testicular at... ORPHA:465508
Chung-Jansen Syndrome
Cryptorchidism, Aggressive behavior, Impulsivity, Anxiety, Obesity OMIM:617991
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gonadotropin co... ORPHA:739
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Polycystic ovaries, Overgrowth, Anxiety, Obesity OMIM:616831
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Depression, Primary hyper... OMIM:219080
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hormone level, Cogniti... OMIM:103580
Cushing Disease
Infertility, Bipolar affective disorder, Depression, Truncal obesity, Menorrhagia, Metrorrhagia, ... ORPHA:96253
Ataxia-Oculomotor Apraxia Type 4
Cognitive impairment, Obesity ORPHA:459033
Pseudopseudohypoparathyroidism
Cognitive impairment, Pseudohypoparathyroidism, Obesity OMIM:612463
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increa... OMIM:614450
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism, Abdominal obesity OMIM:600908
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Summitt Syndrome
Obesity OMIM:272350
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Depression... ORPHA:330015
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
Temple Syndrome
Cryptorchidism, Decreased response to growth hormone stimuation test, Small for gestational age, ... ORPHA:254516
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Amenorrhea OMIM:604250
Laurence-Moon Syndrome
Cryptorchidism, Type II diabetes mellitus, Hypoplasia of penis, Displacement of the urethral meat... ORPHA:2377
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Decreased response to growth hormone stimuation test, Obesity, Adrenal insuff... OMIM:609734
Gestational Choriocarcinoma
Spontaneous abortion, Metrorrhagia ORPHA:99926
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Schaaf-Yang Syndrome
Cryptorchidism, Failure to thrive in infancy, Impulsivity, Hypogonadism, Micropenis, Obesity OMIM:615547
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Overweight, Depression, Anxiety, Decreased testicular size, Micropenis, Decrease... ORPHA:457240
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Dementia, ... ORPHA:251937
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Wagr Syndrome
Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia, Obesity ORPHA:893
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary ame... OMIM:157640
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal vagina morphology, Abnormal labia morphology, Dyspar... ORPHA:37202
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Dementia, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplasti... OMIM:119500
Bardet-Biedl Syndrome 9
Irregular menstruation, Truncal obesity, Obesity OMIM:615986
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Depression, Primary hypercortisolism, Emotional lability, I... OMIM:615830
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Obesity OMIM:618725
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
48,Xxxy Syndrome
Abnormal aggressive, impulsive or violent behavior, Infertility, Cryptorchidism, Azoospermia, Scr... ORPHA:96263
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Aggressive behavior OMIM:300860
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Increased ... ORPHA:263455
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Prader-Willi Syndrome
Infertility, Cryptorchidism, Hyperinsulinemia, Oligomenorrhea, Self-injurious behavior, Scrotal h... OMIM:176270
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsu... ORPHA:324575
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Pituitary adenoma, Emotional lability, Increased circulating ACTH level, Abnormal... OMIM:219090
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Adiposis Dolorosa
Depression, Hypothyroidism, Anxiety, Memory impairment, Obesity ORPHA:36397
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Depression, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circu... ORPHA:99832
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Truncal obesity, Small for gestational age,... ORPHA:96184
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Emotional lability, Truncal obesity, Delayed puberty, Decreased testicular size, ... OMIM:309585
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Tall stature, Overgrowth, Large for gestational age, Unilateral cryptorchidism ORPHA:137634
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Congenital hypothyroidism, Hypospadias, Diabetes mellitus, Obesity OMIM:614613
Familial Afibrinogenemia
Spontaneous abortion, Menometrorrhagia ORPHA:98880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Increased body weigh... ORPHA:264580
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Cryptorchidism, Obesity OMIM:618822
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
13Q12.3 Microdeletion Syndrome
Self-mutilation, Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Self-mutilation, Increased body weight OMIM:182290
Wolfram Syndrome 2
Depression, Diabetes mellitus, Primary amenorrhea, Oligomenorrhea OMIM:604928
16P13.2 Microdeletion Syndrome
Cryptorchidism, Skin-picking, Overweight, Aggressive behavior, Impulsivity, Failure to thrive, Hy... ORPHA:500055
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Premature adrenarche, Failure to thrive in infancy, A... ORPHA:813
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Spontaneous abortion, Large for gestational age ORPHA:169189
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Tall stature ORPHA:90308
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Cachexia, Hypoplasia of penis, Decreased testicular size, Hypogonadism, Obesity ORPHA:85293
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Bipolar affective disorder, Aggressive behavior, Proportionate tall stature, Neur... ORPHA:404443
Pseudohypoparathyroidism Type 1C
Depression, Hypergonadotropic hypogonadism, Oligomenorrhea, Pseudohypoparathyroidism, Decreased r... ORPHA:79444
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Reduced sperm motility, Hypoplasia of the uterus, Epididyma... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Abnormal testis morphology, Depression, Apathy, Irritability, Anxiety, Failure to... ORPHA:96147
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Breast aplasia, Hypoplastic nipples, Delayed puberty, ... ORPHA:3138
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Steinert Myotonic Dystrophy
Male hypogonadism, Impairment in personality functioning, Emotional lability, Ovarian carcinoma, ... ORPHA:273
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Cushing Syndrome Due To Ectopic Acth Secretion
Infertility, Depression, Pheochromocytoma, Neuroendocrine neoplasm, Weight loss, Menometrorrhagia... ORPHA:99889
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Obesity OMIM:600122
Mody
Hyperinsulinemic hypoglycemia, Overweight, Insulin-resistant diabetes mellitus, Hypoinsulinemia, ... ORPHA:552
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Primary amenorrhea, Obesity ORPHA:319675
Congenital Analbuminemia
Spontaneous abortion, Small for gestational age, Obesity ORPHA:86816
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hypopituitaris... ORPHA:54595
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior OMIM:300322
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Dementia, Emotional lability, Memory impairment, Mental deterioration, Obesity ORPHA:2822
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Pseudohypoparathyroidism Type 1A
Depression, Hypergonadotropic hypogonadism, Oligomenorrhea, Pseudohypoparathyroidism, Decreased r... ORPHA:79443
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Delayed puberty, Obesity ORPHA:251004
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, Diabetes i... ORPHA:3157
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microphthalmia, Syndromic 9
Cryptorchidism, Bicornuate uterus, Hypoplasia of the uterus OMIM:601186
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, C... ORPHA:280651
Angioosteohypertrophic Syndrome
Cognitive impairment, Abnormality of the menstrual cycle, Tall stature ORPHA:2346
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Disproportionate tall stature, Testicular atroph... ORPHA:3063
African Trypanosomiasis
Abnormality of renin-angiotensin system, Infertility, Abnormality of the menstrual cycle, Abnorma... ORPHA:3385
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm ORPHA:556
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Peters-Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Decreased body weight, Bilobate gallbladder, Clitoral h... OMIM:261540
Turner Syndrome
Primary amenorrhea, Female infertility, Secondary amenorrhea, Neck pterygia, Premature ovarian in... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Female infertility, Secondary amenorrhea, Neck pterygia, Premature ovarian in... ORPHA:99228
Monosomy X
Primary amenorrhea, Female infertility, Secondary amenorrhea, Neck pterygia, Premature ovarian in... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Female infertility, Secondary amenorrhea, Neck pterygia, Premature ovarian in... ORPHA:99413
Ulnar-Mammary Syndrome
Imperforate hymen, Breast hypoplasia, Axillary apocrine gland hypoplasia, Ectopic posterior pitui... OMIM:181450
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Congenital hypothyroidism, Hypospa... ORPHA:709
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Abnormal circulating follicle-stimulating hormone concentration, Conge... ORPHA:93325
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Hellp Syndrome
Increased body weight ORPHA:244242
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Abnormality of the menstrual cycle, Decreased fertility, Depression ORPHA:285
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906

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 Tacr3

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 Tacr3.

No publications found that use IMPC mice or data for Tacr3.

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MGI Allele Allele Type Produced
Tacr3em1(IMPC)J Exon Deletion Mice

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