Gene Summary

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

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
decreased bone mineral density Tacr3em1(IMPC)J HOM Early adult 5.30×10-05
decreased bone mineral content Tacr3em1(IMPC)J HOM Early adult 1.19×10-06
female infertility Tacr3em1(IMPC)J HOM Early adult 0.00
abnormal cornea morphology Tacr3em1(IMPC)J HOM   Early adult 1.40×10-05
increased total body fat amount Tacr3em1(IMPC)J HOM Early adult 1.85×10-06
decreased grip strength Tacr3em1(IMPC)J HOM Early adult 4.61×10-06

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.

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Auditory Brain Stem Response

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

10 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
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment, Hypogonadism OMIM:615989
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism, Dementia OMIM:212840
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Disproportionate tall statu... OMIM:615300
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Micropenis, Hypogonadism, Obesity OMIM:615983
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Bardet-Biedl Syndrome 10
Obesity, Cognitive impairment, Hypogonadism OMIM:615987
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... OMIM:614841
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cognitive impairment OMIM:613909
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Bardet-Biedl Syndrome 16
Obesity, Cognitive impairment, External genital hypoplasia, Hypogonadism OMIM:615993
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cognitive impairment ORPHA:276183
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Invasive Mole
Menometrorrhagia ORPHA:99925
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Decreased testicular size, Hypogonadism, Cryptorchidism, Prem... ORPHA:261483
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... ORPHA:432
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
46,Xy Sex Reversal 1
Sex reversal, Tall stature, Male pseudohermaphroditism, Abnormality of male external genitalia, P... OMIM:400044
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea, Obesity OMIM:604931
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Adenomyosis
Adenomyosis, Dysmenorrhea OMIM:600458
Meningioma
Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hy... ORPHA:2495
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Emotional lability OMIM:309585
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Premature Ovarian Failure 2B
Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Tall stature OMIM:300604
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... OMIM:616185
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Tall sta... ORPHA:99429
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Tall stature, Absence of pubertal development, Primar... ORPHA:785
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Abnormal circulating insulin concentration, Truncal obesity ORPHA:293964
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:66628
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi... OMIM:601820
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Bardet-Biedl Syndrome 4
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism OMIM:615982
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... ORPHA:3085
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Cogniti... ORPHA:457059
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Depression, Anxiety, Premature ovarian insufficiency OMIM:619425
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Aggressive... OMIM:614963
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Memory impairment, Cognitive impairment ORPHA:369873
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity OMIM:615703
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Hypogonadism OMIM:615985
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:600955
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism OMIM:615981
Hydatidiform Mole
Enlarged uterus, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Pancreatic... ORPHA:276608
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Agg... OMIM:300148
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism ORPHA:363741
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism, M... OMIM:202150
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Galactosemia
Failure to thrive, Cognitive impairment, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea... ORPHA:352
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Abnormal circulating hormone concentration, Insuli... ORPHA:280356
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Decreased... ORPHA:3464
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Peritoneal Cystic Mesothelioma
Weight loss, Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Classic Galactosemia
Mental deterioration, Depression, Oligomenorrhea, Primary amenorrhea, Anxiety, Decreased fertilit... ORPHA:79239
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Adiposis Dolorosa
Depression, Obesity, Anxiety OMIM:103200
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Memory impairment OMIM:619737
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Micropenis, Diabetes mellitus, Obesity, Cryptor... ORPHA:85282
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid habitus, Ta... ORPHA:91
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... ORPHA:95496
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Glucocorticoid Resistance, Generalized
Infertility, Irregular menstruation, Anxiety OMIM:615962
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Abnormal aggressive, impulsive or violent behavior, Aggre... ORPHA:3077
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lig4 Syndrome
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism OMIM:606593
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Pseudohypoparathyroidism, Type Ic
Cognitive impairment, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadis... OMIM:612462
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, T... ORPHA:90794
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Cognitive impairment, Depr... ORPHA:77296
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Pituitary Gigantism
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... ORPHA:99725
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Insulinoma
Transient global amnesia, Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsul... ORPHA:97279
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Depression, Increased body weight, Macro... OMIM:615954
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... ORPHA:2965
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... ORPHA:478
Wilson Disease
Failure to thrive, Depression, Abnormality of the menstrual cycle, Hypersexuality, Aggressive beh... ORPHA:905
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Failure to thrive OMIM:619151
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Hypergonadotropic hypo... ORPHA:10
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Apathy, Decreased serum testosterone concentration, ... ORPHA:465508
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Mental deterioration, Depression, Anxiety, Truncal obesity,... OMIM:219080
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Ataxia-Oculomotor Apraxia Type 4
Obesity, Cognitive impairment ORPHA:459033
Luscan-Lumish Syndrome
Irregular menstruation, Anxiety, Overgrowth, Aggressive behavior, Polycystic ovaries, Obesity OMIM:616831
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Cognitive impairment OMIM:612463
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... ORPHA:2795
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Prader-Willi Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:739
Vernal Keratoconjunctivitis
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Pseudohypoparathyroidism, Type Ia
Cognitive impairment, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadis... OMIM:103580
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Cognitive ... ORPHA:330015
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy, Inguinal hernia OMIM:609141
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Kennerknecht syndrome
Abdominal obesity, Agonadism, Hypoplasia of the uterus OMIM:600908
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Proportionate tal... ORPHA:528
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Schaaf-Yang Syndrome
Impulsivity, Micropenis, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy, Ski... OMIM:615547
Limbal Stem Cell Deficiency
Corneal scarring, Keratitis, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Bardet-Biedl Syndrome 17
Obesity, Cognitive impairment, Micropenis, Hypogonadism OMIM:615994
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... ORPHA:91354
Cushing Disease
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Abdominal... ORPHA:96253
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Gangliocytoma
Amenorrhea, Abnormality of the pituitary gland, Pituitary null cell adenoma, Impotence, Abnormal ... ORPHA:251937
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Self-mutilation, Micropenis, Depression, A... ORPHA:457240
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Depression, Emotional lability, Adrenal hyperplasia, Primar... OMIM:615830
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Diabetes mellitus, Vaginal atresia, Obesity OMIM:605231
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Bardet-Biedl Syndrome 9
Obesity, Irregular menstruation, Truncal obesity OMIM:615986
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Depression, Primary amenorrhea, Secondary ame... OMIM:157640
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... OMIM:604367
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Tall stature, Irritability, Anxiety,... ORPHA:96263
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Dentinogenesis imperfecta, Keratoconus, Joint laxity, Keratoglobus, A... OMIM:229200
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Large for ... ORPHA:263455
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Hypogonadism ORPHA:3409
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Pituitary adenoma, Abnormal fear/anxiety-related behavior, Increased circulati... OMIM:219090
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... OMIM:221800
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Tsh-Secreting Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... ORPHA:91347
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Obesity, Cryptorchidism ORPHA:110
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Progressive language deterioration, Self-mutilation, Mental deterioration, Lo... ORPHA:163681
Adiposis Dolorosa
Depression, Anxiety, Memory impairment, Hypothyroidism, Obesity ORPHA:36397
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Depression, ... ORPHA:99832
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Sheehan Syndrome
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... ORPHA:91355
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Cryptorchidism OMIM:618822
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Delayed puberty, Polycys... ORPHA:264580
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Self-injurious behavior, Aggressive behavior, Micropenis OMIM:300860
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95512
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Aggressive behavior, Decreased testicular size, Emotional lability, Hypoplastic female e... OMIM:612469
Blue Diaper Syndrome
Increased body weight, Elevated circulating thyroid-stimulating hormone concentration, Decreased ... ORPHA:94086
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95513
Smith-Magenis Syndrome
Increased body weight, Head-banging, Abnormality of the thyroid gland, Self-mutilation OMIM:182290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Polycystic ovaries, Increased body weight ORPHA:79240
16P13.2 Microdeletion Syndrome
Failure to thrive, Impulsivity, Micropenis, Aggressive behavior, Hypogonadism, Cryptorchidism, Ov... ORPHA:500055
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Small for gestational age, Elevated circulating luteinizing hormone lev... OMIM:618419
Wolfram Syndrome 2
Depression, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus OMIM:604928
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... ORPHA:2298
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Tall stature ORPHA:90308
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca ORPHA:411777
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Mody
Abnormal circulating insulin concentration, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Pancr... ORPHA:552
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... OMIM:137920
Ulnar-Mammary Syndrome
Hypoplasia of penis, Hypoplastic nipples, Breast aplasia, Abnormality of the uterus, Delayed pube... ORPHA:3138
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Hypergonadotropic hypogonadism, ... ORPHA:273
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Abnormality of the ovary, Micropenis, Truncal ... OMIM:209900
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Non-Acquired Panhypopituitarism
Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... ORPHA:90695
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior OMIM:300322
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Sotos Syndrome
Tall stature, Overgrowth, Aggressive behavior, Increased body weight, Cryptorchidism OMIM:117550
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Bardet-Biedl Syndrome 20
Obesity, Bilateral cryptorchidism, Male hypogonadism, Micropenis OMIM:619471
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle, Tall stature, Cognitive impairment ORPHA:2346
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Cryptorchidism, Decreased response to growth hormone stimulation test, Eleva... ORPHA:280651
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... ORPHA:99413
Turner Syndrome
Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... ORPHA:881
Mosaic Monosomy X
Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... ORPHA:99228
Monosomy X
Female infertility, Reduced bone mineral density, Osteopenia, Primary amenorrhea, Osteoporosis, S... ORPHA:99226
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Disproportionate tall stature, Hypospadias, Abnormality of the Leydig cells, ... ORPHA:3063
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm ORPHA:556
African Trypanosomiasis
Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... ORPHA:3385
Peters-Plus Syndrome
Hypoplasia of the uterus, Decreased body weight, Hypospadias, Hypoplasia of the vagina, Clitoral ... OMIM:261540
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Congenital hypothyroidism, Clitoral hypoplasia, Anterior h... ORPHA:709
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Hellp Syndrome
Increased body weight ORPHA:244242
Hypermobile Ehlers-Danlos Syndrome
Depression, Abnormality of the menstrual cycle, Cystocele, Decreased fertility ORPHA:285

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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