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
abnormal cornea morphology Tacr3em1(IMPC)J HOM   Early adult 2.90×10-05
female infertility Tacr3em1(IMPC)J HOM Early adult 0.00
decreased bone mineral content Tacr3em1(IMPC)J HOM Early adult 1.19×10-06
decreased grip strength Tacr3em1(IMPC)J HOM Early adult 4.61×10-06
decreased bone mineral density Tacr3em1(IMPC)J HOM Early adult 4.96×10-05
increased total body fat amount Tacr3em1(IMPC)J HOM Early adult 1.85×10-06

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 Skull Dorso Ventral Orientation

2 Images

Electroretinography 3

Fundus file

6 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

Electrocardiogram (ECG)

Waveform Image

17 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 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Bardet-Biedl Syndrome 5
External genital hypoplasia, Cognitive impairment, Obesity, Hypogonadism, Micropenis OMIM:615983
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Primary amenorrhea, Absence of pubertal development, Dement... OMIM:212840
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism, Primary ame... OMIM:614962
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Diminished abilit... OMIM:301033
Spinocerebellar Ataxia 32
Cognitive impairment, Infertility, Testicular atrophy, Azoospermia OMIM:613909
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spinocerebellar Ataxia Type 32
Cognitive impairment, Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
46,Xy Sex Reversal 1
Gonadal dysgenesis, Tall stature, Abnormal female external genitalia morphology, Absence of secon... OMIM:400044
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Abnormal reproductive system morpholog... ORPHA:1916
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Obesity, Infertility OMIM:604931
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Memory impairm... ORPHA:251623
Leukoencephalopathy With Vanishing White Matter 2
Secondary amenorrhea, Premature ovarian insufficiency, Memory impairment OMIM:620312
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity, Cryptorchidism OMIM:309585
Meningioma
Transient global amnesia, Impotence, Cognitive impairment, Decreased circulating cortisol level, ... ORPHA:2495
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Bardet-Biedl Syndrome 16
Obesity, External genital hypoplasia, Hypogonadism, Cognitive impairment OMIM:615993
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Diabetes mellitus, Primary a... OMIM:610628
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Hypogonadism, Cryptorchidism, Truncal obesity ORPHA:261483
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Emotional la... ORPHA:179494
Narcolepsy Type 1
Transient global amnesia, Depression, Precocious puberty, Male sexual dysfunction, Obesity, Restl... ORPHA:2073
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Tall stature, Male in... ORPHA:99429
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Emotional lability, Pitui... OMIM:614963
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Invasive Mole
Menometrorrhagia ORPHA:99925
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Breast hypoplasia, Abno... ORPHA:785
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity ORPHA:293964
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit... ORPHA:369873
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... OMIM:274300
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Obesity... ORPHA:247768
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell... ORPHA:2234
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi... OMIM:601820
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism, Hypoplasia of penis ORPHA:3055
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Bardet-Biedl Syndrome 2
Obesity, External genital hypoplasia, Diabetes mellitus, Hypogonadism OMIM:615981
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Failure to thrive, Adrenal hypoplasia, Hypoplasia of th... OMIM:619151
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Increased body weight, Progressive neurologic deterioration, Hyperin... ORPHA:276608
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Depression, Amenorrhea, Premature ovarian insufficiency OMIM:619425
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Dysphagia OMIM:313200
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Childhood-onset truncal obesity, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Childhood-onset truncal obesity, Decreased response to growth hormone stimulatio... ORPHA:71526
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Mehmo Syndrome
Agitation, External genital hypoplasia, Hypoplasia of penis, Obesity, Diabetes mellitus, Cryptorc... ORPHA:85282
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Male hypogonadis... OMIM:300148
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Hypoinsulinemia, Truncal obesity OMIM:240900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Memory impairment, Depression,... ORPHA:189427
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Polyphagia, Obesity, Type II diabetes mellitus ORPHA:71529
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Anterior hypopituit... ORPHA:2235
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth, Polyphagia OMIM:620195
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Cognitive impairment, Obesity, Vaginal atresia, Hypogonadism OMIM:615989
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso... ORPHA:1501
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Peritoneal Cystic Mesothelioma
Metrorrhagia, Menorrhagia, Dyspareunia, Weight loss ORPHA:168816
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Obesity, Abnormal aggressi... ORPHA:3077
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocorn... OMIM:614170
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas... OMIM:610475
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Impulsivity, Cognitive impairment, Hypogonadism, Hy... ORPHA:398069
Aromatase Deficiency
Tall stature, Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hyperg... ORPHA:91
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
48,Xxyy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Depression, Infertility, Hypergonadotropic hypogo... ORPHA:10
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Cryptorchidism ORPHA:589905
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Ataxia-Oculomotor Apraxia Type 4
Obesity, Short attention span, Cognitive impairment ORPHA:459033
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Tall stature, Abnormal ovarian physiology, C... ORPHA:90794
Lead Poisoning
Delayed puberty, Anorexia, Decreased male libido, Memory impairment, Depression, Infertility, Oli... ORPHA:330015
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Pituitary Gigantism
Tall stature, Premature pubarche, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Insulinoma
Hyperinsulinemia, Transient global amnesia, Neoplasm of the adrenal gland, Increased body weight,... ORPHA:97279
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Truncal obesity, Irregular menstruation OMIM:615986
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased... OMIM:615954
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Memory impairment, Depression, Cognitive impairment, Hypothy... ORPHA:77296
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of... ORPHA:478
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder, Sh... OMIM:620439
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity, Polycystic ovaries, Irregular menstruation, Aggressive behavior OMIM:616831
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Wilson Disease
Depression, Increased body weight, Failure to thrive, Weight loss, Abnormality of the menstrual c... ORPHA:905
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Obesity, Inappropriate laughter ORPHA:411515
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular... OMIM:219080
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Impaired sensitivity to ... OMIM:614450
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Obesity, Cognitive impairment OMIM:612463
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Cognitive impairment, Pseudohypoparathyroidism, H... OMIM:103580
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Temple Syndrome
Maturity-onset diabetes of the young, Cryptorchidism, Decreased testicular size, Precocious puber... OMIM:616222
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Keratoconus, Corneal dystrophy, Corneal guttata, Ectopia pupillae OMIM:609141
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Oligomenorrhea, Failure to... ORPHA:528
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Agitation, Maturity-onset diabetes of the young, Hyperinsulinemia, Mat... ORPHA:324575
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Schaaf-Yang Syndrome
Polyphagia, Impulsivity, Obesity, Skin-picking, Hypogonadism, Failure to thrive in infancy, Crypt... OMIM:615547
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
48,Xxxy Syndrome
Irritability, Tall stature, Small scrotum, Azoospermia, Hypoplasia of penis, Infertility, Decreas... ORPHA:96263
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Bardet-Biedl Syndrome 17
Polydipsia, Cognitive impairment, Obesity, Hypogonadism, Micropenis OMIM:615994
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Obesity, Hyperactivity, Aggressive behavior OMIM:301013
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Pol... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl... ORPHA:276580
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Depression, Decreased testicular size, Mot... ORPHA:457240
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Pr... OMIM:615830
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... OMIM:604367
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Impulsivity, Cryptorchidism, Failure to thr... ORPHA:500055
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Prader-Willi Syndrome
Delayed puberty, Small scrotum, Adrenal insufficiency, Decreased response to growth hormone stimu... OMIM:176270
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Pituitary adenoma, A... OMIM:219090
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Dentinogenesi... OMIM:229200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Increased body weight, Progressive neurol... ORPHA:263455
Macrocephaly/Autism Syndrome
Large for gestational age, Overgrowth, Short attention span, Obesity, Penile freckling, Hydrocele... OMIM:605309
Cushing Disease
Increased circulating ACTH level, Memory impairment, Secondary amenorrhea, Depression, Emotional ... ORPHA:96253
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Lig4 Syndrome
Hypothyroidism, Failure to thrive, Type II diabetes mellitus, Amenorrhea, Cryptorchidism, Micrope... OMIM:606593
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... ORPHA:91351
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:435651
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Dementia, Small scrotum, Cryptorchidism, Hypoplasia of t... OMIM:119500
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Congenital hypothyroidism, Obesity, Diabetes mellitus, Cryptorchidism OMIM:614613
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Wolfram Syndrome 2
Diabetes insipidus, Depression, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus OMIM:604928
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Depression, Hypergonadotropic hypogonadism... OMIM:157640
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Irregular menstruation OMIM:615238
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Laurence-Moon Syndrome
Small scrotum, Obesity, Micropenis OMIM:245800
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Thyroid hypopl... ORPHA:99832
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... ORPHA:435660
Panhypophysitis
Polydipsia, Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95513
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Increased body weight, Self hugging, Abnormality of the thyroid glan... OMIM:182290
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullar... ORPHA:99889
Sheehan Syndrome
Central diabetes insipidus, Breast hypoplasia, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Wagro Syndrome
Agitation, Hypoplastic female external genitalia, Emotional lability, Low frustration tolerance, ... OMIM:612469
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Interstitial Cystitis
Abnormal labia morphology, Abnormal vagina morphology, Depression, Dyspareunia, Abnormality of th... ORPHA:37202
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Decreased ... ORPHA:94086
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level OMIM:603233
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Increased body weight, Oligomenorrhea, Failure to thrive, Dysmenorrhea, Polycyst... ORPHA:264580
Adiposis Dolorosa
Hypothyroidism, Obesity, Depression, Memory impairment ORPHA:36397
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Micropenis, Aggressive behavior OMIM:300860
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Pseudohypoparathyroidism Type 1C
Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:79444
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Wolfram Syndrome 1
Diabetes insipidus, Hypothyroidism, Dysphagia, Diabetes mellitus, Testicular atrophy OMIM:222300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon st... ORPHA:79644
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries, Irregular menstruation ORPHA:79240
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... OMIM:618419
Carney Complex
Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Pituitar... ORPHA:1359
Ataxia-Oculomotor Apraxia 4
Obesity, Cognitive impairment OMIM:616267
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Fasting... ORPHA:2298
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... ORPHA:652
Klippel-Trénaunay Syndrome
Tall stature, Abnormality of the menstrual cycle ORPHA:90308
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Mody
Large for gestational age, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal circulating insulin c... ORPHA:552
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypopl... ORPHA:3157
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Pseudohypoparathyroidism Type 1A
Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy... ORPHA:79443
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder, Crypto... OMIM:117550
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Autosomal Recessive Spastic Paraplegia Type 11
Memory impairment, Emotional lability, Short attention span, Obesity, Dysphagia, Dementia, Overwe... ORPHA:2822
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Obesity, Abnormality o... ORPHA:3138
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Obesity, Vag... OMIM:209900
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Steinert Myotonic Dystrophy
Impotence, Cognitive impairment, Aggressive behavior, Decreased response to growth hormone stimul... ORPHA:273
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Dysphagia OMIM:300322
Bardet-Biedl Syndrome
Hydrometrocolpos, Childhood-onset truncal obesity, Aplasia/Hypoplasia of the vagina, Hypoplasia o... ORPHA:110
Bardet-Biedl Syndrome 20
Obesity, Male hypogonadism, Micropenis, Bilateral cryptorchidism OMIM:619471
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Secondary amenorrhea, ... ORPHA:99413
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Secondary amenorrhea, ... ORPHA:881
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Secondary amenorrhea, ... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Reduced bone mineral density, Secondary amenorrhea, ... ORPHA:99226
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Disproportionate tall stature, Cryptorchidism, Test... ORPHA:3063
Malakoplakia
Prostate neoplasm, Orchitis, Abnormality of the menstrual cycle ORPHA:556
African Trypanosomiasis
Abnormality of renin-angiotensin system, Irritability, Abnormality of the endocrine system, Infer... ORPHA:3385
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Decreased body weight, Clitoral hypoplasia, Hypoplasia of the ... OMIM:261540
Peters Plus Syndrome
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congenital hypothyroidism, Cryptorchi... ORPHA:709
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Cognitive impairment, Decreased circulatin... ORPHA:64
Hellp Syndrome
Increased body weight ORPHA:244242

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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