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Gene: Tac2 MGI:98476

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tachykinin 2
Synonyms:
neuropeptide K,  neurokinin A,  neurokinin 2,  neuromedin L,  substance K,  neurokinin alpha

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tac2 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 Tac2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432

The table below shows human diseases predicted to be associated to Tac2 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 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
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
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Obesity, Infertility OMIM:604931
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Tall stature, Gonadal dysgenesis, Abnormal female exter... OMIM:400044
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Obesity, Hypogonadism, Primary amenorrhea, Mic... OMIM:614962
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Stre... ORPHA:168563
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Tall stature, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Absence of pubertal development, Obesity, Primary amen... OMIM:610628
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Anterior hypopituit... ORPHA:2235
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Hypogonadism, Cryptorchidism, Truncal obesity ORPHA:261483
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Polycystic ovaries, Decreased fertility, Hypogonadotropic hyp... ORPHA:1643
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal testis morphology, Obesity, Hypogonadism, Decreased fertility ORPHA:2233
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... OMIM:264300
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... ORPHA:99429
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Invasive Mole
Menometrorrhagia ORPHA:99925
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Precocious Puberty, Central, 2
Premature pubarche, Premature thelarche OMIM:615346
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Perrault Syndrome 5
Gonadal dysgenesis, Primary amenorrhea, High palate, Hypergonadotropic hypogonadism OMIM:616138
Bardet-Biedl Syndrome 2
External genital hypoplasia, Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell... ORPHA:2234
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
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Bardet-Biedl Syndrome 16
Obesity, External genital hypoplasia, Hypogonadism OMIM:615993
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Frasier Syndrome
Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea OMIM:136680
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Pituitary Gigantism
Tall stature, Premature pubarche, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus... ORPHA:2183
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Obesity, Female sexual dysfunction ORPHA:2073
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Obesity... ORPHA:247768
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Trisomy X
Secondary amenorrhea, Premature ovarian insufficiency, Precocious puberty, Tall stature ORPHA:3375
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, High palate, Primary amenorrhea, Cryptorchidism, Micropen... OMIM:612702
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Hypogonadotropic hypogonadism ORPHA:177910
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Aromatase Deficiency
Male infertility, Tall stature, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hyperg... ORPHA:91
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism, Hypoplasia of penis ORPHA:3055
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Cleft palate, Ma... OMIM:300148
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Breast hypoplasia, Abno... ORPHA:785
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cleft palate, Primary amenorrhea, Cryptorchidis... OMIM:614880
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Oligomenorrhea, Proportion... ORPHA:528
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating... OMIM:158330
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis, Large for ges... OMIM:601820
Hemochromatosis, Type 3
Amenorrhea, Hypogonadotropic hypogonadism, Impotence OMIM:604250
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Diabetes mellitus, Mic... ORPHA:85282
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Bifid uvula, ... ORPHA:254516
Temple Syndrome
Maturity-onset diabetes of the young, High palate, Cryptorchidism, Precocious puberty, Decreased ... OMIM:616222
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Infertility, Oligozoospermi... ORPHA:786
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:244200
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Tall stature, Abnormal ovarian physiology, C... ORPHA:90794
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of... ORPHA:478
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... OMIM:604367
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, High palate ORPHA:254531
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 54
Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Peritoneal Cystic Mesothelioma
Metrorrhagia, Menorrhagia, Dyspareunia, Weight loss ORPHA:168816
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l... ORPHA:435660
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased response to growth hormone stimulatio... ORPHA:3464
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, High palate, Precocious puberty, Pyloric stenosis, Obesity,... ORPHA:96184
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polycystic ovaries, Irregular menstruation OMIM:616831
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Long penis, High palate, Precocious puberty, Diabetic ket... OMIM:262190
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, High palate, Precocious puberty, Hypogonadism, Cryptorchidism ORPHA:3306
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Hypoinsulinemia, Truncal obesity OMIM:240900
Familial Glucocorticoid Deficiency
Tall stature, Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Congenital... ORPHA:361
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Premature ovarian insufficiency, Obesity OMIM:618124
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Vaginal atresia, Hypogonadism OMIM:615989
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
48,Xxyy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea ORPHA:2975
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Precocious puberty, Weight loss, Metrorrhagia, Neopla... ORPHA:370348
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71526
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula ORPHA:3016
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Type II diabetes mellitus, Cry... ORPHA:2377
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Increased circulating dehydroepiandrost... OMIM:201810
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Decreased body weight, Cleft palate OMIM:300958
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anteriorly placed anus, Anterior hypopituitarism ORPHA:280195
Lig4 Syndrome
Hypothyroidism, Failure to thrive, Type II diabetes mellitus, Amenorrhea, Cryptorchidism, Micrope... OMIM:606593
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Polycy... ORPHA:79083
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Schaaf-Yang Syndrome
Obesity, Hypogonadism, Failure to thrive in infancy, Cryptorchidism, Micropenis OMIM:615547
Dystonia 28
Hypothyroidism, Precocious puberty ORPHA:589618
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Mccune-Albright Syndrome
Increased serum testosterone level, Macroorchidism, Abnormal testis morphology, Precocious pubert... ORPHA:562
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati... OMIM:110100
Interstitial Cystitis
Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph... ORPHA:37202
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Macroglossia, Impaired s... OMIM:614450
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:71529
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Irregular menstruation OMIM:615238
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Externa... OMIM:176270
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Irregular menstruation OMIM:615986
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple, Anal atresia OMIM:619243
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Laurence-Moon Syndrome
Small scrotum, Obesity, Micropenis OMIM:245800
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Obesity... OMIM:103580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Increased body weight, Esophageal varix, Oligomenorrhea, Failure to thrive, Dysm... ORPHA:264580
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Carney Complex
Neoplasm of the stomach, Tall stature, Neoplasm of the pancreas, Ductal carcinoma in situ, Increa... ORPHA:1359
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Mccune-Albright Syndrome
Intestinal polyposis, Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulatin... OMIM:174800
48,Xxxy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Obesity, ... ORPHA:96263
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, High palate, Abnormality of the ovary, Nephrogenic di... OMIM:209900
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Lead Poisoning
Delayed puberty, Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abn... ORPHA:330015
Wolfram Syndrome 2
Peptic ulcer, Diabetes insipidus, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus OMIM:604928
Hermansky-Pudlak Syndrome 6
Perineal fistula, Anal atresia, Endometriosis OMIM:614075
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries, Irregular menstruation ORPHA:79240
Ollier Disease
Precocious puberty ORPHA:296
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, High palate, Macroorchidism OMIM:300055
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, Long penis, Precocious puberty,... OMIM:246200
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Large for gestational age, Tall stature, Overgrowth, Unilateral cryptorchidism ORPHA:137634
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, P... ORPHA:813
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism OMIM:615633
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyp... ORPHA:276608
Bardet-Biedl Syndrome 17
Obesity, Micropenis, Hypogonadism OMIM:615994
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Wilson Disease
Failure to thrive, Increased body weight, Weight loss, Abnormality of the menstrual cycle ORPHA:905
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal atr... ORPHA:3138
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Burkitt Lymphoma
Intestinal obstruction, Abnormality of the ovary ORPHA:543
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Sheehan Syndrome
Central diabetes insipidus, Breast hypoplasia, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Leopard Syndrome 1
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cleft palate, Cryptorchi... OMIM:151100
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistula, Esophagitis, Tracheoeso... ORPHA:2538
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P... ORPHA:95513
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Carpenter Syndrome
Obesity, External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism ORPHA:65759
Bardet-Biedl Syndrome
Hydrometrocolpos, Childhood-onset truncal obesity, Aganglionic megacolon, Aplasia/Hypoplasia of t... ORPHA:110
Hypoplasminogenemia
Duodenal ulcer, Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Overgrowth, Anal atresia, Precocious puberty, Failure to thrive ORPHA:261652
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Klippel-Trénaunay Syndrome
Tall stature, Abnormality of the menstrual cycle ORPHA:90308
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Obesity, Pituitary adenoma, Increased circulating ACTH level, Abdominal obesity OMIM:219090
Orofaciodigital Syndrome Type 4
High, narrow palate, Rectovaginal fistula, Monorchism, Perineal fistula, Anal atresia, Decreased ... ORPHA:2753
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Increas... ORPHA:2298
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Hypoplasia of the ovary, Intestinal malrotation, Decreased testicular size, Ab... OMIM:619321
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, High palate, Decreased testicular size, Obesity, Hypogonadism ORPHA:85293
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Genitourinary And/Or Brain Malformation Syndrome
Ileal atresia, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, C... OMIM:618820
19P13.12 Microdeletion Syndrome
Hypospadias, Hypothyroidism, Precocious puberty, Obesity, Cleft palate, Cryptorchidism ORPHA:254346
Macrocephaly/Autism Syndrome
Large for gestational age, Overgrowth, High palate, Obesity, Penile freckling, Hydrocele testis OMIM:605309
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis OMIM:300860
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Esophageal atresia, Diabetes insipidus, Hypoplasia of penis, Anterior pituitar... ORPHA:3157
Bardet-Biedl Syndrome 20
Obesity, Male hypogonadism, Micropenis, Bilateral cryptorchidism OMIM:619471
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Bifid u... ORPHA:2588
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
19P13.3 Microduplication Syndrome
Precocious puberty, Cleft palate, Unilateral cryptorchidism ORPHA:447980
Malakoplakia
Prostate neoplasm, Neoplasm of the rectum, Neoplasm of the colon, Orchitis, Abnormality of the me... ORPHA:556
Smith-Magenis Syndrome
Delayed puberty, Precocious puberty, Hypothyroidism, Obesity, Cleft palate, Failure to thrive in ... ORPHA:819
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Cushing Disease
Secondary amenorrhea, Increased urinary cortisol level, Increased body weight, Abdominal obesity,... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary ... ORPHA:99889
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, High palate, Cryptorchidism, Obesity, Hypogonadism, Small scrotum, D... OMIM:614231
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Decreased ... ORPHA:94086
Radio-Tartaglia Syndrome
Precocious puberty, Obesity, High palate, High, narrow palate OMIM:619312
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, High palate, Furrowed tongu... ORPHA:769
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon st... ORPHA:79644
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive in infancy, Pre... ORPHA:356961
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increase... OMIM:615830
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Overgrowth OMIM:163200
Mody
Large for gestational age, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal circulating insulin c... ORPHA:552
Carpenter Syndrome 1
External genital hypoplasia, High palate, Precocious puberty, Obesity, Cryptorchidism OMIM:201000
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Increased body weight, Abnormality of the thyroid gland OMIM:182290
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Anteriorly placed anus, Rectovaginal fistula OMIM:608980
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia, High palate ORPHA:324313
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperinsulinemic hypoglycemia... ORPHA:263455
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity OMIM:619269
Sotos Syndrome
Narrow palate, Tall stature, High, narrow palate, Increased body weight, Overgrowth, High palate,... OMIM:117550
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus, Bifid uvula, Villous atrophy ORPHA:79328
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal female external genitalia morphology, Truncal obesity ORPHA:2637
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, High, narrow palate, Hypospadias, Esophagi... ORPHA:96182
Bainbridge-Ropers Syndrome
High palate, Precocious puberty, Failure to thrive, Intestinal malrotation, Disproportionate tall... OMIM:615485
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Type II diabetes mellitus, Hypospadias OMIM:210720
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism ORPHA:2874
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the ga... ORPHA:96092
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, High, narrow palate, Secondar... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, High, narrow palate, Secondar... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, High, narrow palate, Secondar... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, High, narrow palate, Secondar... ORPHA:99226
Baller-Gerold Syndrome
Rectovaginal fistula, Perineal fistula, High palate, Anal atresia, Bifid uvula, Cleft palate, Ant... OMIM:218600
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, Hypospadias, Macroglossia, High palate, Central hypothyr... ORPHA:798
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhypopituitarism, An... OMIM:146510
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, High palate, Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insul... ORPHA:96191
Alexander Disease
High palate, Hypothyroidism, Failure to thrive, Precocious puberty, Diabetes mellitus ORPHA:58
Kabuki Syndrome
Hypospadias, Hypoplasia of penis, High palate, Precocious puberty, Failure to thrive, Obesity, Cl... ORPHA:2322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Obesity, Cleft palate, Cholelithiasis OMIM:301066
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypoparathyroidism, High, narrow palate ORPHA:369837
Tuberous Sclerosis 1
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:191100
Pallister-Hall Syndrome
Thyroid hypoplasia, Bifid uvula, Small scrotum, Central adrenal insufficiency, Hydrometrocolpos, ... ORPHA:672
Tay-Sachs Disease
Precocious puberty ORPHA:845
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nip... OMIM:181450
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Pr... OMIM:270400
Early Infantile Epileptic Encephalopathy
Precocious puberty, Failure to thrive, Cleft palate, Micropenis ORPHA:1934
Aicardi Syndrome
Delayed puberty, Intestinal polyposis, Precocious puberty, Cleft palate, Hiatus hernia ORPHA:50
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Intestinal malrotation, Volvulus, Cryptorchidism, Hiatus hernia OMIM:616682
Tuberous Sclerosis 2
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:613254
Tolchin-Le Caignec Syndrome
Precocious puberty, Submucous cleft hard palate, High palate OMIM:618971
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Hypothyr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Hypothyr... ORPHA:363958
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Cleft soft palate, Ankyloglossia, Precocious puberty, Failure to thrive, Cle... OMIM:619950
Neurofibromatosis Type 1
Delayed puberty, Tall stature, Abnormality of the endocrine system, Pheochromocytoma, Gastrointes... ORPHA:636
Aicardi Syndrome
Precocious puberty, Cleft palate, Hiatus hernia OMIM:304050
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormality of the endocrine system, Infertility, Impote... ORPHA:3385
Williams Syndrome
Peptic ulcer, Rectal prolapse, Cholelithiasis, Hypoplasia of penis, Tracheoesophageal fistula, Hy... ORPHA:904
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Failure to thrive, Cleft palate, Malrotat... OMIM:194190
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Decreased circulating T4 concentration, In... ORPHA:64
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism, Sma... ORPHA:2044
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Hypothyroidism, Precocious puberty, Uterine prolapse, Abnorm... ORPHA:438213
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty, Small for gestational age, Hypospadias ORPHA:93357
Hellp Syndrome
Increased body weight ORPHA:244242
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gastrointestin... ORPHA:97685

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 Tac2

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 Tac2.

No publications found that use IMPC mice or data for Tac2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tac2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tac2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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