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Gene: Mkrn3 MGI:2181178

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Gene Summary

Name:
makorin, ring finger protein, 3
Synonyms:
D7H15S9-1,  Zfp127

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Mkrn3em1(IMPC)Tcp HOM   Early adult 1.92×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

45 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Mkrn3 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 Mkrn3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346

The table below shows human diseases predicted to be associated to Mkrn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... OMIM:616185
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... OMIM:300511
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Obesity, Oligomenorrhea OMIM:604931
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
46,Xy Sex Reversal 11
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Ovarian Dysgenesis 8
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... OMIM:618187
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Obesity, Increased circulating gonadotropin le... ORPHA:759
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Androgen Insensitivity Syndrome
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... OMIM:300068
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level, Sex reversal OMIM:613080
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Pituitary Gigantism
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase... ORPHA:99725
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea OMIM:612847
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... OMIM:614736
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Mccune-Albright Syndrome
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... OMIM:174800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... OMIM:614840
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Small for gestational age, Increased circulating gonadot... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone le... ORPHA:90795
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty ORPHA:280195
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... ORPHA:180229
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... ORPHA:163971
Perrault Syndrome 4
Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uter... OMIM:615300
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Long peni... OMIM:262190
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Gordon Holmes Syndrome
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... OMIM:212840
Temple Syndrome
Precocious puberty, Decreased testicular size, Small for gestational age, Maturity-onset diabetes... OMIM:616222
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Elevated ... ORPHA:3044
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... OMIM:609441
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Dystonia 28
Hypothyroidism, Precocious puberty ORPHA:589618
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... OMIM:102200
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... ORPHA:261534
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Ollier Disease
Precocious puberty ORPHA:296
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Clitoral hypertrophy, Overgrowth of external gen... ORPHA:528
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... OMIM:614962
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398069
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Supernumerary nipple, Cryptorchidism OMIM:619243
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism ORPHA:3306
Myotonic Dystrophy 2
Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level, Oligospermia,... OMIM:602668
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... ORPHA:572333
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Severe failure to thrive, Pancreatic islet-cell... OMIM:246200
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the pancreas, Neoplasm of the scrotum, Metrorrhagia,... ORPHA:370348
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Silver-Russell Syndrome
Hyperhidrosis, Precocious puberty, Decreased testicular size, Cachexia, Abnormal vagina morpholog... ORPHA:813
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:146110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... ORPHA:99330
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Prader-Willi Syndrome
Primary amenorrhea, Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased... OMIM:176270
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:614858
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... OMIM:610628
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... ORPHA:91347
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Slc35A2-Cdg
Failure to thrive in infancy, Precocious puberty, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
19P13.12 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Hypospadias, Cryptorchidism, Obesity ORPHA:254346
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... ORPHA:300373
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Delayed puberty, Obesity, Failure to thrive in infancy ORPHA:819
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty ORPHA:447980
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating lu... OMIM:618419
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Delayed puberty, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo... OMIM:612702
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... ORPHA:2232
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... OMIM:202110
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Precocious puberty, Large for gestational age ORPHA:261652
Seckel Syndrome 10
Diabetes mellitus, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated c... OMIM:617253
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:179494
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hyperhidrosis, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:96182
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pi... ORPHA:95496
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ... ORPHA:251937
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... ORPHA:8
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Obesity, Primary amenorrhea OMIM:600955
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Sex reversal OMIM:613743
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Carpenter Syndrome 1
External genital hypoplasia, Precocious puberty, Obesity, Cryptorchidism OMIM:201000
9P13 Microdeletion Syndrome
External genital hypoplasia, Precocious puberty ORPHA:324313
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... ORPHA:769
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Phakomatosis Pigmentokeratotica
Hyperhidrosis, Precocious puberty, Pheochromocytoma, Cryptorchidism ORPHA:2874
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormality of female external genitalia, Truncal obesity ORPHA:2637
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... ORPHA:3411
Frasier Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea OMIM:136680
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Type I diabetes mellitus OMIM:619269
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Type II diabetes mellitus, Hypospadias, Precocious puberty, Truncal obesity OMIM:210720
Bainbridge-Ropers Syndrome
Failure to thrive, Precocious puberty, Supernumerary nipple, Cryptorchidism OMIM:615485
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Absence of secondary sex characteristics, Dec... ORPHA:432
Myhre Syndrome
Precocious puberty, Hypogonadism, External genital hypoplasia, Epispadias, Hypospadias, Cryptorch... ORPHA:2588
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Micropenis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96092
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Alexander Disease
Hypothyroidism, Hyperhidrosis, Precocious puberty, Failure to thrive, Diabetes mellitus ORPHA:58
Ppoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97278
Angelman Syndrome
Precocious puberty in females, Obesity, Delayed menarche ORPHA:72
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Chromosome Xq26.3 Duplication Syndrome
Hyperhidrosis, Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism,... OMIM:300942
Tuberous Sclerosis 1
Hypothyroidism, Precocious puberty, Adenoma sebaceum OMIM:191100
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Precocious puberty ORPHA:845
Grfoma
Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Incre... ORPHA:97261
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Precocious puberty, Hypoparathyroidism ORPHA:369837
Lig4 Syndrome
Hypothyroidism, Failure to thrive, Cryptorchidism, Micropenis, Amenorrhea OMIM:606593
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:90695
Somatostatinoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97283
Hypophosphatemic Rickets
Precocious puberty, Hyperthyroidism, Parathyroid hyperplasia, Elevated circulating parathyroid ho... ORPHA:437
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ... ORPHA:91355
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Vipoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97282
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Thyroid hypop... ORPHA:672
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Kabuki Syndrome
Precocious puberty, Hypoplasia of penis, Failure to thrive, Hypospadias, Cryptorchidism, Obesity ORPHA:2322
Peritoneal Cystic Mesothelioma
Weight loss, Metrorrhagia, Dyspareunia, Menorrhagia ORPHA:168816
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Precocious puberty, Cholelithiasis OMIM:301066
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Labial hypertrophy, Cryptorchidism ORPHA:96191
Tuberous Sclerosis 2
Hypothyroidism, Precocious puberty, Adenoma sebaceum OMIM:613254
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende... ORPHA:363958
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulation test, Shawl... ORPHA:268261
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty, Micropenis ORPHA:1934
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased glucagon le... ORPHA:913
Glucagonoma
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... ORPHA:97280
Aicardi Syndrome
Delayed puberty, Precocious puberty ORPHA:50
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Abnormal external genitalia, ... OMIM:158330
Aicardi Syndrome
Dilated third ventricle, Precocious puberty OMIM:304050
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Bifid scrotum, Bicornuate uterus, Failure to thrive, Hyp... OMIM:270400
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Irregular menstruation OMIM:615238
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty, Failure to thrive OMIM:619950
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Faundes-Banka Syndrome
Failure to thrive, Delayed puberty, Premature thelarche, Cryptorchidism OMIM:619376
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss, Increased circulating ACTH level, Increased se... ORPHA:97287
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... ORPHA:37202
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Hypothyroidism, Increased circulating prolactin concentrat... ORPHA:438213
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Delayed puberty, Cryptorchidism, Abnormality of the endocri... ORPHA:636
Wolf-Hirschhorn Syndrome
Precocious puberty, Small for gestational age, Failure to thrive, Hypospadias, Aplasia of the ute... OMIM:194190
Lead Poisoning
Decreased female libido, Small for gestational age, Infertility, Decreased circulating osteocalci... ORPHA:330015
Floating-Harbor Syndrome
Precocious puberty, Small for gestational age, Congenital posterior urethral valve, Epididymal cy... ORPHA:2044
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:95494
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Sponastrime Dysplasia
Small for gestational age, Hypothyroidism, Hypospadias, Precocious puberty ORPHA:93357
Rubinstein-Taybi Syndrome 1
Premature thelarche, Shawl scrotum, Small for gestational age, Bilateral cryptorchidism, Failure ... OMIM:180849
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Williams Syndrome
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Type II di... ORPHA:904
Somatomammotropinoma
Hyperhidrosis, Increased circulating prolactin concentration, Impotence, Anterior hypopituitarism... ORPHA:314769
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Precocious puberty, Pheochromocytoma, Elevated circulating parathyroid horm... ORPHA:97685
Wilson Disease
Failure to thrive, Abnormality of the menstrual cycle, Weight loss, Increased body weight ORPHA:905
Acromegaly
Wide penis, Hyperhidrosis, Impotence, Anterior hypopituitarism, Long penis, Diabetes mellitus, Pi... ORPHA:963
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Congenital hypothyroidism, Micropenis, Anoperineal fistula OMIM:147920
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hyperinsulinemia, Gonadoblastoma, Secondary amenorrhea, Prematur... ORPHA:99226
Alström Syndrome
Oligospermia, Decreased circulating T4 concentration, Delayed menarche, Type II diabetes mellitus... ORPHA:64
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Duodenal Neuroendocrine Tumor
Increased circulating ACTH level, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, E... ORPHA:100076
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Malakoplakia
Abnormality of the menstrual cycle, Prostate neoplasm, Orchitis ORPHA:556
African Trypanosomiasis
Impotence, Weight loss, Abnormality of circulating cortisol level, Infertility, Abnormality of th... ORPHA:3385
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hypoplasia of the thymus ORPHA:906
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... ORPHA:79318
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle ORPHA:2346
Hypermobile Ehlers-Danlos Syndrome
Decreased fertility, Abnormality of the menstrual cycle, Cystocele ORPHA:285

Histopathology

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

There is no histopathology data for Mkrn3

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 Mkrn3.

No publications found that use IMPC mice or data for Mkrn3.

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MGI Allele Allele Type Produced
Mkrn3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mkrn3em1(IMPC)Tcp Intra-exon deletion Mice

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