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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 Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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 pubarche, Premature thelarche 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
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:176400
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Decreased bod... OMIM:616185
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Premature Ovarian Failure 15
Oligomenorrhea, Decreased cirrculating antimullerian hormone circulation, Elevated circulating fo... OMIM:618096
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Premature Ovarian Failure 17
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Decrea... OMIM:619146
Precocious Puberty, Central, 2
Premature pubarche, Premature thelarche OMIM:615346
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300511
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... OMIM:612964
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
46,Xy Sex Reversal 1
Male pseudohermaphroditism, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male,... OMIM:400044
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, El... OMIM:619834
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... OMIM:619203
Premature Ovarian Failure 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Elevated circulating follicle stimulati... OMIM:615724
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Cortisone Reductase Deficiency 1
Oligomenorrhea, Infertility, Obesity, Precocious puberty OMIM:604931
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619938
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... OMIM:273250
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Primary amenorrhea, ... OMIM:618187
Premature Ovarian Failure 10
Hypoplasia of the ovary, Decreased testicular size, Premature ovarian insufficiency, Primary amen... OMIM:612885
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Non Rare In Europe: Central Precocious Puberty
Obesity, Isosexual precocious puberty, Hypothalamic hamartoma, Increased circulating gonadotropin... ORPHA:759
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hypopituitarism, Increased circulating prolactin concentration, Decreased respons... ORPHA:91354
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Female external geni... OMIM:300068
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... 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
Delayed puberty, Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased fertility, Absence... ORPHA:2410
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Methemoglobinemia And Ambiguous Genitalia
Male pseudohermaphroditism, Micropenis, Ambiguous genitalia, Decreased circulating dehydroepiandr... OMIM:250790
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperprolactinemia
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia OMIM:615555
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Pituitary Gigantism
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... ORPHA:99725
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Complete Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Increased serum testosterone level, Ab... ORPHA:99429
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Decreased response to growth hormone stimulat... ORPHA:254516
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... OMIM:614736
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Hypogona... OMIM:614840
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... OMIM:174800
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Small for gestational age, Hypogonadism, Increased cir... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Decreased testicular size, Cryptorchidism, Retractile testis, Hypergonadotropic hypogonadism, Fai... ORPHA:163976
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Testicular adrenal rest tumor, Increased ser... ORPHA:90795
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty ORPHA:280195
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Polyembryoma
Increased serum testosterone level, Isosexual precocious puberty, Increased serum serotonin, Abno... ORPHA:180229
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... ORPHA:168563
Sim1-Related Prader-Willi-Like Syndrome
Primary amenorrhea, Central hypothyroidism, Small pituitary gland, Hypothalamic luteinizing hormo... ORPHA:398079
Perrault Syndrome 4
Oligomenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, Hyp... OMIM:615300
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
X-Linked Intellectual Disability, Cilliers Type
Decreased testicular size, Cryptorchidism, Decreased serum testosterone concentration, Hypergonad... ORPHA:163971
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... OMIM:300845
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Clitoral hypertrophy, Hyperinsulinemia, Diabetic ketoacidosis, Long pe... OMIM:262190
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, G... ORPHA:347
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Temple Syndrome
Decreased testicular size, Cryptorchidism, Small for gestational age, Overweight, Obesity, Trunca... OMIM:616222
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98754
Gordon Holmes Syndrome
Oligomenorrhea, Primary amenorrhea, Absence of pubertal development, Secondary amenorrhea, Hypogo... OMIM:212840
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Obesity, Abnormal calcium-phosphate re... ORPHA:457059
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimulating hormone l... ORPHA:3044
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177904
Acromesomelic Dysplasia 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:609441
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:177901
Woolly Hair Nevus
Precocious puberty ORPHA:79414
49,Xxxyy Syndrome
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Eunuchoi... ORPHA:261534
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... ORPHA:263458
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Decreased body weight, Precocious puberty OMIM:300958
Pituitary Adenoma 1, Multiple Types
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:102200
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... ORPHA:243
Prader-Willi-Like Syndrome
Delayed puberty, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal i... ORPHA:398073
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Maturity-onset diabetes of t... ORPHA:96184
Prader-Willi Syndrome
Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central adrenal insufficiency, Sma... ORPHA:739
Ollier Disease
Precocious puberty ORPHA:296
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty i... ORPHA:528
Leptin Deficiency Or Dysfunction
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Decreased serum leptin, ... OMIM:614962
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Cryptorchidism, Hypogonadism, Precocious puberty ORPHA:3306
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Abnorm... ORPHA:361
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... ORPHA:52901
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:95619
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Cryptorchidism, Precocious puberty OMIM:619243
Magel2-Related Prader-Willi-Like Syndrome
Primary amenorrhea, Central hypothyroidism, Small pituitary gland, Hypothalamic luteinizing hormo... ORPHA:398069
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Oligospermia, Type II diabetes mellitus,... OMIM:602668
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Mccune-Albright Syndrome
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... ORPHA:562
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Overweight, Hypothyroidi... OMIM:300888
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... OMIM:616030
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Premature ovarian insufficienc... ORPHA:572333
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... OMIM:301033
Donohue Syndrome
Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Ovarian cyst, Severe f... OMIM:246200
Peripheral Primitive Neuroectodermal Tumor
Uterine neoplasm, Neoplasm of the pancreas, Pancreatitis, Metrorrhagia, Neoplasm of the scrotum, ... ORPHA:370348
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea, Obesity OMIM:184700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... ORPHA:90794
Silver-Russell Syndrome
Decreased testicular size, Cryptorchidism, Obesity, Failure to thrive in infancy, Cachexia, Prema... ORPHA:813
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... OMIM:146110
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... ORPHA:99330
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Prader-Willi Syndrome
Oligomenorrhea, Delayed puberty, Cryptorchidism, Micropenis, External genital hypoplasia, Primary... OMIM:176270
Isolated Splenogonadal Fusion
Testicular mass, Bilateral cryptorchidism, Increased circulating gonadotropin level, Abnormal pen... ORPHA:457083
Prolactinoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:2965
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Obesity, Decreas... ORPHA:2235
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Diabetes mellitus, Hyp... OMIM:610628
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased c... OMIM:614839
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Absence of sec... ORPHA:785
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Fused l... ORPHA:95699
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive in infancy, Pre... ORPHA:356961
19P13.12 Microdeletion Syndrome
Cryptorchidism, Precocious puberty, Hypothyroidism, Hypospadias, Obesity ORPHA:254346
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Hyperpituitarism, Hypogonadism, Increased circulating prolactin concentration, Ne... ORPHA:91351
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty ORPHA:447980
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Smith-Magenis Syndrome
Delayed puberty, Precocious puberty, Failure to thrive in infancy, Hypothyroidism, Obesity ORPHA:819
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Micropenis, Labial hypoplasia, Precocious puberty OMIM:620073
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Failure to thrive, Precocious puberty ORPHA:261652
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland, Hypogonad... OMIM:612702
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating follicle stimulating hormone level, Hypoplasia of... OMIM:618419
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... ORPHA:66628
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... OMIM:202110
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Seckel Syndrome 10
Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Elevated circulating ... OMIM:617253
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Cryptorchidism, Decreased response to growth hormone stimulation test,... ORPHA:96182
Radio-Tartaglia Syndrome
Obesity, Precocious puberty OMIM:619312
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... ORPHA:179494
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Primary amenorrhea, Diabetes insipidus, Hypo... ORPHA:95496
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Precocious puberty ORPHA:163681
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... ORPHA:8
Gangliocytoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:251937
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus, Irregular menstruation, Female inferti... OMIM:110100
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Sex reversal, Adrenocorticotropic hormone excess OMIM:613743
Aromatase Deficiency
Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism, Hypergonadotropic hypogonadism OMIM:613546
Proprotein Convertase 1/3 Deficiency
Primary amenorrhea, Hypoinsulinemia, Hypogonadotropic hypogonadism, Decreased circulating cortiso... OMIM:600955
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Carpenter Syndrome 1
Obesity, Cryptorchidism, External genital hypoplasia, Precocious puberty OMIM:201000
9P13 Microdeletion Syndrome
External genital hypoplasia, Precocious puberty ORPHA:324313
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95512
Panhypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95513
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Increased pineal volume, Clitoral hypertrophy, Fasting hyperi... ORPHA:769
Pituitary Apoplexy
Oligomenorrhea, Hypopituitarism, Elevated circulating growth hormone concentration, Increased cir... ORPHA:95613
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Phakomatosis Pigmentokeratotica
Pheochromocytoma, Cryptorchidism, Hyperhidrosis, Precocious puberty ORPHA:2874
Pallister-Hall Syndrome
Thyroid dysgenesis, Cryptorchidism, Adrenal hypoplasia, Micropenis, Decreased testicular size, De... OMIM:146510
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Abnormality of female external genitalia, Precocious puberty ORPHA:2637
Fibrous Dysplasia Of Bone
Hyperpituitarism, Elevated circulating growth hormone concentration, Diabetes mellitus, Increased... ORPHA:249
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... ORPHA:280356
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... ORPHA:3411
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Type I diabetes mellitus, Precocious puberty OMIM:619269
Bainbridge-Ropers Syndrome
Supernumerary nipple, Cryptorchidism, Failure to thrive, Precocious puberty OMIM:615485
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Type II diabetes mellitus, Precocious puberty, Hypospadias OMIM:210720
Myhre Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Epispadias, Abnormal penis morphology,... ORPHA:2588
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Nodular goiter, Type I diabetes mellitus, Premature thelarche ORPHA:371428
Insulin-Like Growth Factor I Deficiency
Elevated circulating growth hormone concentration, Decreased body weight, Decreased serum insulin... OMIM:608747
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Micropenis, Precocious puberty ORPHA:96092
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Premature thelarche, Hypothyroidism OMIM:616878
Alexander Disease
Diabetes mellitus, Failure to thrive, Hyperhidrosis, Hypothyroidism, Precocious puberty ORPHA:58
Multiple Endocrine Neoplasia, Type Iv
Elevated circulating growth hormone concentration, Pancreatic endocrine tumor, Hashimoto thyroidi... OMIM:610755
Angelman Syndrome
Obesity, Delayed menarche, Precocious puberty in females ORPHA:72
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Ppoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97278
Chromosome Xq26.3 Duplication Syndrome
Hypopituitarism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:300942
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Precocious puberty ORPHA:845
Tuberous Sclerosis 1
Adenoma sebaceum, Precocious puberty, Hypothyroidism OMIM:191100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypoparathyroidism, Precocious puberty ORPHA:369837
Grfoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97261
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Decreased response to growth hormone... ORPHA:90695
Hypophosphatemic Rickets
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyp... ORPHA:437
Somatostatinoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97283
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... OMIM:131100
Sheehan Syndrome
Oligomenorrhea, Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breas... ORPHA:91355
Resistance To Thyrotropin-Releasing Hormone Syndrome
Goiter, Overweight, Increased circulating prolactin concentration, Decreased circulating T4 conce... ORPHA:99832
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Pallister-Hall Syndrome
Hypopituitarism, Ambiguous genitalia, Central adrenal insufficiency, Adrenocorticotropic hormone ... ORPHA:672
Vipoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97282
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Kabuki Syndrome
Cryptorchidism, Precocious puberty, Hypoplasia of penis, Failure to thrive, Hypospadias, Obesity ORPHA:2322
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Weight loss, Menorrhagia ORPHA:168816
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... OMIM:615962
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Cholelithiasis, Precocious puberty OMIM:301066
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Precocious puberty ORPHA:96191
Koolen-De Vries Syndrome Due To A Point Mutation
Small for gestational age, Cryptorchidism, Slender build, Hypothyroidism, Decreased response to g... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Small for gestational age, Cryptorchidism, Slender build, Hypothyroidism, Decreased response to g... ORPHA:363958
Tuberous Sclerosis 2
Adenoma sebaceum, Precocious puberty, Hypothyroidism OMIM:613254
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... ORPHA:64739
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Shawl scrotum, Cryptorchidism, Micropenis, Failure to thrive in infanc... ORPHA:268261
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Early Infantile Epileptic Encephalopathy
Micropenis, Failure to thrive, Precocious puberty ORPHA:1934
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... ORPHA:913
Glucagonoma
Elevated circulating growth hormone concentration, Abnormality of the thyroid gland, Adrenocortic... ORPHA:97280
Aicardi Syndrome
Delayed puberty, Precocious puberty ORPHA:50
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... OMIM:158330
Aicardi Syndrome
Dilated third ventricle, Precocious puberty OMIM:304050
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Failure to thrive, Sept... OMIM:270400
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Failure to thrive, Precocious puberty OMIM:619950
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Thyroid follicular hyperplasia, Pheochromocyto... OMIM:160980
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:79085
Faundes-Banka Syndrome
Delayed puberty, Cryptorchidism, Failure to thrive, Premature thelarche OMIM:619376
Multiple Endocrine Neoplasia Type 1
Thymoma, Parathyroid carcinoma, Decreased male libido, Increased circulating cortisol level, Insu... ORPHA:652
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Increased ci... ORPHA:97287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Cryptorchidism, Increased circulating prolactin concentration, Abnormality of the anterior pituit... ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Precocious puberty OMIM:616682
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Neurofibromatosis Type 1
Delayed puberty, Cryptorchidism, Pheochromocytoma, Abnormality of the endocrine system, Precociou... ORPHA:636
Lead Poisoning
Delayed puberty, Abnormal sperm morphology, Small for gestational age, Reduced sperm motility, De... ORPHA:330015
Wolf-Hirschhorn Syndrome
Small for gestational age, Cryptorchidism, Aplasia of the uterus, Precocious puberty, Failure to ... OMIM:194190
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary agenesis, Decreas... ORPHA:95494
Floating-Harbor Syndrome
Small for gestational age, Cryptorchidism, Varicocele, Epididymal cyst, Hypospadias, Precocious p... ORPHA:2044
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Rubinstein-Taybi Syndrome 1
Small for gestational age, Shawl scrotum, Cryptorchidism, Truncal obesity, Failure to thrive, Pap... OMIM:180849
Sponastrime Dysplasia
Hypospadias, Small for gestational age, Precocious puberty, Hypothyroidism ORPHA:93357
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morphology, Abnormal labia morph... ORPHA:37202
Meningioma
Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Obesity, Neo... ORPHA:2495
Williams Syndrome
Cryptorchidism, Polycystic ovaries, Failure to thrive in infancy, Obesity, Hypoplasia of penis, T... ORPHA:904
Somatomammotropinoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Dysmenorrhea... ORPHA:314769
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Glomus jugular tumor, Pheochromo... ORPHA:97685
Acromegaly
Wide penis, Elevated circulating growth hormone concentration, Pituitary prolactin cell adenoma, ... ORPHA:963
Wilson Disease
Weight loss, Abnormality of the menstrual cycle, Failure to thrive, Increased body weight ORPHA:905
Kabuki Syndrome 1
Cryptorchidism, Micropenis, Anoperineal fistula, Congenital hypothyroidism, Premature thelarche OMIM:147920
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99226
Alström Syndrome
Truncal obesity, Hyperinsulinemia, Puberty and gonadal disorders, Elevated circulating thyroid-st... ORPHA:64
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Insulinoma, ... ORPHA:100076
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm ORPHA:556
African Trypanosomiasis
Abnormality of circulating cortisol level, Abnormal prolactin level, Abnormality of the endocrine... ORPHA:3385
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Pmm2-Cdg
Elevated circulating growth hormone concentration, Decreased testicular size, Increased circulati... 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.

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

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