Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Mkrn3em1(IMPC)Tcp HOM   Early adult 2.76×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

45 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Ele... OMIM:618187
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Labial hypoplasia, Primary amenorrh... OMIM:300068
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual precocious puberty, I... ORPHA:759
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Impotence, Adrenocorticotropic hormone... ORPHA:91354
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spastic Paraplegia With Precocious Puberty
Precocious puberty OMIM:182820
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... ORPHA:99429
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Perisylvian polymicrogyria, Anterior hypopituitarism, Megal... ORPHA:280195
Temple Syndrome
Cryptorchidism, Obesity, Small for gestational age, Type II diabetes mellitus, Precocious puberty... ORPHA:254516
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Absence of pubertal development, Primary amenorrhea, Hypogonadotrop... OMIM:614840
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Congenital hypothyroidism, Precocious puberty, Failure to thrive OMIM:614736
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Cerebral atrophy, Oligomenorrhea OMIM:212840
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... ORPHA:251623
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Decreased circulating aldosterone level, Female external genital... ORPHA:289548
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Oligosp... OMIM:602668
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398079
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98754
Amenorrhea-Galactorrhea Syndrome
Secondary amenorrhea, Pituitary adenoma OMIM:104600
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:98793
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:177901
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Eunuchoid habit... ORPHA:261534
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Long penis, Insulin-resistant diabetes mellitus, Small for gestational age, Dia... OMIM:262190
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration, Infertility, Irregular menstruation OMIM:264110
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Cortical dysplasia, Precocious puberty ORPHA:457260
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Scrotal hypoplasia, Decre... ORPHA:398073
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Microcephaly, Precocious puberty, Decreased body weight OMIM:300958
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Delayed... OMIM:305400
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Prader-Willi Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Decreased circulating gonadotropin co... ORPHA:739
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Central hypothyroidism, Scrotal hypoplasia, Clitoral hypoplasia, Xerostomia, Type... ORPHA:398069
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Cerebral atrophy, Premature pubarche ORPHA:457205
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Truncal obesity, Small for gestational age,... ORPHA:96184
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618419
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Increased urinary cortisol level, Infertility, Increased circulating cortiso... ORPHA:786
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Hypogonadism, Microcephaly, Gonadal dysgenesis, Precocious puberty ORPHA:3306
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Enlarged polycystic ovaries, Oligomenorrhea OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis, ... OMIM:614962
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Prader-Willi Syndrome
Cryptorchidism, Infertility, Hyperinsulinemia, Oligomenorrhea, Scrotal hypoplasia, External genit... OMIM:176270
49,Xyyyy Syndrome
Increased circulating gonadotropin level, Male hypogonadism, Azoospermia, Abnormality of the test... ORPHA:99330
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple, Microcephaly, Precocious puberty OMIM:619243
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Ollier Disease
Precocious puberty ORPHA:296
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesi... OMIM:614963
Donohue Syndrome
Ovarian cyst, Hyperinsulinemia, Long penis, Clitoral hypertrophy, Precocious puberty, Pancreatic ... OMIM:246200
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Premature adrenarche, Secondary microcephaly, Failure... ORPHA:813
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Increased serum serotonin, Weight loss, Adrenocorticotropic hormone exce... ORPHA:100083
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Primary amenorrhea, Obesity, Hypotha... ORPHA:2235
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Hypothyroidism, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Uterine neoplasm, Metrorrhagia, Pancreatitis, Neoplasm of the scro... ORPHA:370348
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Decreased circulating gonadotropin concentration, Prima... OMIM:614841
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Kleefstra Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Failure to thrive, ... ORPHA:261652
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... ORPHA:91351
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh... ORPHA:95496
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hypothyroidism, Hypoplasia of the corpus callosum, Hypospadias, Microcephaly, Pre... ORPHA:254346
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis OMIM:612702
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
19P13.3 Microduplication Syndrome
Microcephaly, Cerebral atrophy, Precocious puberty, Unilateral cryptorchidism ORPHA:447980
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Failure to thrive in infancy, Delayed ... ORPHA:819
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Precocious puberty, Obesity OMIM:619312
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Amenorrhea... ORPHA:251937
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Premature adrenarche, Small for gestational age, Hyperhidrosis, Failure to thrive... ORPHA:96182
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Acute pancreatitis, Microcephaly, Elevated circul... OMIM:617253
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea, Obesity OMIM:600955
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Microcephaly, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... ORPHA:90791
Carpenter Syndrome 1
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, External genital hyp... OMIM:201000
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concentration, Insul... ORPHA:769
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypoplasia of the corpus callosum, Truncal obesity, Abnormality of female external genitalia, Mic... ORPHA:2637
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Hypothalamic hamartoma, Adrenal hypoplasia, Decreased circula... OMIM:146510
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Precocious puberty OMIM:163200
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Eunuchoid habitus, Breast hypoplasia, Non-obstruc... ORPHA:432
Placental Site Trophoblastic Tumor
Spontaneous abortion, Metrorrhagia, Amenorrhea ORPHA:99928
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the gallbladder, Micropenis, P... ORPHA:96092
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Failure to thrive, Microcephaly, Micropenis OMIM:606593
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Myhre Syndrome
Cryptorchidism, Abnormal penis morphology, External genital hypoplasia, Hypospadias, Epispadias, ... ORPHA:2588
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Type II diabetes mellitus, Hypospadias, Microcephaly, Precocious puberty OMIM:210720
Alexander Disease
Agenesis of corpus callosum, Hypothyroidism, Megalencephaly, Hyperhidrosis, Cerebral calcificatio... ORPHA:58
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Angelman Syndrome
Delayed menarche, Cerebral dysmyelination, Cerebral cortical atrophy, Precocious puberty in femal... ORPHA:72
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Hypothyroidism, Cerebral atrophy, Microcephaly, Premature thelarche OMIM:616878
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Metrorrhagia, Weight loss ORPHA:168816
Tuberous Sclerosis 1
Hypothyroidism, Adenoma sebaceum, Cerebral calcification, Cortical tubers, Hemimegalencephaly, Pr... OMIM:191100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Precocious puberty, Obesity OMIM:619269
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Oligomenorrh... ORPHA:91355
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ... ORPHA:99832
Tuberous Sclerosis 2
Hypothyroidism, Adenoma sebaceum, Cerebral calcification, Cortical tubers, Hemimegalencephaly, Pr... OMIM:613254
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Menometrorrhagia, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes ... ORPHA:189427
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Pallister-Hall Syndrome
Cryptorchidism, Scrotal hypoplasia, Pituitary hypothyroidism, Decreased testicular size, Micropen... ORPHA:672
Kabuki Syndrome
Cryptorchidism, Cerebral cortical atrophy, Failure to thrive, Hypoplasia of penis, Hypospadias, M... ORPHA:2322
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypoth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypoth... ORPHA:363958
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Precocious puberty, Abnormal thalamic MRI signal i... ORPHA:845
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Chordee, Hypothyroidism, Hypoplasia of the corpus callosum, Shawl scrotum, Decrea... ORPHA:268261
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Pachygyria, Hypoplasia of the corpus callosum, Failure to thr... ORPHA:1934
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Polymicrogyria, Dilated third ventricle, Microcephaly, Preco... OMIM:304050
Hypophosphatemic Rickets
Parathyroid hyperplasia, Hyperparathyroidism, Hyperthyroidism, Elevated circulating parathyroid h... ORPHA:437
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Hypoplasia of the corpus callosum, Scrotal hy... OMIM:270400
Non-Specific Syndromic Intellectual Disability
Cryptorchidism, Small scrotum, Frontal cortical atrophy, Decreased body weight, Abnormal corpus c... ORPHA:528084
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Glucagonoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97280
Aicardi Syndrome
Pachygyria, Delayed puberty, Polymicrogyria, Microcephaly, Precocious puberty, Partial agenesis o... ORPHA:50
Paternal Uniparental Disomy Of Chromosome 6
Labial hypertrophy, Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Precocious puberty ORPHA:96191
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas... OMIM:160980
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal vagina morphology, Abnormal labia morphology, Dyspar... ORPHA:37202
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Cryptorchidism, Abnormality of the anterior pituitary, Absent septum pellucidum, Hypothyroidism, ... ORPHA:438213
Wolf-Hirschhorn Syndrome
Cryptorchidism, Cavum septum pellucidum, Agenesis of corpus callosum, Absent septum pellucidum, P... OMIM:194190
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Van Esch-O'Driscoll Syndrome
Microcephaly, Increased circulating gonadotropin level, Cerebral atrophy OMIM:301030
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Increase... ORPHA:97287
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Small for gestational age, Congenital posterior urethral valve, ... ORPHA:2044
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Neurofibromatosis Type 1
Cryptorchidism, Pheochromocytoma, Delayed puberty, Precocious puberty, Abnormality of the endocri... ORPHA:636
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Williams Syndrome
Cryptorchidism, Hypothyroidism, Failure to thrive in infancy, Polycystic ovaries, Urethral stenos... ORPHA:904
Sponastrime Dysplasia
Hypospadias, Small for gestational age, Precocious puberty, Hypothyroidism ORPHA:93357
Somatomammotropinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Amenorr... ORPHA:314769
Wilson Disease
Abnormality of the menstrual cycle, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Acromegaly
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Long pe... ORPHA:963
17Q11 Microdeletion Syndrome
Pheochromocytoma, Recurrent subcortical infarcts, Delayed puberty, Elevated circulating parathyro... ORPHA:97685
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Agenesis of corpus callosum, Shawl scrotum, Truncal obesity, Papill... OMIM:180849
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99226
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Microcephaly ORPHA:90308
Kabuki Syndrome 1
Cryptorchidism, Anoperineal fistula, Congenital hypothyroidism, Microcephaly, Micropenis, Prematu... OMIM:147920
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Elevated circulating growth hormone concentration, Insulinoma, Glucagonoma,... ORPHA:100076
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm ORPHA:556
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Infertility, Abnormality ... ORPHA:3385
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle, Microcephaly ORPHA:2346
Pmm2-Cdg
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Hyperp... ORPHA:79318
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Hypermobile Ehlers-Danlos Syndrome
Cystocele, Abnormality of the menstrual cycle, Decreased fertility ORPHA:285

Histopathology

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

There is no histopathology data for 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) Targeting vectors, ES Cells
Mkrn3em1(IMPC)Tcp Intra-exon deletion Mice

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