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 1.83×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

45 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 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 luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Ovarian Dysgenesis 4
Decreased body weight, Elevated circulating follicle stimulating hormone level, Primary amenorrhe... OMIM:616185
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
46,Xy Sex Reversal 1
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... OMIM:400044
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty, Obesity OMIM:604931
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... OMIM:229070
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated c... OMIM:618187
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration, Amenorrhea OMIM:145295
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Premature Ovarian Failure 11
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Isosexual precocious puberty, Increased body weight,... ORPHA:759
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency OMIM:311360
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Premature Ovarian Failure 9
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... ORPHA:2410
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperprolactinemia
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea OMIM:612847
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Cryptorchidism, Precocious puberty, Congenital hypothyroidism OMIM:614736
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Ambiguous genitalia, female, Decreased ci... ORPHA:90795
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism ORPHA:280195
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus OMIM:144800
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic ... ORPHA:163971
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma, Secondary amenorrhea OMIM:104600
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Long peni... OMIM:262190
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty ORPHA:254531
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Decreased body weight, Precocious puberty OMIM:300958
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... ORPHA:243
Prader-Willi-Like Syndrome
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Prader-Willi Syndrome
Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplas... ORPHA:739
Ollier Disease
Precocious puberty ORPHA:296
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, C... ORPHA:528
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Delayed puberty OMIM:300604
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Pancreatitis, Abnormal endocrine physiolo... ORPHA:562
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... OMIM:602668
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Long penis, Pancrea... OMIM:246200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... ORPHA:813
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Pancreatitis, Ovarian neoplasm, Uterine neoplasm, M... ORPHA:370348
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Prolactinoma
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Erectile dys... ORPHA:2965
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... ORPHA:91347
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism OMIM:614880
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ... ORPHA:91351
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
19P13.12 Microdeletion Syndrome
Precocious puberty, Hypospadias, Hypothyroidism, Obesity, Cryptorchidism ORPHA:254346
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty ORPHA:447980
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Small for gestational age, Elevated circulating luteinizing hormone lev... OMIM:618419
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Precocious puberty, Failure to th... ORPHA:356961
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Failure to thrive, Precocious puberty ORPHA:261652
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty, Obesity, Failure to thrive in infancy ORPHA:819
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... OMIM:202110
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Sma... ORPHA:96182
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
Radio-Tartaglia Syndrome
Obesity, Precocious puberty OMIM:619312
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Gangliocytoma
Abnormality of the pituitary gland, Amenorrhea, Pituitary null cell adenoma, Elevated circulating... ORPHA:251937
Pituitary Stalk Interruption Syndrome
Failure to thrive, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Primary a... ORPHA:95496
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Precocious puberty ORPHA:163681
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:600955
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Carpenter Syndrome 1
Obesity, Cryptorchidism, Precocious puberty, External genital hypoplasia OMIM:201000
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth... ORPHA:769
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95512
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95513
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Precocious puberty, Truncal obesity ORPHA:2637
Bainbridge-Ropers Syndrome
Failure to thrive, Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:615485
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Type I diabetes mellitus OMIM:619269
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Fibrous Dysplasia Of Bone
Abnormality of the endocrine system, Precocious puberty in females, Thyroid carcinoma, Elevated c... ORPHA:249
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Truncal obesity, Precocious puberty, Type II diabetes mellitus OMIM:210720
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Myhre Syndrome
Precocious puberty, External genital hypoplasia, Abnormal penis morphology, Hypospadias, Hypogona... ORPHA:2588
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the ovary, Decreased serum testosterone concentration, Cry... ORPHA:432
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Precocious puberty, Micropenis ORPHA:96092
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Premature thelarche, Type I diabetes mellitus, Nodular goiter ORPHA:371428
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Alexander Disease
Failure to thrive, Precocious puberty, Hypothyroidism, Diabetes mellitus, Hyperhidrosis ORPHA:58
Ppoma
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, El... ORPHA:97278
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Angelman Syndrome
Delayed menarche, Obesity, Precocious puberty in females ORPHA:72
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Tuberous Sclerosis 1
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:191100
Grfoma
Cholelithiasis, Neoplasm of the pancreas, Palmoplantar hyperhidrosis, Abnormality of the thyroid ... ORPHA:97261
Lig4 Syndrome
Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Cryptorchidism OMIM:606593
Vipoma
Neoplasm of the pancreas, Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid glan... ORPHA:97282
Somatostatinoma
Neoplasm of the pancreas, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitar... ORPHA:97283
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Obesity, Precocious puberty ORPHA:369837
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
Hypophosphatemic Rickets
Failure to thrive, Precocious puberty, Hyperthyroidism, Elevated circulating parathyroid hormone ... ORPHA:437
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Pallister-Hall Syndrome
Central adrenal insufficiency, Hypothalamic hamartoma, Large for gestational age, Ambiguous genit... ORPHA:672
Sheehan Syndrome
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Dyspareunia, Central adrenal insuf... ORPHA:91355
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... OMIM:300942
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Obesity, Precocious puberty OMIM:301066
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Precocious puberty, Labial hypertrophy ORPHA:96191
Peritoneal Cystic Mesothelioma
Weight loss, Menorrhagia, Dyspareunia, Metrorrhagia ORPHA:168816
Kabuki Syndrome
Failure to thrive, Precocious puberty, Hypoplasia of penis, Hypospadias, Obesity, Cryptorchidism ORPHA:2322
Tuberous Sclerosis 2
Hypothyroidism, Adenoma sebaceum, Precocious puberty OMIM:613254
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Abnormality of the endocrine system, Decreased response to growth hormone stimulation te... ORPHA:268261
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:363958
Non-Specific Syndromic Intellectual Disability
Decreased body weight, Cryptorchidism, Precocious puberty, Small scrotum ORPHA:528084
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Glucagonoma
Neoplasm of the pancreas, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulati... ORPHA:97280
Early Infantile Epileptic Encephalopathy
Failure to thrive, Precocious puberty, Micropenis ORPHA:1934
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Aicardi Syndrome
Dilated third ventricle, Precocious puberty OMIM:304050
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Smith-Lemli-Opitz Syndrome
Failure to thrive, Precocious puberty, Bicornuate uterus, Micropenis, Bifid scrotum, Hypospadias,... OMIM:270400
Faundes-Banka Syndrome
Premature thelarche, Cryptorchidism, Failure to thrive, Delayed puberty OMIM:619376
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Failure to thrive, Precocious puberty, Macroorchidism OMIM:619950
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Irregular menstruation, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... ORPHA:652
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Increased circulati... ORPHA:97287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Increased circulating ... ORPHA:438213
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Floating-Harbor Syndrome
Precocious puberty, Small for gestational age, Hypospadias, Varicocele, Congenital posterior uret... ORPHA:2044
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Pheochromocytoma, Delayed puberty, Crypt... ORPHA:636
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Wolf-Hirschhorn Syndrome
Failure to thrive, Precocious puberty, Small for gestational age, Hypospadias, Aplasia of the ute... OMIM:194190
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Oligosperm... ORPHA:330015
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:95494
Sponastrime Dysplasia
Hypothyroidism, Hypospadias, Precocious puberty, Small for gestational age ORPHA:93357
Rubinstein-Taybi Syndrome 1
Failure to thrive, Small for gestational age, Papillary cystadenoma of the epididymis, Premature ... OMIM:180849
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Williams Syndrome
Cholelithiasis, Type II diabetes mellitus, Precocious puberty, Hypoplasia of penis, Functional ab... ORPHA:904
Somatomammotropinoma
Amenorrhea, Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth... ORPHA:314769
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Precocious puberty, Elevated circulating parathyroid hormone level, Pheochr... ORPHA:97685
Acromegaly
Pituitary growth hormone cell adenoma, Abnormality of the endocrine system, Elevated circulating ... ORPHA:963
Wilson Disease
Failure to thrive, Increased body weight, Weight loss, Abnormality of the menstrual cycle ORPHA:905
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Female infertility, Primary amenorrhea, High urinary... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Female infertility, Primary amenorrhea, High urinary... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Female infertility, Primary amenorrhea, High urinary... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Female infertility, Primary amenorrhea, High urinary... ORPHA:99226
Kabuki Syndrome 1
Micropenis, Premature thelarche, Congenital hypothyroidism, Anoperineal fistula, Cryptorchidism OMIM:147920
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Hypergonadotropic hypogonadism, Hyo... ORPHA:64
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle ORPHA:90308
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Glucagonoma, Increased circulating ACTH level,... ORPHA:100076
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Prostate neoplasm ORPHA:556
African Trypanosomiasis
Infertility, Abnormality of the endocrine system, Impotence, Abnormal prolactin level, Abnormalit... ORPHA:3385
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Pmm2-Cdg
Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... ORPHA:79318
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle ORPHA:2346
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Cystocele, 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) ES Cells
Mkrn3em1(IMPC)Tcp Intra-exon deletion Mice

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