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.

Eye Morphology

Images Ophthalmoscopy

45 Images

Eye Morphology

Images Slit Lamp

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Ovarian Dysgenesis 8
Hypoplastic labia majora, Primary amenorrhea, Elevated circulating luteinizing hormone level, Eun... OMIM:618187
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Premature thelarche, Increased cir... ORPHA:759
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:300068
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... 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
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Azoospermia,... OMIM:300200
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Perisylvian polymicrogyria, Ante... ORPHA:280195
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... ORPHA:99725
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Precocious puberty, Type II diabetes mellitus... ORPHA:254516
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Failure to thrive, Precocious puberty, Congenital hypothyroidism OMIM:614736
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163976
Gordon Holmes Syndrome
Cerebral atrophy, Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... ORPHA:90795
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163971
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Microcephaly, Precocious puberty, Cortical dysplasia, Hypoplasia of the corpus callosum ORPHA:457260
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hyperinsulinemia, Small for gestational age, Long penis, Insulin-resistant... OMIM:262190
Amenorrhea-Galactorrhea Syndrome
Secondary amenorrhea, Pituitary adenoma OMIM:104600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, ... OMIM:615300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty ORPHA:254531
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eunuc... ORPHA:3044
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Microcephaly, Hypoplasia of the corpus callosum, Decreased body weight, Precocious puberty OMIM:300958
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Cerebral atrophy, Premature pubarche ORPHA:457205
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Precocious puberty, Maturity... ORPHA:96184
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Congenital Generalized Lipodystrophy
Precocious puberty in females, Amenorrhea, Oligomenorrhea, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:528
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Ollier Disease
Precocious puberty ORPHA:296
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Microcephaly, Supernumerary nipple, Precocious puberty OMIM:619243
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Microcephaly, Precocious puberty, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Panhypopituit... ORPHA:95619
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Precocious puberty OMIM:619356
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Leptin Deficiency Or Dysfunction
Primary amenorrhea, Micropenis, Obesity, Decreased serum leptin, Hypogonadism, Decreased testicul... OMIM:614962
Mccune-Albright Syndrome
Abnormal endocrine physiology, Irregular menstruation, Goiter, Increased serum testosterone level... ORPHA:562
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small scro... OMIM:176270
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Inappropr... ORPHA:100083
Donohue Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cyst, Severe failure to ... OMIM:246200
Silver-Russell Syndrome
Failure to thrive in infancy, Cryptorchidism, Abnormal vagina morphology, Obesity, Premature adre... ORPHA:813
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... OMIM:301033
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Diabe... OMIM:614963
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Slc35A2-Cdg
Cerebral atrophy, Failure to thrive in infancy, Hypoplastic hippocampus, Cerebral white matter at... ORPHA:356961
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Pa... ORPHA:370348
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Diabetes ... OMIM:610628
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Microcephaly, Failure to thrive, Precocious puberty, Hypoplasia of the... ORPHA:261652
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
19P13.12 Microdeletion Syndrome
Hypothyroidism, Cryptorchidism, Obesity, Microcephaly, Precocious puberty, Hypoplasia of the corp... ORPHA:254346
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
19P13.3 Microduplication Syndrome
Microcephaly, Unilateral cryptorchidism, Precocious puberty, Cerebral atrophy ORPHA:447980
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:612702
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Aplasia/Hypoplasia of the corpus callosum, Obesity,... ORPHA:819
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Primary amenorrhea, Male pseudohermaphroditism, Ambiguous genitalia, Adre... OMIM:202110
Radio-Tartaglia Syndrome
Microcephaly, Obesity, Agenesis of corpus callosum, Precocious puberty OMIM:619312
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Primary am... ORPHA:95496
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased testicular si... ORPHA:66628
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Cryptorchidism, Failure to thrive, Precocious puberty, Hyperhidrosis, ... ORPHA:96182
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Obesity, Precocious puberty ORPHA:163681
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Microcephaly, Elevated circul... OMIM:617253
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Increased serum testosterone level, Oligospe... ORPHA:8
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Amenorrhea, Abnormality of the pitui... ORPHA:251937
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased testicular si... ORPHA:179494
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Perrault Syndrome 3
Hypoplasia of the uterus, Microcephaly, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism, Ovarian cyst OMIM:613546
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Carpenter Syndrome 1
Cerebral atrophy, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Obesity, External ge... OMIM:201000
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Hemimegalencephaly OMIM:163200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Abnormal response to glucagon ... ORPHA:79644
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Hypopituitarism, Elevated circul... ORPHA:95613
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Truncal obesity, Microcephaly, Precocious puberty, Hypo... ORPHA:2637
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Pallister-Hall Syndrome
Hypothalamic hamartoma, Cryptorchidism, Panhypopituitarism, Micropenis, Decreased circulating cor... OMIM:146510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Bainbridge-Ropers Syndrome
Cryptorchidism, Supernumerary nipple, Microcephaly, Failure to thrive, Precocious puberty, Hypopl... OMIM:615485
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder, P... ORPHA:96092
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Type I diabetes mellitus, Precocious puberty OMIM:619269
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Microcephaly, Precocious puberty, Type II diabetes mellitus, Hypospadias OMIM:210720
Alexander Disease
Cerebral calcification, Hypothyroidism, Agenesis of corpus callosum, Failure to thrive, Precociou... ORPHA:58
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Tuberous Sclerosis 1
Cerebral calcification, Hypothyroidism, Cortical tubers, Adenoma sebaceum, Hemimegalencephaly, Pr... OMIM:191100
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, In... ORPHA:280356
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Myhre Syndrome
Abnormal penis morphology, Cryptorchidism, External genital hypoplasia, Precocious puberty, Episp... ORPHA:2588
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Hypothyroidism, Premature pubarche, Microcephaly, Premature thelarche OMIM:616878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovarie... ORPHA:90301
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Angelman Syndrome
Cerebral dysmyelination, Precocious puberty in females, Obesity, Microcephaly, Cerebral cortical ... ORPHA:72
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Ppoma
Cholelithiasis, Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidi... ORPHA:97278
Tuberous Sclerosis 2
Cerebral calcification, Hypothyroidism, Cortical tubers, Adenoma sebaceum, Hemimegalencephaly, Pr... OMIM:613254
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Pancreatic islet cell adenoma, Primary hyperparathyroidism, Inc... ORPHA:97289
Lig4 Syndrome
Hypothyroidism, Amenorrhea, Cryptorchidism, Micropenis, Microcephaly, Failure to thrive OMIM:606593
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Grfoma
Cholelithiasis, Intestinal carcinoid, Palmoplantar hyperhidrosis, Abnormality of the thyroid glan... ORPHA:97261
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Vipoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma, Increased cir... ORPHA:97282
Somatostatinoma
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parat... ORPHA:97283
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Overweight, Dec... ORPHA:99832
Non-Acquired Panhypopituitarism
Infertility, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Amenorrhea, Delayed... ORPHA:90695
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypoparathyroidism, Precocious puberty ORPHA:369837
Early Infantile Epileptic Encephalopathy
Micropenis, Microcephaly, Failure to thrive, Precocious puberty, Diffuse cerebral atrophy, Pachyg... ORPHA:1934
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI, Precocious... ORPHA:845
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Adenoma sebaceum, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevate... OMIM:131100
Kabuki Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Microcephaly, Failure to thrive, Precocious puberty... ORPHA:2322
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Crypt... ORPHA:672
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased ... ORPHA:91355
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Chordee, Failure to thrive in infancy, Small for gestational age, Cryptorchidism,... ORPHA:268261
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Obesity, Precocious puberty OMIM:301066
Hypophosphatemic Rickets
Hyperthyroidism, Failure to thrive, Parathyroid hyperplasia, Precocious puberty, Hyperparathyroid... ORPHA:437
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Partial agenesis of the corpus ca... OMIM:304050
Non-Specific Syndromic Intellectual Disability
Abnormal corpus callosum morphology, Small scrotum, Decreased body weight, Cryptorchidism, Microc... ORPHA:528084
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Agenesis of corpus callosum, Small fo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Agenesis of corpus callosum, Small fo... ORPHA:363958
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Precocious puberty, Pachygyria, Polymicrog... ORPHA:50
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Labial hypertrophy ORPHA:96191
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Peritoneal Cystic Mesothelioma
Dyspareunia, Menorrhagia, Weight loss, Metrorrhagia ORPHA:168816
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Small scrotum, Septate vagina, Cryptorchidism, Micropenis, Hyp... OMIM:270400
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Glucagonoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma, Increased cir... ORPHA:97280
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Hyperparathyroidism, Thyroid adenoma, Adrenocortical carcin... ORPHA:913
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia, Miscarriage ORPHA:99928
Carney Complex, Type 1
Thyroid follicular hyperplasia, Elevated circulating growth hormone concentration, Pheochromocyto... OMIM:160980
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Faundes-Banka Syndrome
Cryptorchidism, Primary microcephaly, Failure to thrive, Premature thelarche, Delayed puberty OMIM:619376
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin OMIM:615238
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplas... ORPHA:95494
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Abnormality of the anterior pituitary, Cryptorchidism, Hyperintensity of cerebral... ORPHA:438213
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Periventricular cysts, Agenesis of corpus callosum, Small for gestational ... OMIM:194190
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:79085
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased serum ser... ORPHA:97287
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Neurofibromatosis Type 1
Cryptorchidism, Pheochromocytoma, Precocious puberty, Delayed puberty, Abnormality of the endocri... ORPHA:636
Van Esch-O'Driscoll Syndrome
Microcephaly, Cerebral atrophy, Increased circulating gonadotropin level OMIM:301030
Floating-Harbor Syndrome
Epididymal cyst, Varicocele, Small for gestational age, Cryptorchidism, Precocious puberty, Conge... ORPHA:2044
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... ORPHA:37202
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Amenorrhea, Imperforate hymen OMIM:237100
Sponastrime Dysplasia
Hypothyroidism, Precocious puberty, Hypospadias, Small for gestational age ORPHA:93357
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Williams Syndrome
Cholelithiasis, Hypogonadotropic hypogonadism, Hypothyroidism, Abnormality of the diencephalon, F... ORPHA:904
Somatomammotropinoma
Hypogonadotropic hypogonadism, Amenorrhea, Dysmenorrhea, Pituitary prolactin cell adenoma, Anteri... ORPHA:314769
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Small for gestational age, Decre... ORPHA:330015
17Q11 Microdeletion Syndrome
Pheochromocytoma, Precocious puberty, Glomus jugular tumor, Recurrent subcortical infarcts, Eleva... ORPHA:97685
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Pituitary prolactin cell adenoma, Anterior hypopitui... ORPHA:963
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Agenesis of corpus callosum, Cryptorchidism, Shawl scrot... OMIM:180849
Wilson Disease
Weight loss, Failure to thrive, Abnormality of the menstrual cycle, Increased body weight ORPHA:905
Kabuki Syndrome 1
Cryptorchidism, Micropenis, Congenital hypothyroidism, Microcephaly, Anoperineal fistula, Prematu... OMIM:147920
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Failure to thrive in infancy, Hyperinsulinemia, Hashimoto thyroiditis, Abnorm... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Failure to thrive in infancy, Hyperinsulinemia, Hashimoto thyroiditis, Abnorm... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hyperinsulinemia, Hashimoto thyroiditis, Abnorm... ORPHA:99228
Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hyperinsulinemia, Hashimoto thyroiditis, Abnorm... ORPHA:99226
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Decreased fertility in males, Oligospermia... ORPHA:64
Klippel-Trénaunay Syndrome
Microcephaly, Abnormality of the menstrual cycle ORPHA:90308
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Elevated circulating growth hormone concentration, Insulinom... ORPHA:100076
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Malakoplakia
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis ORPHA:556
African Trypanosomiasis
Abnormality of circulating cortisol level, Infertility, Abnormality of the endocrine system, Abno... ORPHA:3385
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Angioosteohypertrophic Syndrome
Microcephaly, Abnormality of the menstrual cycle ORPHA:2346
Pmm2-Cdg
Hypogonadotropic hypogonadism, Hyperinsulinemia, Elevated circulating growth hormone concentratio... ORPHA:79318
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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