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Gene: Mir505 MGI:3629955

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
microRNA 505
Synonyms:
Mirn505,  mmu-mir-505,  mir 505

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Mir505 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mir505 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Precocious Puberty, Central, 2
Premature pubarche, Premature thelarche OMIM:615346
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
46,Xy Sex Reversal 1
Gonadal dysgenesis, Tall stature, Abnormal female external genitalia morphology, Absence of secon... OMIM:400044
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Obesity, Infertility OMIM:604931
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Polycystic Ovary Syndrome 1
Oligomenorrhea, Obesity, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Tall stature, Male in... ORPHA:99429
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Familial Peripheral Male-Limited Precocious Puberty
Tall stature, Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
46,Xx Sex Reversal 1
Tall stature, Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True ... OMIM:400045
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Precocious p... ORPHA:254516
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Pituitary Gigantism
Tall stature, Premature pubarche, Increased circulating insulin-like growth factor 1 concentratio... ORPHA:99725
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Estrogen Resistance Syndrome
Breast hypoplasia, Tall stature, Absence of secondary sex characteristics, Hyperinsulinemia, Abno... ORPHA:785
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Failure to... OMIM:300200
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Obesity, Precocious puberty ORPHA:254525
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... ORPHA:168563
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Obesity, Hyperhidrosis, Female sexual dysfunction ORPHA:2073
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Obesity, Maturity-onset diabetes of the young, Precocious puberty ORPHA:254531
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Is... ORPHA:90795
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Temple Syndrome
Maturity-onset diabetes of the young, Cryptorchidism, Decreased testicular size, Precocious puber... OMIM:616222
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Trisomy X
Secondary amenorrhea, Tall stature, Precocious puberty, Premature ovarian insufficiency ORPHA:3375
Aromatase Deficiency
Tall stature, Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hyperg... ORPHA:91
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, Precocious puberty, Obesity, ... ORPHA:96184
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Obesity, Hypogonadism, Primary amenorrhea, Mic... OMIM:614962
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Precocious puberty, Diabetic ketoacidosis, Sm... OMIM:262190
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Failure to t... ORPHA:528
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Mccune-Albright Syndrome
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... OMIM:174800
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Eunuchoid... ORPHA:261534
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Hypogonadism, Cryptorchidism, Truncal obesity ORPHA:261483
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Familial Glucocorticoid Deficiency
Tall stature, Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchi... ORPHA:361
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Severe failure to thrive, Hyperinsulinemia, L... OMIM:246200
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Silver-Russell Syndrome
Postnatal growth retardation, Hypospadias, Abnormal vagina morphology, Abnormal male external gen... ORPHA:813
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Abnormal reproductive system morpholog... ORPHA:1916
Dystonia 28
Precocious puberty, Hypothyroidism ORPHA:589618
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Cryptorchidism, Hypogonadism ORPHA:3306
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Diabetes mellitus, Primary a... OMIM:610628
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesi... OMIM:601820
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting... ORPHA:2298
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Mccune-Albright Syndrome
Pancreatitis, Increased serum testosterone level, Abnormal testis morphology, Abnormal endocrine ... ORPHA:562
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Tall stature, Abnormal ovarian physiology, C... ORPHA:90794
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Pancreatitis, Precocious puberty, Weight loss, Metror... ORPHA:370348
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Childhood-onset truncal obesity, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Childhood-onset truncal obesity, Decreased response to growth hormone stimulatio... ORPHA:71526
Bardet-Biedl Syndrome 4
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism OMIM:615982
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity ORPHA:293964
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Severe postnatal growth ret... ORPHA:769
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Ollier Disease
Precocious puberty ORPHA:296
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism, Hypoplasia of penis ORPHA:3055
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell... ORPHA:2234
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... ORPHA:432
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:176270
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Bardet-Biedl Syndrome 2
Obesity, External genital hypoplasia, Diabetes mellitus, Hypogonadism OMIM:615981
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... OMIM:102200
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Carney Complex
Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Pituitar... ORPHA:1359
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... OMIM:618419
Bardet-Biedl Syndrome 16
Obesity, External genital hypoplasia, Hypogonadism OMIM:615993
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Overgrowth, Large for gestational age ORPHA:261652
47,Xyy Syndrome
Tall stature, Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oli... ORPHA:8
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Male hypogonadis... OMIM:300148
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Hypothyroidism, Obesity, Cryptorchidism ORPHA:254346
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Obesity... ORPHA:247768
Leprechaunism
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Enlarged kidney, Hepatomega... ORPHA:508
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Smith-Magenis Syndrome
Delayed puberty, Precocious puberty, Hypothyroidism, Obesity, Failure to thrive in infancy ORPHA:819
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:96182
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Labial hypoplasia, Precocious puberty, Cryptorchidism, Micropenis OMIM:620073
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Slc35A2-Cdg
Precocious puberty, Failure to thrive in infancy, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism ORPHA:447980
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Hypoinsulinemia, Truncal obesity OMIM:240900
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Hepatomegaly ORPHA:163681
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Hypogonadotropic hypogonadism ORPHA:177910
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Obesity, Diabetes mellitus, Cryptorchidism, Mic... ORPHA:85282
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Carpenter Syndrome 1
Precocious puberty, Obesity, External genital hypoplasia, Cryptorchidism OMIM:201000
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus ORPHA:79084
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Peutz-Jeghers Syndrome
Cervix cancer, Enlarged polycystic ovaries, Pancreatic adenocarcinoma ORPHA:2869
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Opitz Gbbb Syndrome
Hypospadias, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries... ORPHA:2745
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Postnatal growth retardation, Hypospadias, Precocious puberty, Type II diabetes mellitus, Truncal... OMIM:210720
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Overgrowth OMIM:163200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal female external genitalia morphology, Truncal obesity ORPHA:2637
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon st... ORPHA:79644
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova... ORPHA:79085
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Polycystic ovaries, Premature thelarche ORPHA:371428
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Kallmann Syndrome
Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of... ORPHA:478
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Type I diabetes mellitus OMIM:619269
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Decreased body weight, Elevated circulating growth hormone concentr... OMIM:608747
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Bainbridge-Ropers Syndrome
Precocious puberty, Failure to thrive, Disproportionate tall stature, Cryptorchidism, Supernumera... OMIM:615485
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ... OMIM:268020
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Obesity, Type II diabetes mellitus ORPHA:71529
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Pitui... OMIM:300942
Ataxia-Telangiectasia
Delayed puberty, Abnormal testis morphology, Failure to thrive, Type II diabetes mellitus, Aplasi... ORPHA:100
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... ORPHA:251937
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism, Hyperhidrosis ORPHA:2874
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Precocious puberty, Cardiomegaly, Cryptorchidism, Lab... ORPHA:96191
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ... ORPHA:435651
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Hypogon... ORPHA:2588
Angelman Syndrome
Obesity, Delayed menarche, Precocious puberty in females ORPHA:72
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Impaired sensitivity to ... OMIM:614450
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... ORPHA:1227
Trisomy 5P
Obesity, Hypoplasia of penis ORPHA:1742
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polycystic ovaries, Irregular menstruation OMIM:616831
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Panhypopituitarism... OMIM:146510
Amed Syndrome, Digenic
Failure to thrive, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypothyroidism, Hypoplasia of penis ORPHA:2491
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe... OMIM:604367
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Type II diabetes mellitus, Cry... ORPHA:2377
Alexander Disease
Precocious puberty, Failure to thrive, Hypothyroidism, Hyperhidrosis, Diabetes mellitus ORPHA:58
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o... ORPHA:201
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrome... ORPHA:672
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased... ORPHA:435660
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Vaginal atresia, Hypogonadism OMIM:615989
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly OMIM:301066
Craniopharyngioma
Postnatal growth retardation, Enlarged pituitary gland, Delayed puberty, Central diabetes insipid... ORPHA:54595
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Hyperinsulinemic hypoglycemia, Pancreatic... ORPHA:276608
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased response to growth hormone stimulatio... ORPHA:3464
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypoparathyroidism ORPHA:369837
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature pubarche, Premature thelarche OMIM:616878
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Cholelithiasis,... ORPHA:97278
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Sex reversal OMIM:613743
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Kabuki Syndrome
Hypospadias, Hypoplasia of penis, Precocious puberty, Failure to thrive, Obesity, Cryptorchidism ORPHA:2322
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pitui... ORPHA:91355
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:363958
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Laurence-Moon Syndrome
Small scrotum, Obesity, Micropenis OMIM:245800
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Large for gestational age, Tall stature, Overgrowth, Unilateral cryptorchidism ORPHA:137634
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism OMIM:615633
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Cholelithiasis,... ORPHA:97261
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Adrenocortical ... ORPHA:97282
Urban-Rogers-Meyer Syndrome
Obesity, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:3409
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea... ORPHA:79083
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Truncal obesity, Macroorchidism ORPHA:284180
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Episodic hyper... ORPHA:324575
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Hypospadias, Breast aplasia, Posterior pit... ORPHA:268261
Somatostatinoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Adrenocortical ... ORPHA:97283
Omodysplasia 2
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... OMIM:164745
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus, Small for gestational age, Increased body mass index ORPHA:275555
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Overweight, Mic... ORPHA:457240
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyp... ORPHA:276575
15Q24 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... ORPHA:94065
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level OMIM:603233
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Precocious ... OMIM:270400
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Hepatic Veno-Occlusive Disease
Increased body weight, Hepatomegaly ORPHA:890
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Hepatomegaly, Increased body weight, Oligomenorrhea, Dysmenorrhea, ... ORPHA:79240
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Early Infantile Epileptic Encephalopathy
Precocious puberty, Failure to thrive, Micropenis ORPHA:1934
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia ORPHA:369873
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Obesity, Diabetes mellitus, Cryptorchidism OMIM:614613
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Aicardi Syndrome
Postnatal growth retardation, Precocious puberty, Dilated third ventricle OMIM:304050
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegaly, Polycystic ovaries,... ORPHA:2348
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatomegaly, Increased body weight, Failure to thrive, Oligomenorrhea, Dysmenor... ORPHA:264580
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Adrenocortical ... ORPHA:97280
Carpenter Syndrome
Obesity, External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism ORPHA:65759
Wolf-Hirschhorn Syndrome
Hypospadias, Severe postnatal growth retardation, Aplasia of the uterus, Precocious puberty, Fail... OMIM:194190
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism OMIM:619950
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increase... OMIM:615830
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Obesity... OMIM:103580
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Decreased ... ORPHA:94086
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Left ventric... OMIM:209900
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly, Penile freckling, Hyd... OMIM:605309
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weigh... ORPHA:97287
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Uterine prolapse, Hypothyroidism, Abnorm... ORPHA:438213
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma OMIM:617100
Faundes-Banka Syndrome
Delayed puberty, Failure to thrive, Cryptorchidism, Premature thelarche OMIM:619376
48,Xxxy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Obesity, ... ORPHA:96263
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Pheochromocytoma, Pituitary gro... ORPHA:652
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypoplasia, Abnorm... ORPHA:3157
Neurofibromatosis Type 1
Delayed puberty, Tall stature, Abnormality of the endocrine system, Pheochromocytoma, Precocious ... ORPHA:636
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Hypospadias, Bilateral cryptorchidism, Premature thelarche, Failure... OMIM:180849
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Obesity, Hyperinsulinemia OMIM:617885
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... OMIM:615109
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Wilson Disease
Hepatomegaly, Increased body weight, Failure to thrive, Splenomegaly, Weight loss, Abnormality of... ORPHA:905
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Right ventricular hypertrophy, Left ventricu... ORPHA:335
Bardet-Biedl Syndrome 17
Obesity, Micropenis, Hypogonadism OMIM:615994
Williams Syndrome
Cholelithiasis, Hypoplasia of penis, Precocious puberty, Hypothyroidism, Obesity, Functional abno... ORPHA:904
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Mody
Large for gestational age, Pancreatic hypoplasia, Hypoinsulinemia, Abnormal circulating insulin c... ORPHA:552
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Cachexia, Diabetes insipidus,... ORPHA:744
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Hepatomegaly, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism, Small for gestation... ORPHA:2044
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Failure to thrive, Abnormality of the uteru... ORPHA:2470
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis OMIM:300860
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Severe postnatal growth retardation, Aplasia of the uterus, Uterus didelphys,... ORPHA:2237
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Obesity, Abnormality o... ORPHA:3138
Pituitary Adenoma 4, Acth-Secreting
Oligomenorrhea, Obesity, Pituitary adenoma, Increased circulating ACTH level, Abdominal obesity OMIM:219090
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ... OMIM:158350
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99413
Turner Syndrome
Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:881
Mosaic Monosomy X
Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99228
Monosomy X
Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia,... ORPHA:99226
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Clitoral hypertrophy, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute... OMIM:608594
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Small for gestational age, Hypospadias ORPHA:93357
Somatomammotropinoma
Tall stature, Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Pituita... ORPHA:314769
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility in females, Hepatomegal... OMIM:269700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Short Syndrome
Ovarian cyst, Small for gestational age, Insulin-resistant diabetes mellitus OMIM:269880
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Hypoplasminogenemia
Abnormal fallopian tube morphology, Cervicitis, Abnormality of the ovary ORPHA:722
Kabuki Syndrome 1
Postnatal growth retardation, Anoperineal fistula, Premature thelarche, Congenital hypothyroidism... OMIM:147920
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Abnormality of the adren... ORPHA:2176
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis OMIM:619471
Microcephalic Primordial Dwarfism, Dauber Type
Severe postnatal growth retardation, Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland OMIM:182290
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large for gestational age, Overgrowth, Small for gestational age ORPHA:254534
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Pancreatitis, Secondary amenorrhea, Decreased serum leptin, Dysmenorrhea, Splenomeg... ORPHA:280365
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
Acromegaly
Tall stature, Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Pituitar... ORPHA:963
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con... ORPHA:64
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Cushing Disease
Amenorrhea, Secondary amenorrhea, Increased body weight, Increased urinary cortisol level, Adrena... ORPHA:96253
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina,... OMIM:300707
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Precocious pub... ORPHA:97685
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the panc... ORPHA:93111
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Cryptorchidism OMIM:117550
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... OMIM:181450
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Overgrowth, Hydrocele testis ORPHA:276280
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullar... ORPHA:99889
Microsporidiosis
Adrenocortical abnormality, Prostatitis, Pancreatitis, Abnormal fallopian tube morphology, Cachex... ORPHA:2552
Acquired Generalized Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Polycystic ovaries, Insulin-resistant diabete... ORPHA:79086
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Obesity, Diabetes mellitus, Hypogonadism, Small scrotum, Cryptorchidism OMIM:614231
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornu... OMIM:269150
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... ORPHA:322
Low Phospholipid-Associated Cholelithiasis
Pancreatitis, Cholelithiasis, Obesity, Overweight, Diabetes mellitus ORPHA:69663
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Thyroiditis, Hypothyroidism, Failur... ORPHA:79259
Xq21 Microdeletion Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior hyp... ORPHA:1435
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bicornuate... ORPHA:84
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Type II diabetes mellitus, Labial pseudohyper... OMIM:151660
Bardet-Biedl Syndrome
Hydrometrocolpos, Childhood-onset truncal obesity, Aplasia/Hypoplasia of the vagina, Hypoplasia o... ORPHA:110
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Meacham Syndrome
Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina OMIM:608978
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism OMIM:618188
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Fryns Syndrome
Large for gestational age, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tiss... OMIM:229850
Acrorenal-Mandibular Syndrome
Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus OMIM:200980
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Norrie Disease
Delayed puberty, Erectile dysfunction, Cachexia, Cryptorchidism, Failure to thrive, Diabetes mell... ORPHA:649
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Histiocytoid Cardiomyopathy
Cardiomegaly, Failure to thrive, Polycystic ovaries, Hepatomegaly ORPHA:137675
Pachydermoperiostosis
Hyperhidrosis, Splenomegaly, Elevated circulating growth hormone concentration, Hepatomegaly ORPHA:2796
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Micropenis, Uterus didelphys OMIM:617925
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... OMIM:107480
Orofaciodigital Syndrome I
Pancreatic cysts, Hypothalamic hamartoma, Ovarian cyst OMIM:311200
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Obesity, Parathyroid hypoplasia, Ovaria... OMIM:188400
Loeys-Dietz Syndrome
Tall stature, Uterine rupture ORPHA:60030
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Abnormal thymus morphology... OMIM:219000
Peters Plus Syndrome
Postnatal growth retardation, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congeni... ORPHA:709
Okamoto Syndrome
Severe postnatal growth retardation, Bifid uterus, Splenomegaly ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Thyroid hypoplasia,... OMIM:619503
Peters-Plus Syndrome
Postnatal growth retardation, Bilobate gallbladder, Hypospadias, Decreased body weight, Clitoral ... OMIM:261540
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy OMIM:265380
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Abnormal salivary gland morphology, Bicornuate uterus, Cryptorchidism, Xe... ORPHA:2363
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Decreased testi... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism ORPHA:93271
Hellp Syndrome
Increased body weight ORPHA:244242
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long peni... OMIM:268300
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286

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 Mir505

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 Mir505.

No publications found that use IMPC mice or data for Mir505.

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