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Gene: Prl3c1 MGI:1351649

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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:
prolactin family 3, subfamily c, member 1
Synonyms:
PLP-J,  Prlpj,  PLP I

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 Prl3c1 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 Prl3c1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature ORPHA:3000
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... ORPHA:90795
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Partington Syndrome
Macroorchidism ORPHA:94083
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity ORPHA:3055
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... ORPHA:95706
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Lujan-Fryns Syndrome
Macroorchidism, Disproportionate tall stature ORPHA:776
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, Abnormality ... ORPHA:397590
Fragile X Syndrome
Macroorchidism ORPHA:908
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
Intellectual Developmental Disorder, Autosomal Recessive 44
Shawl scrotum OMIM:615942
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum OMIM:615433
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Hypothalamic hamartoma, Abnor... ORPHA:649929
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370921
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Paternal Uniparental Disomy Of Chromosome X
Infertility, Micropenis, Decreased testicular size ORPHA:261524
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Shawl scrotum ORPHA:2256
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus OMIM:615703
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370924
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Failure to thrive, Hypospadias OMIM:618874
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive OMIM:615597
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Pituitary Gigantism
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... ORPHA:99725
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of the uret... ORPHA:2377
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Obesity OMIM:615993
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias ORPHA:2505
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Disproportionate tall stature, Tall stature OMIM:309520
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Kennedy Disease
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Hypothyroidism ORPHA:85321
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
X-Linked Intellectual Disability, Abidi Type
Decreased testicular size ORPHA:85273
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... ORPHA:127
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Adrenal insuffic... OMIM:617053
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Shawl scrotum OMIM:614187
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple ORPHA:64755
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive ORPHA:217346
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism ORPHA:1552
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism ORPHA:1912
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:618419
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:606851
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Decreased testicular size, Decreased body weight ORPHA:93950
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism ORPHA:1295
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Aarskog-Scott Syndrome
Cryptorchidism, Shawl scrotum ORPHA:915
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Failure to thrive, Hypogonadism, Decreased testicular... OMIM:201100
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test, Ove... ORPHA:457240
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroidism OMIM:300519
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis ORPHA:3134
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:614838
Penoscrotal Transposition
Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Shawl scrotum ORPHA:2842
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ... ORPHA:465508
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Alg6-Cdg
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration ORPHA:79320
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Glandular hypospadias, Shawl scrotum ORPHA:2575
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Shawl scrotum OMIM:239710
3Mc Syndrome 3
Bifid scrotum, Cryptorchidism, Micropenis, Penoscrotal hypospadias OMIM:248340
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... ORPHA:280679
Craniofrontonasal Dysplasia
Hypospadias, Shawl scrotum ORPHA:1520
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Cryptorchidism, Failure to thrive, Hypospadias OMIM:613026
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Disproportionate tall stature, Abnormality of the Leydig cells, Test... ORPHA:3063
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Type I... ORPHA:10
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Cryptorchidism, Delayed puberty ORPHA:486815
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II d... ORPHA:96263
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia OMIM:605231
Chung-Jansen Syndrome
Cryptorchidism, Obesity OMIM:617991
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis OMIM:312830
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Hypospadias ORPHA:66629
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Obesity ORPHA:3409
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Carpenter Syndrome
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia, Obesity ORPHA:65759
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Abnormal mo... ORPHA:887
Lymphatic Filariasis
Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Abnormality of the scrotum ORPHA:2035
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:2083
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Delayed puberty, Hypere... ORPHA:456312
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... ORPHA:2959
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum OMIM:600460
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... ORPHA:3157
Joubert Syndrome 37
Cryptorchidism, Micropenis, Decreased testicular size, Obesity OMIM:619185
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe ORPHA:1555
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, Penoscrotal transp... ORPHA:227
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Decreased body weight, Micropenis, Failure to thrive, Penoscrotal ... OMIM:617164
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Warburg Micro Syndrome 4
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size OMIM:615663
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Hypospadias, Obesity ORPHA:171839
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... ORPHA:94065
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis ORPHA:2282
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition OMIM:619148
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypoplasia of the thymus, Inc... OMIM:264090
Dowling-Degos Disease
Scrotal hyperpigmentation, Penile freckling ORPHA:79145
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Decreased body weight, Micropenis, Shawl scrotum OMIM:300895
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
20Q11.2 Microduplication Syndrome
Bifid scrotum, Cryptorchidism, Micropenis ORPHA:363659
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Ambiguous genitalia, Micro... OMIM:257300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cryptorchidism, Small scrotum, Breast hypoplasia, Shawl scrotum OMIM:601353
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias ORPHA:1784
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Obesity, Hypogonadism, Micropenis OMIM:615547
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Hashimoto thyroiditis ORPHA:49041
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Hypogonadism ORPHA:2983
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth OMIM:605309
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Ohdo Syndrome
Cryptorchidism, Small scrotum OMIM:249620
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Small for gestational age OMIM:610756
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Gm1 Gangliosidosis
Failure to thrive, Abnormality of the scrotum, Weight loss ORPHA:354
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Type II diabetes m... ORPHA:96264
Barber-Say Syndrome
Failure to thrive, Breast aplasia, Hypoplastic nipples, Shawl scrotum ORPHA:1231
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity ORPHA:464288
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Delayed puberty, Failure to thrive, Hypothyroidism, Shawl... OMIM:616263
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Small for gestational age, Supernumerary nipple, Glandular hypospadias, Hypoplastic ... OMIM:604314
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidrosis, Ambiguous genita... OMIM:610644
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, Hypoplastic nipples, Micropenis OMIM:615546
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micropenis, Small scrotum, Decreased testicular size OMIM:614222
Warburg Micro Syndrome 2
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum OMIM:614225
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism OMIM:617796
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum ORPHA:2728
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum OMIM:301040
Craniofrontonasal Syndrome
Hypospadias, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast hypoplasia OMIM:304110
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism OMIM:619950
Noonan Syndrome 8
Cryptorchidism, Failure to thrive, Large for gestational age OMIM:615355
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
17Q23.1Q23.2 Microdeletion Syndrome
Failure to thrive, Shawl scrotum ORPHA:261279
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Micropenis, Failure to thrive OMIM:607143
Meier-Gorlin Syndrome 1
Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Sh... OMIM:224690
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Large for gestational age ORPHA:169189
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum ORPHA:98905
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum ORPHA:2211
20Q13.33 Microdeletion Syndrome
Small for gestational age, Hypospadias, Decreased scrotal rugation, Failure to thrive in infancy ORPHA:261311
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Small fo... ORPHA:268261
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Decreased testicular size ORPHA:85293
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Enlarged polycystic ov... ORPHA:744
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum ORPHA:1968
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... ORPHA:2745
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism OMIM:614231
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Neuroendocrine neoplasm, Proportionate tall stature, Obesity ORPHA:404443
Beta-Ureidopropionase Deficiency
Bifid scrotum OMIM:613161
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Trisomy 1Q
Ambiguous genitalia, Cryptorchidism, Small scrotum ORPHA:261344
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Large for gestational age ORPHA:457485
Luscan-Lumish Syndrome
Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries OMIM:616831
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Noonan Syndrome 5
Cryptorchidism, Large for gestational age OMIM:611553
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Bachmann-Bupp Syndrome
Cryptorchidism, Large for gestational age OMIM:619075
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Shawl scrotum OMIM:227330
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Hypothyroidism ORPHA:254346
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Hypoplastic labia minora, Small scrotum, Hypoplastic labia majora ORPHA:324540
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni... ORPHA:3138
Smith-Kingsmore Syndrome
Cryptorchidism, Large for gestational age OMIM:616638
Wagro Syndrome
Hypoplastic female external genitalia, Decreased testicular size, Obesity OMIM:612469
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Large for gestational age, Cryptorchidism,... OMIM:229850
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hypospadias OMIM:123790
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Micropenis, Small scrotum, Small for gestational age OMIM:609625
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Failure to thri... OMIM:613803
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe... OMIM:181450
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Overweight, Cryptorchidism, Hypogonadism, Micropenis, Dilated third ventricle ORPHA:500055
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Large for gestational age, Decreased response to growth hormone stimulation test, Supernumerary n... OMIM:213980
Kleefstra Syndrome 1
Cryptorchidism, Micropenis, Hypospadias, Obesity OMIM:610253
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Robinow Syndrome
Small scrotum, Small for gestational age, External genital hypoplasia, Cryptorchidism, Micropenis... ORPHA:97360
Werner Syndrome
Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypogonadism, Thyroid carcinoma, Typ... ORPHA:902
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Genitopatellar Syndrome
Cryptorchidism, Small scrotum, Clitoral hypertrophy ORPHA:85201
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Ambiguous geni... ORPHA:96176
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism, Failur... ORPHA:2990
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Bardet-Biedl Syndrome 17
Micropenis, Hypogonadism, Obesity OMIM:615994
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... OMIM:209900
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Failure to thrive, Cryptorchidism, Obesity, Abnormal testis morphology ORPHA:96147
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Recombinant 8 Syndrome
Cryptorchidism, Small scrotum, Hypoplastic male external genitalia ORPHA:96167
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Distal Triplication 15Q
Hydrocele testis, Birth length greater than 97th percentile, Abnormal external genitalia, Large f... ORPHA:314588
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Micropenis OMIM:609945
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormality of the adre... ORPHA:138
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Pudendal Neuralgia
Dyspareunia, Impotence, Scrotal pain ORPHA:60039
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Obesity, Weight loss ORPHA:251071
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Hypogonadism, Hypohidrosis ORPHA:3253
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... OMIM:270400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea, ... ORPHA:264580
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Sotos Syndrome
Cryptorchidism, Overgrowth, Increased body weight, Tall stature OMIM:117550
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Crypto... ORPHA:857
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cryptorchidism, Small scrotum ORPHA:2215
Bent Bone Dysplasia Syndrome 2
Micropenis, Shawl scrotum OMIM:620076
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Hypoplastic nipples, Sha... OMIM:614976
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Somatomammotropinoma
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... ORPHA:314769
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligomenorrhea OMIM:219090
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea ORPHA:79240
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Micropenis, Small scrotum ORPHA:495818
Elsahy-Waters Syndrome
Bilateral cryptorchidism, Hypospadias, Bifid scrotum, Penoscrotal hypospadias OMIM:211380
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic isl... ORPHA:263455
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Rubinstein-Taybi Syndrome 1
Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidism, Cryptorchi... OMIM:180849
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum OMIM:618479
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99226
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari... ORPHA:2044
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Autosomal Recessive Faciodigitogenital Syndrome
Shawl scrotum ORPHA:1974
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Alkuraya-Kucinskas Syndrome
Micropenis, Small scrotum OMIM:617822
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Overweight, Obesity, Decreased body weight, Micropenis, Failure to th... OMIM:619475
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Small scrotum, Microphallus, Supernumerary nipple OMIM:618454
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Cholelithiasis, Pancreatitis ORPHA:69663
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Obesity, Supernumerary nipple OMIM:618653
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight OMIM:182290
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Mowat-Wilson Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:235730
Microphthalmia, Syndromic 6
Failure to thrive, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anteri... OMIM:607932
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum OMIM:617667
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias OMIM:616734
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Decreased testicul... OMIM:309580
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypoplasia, Micropenis, Hypothyroidi... OMIM:606170
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Oligomenor... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... ORPHA:261537
Fontaine Progeroid Syndrome
Absent nipple, Small scrotum, Small for gestational age, Cryptorchidism, Hypoplastic labia majora... OMIM:612289
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Small for gestational age, Bile duct proliferation, Failure to thrive, Slender build OMIM:613658
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... ORPHA:261552
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortical carcinoma, A... ORPHA:116
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... ORPHA:79318
Pallister-Killian Syndrome
Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Obesity, Hypohidros... OMIM:601803
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum OMIM:620330
Hellp Syndrome
Increased body weight ORPHA:244242

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 Prl3c1

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 Prl3c1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Origin of a rapidly evolving homeostatic control system programming testis function. The Journal of endocrinology (June 2017) Prl3c1tm1(KOMP)Vlcg PMC5529123

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Prl3c1tm373724(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Prl3c1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Prl3c1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prl3c1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prl3c1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prl3c1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prl3c1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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