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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Tall stature, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... OMIM:400044
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
47,Xyy Syndrome
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone l... ORPHA:8
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Cryptorchidi... OMIM:300869
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Partington Syndrome
Macroorchidism ORPHA:94083
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis, Decreased serum... OMIM:614962
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Tall stature, Azoospermia, ... OMIM:400045
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor... ORPHA:289548
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Tall stature, Decreased fertility, Weight loss, Abnor... ORPHA:90794
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Clark-Baraitser syndrome
Tall stature, Obesity, Macroorchidism OMIM:300602
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Micropenis, External genital hypoplasia OMIM:615983
Ovarian Dysgenesis 4
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:616185
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Cryptorchidism, Te... OMIM:615542
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Aromatase Deficiency
Female infertility, Male infertility, Tall stature, Obesity, Ambiguous genitalia, female, Female ... ORPHA:91
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hypogonadotr... OMIM:610628
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hyperactive renin-angiotensin system, Abnormal female external genitalia morph... ORPHA:90790
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Silver-Russell Syndrome Due To A Point Mutation
Microphallus, Bifid scrotum, Abnormal scrotum morphology, Cryptorchidism, Dysmenorrhea, Hypothyro... ORPHA:397590
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Lujan-Fryns Syndrome
Macroorchidism, Disproportionate tall stature ORPHA:776
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia OMIM:615982
Non-Syndromic Posterior Hypospadias
Small for gestational age, Bifid scrotum, Androgen insufficiency, Cryptorchidism, Displacement of... ORPHA:95706
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
Intellectual Developmental Disorder, Autosomal Recessive 44
Shawl scrotum OMIM:615942
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Macroorchidism OMIM:300055
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology ORPHA:2233
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... OMIM:601820
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Fragile X Syndrome
Macroorchidism ORPHA:908
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Decreased testicular size, Cryptorchidism, Shawl scrotum OMIM:615433
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:363741
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum ORPHA:93328
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... ORPHA:95619
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Breast hypoplasia, Hyperinsulinemia, Abse... ORPHA:785
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ambiguous gen... OMIM:300219
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Stt3A-Cdg
Micropenis, Small scrotum, Failure to thrive, Cryptorchidism ORPHA:370921
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Cryptorchidism, Shawl scrotum ORPHA:2256
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Stt3B-Cdg
Micropenis, Small scrotum, Failure to thrive, Cryptorchidism ORPHA:370924
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Failure to thrive OMIM:618874
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Failure to thrive, Cryptorchidism OMIM:615597
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus, External genital hypoplasia OMIM:615981
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Intellectual Developmental Disorder, Autosomal Dominant 72
Micropenis, Tall stature, Obesity, Shawl scrotum OMIM:620439
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Bardet-Biedl Syndrome 16
External genital hypoplasia, Obesity, Hypogonadism OMIM:615993
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Pituitary Gigantism
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth... ORPHA:99725
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Central adrena... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Central adrena... ORPHA:71526
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... OMIM:614963
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Hypospadias OMIM:617516
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Shawl scrotum OMIM:614187
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Delayed pubert... OMIM:300148
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Tall stature, Macroorchidism, Disproportionate tall stature OMIM:309520
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Morbid Obesity And Spermatogenic Failure
Obesity, Azoospermia, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Becker Nevus Syndrome
Hypoplastic labia minora, Abnormal scrotum morphology, Supernumerary nipple ORPHA:64755
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Small scrotum, Abnormal scrotum morphology, Cryptorchidism ORPHA:2505
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Hypoplas... ORPHA:2377
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism, Microphallus, Abdominal obesity ORPHA:631
Currarino Syndrome
Male pseudohermaphroditism, Hypospadias, Hypoplasia of penis, Bifid scrotum ORPHA:1552
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Decreased body we... OMIM:617053
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Hypothyroidism, Cryptorchidism, Bifid scrotum ORPHA:85321
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Hypoplas... ORPHA:127
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Bifid scrotum ORPHA:1295
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... OMIM:618419
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Decreased circulating cortisol level, Hyp... OMIM:600955
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Penoscrotal Transposition
Penoscrotal transposition, Abnormal external genitalia, Hypospadias, Shawl scrotum ORPHA:2842
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Breast hypoplasia, Obesity, Decreased testicula... ORPHA:478
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Cree Impaired Intellectual Development Syndrome
Hypospadias, Cryptorchidism, Bifid scrotum OMIM:606851
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Trisomy 5P
Obesity, Hypoplasia of penis ORPHA:1742
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Chordee, Hypothyroidism, Micropenis OMIM:300519
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
19Q13.11 Microdeletion Syndrome
Failure to thrive, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Cachexia, Hypospadias ORPHA:217346
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Fetal Hydantoin Syndrome
Cryptorchidism, Bifid scrotum ORPHA:1912
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Glandular hypospadias, Hypospadias, Shawl scrotum ORPHA:2575
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism OMIM:615633
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea... ORPHA:91347
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Cryptorchidism, Hypospadias, Diabetes mellitus OMIM:614613
Aarskog-Scott Syndrome
Cryptorchidism, Shawl scrotum ORPHA:915
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Overweight, Mic... ORPHA:457240
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Shawl scrotum OMIM:239710
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroi... OMIM:158350
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
17Q12 Microdeletion Syndrome
Diabetes mellitus, Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias ORPHA:3134
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Craniofrontonasal Dysplasia
Hypospadias, Shawl scrotum ORPHA:1520
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Tall stature, Large for gestational age, Overgrowth ORPHA:137634
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Bifid scrotum ORPHA:66629
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Hyperhidrosis ORPHA:2073
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Renal Nutcracker Syndrome
Varicocele, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Infertility ORPHA:71273
Lymphatic Filariasis
Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Epididymitis ORPHA:2035
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
48,Xxyy Syndrome
Tall stature, Obesity, Azoospermia, Decreased testicular size, Cryptorchidism, Type II diabetes m... ORPHA:10
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Tall stature, Obesity, Decreased testicular size, Azoospermia, Crypt... ORPHA:96263
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Urban-Rogers-Meyer Syndrome
Hypogonadism, Hypoplasia of penis, Obesity, Cryptorchidism ORPHA:3409
Pudendal Neuralgia
Scrotal pain, Dyspareunia, Erectile dysfunction ORPHA:60039
Bardet-Biedl Syndrome 19
External genital hypoplasia, Obesity, Hypogonadism OMIM:615996
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, De... ORPHA:456312
3Mc Syndrome 3
Micropenis, Penoscrotal hypospadias, Cryptorchidism, Bifid scrotum OMIM:248340
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Hypospadias, Failure to thrive, Cryptorchidism OMIM:613026
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Delayed puberty, Cryptorchidism ORPHA:486815
Chung-Jansen Syndrome
Obesity, Cryptorchidism OMIM:617991
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... ORPHA:79644
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism ORPHA:228390
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Perineal hypospadias OMIM:312830
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess, Sex reversal OMIM:613743
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Small scrotum, Cryptorchidism ORPHA:1970
Dowling-Degos Disease
Scrotal hyperpigmentation, Penile freckling ORPHA:79145
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... ORPHA:3455
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp... OMIM:616113
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias, Disproportionat... ORPHA:3063
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Truncal obesit... ORPHA:96184
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Acrofrontofacionasal Dysostosis
Hypospadias, Bifid scrotum ORPHA:1784
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Ambiguous genita... ORPHA:887
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Carpenter Syndrome
Abnormal reproductive system morphology, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:65759
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Small scrotum, Hypoplasia of penis ORPHA:2983
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplas... ORPHA:3157
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Class III obesity, Failure to thrive in infancy, Decreased res... OMIM:176270
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe ORPHA:1555
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration, Failure to thrive ORPHA:79320
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Failure to thrive, Decreased serum testosterone concentr... OMIM:201100
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Hashimoto thyroiditis, Weight loss, Retrograde ejaculation, Hydrocele testis, Impotence ORPHA:49041
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Cryptorchidism, Micropenis OMIM:615547
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Micropenis, Hypospadias, Cryptorchidism, Shawl scrotum OMIM:600460
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Small for gestational age OMIM:610756
Short Stature-Micrognathia Syndrome
Small scrotum, Failure to thrive, Cryptorchidism, Decreased body weight, Penoscrotal hypospadias,... OMIM:617164
15Q24 Microdeletion Syndrome
Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Obesity, ... ORPHA:94065
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Joubert Syndrome 37
Micropenis, Decreased testicular size, Obesity, Cryptorchidism OMIM:619185
Wiedemann-Rautenstrauch Syndrome
Long penis, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Increased serum testoste... OMIM:264090
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis, Hypospadias ORPHA:2282
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Hypospadias, Small for gestational age OMIM:619148
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Obesity, Hypospadias, Cryptorchidism ORPHA:171839
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Decreased body weight, Shawl scrotum, Micropenis OMIM:300895
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Barber-Say Syndrome
Breast aplasia, Hypoplastic nipples, Failure to thrive, Shawl scrotum ORPHA:1231
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... ORPHA:90695
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Micropenis, Hypospadias, Small for gestationa... OMIM:257300
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
20Q11.2 Microduplication Syndrome
Micropenis, Cryptorchidism, Bifid scrotum ORPHA:363659
Warburg Micro Syndrome 4
Micropenis, Small scrotum, Cryptorchidism, Decreased testicular size OMIM:615663
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Penile freckling, Overgrowth, Hydrocele testis OMIM:605309
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Pancreatic... OMIM:616263
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Gm1 Gangliosidosis
Weight loss, Abnormal scrotum morphology, Failure to thrive ORPHA:354
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Breast hypoplasia, Cryptorchidism, Shawl scrotum OMIM:601353
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Supernumerary nipple, Glandular hypospadias, Hypoplastic labia majora, Shawl scrotum, Hypospadias... OMIM:604314
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... ORPHA:276608
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Ohdo Syndrome
Small scrotum, Cryptorchidism OMIM:249620
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Micropenis, Small scrotum, Cryptorchidism, Microphallus OMIM:300486
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
17Q23.1Q23.2 Microdeletion Syndrome
Failure to thrive, Shawl scrotum ORPHA:261279
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Cryptorchidism, Pseudohypoparathyroidism ORPHA:464288
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Van Maldergem Syndrome 2
Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Hypospadias OMIM:615546
Retinitis Pigmentosa
Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Shawl scrotum, Hypospadias, Epispadias ORPHA:2211
Intellectual Developmental Disorder, Autosomal Dominant 52
Bilateral cryptorchidism, Cryptorchidism, Hypothyroidism, Overweight, Small for gestational age OMIM:617796
20Q13.33 Microdeletion Syndrome
Failure to thrive in infancy, Decreased scrotal rugation, Hypospadias, Small for gestational age ORPHA:261311
13Q12.3 Microdeletion Syndrome
Obesity, Failure to thrive, Cryptorchidism ORPHA:412035
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Failure to thrive OMIM:619950
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Micropenis, Hypospadias, Cryptorchidism, Shawl scrotum OMIM:301040
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,... ORPHA:189427
Warburg Micro Syndrome 2
Micropenis, Small scrotum, Hypoplastic labia majora, Cryptorchidism OMIM:614225
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Obesity, Pancreatitis, Micropenis OMIM:619471
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Warburg Micro Syndrome 3
Micropenis, Small scrotum, Hypoplastic labia minora, Decreased testicular size OMIM:614222
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Obesity, Childhood-onset truncal obesity, Hyperinsulinemia ORPHA:71529
Noonan Syndrome 8
Large for gestational age, Failure to thrive, Cryptorchidism OMIM:615355
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Craniofrontonasal Syndrome
Breast hypoplasia, Cryptorchidism, Unilateral breast hypoplasia, Shawl scrotum, Hypospadias OMIM:304110
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Absence ... ORPHA:495875
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, Small for gestational age OMIM:607143
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Breast aplas... ORPHA:268261
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism ORPHA:2728
Luscan-Lumish Syndrome
Irregular menstruation, Overgrowth, Obesity, Polycystic ovaries OMIM:616831
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Diabetes mellitus OMIM:614231
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Failure to thrive, Breast hypoplasia, Cryptorchidism, Hypoplastic labia maj... OMIM:224690
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Cryptorchidism ORPHA:169189
Congenital Multicore Myopathy With External Ophthalmoplegia
Micropenis, Small scrotum, Cryptorchidism ORPHA:98905
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Small for gestational age, Abnormal thalamus morphology, Insulin-resis... ORPHA:2959
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Small scrotum, Hypoplastic labia majora, Hypoplastic labia minora, Bifid scrotum ORPHA:324540
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Cachexia, Hyperhidrosis, Hypoplasia of penis ORPHA:85293
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Hyperinsulinemia OMIM:618406
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis OMIM:300860
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypoplastic labia majora, Hypospadias, Prominent scrotal raphe OMIM:123790
Obesity And Hypopigmentation
Overgrowth, Obesity, Hyperinsulinemia OMIM:620195
Ulnar-Mammary Syndrome
Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Cryptorchidism, Hypoplas... ORPHA:3138
Mody
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... ORPHA:552
Tatton-Brown-Rahman Syndrome
Obesity, Neuroendocrine neoplasm, Cryptorchidism, Proportionate tall stature ORPHA:404443
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... ORPHA:2745
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Cryptorchidism, Hypothyroidism, Hypospadias ORPHA:254346
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Hypospadias, Cryptorchidism ORPHA:457485
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... OMIM:181450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased r... ORPHA:226307
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Dilated third ventricle, Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Overweight ORPHA:500055
Flat Face-Microstomia-Ear Anomaly Syndrome
Small scrotum, Cryptorchidism ORPHA:1968
Bachmann-Bupp Syndrome
Large for gestational age, Cryptorchidism OMIM:619075
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Trisomy 1Q
Small scrotum, Ambiguous genitalia, Cryptorchidism ORPHA:261344
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Noonan Syndrome 5
Large for gestational age, Cryptorchidism OMIM:611553
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Large for gestational age, Shawl scrotum, ... OMIM:213980
Beta-Ureidopropionase Deficiency
Bifid scrotum OMIM:613161
Meningioma
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Increased circulating ... ORPHA:2495
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Shawl scrotum OMIM:227330
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... ORPHA:744
Ring Chromosome 13 Syndrome
Bifid scrotum, Primary hypothyroidism, Ambiguous genitalia, Urogenital sinus anomaly, Hypoplasia ... ORPHA:96176
Fryns Syndrome
Hypospadias, Bifid scrotum, Large for gestational age, Cryptorchidism, Shawl scrotum, Bicornuate ... OMIM:229850
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos OMIM:615989
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Micropenis OMIM:615994
Chromosome 10Q26 Deletion Syndrome
Micropenis, Small scrotum, Small for gestational age, Cryptorchidism OMIM:609625
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased circulating p... OMIM:131100
Wagro Syndrome
Decreased testicular size, Obesity, Hypoplastic female external genitalia OMIM:612469
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypop... ORPHA:95494
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Failure to thrive, Hypogonadism, Cryptorchidism, Absence of labia majora, Hypoplas... ORPHA:2990
Meier-Gorlin Syndrome 3
Small scrotum, Clitoral hypertrophy, Failure to thrive, Breast hypoplasia, Hypoplastic labia mino... OMIM:613803
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Obesity, Hypogonadism, Micropenis, Nephrogen... OMIM:209900
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Kleefstra Syndrome 1
Micropenis, Obesity, Hypospadias, Cryptorchidism OMIM:610253
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Cryptorchidism ORPHA:85201
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypogonadism, Small scrotum, Hypohidrosis ORPHA:3253
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Cryptorchidism, Abnormal testis morphology, Hypoplasia of penis ORPHA:96147
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Hypospadias... OMIM:612651
Bent Bone Dysplasia Syndrome 2
Micropenis, Shawl scrotum OMIM:620076
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Dysmenorrhea, Increased body weight, Polycystic ovarie... ORPHA:264580
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum ORPHA:1519
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Cryptorchidism, Micropenis, Hypospadias, Clitoral hypoplasia OMIM:609945
Recombinant 8 Syndrome
Small scrotum, Hypoplastic male external genitalia, Cryptorchidism ORPHA:96167
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Increased body weight, Polycystic ovaries, Oligomenorrhea ORPHA:79240
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Distal Triplication 15Q
Birth length greater than 97th percentile, Large for gestational age, Hydrocele testis, Abnormal ... ORPHA:314588
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Hypogonadotropic... ORPHA:138
Blue Diaper Syndrome
Increased body weight, Decreased circulating T4 concentration, Elevated circulating thyroid-stimu... ORPHA:94086
14Q22Q23 Microdeletion Syndrome
Small scrotum, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes insipi... ORPHA:264200
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Failure to thrive, Bifid scrotum, Septate vagina, Cryptorchidi... OMIM:270400
Sotos Syndrome
Increased body weight, Tall stature, Cryptorchidism, Overgrowth OMIM:117550
Townes-Brocks Syndrome
Abnormal vagina morphology, Failure to thrive, Abnormality of the uterus, Bifid scrotum, Cryptorc... ORPHA:857
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Acromegaly
Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Tall stature... ORPHA:963
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Hypospadias, Cryptorchidism ORPHA:251071
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Congenital Hyperinsulinism Due To Hnf4A Deficiency