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Gene: Hsd17b3 MGI:107177

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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:
hydroxysteroid (17-beta) dehydrogenase 3
Synonyms:
17(beta)HSD type 3

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 Hsd17b3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hsd17b3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300

The table below shows human diseases predicted to be associated to Hsd17b3 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
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea... OMIM:229070
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... ORPHA:180229
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
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
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Androgen Insensitivity Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... OMIM:300068
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased serum testosterone l... ORPHA:96181
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, ... ORPHA:3044
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum testosterone... ORPHA:247768
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... ORPHA:562
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... OMIM:612702
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... ORPHA:2232
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Limb... OMIM:612079
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
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, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Male pseudohermap... ORPHA:347
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious pubert... ORPHA:769
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ... ORPHA:2298
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... OMIM:616113
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Alg6-Cdg
Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Macrogloss... ORPHA:79320
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Pituitary Gigantism
Premature pubarche, Tall stature, Elevated circulating growth hormone concentration, Hyperhidrosi... ORPHA:99725
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, High palate, Primary amenorrhea OMIM:233400
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... ORPHA:3055
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased mus... ORPHA:465508
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating l... OMIM:618419
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Failure to ... OMIM:201100
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... ORPHA:100083
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature ORPHA:3000
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... ORPHA:3157
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... OMIM:615849
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Primary amen... OMIM:604168
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility, Hepatic steatosis OMIM:615703
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Obesity, Renal cyst, Stage 5 chronic kidney dis... OMIM:615993
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Cln3 Disease
Left ventricular hypertrophy, Vacuolated lymphocytes, Urinary bladder sphincter dysfunction, Incr... ORPHA:228346
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Cryptorchidism, Abn... OMIM:614736
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Obesity, High palate, Hypogonadism, Abnormal testis morphology ORPHA:2233
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Hypothalamic hamartoma, Abnor... ORPHA:649929
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Hepatic steatosis, Prematur... ORPHA:2959
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Fg Syndrome Type 1
Inguinal hernia, Hypospadias, Progressive flexion contractures, Abnormal large intestine morpholo... ORPHA:93932
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhea, Secondar... OMIM:603896
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Obesity, T... ORPHA:2377
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Cleft ... OMIM:300148
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Obesity, Azoospermia, Abnormality of the hyp... ORPHA:2183
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Myotonic Dystrophy 2
Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Generalized amyotrophy, Elevated circul... OMIM:602668
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... ORPHA:486815
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidi... OMIM:613457
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Urinary urgency, Upper limb muscle weakness, Decreased serum testos... OMIM:609195
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... OMIM:617253
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypospadias, Small for gestational age, Lipoatrophy, Cryptor... OMIM:264090
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, Disproportionat... ORPHA:3063
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hepati... OMIM:615996
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Cog2-Cdg
Small pituitary gland ORPHA:435934
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
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Severe B lymp... ORPHA:293978
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Hypopituit... ORPHA:1827
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormality of the diaphrag... OMIM:601163
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... ORPHA:752
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... OMIM:262190
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
48,Xxyy Syndrome
Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Abnormal response to corticotropin releasing... ORPHA:189427
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noni... ORPHA:97289
Ppoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97278
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesi... ORPHA:110
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormality of the ureter, Obesity,... ORPHA:3409
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Enlarged tonsils, Abnormal circulating insulin concentration, Truncal ... ORPHA:293964
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, High palate, Micropenis, Decre... ORPHA:457240
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, High palate, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Bladder diverticulum, Diabetes mellitus, Increased circulating androgen con... ORPHA:2976
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Congenital Myopathy 9A
Cryptorchidism, EMG: myopathic abnormalities, Obesity OMIM:618822
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, C... OMIM:246200
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Co... ORPHA:94065
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... OMIM:603233
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Central... ORPHA:169189
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Supernumerary nipple, Precocious puberty, Cryptorchidism, Anal atresia OMIM:619243
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Obesity, Hypogonadism, Camptod... OMIM:615547
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal... OMIM:613743
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Micropenis, Flexion contracture, Hypospadias, Small pituitary gland OMIM:619479
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy OMIM:160900
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:608594
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity, Renal hyp... ORPHA:464288
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi... ORPHA:264200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabete... ORPHA:276575
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Congenital muscular torticollis, Intestinal malrotati... ORPHA:2538
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Cholestasis, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes,... ORPHA:324575
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Po... ORPHA:65759
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small for gestational ag... ORPHA:464306
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... OMIM:618165
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contra... OMIM:151050
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ... ORPHA:813
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... OMIM:269700
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Nephrocalc... ORPHA:94086
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, W... OMIM:300055
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Obesity, Hydronephrosis, High palate, Micropenis, Decreased testicu... OMIM:619185
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower ex... ORPHA:280365
Orofaciodigital Syndrome Type 4
Monorchism, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Primary ad... ORPHA:2753
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Prader-Willi Syndrome
Decreased muscle mass, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia,... OMIM:176270
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha... OMIM:206900
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Obesity, Renal hypoplasia, Umbilical hernia, Micropenis ORPHA:171839
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Inguinal hernia, Abnormal dental enamel morphology, Cryptorch... ORPHA:96263
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow, Obesity, Tall stature OMIM:300602
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... ORPHA:264580
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619737
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... ORPHA:199244
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... ORPHA:495875
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, E... ORPHA:276556
Ulnar-Mammary Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Pyloric stenosis, Aplasia of the pe... ORPHA:3138
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... ORPHA:97360
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased response to growth hormone stim... ORPHA:273
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... OMIM:613987
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f... OMIM:619503
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrolith... OMIM:219090
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Obesity OMIM:600151
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Inguina... OMIM:181450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Dysmenorrhea, Splenomegaly, Limb-girdle muscle weakness, R... ORPHA:79240
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight... OMIM:617796
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Hy... ORPHA:263455
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Cleft palate, Arthro... ORPHA:254346
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, H... OMIM:615989
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o... OMIM:219080
Pde4D Haploinsufficiency Syndrome
Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated circulating par... ORPHA:439822
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Bi... OMIM:209900
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Myeloid leukemia, Neuroend... ORPHA:404443
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Pelvic mass, Precocious puberty, Jaundice, O... ORPHA:370348
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, ... ORPHA:85293
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Incre... ORPHA:905
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hi... ORPHA:466791
Noonan Syndrome 8
Left ventricular hypertrophy, Cryptorchidism, Failure to thrive, Large for gestational age OMIM:615355
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, Int... ORPHA:457485
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Overweight, Cryptorchidism, Flexion contracture, Hypogonadism, Micropenis, Dil... ORPHA:500055
Smith-Kingsmore Syndrome
Diastasis recti, Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia OMIM:616638
Carpenter Syndrome 1
Omphalocele, Hydroureter, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesit... OMIM:201000
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased response to grow... OMIM:146510
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight, Ascites ORPHA:890
Perlman Syndrome
Distal ileal atresia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age... OMIM:267000
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile... ORPHA:314588
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fi... ORPHA:99413
Turner Syndrome
Ectopic kidney, High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fi... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fi... ORPHA:99228
Monosomy X
Ectopic kidney, High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fi... ORPHA:99226
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation test, Small ... ORPHA:96182
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Overgrowth, Vesicoureteral reflux... ORPHA:261652
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Failure to thrive, Femoral hernia, Inguinal hernia, Renal insufficiency, Pro... ORPHA:96147
Somatomammotropinoma
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... ORPHA:314769
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Jaundice, Obesity,... OMIM:614231
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Hyperhidrosis, Unilateral renal hypoplasia,... ORPHA:2874
Chilton-Okur-Chung Neurodevelopmental Syndrome
Crossed fused renal ectopia, Hypospadias, Anterior pituitary hypoplasia, Aplasia of the right hem... OMIM:619841
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Proteinuria, Maturity-onset diabetes of the young, Unilateral ren... OMIM:137920
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Proportionate tall stature, Vesicoureteral ... ORPHA:96149
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, L... ORPHA:116
Kleefstra Syndrome 1
Hypospadias, Protruding tongue, Cryptorchidism, Obesity, Macroglossia, Micropenis OMIM:610253
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Decreased fertilit... ORPHA:870
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Hand muscle weakness, Fatty replacement of... ORPHA:98908
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... ORPHA:2588
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bil... ORPHA:69663
Sotos Syndrome
Cryptorchidism, High, narrow palate, Increased body weight, Narrow palate, Overgrowth, High palat... OMIM:117550
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... ORPHA:96191
Wagro Syndrome
Decreased testicular size, Proteinuria, Hypoplastic female external genitalia, Obesity OMIM:612469
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, High palate ORPHA:251071
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Increased body weight OMIM:182290
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo... ORPHA:261494
Pachydermoperiostosis
Hepatomegaly, Peptic ulcer, Elevated circulating growth hormone concentration, Malabsorption, Spl... ORPHA:2796
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate albuminuria, Dent... OMIM:619269
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmatic hernia, Large ... OMIM:614080
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... OMIM:188400
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Renal ... OMIM:229850
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Congenital diaphragmatic hernia, P... ORPHA:2322
Chops Syndrome
Splenomegaly, Cryptorchidism, High, narrow palate, Obesity, Horseshoe kidney, Vesicoureteral reflux OMIM:616368
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, Anteriorly placed anus, High pala... OMIM:618653
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Cleft palate, Perineal fistula, Anteriorly placed anus, Rec... OMIM:218600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Large for gestational age, Nephr... OMIM:616026
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,... OMIM:619534
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Pyl... ORPHA:1606
Gaisböck Syndrome
Diabetes mellitus, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin ... ORPHA:90041
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Type II diabetes mellitus, Obesity OMIM:618620
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Tendon xanthomatosis, Obesit... ORPHA:412
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Ab... ORPHA:79102
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Obesity, Renal hypoplasia, Macrogl... OMIM:309580
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... 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 Hsd17b3

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 Hsd17b3.

No publications found that use IMPC mice or data for Hsd17b3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hsd17b3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hsd17b3em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Hsd17b3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hsd17b3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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