Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cyp11a1 MGI:88582

Gene Summary

Name:

cytochrome P450, family 11, subfamily a, polypeptide 1

Synonyms:

P450scc, D9Ertd411e, cscc, cholesterol side chain cleavage, Cyp11a, Scc

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Cyp11a1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Anti-nuclear antibody assay

Images

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

View images

X-ray

XRay Images Forepaw

6 Images

View images

X-ray

XRay Images Skull Lateral Orientation

6 Images

View images

DSS Histology

Images

6 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Ear epidermis immunophenotyping

Images

3 Images

View images

Legacy Phenotype Associated Images

Cyp11a1^{tm1b(EUCOMM)Hmgu}
HET, Male, WTSI

View all 30 images

Cyp11a1^{tm1b(EUCOMM)Hmgu}
head, abnormal snout morphology, HET, Male, WTSI

Cyp11a1^{tm1b(EUCOMM)Hmgu}
eye, abnormal eye morphology, eye opacity, corneal opacity, WT, Female, WTSI

Cyp11a1^{tm1b(EUCOMM)Hmgu}
eye opacity, eye, abnormal eye morphology, corneal opacity, HET, Female, WTSI

Cyp11a1^{tm1b(EUCOMM)Hmgu}
HOM, Female, WTSI

Cyp11a1^{tm1b(EUCOMM)Hmgu}
abnormal cornea morphology, HET, Male, WTSI

Human diseases caused by Cyp11a1 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.

Human diseases associated with Cyp11a1 (3 diseases)
Human diseases predicted to be associated with Cyp11a1 (601 diseases)

The table below shows human diseases associated to Cyp11a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743

The table below shows human diseases predicted to be associated to Cyp11a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Combined Oxidative Phosphorylation Deficiency 50	Decreased activity of mitochondrial complex IV, Adrenal insufficiency	OMIM:619025
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556037
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c...	ORPHA:556030
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc...	ORPHA:90791
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch...	ORPHA:753
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo...	OMIM:264600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale...	OMIM:614736
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Congenital diaphragmatic hernia, Sex reversal, Growth del...	ORPHA:139466
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas...	OMIM:610600
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Hypoplastic labia minora, Abs...	ORPHA:495875
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti...	ORPHA:481
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M...	ORPHA:90790
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
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
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
46,Xy Sex Reversal 9	Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia	OMIM:616067
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Calf muscle hypertrophy,...	OMIM:313200
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skel...	OMIM:300219
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Absent scrotum, Aggressive behavior, Gait ataxia	OMIM:618479
Mitochondrial Complex I Deficiency, Nuclear Type 16	Decreased activity of mitochondrial complex I, Adrenal insufficiency	OMIM:618238
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Abnormali...	ORPHA:397590
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Sex reversal, Adrenal gland agenesis, In...	OMIM:611812
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar...	ORPHA:93111
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc...	OMIM:614732
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Decreased activity of mitochondrial complex III, Decreased a...	OMIM:619386
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Intellectual Developmental Disorder, Autosomal Recessive 44	Shawl scrotum	OMIM:615942
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism	OMIM:145260
8P23.1 Duplication Syndrome	Adrenal insufficiency	ORPHA:251076
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis, Decreased te...	OMIM:615433
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Cryptorchidi...	ORPHA:95706
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Death in infancy, Micropenis, Ataxia	OMIM:300067
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Cry...	OMIM:617053
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr...	OMIM:308750
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia...	ORPHA:456328
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Ataxia	OMIM:613909
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati...	OMIM:137920
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid gland, Decreased fe...	ORPHA:2234
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Spermatogenic Failure 2	Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az...	OMIM:108420
Autosomal Dominant Omodysplasia	Bifid scrotum, Hypoplasia of penis, Rhizomelia, Cryptorchidism, Ambiguous genitalia	ORPHA:93328
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:617872
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa...	ORPHA:85138
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level	OMIM:202150
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism	OMIM:264350
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ...	ORPHA:453533
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ...	OMIM:177735
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig...	OMIM:612651
Stankiewicz-Isidor Syndrome	Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis	OMIM:617516
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Small scrotum, Tibialis ant...	ORPHA:98905
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor...	ORPHA:254516
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Hypoplastic labia minora, Abnormality of the scrotum, Supernumera...	ORPHA:64755
Aarskog-Scott Syndrome	Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc...	OMIM:305400
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea...	OMIM:229070
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Shawl scrotum	ORPHA:2256
Bangstad Syndrome	Ataxia, Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries...	ORPHA:1227
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Spermatogenic Failure 77	Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co...	OMIM:620103
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level	ORPHA:43
Wolman Disease	Adrenal insufficiency, Adrenal calcification, Steatorrhea	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Death in childhood, Intrauterine growth retardation, Micropenis	OMIM:615597
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Shawl scrotum	ORPHA:85277
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Ataxia, Sh...	OMIM:616113
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Diabetes mellitus, Ataxia, Facial palsy, Foot joint contracture, Mild postnatal growth retardatio...	ORPHA:456312
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Ambiguous gen...	ORPHA:168593
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
46,Xx Sex Reversal 3	Sex reversal	OMIM:300833
46,Xy Sex Reversal 2	Sex reversal	OMIM:300018
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolactin level, Elevated ...	OMIM:615842
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Central Diabetes Insipidus	Hyponatremia, Anorexia, Lethargy, Polydipsia, Diabetes insipidus	ORPHA:178029
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 Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ...	ORPHA:95512
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
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
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism	OMIM:614495
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroi...	OMIM:618183
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
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena...	ORPHA:199296
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Short stature, Cryptorchidism, Abnormality of the scrotum	ORPHA:2505
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis...	ORPHA:398079
Webb-Dattani Syndrome	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:615926
Aarskog-Scott Syndrome	Short stature, Camptodactyly of finger, Cryptorchidism, Attention deficit hyperactivity disorder,...	ORPHA:915
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi...	ORPHA:199299
Renal Agenesis	Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A...	OMIM:235200
Myotonic Dystrophy 1	Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ...	OMIM:160900
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Decreased c...	OMIM:615577
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Hypog...	ORPHA:127
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Short stature, Cryptorchidism, Hypothyroidism	ORPHA:85321
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Bifid scrotum	ORPHA:1547
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Hyperchol...	ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Decreased activity of mitochondrial compl...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Decreased activity of mitochondrial compl...	OMIM:618839
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism,...	ORPHA:171876
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum, Intrauterine growth retardation	ORPHA:370924
Fetal Hydantoin Syndrome	Bifid scrotum, Cryptorchidism, Short stature, Intrauterine growth retardation	ORPHA:1912
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ...	OMIM:231550
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Increase...	ORPHA:465508
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism	OMIM:614496
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon...	OMIM:240300
Nelson Syndrome	Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort...	ORPHA:199244
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal	ORPHA:85112
Fanconi Anemia, Complementation Group O	Death in infancy, Short stature, External genital hypoplasia, Miscarriage, Cryptorchidism, Small ...	OMIM:613390
Renal Hypoplasia, Bilateral	Hyponatremia, Short stature, Cryptorchidism, Hyperkalemia, Growth delay, Lethargy	ORPHA:97362
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous...	ORPHA:752
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Warburg Micro Syndrome 4	Decreased muscle mass, Small scrotum, Short stature, Inability to walk, Cryptorchidism, Flexion c...	OMIM:615663
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Autosomal Recessive Amelia	Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:1027
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism	ORPHA:1295
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Abnormal upper motor n...	ORPHA:275872
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia	OMIM:601163
Wolfram Syndrome 1	Diabetes mellitus, Ataxia, Diabetes insipidus, Growth delay, Dysphagia, Hypothyroidism, Testicula...	OMIM:222300
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ...	ORPHA:398069
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Diabetes mellitus, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growth retardation, Achi...	OMIM:616263
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti...	ORPHA:231632
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Bicornuate uterus, Congenital diaphragmatic hernia	OMIM:615524
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va...	OMIM:615109
Sheehan Syndrome	Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced...	ORPHA:91355
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata...	ORPHA:96184
Laurence-Moon Syndrome	Micropenis, Small scrotum, Ataxia, Short stature	OMIM:245800
3-Methylglutaconic Aciduria, Type V	Hypospadias, Ataxia, Postnatal growth retardation, Cryptorchidism, Nonprogressive cerebellar atax...	OMIM:610198
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati...	ORPHA:180229
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism	ORPHA:1552
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism	OMIM:617575
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Decreased circulatin...	OMIM:203400
Craniofrontonasal Dysplasia	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Shawl scrotum	ORPHA:1520
17Q12 Microdeletion Syndrome	Diabetes mellitus, Short stature, Cryptorchidism, Shawl scrotum, Pancreatic aplasia	ORPHA:261265
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Snakebite Envenomation	Hyponatremia, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Muscle fiber necro...	ORPHA:449285
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Salt craving, Hyperc...	ORPHA:95409
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine grow...	ORPHA:217346
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Elevated circu...	ORPHA:682
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ...	OMIM:264300
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
3Mc Syndrome 3	Bifid scrotum, Short stature, Diastasis recti, Cryptorchidism, Growth delay, Micropenis, Penoscro...	OMIM:248340
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Scarf Syndrome	Bifid scrotum, Diastasis recti, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Microp...	ORPHA:3134
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
East Syndrome	Salt craving, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating r...	ORPHA:199343
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Hypospadias, Short stature, Shawl scrotum	OMIM:239710
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Liddle Syndrome 2	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Cryptorchidism, Shawl scrotum	ORPHA:1778
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te...	OMIM:606407
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus	ORPHA:2047
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Growth d...	OMIM:613026
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d...	ORPHA:769
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness	Shawl scrotum	OMIM:614187
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
Gm1 Gangliosidosis	Ataxia, Camptodactyly of finger, Short stature, Unsteady gait, Aplasia/Hypoplasia of the abdomina...	ORPHA:354
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Bone Marrow Failure Syndrome 5	Hypogonadism, Growth delay, Testicular atrophy, Short stature	OMIM:618165
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Hypospadias, Short stature	ORPHA:66629
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis,...	ORPHA:300298
Martin-Probst Syndrome	Bifid scrotum, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyro...	OMIM:300519
Aa Amyloidosis	Hypothyroidism, Adrenal insufficiency	ORPHA:85445
Penoscrotal Transposition	Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Shawl scrotum	ORPHA:2842
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Short stature, Postnatal growth retardation, Cryptorchid...	ORPHA:2323
Liddle Syndrome 1	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Clitoral hypertrophy, Fused labia minora	OMIM:608688
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Small scrotum, Cryptorchidism, Nonketotic hyperglycinemia, Hypoplastic labia major...	ORPHA:1300
Short Stature-Micrognathia Syndrome	Small scrotum, Ataxia, Short stature, Rhizomelia, Cryptorchidism, Gait ataxia, Skeletal muscle hy...	OMIM:617164
Neonatal Adrenoleukodystrophy	Primary adrenal insufficiency	ORPHA:44
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Akinesia, Death in childhood, Neonatal death, Increased variabilit...	OMIM:619334
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia,...	OMIM:608104
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Bicornuate uterus, Short stature, Shawl scrotum	OMIM:145420
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias	OMIM:606851
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Cryptorchidism, Growth delay, Intrau...	ORPHA:2083
Cystinosis	Short stature, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Hypophosphatemia, ...	ORPHA:213
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hyperactivity, Hypospadias, Short stature, Aggressive behavior, Cryptorchidism, Pe...	OMIM:619148
Adrenomyodystrophy	Primary adrenal insufficiency	ORPHA:977
Cystic Fibrosis	Absent vas deferens, Steatorrhea	ORPHA:586
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Apparent Mineralocorticoid Excess	Short stature, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertrop...	ORPHA:320
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Diabetes mellitus, Hypothyroidism	ORPHA:263297
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism,...	ORPHA:887
Prader-Willi Syndrome	Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response to growth h...	OMIM:176270
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypospadias, Glandular hypospadias, Shawl scrotum	ORPHA:2575
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Growth delay, Death in childhood, Intrauterine growth ret...	OMIM:610756
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperactive renin-angiotensin system, Hyp...	OMIM:214700
Warburg Micro Syndrome 3	Decreased muscle mass, Small scrotum, Postnatal growth retardation, Inability to walk, Hypoplasti...	OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Micropenis, Abnormal rep...	OMIM:300486
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Camptodactyly of finger, Short stature	ORPHA:1784
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Small scrotum, Hypogonadism, Intrauterine growth retardation	ORPHA:228390
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism	ORPHA:352447
Scarf Syndrome	Bifid scrotum, Diastasis recti, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Microp...	OMIM:312830
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T...	ORPHA:90674
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Growth delay, Adrenal insufficiency, Increased circulating renin leve...	ORPHA:427
Silver-Russell Syndrome 3	Short stature, Unilateral cryptorchidism, Elbow contracture, Postnatal growth retardation, Ambigu...	OMIM:616489
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Adrenal insuf...	ORPHA:261476
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Lesch-Nyhan Syndrome	Short stature, Choreoathetosis, Self-injurious behavior, Hyperuricemia, Dysphagia, Testicular atr...	OMIM:300322
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Hypoalbu...	ORPHA:79324
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Embryona...	OMIM:257300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
49,Xxxxy Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Azoospermia, Hypogonadism, Inf...	ORPHA:96264
Hartsfield Syndrome	Hypospadias, Cryptorchidism, Gonadotropin deficiency, Growth delay, Micropenis, Hypernatremia, Di...	OMIM:615465
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Adrenal calcification, Adrenal insufficiency, Steatorrhea, Hypercholesterol...	OMIM:278000
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cryptorchidism, Growth delay, Death in childhood, Shawl scrotum, Micropenis	OMIM:600460
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Short stature, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Intrauteri...	ORPHA:2282
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Skeletal muscle atrophy, Diabetes mellitus, Short stature, Oral-p...	OMIM:219800
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Micropenis, Neonatal death, Hypocholesterolemia	OMIM:618810
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal circulating porphyrin concentrati...	ORPHA:100924
Igg4-Related Retroperitoneal Fibrosis	Hashimoto thyroiditis, Elevated circulating C-reactive protein concentration, Anorexia, Elevated ...	ORPHA:49041
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsul...	OMIM:246200
20Q11.2 Microduplication Syndrome	Bifid scrotum, Cryptorchidism, Growth delay, Severe intrauterine growth retardation, Micropenis	ORPHA:363659
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Postnatal growth retardation, Cryptorchidism, Growth delay, Macroglossia, Shawl scro...	OMIM:301040
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Cryptorchidism, Growth delay, Camptodactyly, Breast hypoplasia, Shawl scrotum	OMIM:601353
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Hypogonadism	ORPHA:2983
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Hyperparathyroidism, Elevated circulating creatinine concentration,...	OMIM:620366
Whipple Disease	Hyponatremia, Myositis, Ataxia, Anorexia, Erectile dysfunction, Polydipsia, Hypothyroidism	ORPHA:3452
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Type ...	ORPHA:96263
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Dowling-Degos Disease	Scrotal hyperpigmentation, Penile freckling	ORPHA:79145
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Cryptorchidism, Small scrotum	ORPHA:1970
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Testicular atrophy	OMIM:613987
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy...	ORPHA:681
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency	OMIM:530000
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ...	OMIM:269200
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I...	OMIM:601198
Beta-Thalassemia Intermedia	Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot...	ORPHA:231222
Warburg Micro Syndrome 2	Small scrotum, Postnatal growth retardation, Cryptorchidism, Flexion contracture, Hypoplastic lab...	OMIM:614225
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth ret...	ORPHA:508
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Short stature, Hyperammonemia, Centra...	ORPHA:1667
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Prominent scrotal raphe	ORPHA:1555
Distal Deletion 13Q	Primary adrenal insufficiency	ORPHA:1590
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,...	OMIM:236680
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Small scrotum, Broad-based gait, Hyperactivity, Short stature, Aggressive behav...	OMIM:609625
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Ty...	OMIM:613845
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Adr...	OMIM:273395
Doors Syndrome	Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Ohdo Syndrome	Cryptorchidism, Small scrotum, Short stature	OMIM:249620
17Q23.1Q23.2 Microdeletion Syndrome	Intrauterine growth retardation, Congenital contracture, Short stature, Shawl scrotum	ORPHA:261279
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number	OMIM:615578
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Diabetes insipidus, Short stature	OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypospadias, Rhizomelia, Cryptorchidism, Hypocalcemia, Lethargy, Micropenis	OMIM:607143
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone co...	ORPHA:93325
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Cryptorchidism, Small scrotum, Intrauterine growth retardation	ORPHA:2728
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154275
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Short stature, Hypokalemia, Hyperaldosteronism, Increased circulating renin...	OMIM:612780
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Hypospadias, Decreased response to growth hormone stimulation test, Premature t...	ORPHA:268261
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Polydipsia, Hypernatremia, Short stature	OMIM:125800
Craniofrontonasal Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Shawl scrotum, Unila...	OMIM:304110
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Congenital diaphragmatic hernia, Cry...	ORPHA:2745
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154276
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Chronic pancreatitis, Cryptorchidism, Adrenal in...	OMIM:307030
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Death in infancy, Hyperparathyroidism, Short stature, Hypoammonemia, Cryptorchidism...	ORPHA:534
Lymphatic Filariasis	Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Abnormality of the scrotum	ORPHA:2035
Meier-Gorlin Syndrome 1	Death in infancy, Cryptorchidism, Hypoplastic labia minora, Flexion contracture, Hypoplastic labi...	OMIM:224690
Nephrogenic Diabetes Insipidus	Short stature, Anorexia, Nephrogenic diabetes insipidus, Growth delay, Polydipsia, Hypernatremia	ORPHA:223
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma	ORPHA:139411
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Growth delay, Hypoplastic nipples, Micropenis	OMIM:615546
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Small thenar eminence, Chordee, Longitudinal vagina...	OMIM:140000
Adrenoleukodystrophy	Hypogonadism, Primary adrenal insufficiency	OMIM:300100
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d...	ORPHA:273
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos...	OMIM:300539
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Increased c...	ORPHA:231625
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of fing...	ORPHA:2990
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Supernumerary nipple, Glandular hypospadias, Hypoplastic labia majora, Shawl scrotum	OMIM:604314
Ohdo Syndrome, X-Linked	Cryptorchidism, Micropenis, Small scrotum, Shawl scrotum	OMIM:300895
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bifid scrotum, Small scrotum, Hypoplastic labia minora, Hypoplastic labia majora, Flexion contrac...	ORPHA:324540
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating ...	ORPHA:79240
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Hyperkalemia, EMG: myopathic abnormalitie...	ORPHA:57
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Increased ...	ORPHA:2905
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Beta-Ureidopropionase Deficiency	Bifid scrotum, Elevated circulating N-carbamyl-beta-alanine concentration	OMIM:613161
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Diphallia	Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp...	ORPHA:227
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Death in infancy, Hyperactivity, Small scrotum, Hypospadias, Short stature, Septat...	OMIM:270400
Adrenomyeloneuropathy	Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr...	ORPHA:139399
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia	ORPHA:163921
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231226
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff...	ORPHA:227982
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal...	ORPHA:284339
Barber-Say Syndrome	Breast aplasia, Hypoplastic nipples, Shawl scrotum	ORPHA:1231
Myasthenia Gravis	Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis	ORPHA:589
Alg8-Cdg	Hyponatremia, Ataxia, Macroglossia, Camptodactyly, Intrauterine growth retardation	ORPHA:79325
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short stature, Decreased response to growth hormone stimulation test, Supernumerary nipple, Postn...	OMIM:213980
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Decreased cir...	ORPHA:227990
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Pre...	ORPHA:2044
20Q13.33 Microdeletion Syndrome	Facial hypotonia, Growth delay, Hypospadias, Decreased scrotal rugation	ORPHA:261311
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy...	OMIM:193300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Hypokalemia, Oligom...	OMIM:219090
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Small scrotum, Severe short stature, Ca...	ORPHA:2215
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Congenital diaphragmatic hernia, Cryptorchi...	ORPHA:2162
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency	OMIM:614863
Campomelic Dysplasia	Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Sex reversal, Dispro...	OMIM:114290
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Recurrent hand f...	ORPHA:3008
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Short stature, Postnatal growth retar...	ORPHA:138
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Trisomy 1Q	Small scrotum, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Ambiguou...	ORPHA:261344
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypokalemia	OMIM:611489
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Primary hyperaldosteronism, Left ventricular hypertrophy, Decreased circu...	OMIM:615474
Faciodigitogenital Syndrome, Autosomal Recessive	Cryptorchidism, Proportionate short stature, Camptodactyly, Shawl scrotum	OMIM:227330
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum	ORPHA:2211
Genitopatellar Syndrome	Hip contracture, Small scrotum, Short stature, Cryptorchidism, Knee flexion contracture, Arthrogr...	ORPHA:85201
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Hypohidrosis	OMIM:615510
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H...	ORPHA:231214
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Aplasia...	OMIM:229850
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Proximal muscle weakness in lower lim...	ORPHA:79273
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Vulval varicose vein, Infertility, Varicocele	ORPHA:71273
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hypokalemia, Short stature, Anorexia	OMIM:611590
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism	OMIM:617027
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency	ORPHA:139396
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, True hermaphroditism, Septate vagina, Congenital diaphragmat...	OMIM:194080
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictiv...	OMIM:619475
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Hypernatremia, Reduced circulating growth hormone concentration, Hypoalbuminemia	OMIM:615508
14Q22Q23 Microdeletion Syndrome	Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, ...	ORPHA:264200
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Hypokale...	ORPHA:411634
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Hypokalemia	OMIM:613345
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hypospadias	OMIM:123790
Gitelman Syndrome	Salt craving, Ataxia, Rhabdomyolysis, Growth delay, Hypokalemia, Increased circulating renin leve...	OMIM:263800
Barth Syndrome	Abnormal mitochondrial morphology	OMIM:302060
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Primary hypothyroidism, ...	ORPHA:96176
Flat Face-Microstomia-Ear Anomaly Syndrome	Cryptorchidism, Small scrotum, Camptodactyly of finger	ORPHA:1968
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Porphyria Variegata	Inappropriate antidiuretic hormone secretion, Abnormal circulating porphyrin concentration, Hypon...	ORPHA:79473
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Facial palsy, Anorexia, Elbow flexion contracture, Choreoa...	ORPHA:79139
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia	OMIM:602522
Cholera	Hyponatremia, Miscarriage, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy	ORPHA:173
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Short stature, Cryptorchidism, Inability to walk, Unsteady ga...	ORPHA:3063
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Short stature, Cryptorchidism, Hypoplastic labia minora, Birth length...	OMIM:613803
Bent Bone Dysplasia Syndrome 2	Arthrogryposis multiplex congenita, Micropenis, Intrauterine growth retardation, Shawl scrotum	OMIM:620076
Birk-Landau-Perez Syndrome	Facial hypotonia, Hyperkalemia, Limb ataxia, Choreoathetosis, Growth delay, Difficulty walking, I...	OMIM:617595
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, D...	ORPHA:94093
Pearson Syndrome	Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ...	ORPHA:699
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Elbow...	OMIM:181450
Zellweger Syndrome	Cryptorchidism, Primary adrenal insufficiency	ORPHA:912
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy	OMIM:602541
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Primary adrenal insufficiency, Hyperka...	ORPHA:275761
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Rubinstein-Taybi Syndrome 1	Hyperactivity, Hypospadias, Short stature, Premature thelarche, Impulsivity, Bilateral cryptorchi...	OMIM:180849
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Growth delay, Hypokalemia, Short stature, Hyperamylasemia	OMIM:604278
Gitelman Syndrome	Neoplasm of the pancreas, Salt craving, Maternal diabetes, Hypomagnesemia, Rhabdomyolysis, Hyperm...	ORPHA:358
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Death in infancy, Ataxia, Elevated circulating creatine kinase concentration, Rhabd...	OMIM:610505
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Inability to walk, Cryptorchidism, Dysphagia, Micropenis	ORPHA:495818
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Growth delay, Hypokalemia, Hypocalcemia, Dysphagia	OMIM:617913
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitochondrial compl...	ORPHA:17
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth...	OMIM:615751
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Pseudohypoaldosteronism Type 2	Growth delay, Hyperkalemia, Short stature	ORPHA:757
Legionnaires Disease	Hyponatremia, Ataxia, Anorexia	ORPHA:549
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Floating-Harbor Syndrome	Hypospadias, Short stature, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididyma...	OMIM:136140
Liver Disease, Severe Congenital	Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla...	OMIM:619991
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia	OMIM:170400
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Recombinant 8 Syndrome	Cryptorchidism, Small scrotum, Camptodactyly of finger, Hypoplastic male external genitalia	ORPHA:96167
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta...	OMIM:601678
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Aplasi...	OMIM:618280
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Torticollis, Hypospadias, Cryptorchidism, Knee flexion contracture, Clitoral hypop...	OMIM:609945
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	ORPHA:89938
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypogonadism	OMIM:614231
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Helix Syndrome	Hypokalemia, Hyperparathyroidism, Polydipsia, Hypermagnesemia	OMIM:617671
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro...	ORPHA:96191
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Hypogonadism	ORPHA:3253
Specc1L-Related Hypertelorism Syndrome	Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum	ORPHA:1519
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Malignant Hyperthermia, Susceptibility To, 1	Rhabdomyolysis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidi...	OMIM:618454
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a...	ORPHA:488632
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Shawl scrotum	ORPHA:1974
Alkuraya-Kucinskas Syndrome	Arthrogryposis multiplex congenita, Micropenis, Small scrotum, Camptodactyly	OMIM:617822
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Necrotizing Enterocolitis	Hyponatremia, Lethargy	ORPHA:391673
Bartter Syndrome, Type 3	Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating...	OMIM:607364
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Decreased response to growth hormone stimulation test	OMIM:616007
Liddle Syndrome	Hypokalemia	ORPHA:526
Carpenter Syndrome 2	Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Knee flexion contracture, Hypopla...	OMIM:614976
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug...	ORPHA:672
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Short stature, Cryptorchi...	ORPHA:857
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili...	ORPHA:167
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Hypokalemia	OMIM:602722
Acute Intermittent Porphyria	Hyponatremia, Proximal muscle weakness in upper limbs, Restlessness, Proximal muscle weakness in ...	ORPHA:79276
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia	OMIM:175500
Robinow Syndrome	Decreased serum testosterone concentration, Small scrotum, Short stature, External genital hypopl...	ORPHA:97360
Familial Dysautonomia	Hyponatremia, Growth delay, Ataxia, Gait disturbance	ORPHA:1764
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia...	ORPHA:861
Elsahy-Waters Syndrome	Bifid scrotum, Bilateral cryptorchidism, Hypospadias, Penoscrotal hypospadias	OMIM:211380
Shigellosis	Hyponatremia, Rhabdomyolysis, Abnormal blood ion concentration, Anorexia	ORPHA:810
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Growth delay, Hypokalemia, H...	ORPHA:411629
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Stillbirth	OMIM:617667
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Hypochloremia, Hyperactive ren...	OMIM:241200
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Orchitis, Aggressi...	ORPHA:99826
D-Bifunctional Protein Deficiency	Bile duct proliferation, Primary adrenal insufficiency	OMIM:261515
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Hypokalemia, Hyperthyroidism, Short stature	OMIM:170390
Andersen-Tawil Syndrome	Growth delay, Hyperaldosteronism, Short stature	ORPHA:37553
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Death in infancy, Ataxia, Hypokalemia, Death in childhood	OMIM:618426
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Orchitis, Hyperhidrosis, Increased circulating IgG level, Increased circulati...	ORPHA:99827
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Postnatal growth retardation, Hypoplastic labia minora, Splenopancrea...	OMIM:269150
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Short stature, Supernumerary nipple, Cryptorchidism, Generalized musc...	OMIM:235730
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Fanconi Renotubular Syndrome 1	Hypokalemia, Short stature, Hypophosphatemia	OMIM:134600
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Fanconi-Bickel Syndrome	Hypouricemia, Postnatal growth retardation, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Inc...	OMIM:227810
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia	ORPHA:544482
Acute Liver Failure	Hepatic periportal necrosis, Adrenal insufficiency, Hepatic necrosis, Hepatocellular necrosis	ORPHA:90062
African Trypanosomiasis	Miscarriage, Akinesia, Abnormality of the menstrual cycle, Abnormality of the endocrine system, A...	ORPHA:3385
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Biliary hyperplasia, Pancreatic cysts, Growth delay, Increased serum bile acid conc...	ORPHA:731
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Small scrotum, Hypospadias, Short stature, Cryptorchidism, Paroxysmal bursts of la...	OMIM:309580
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Short stature, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Growth delay	OMIM:608885
Pudendal Neuralgia	Dyspareunia, Impotence, Scrotal pain	ORPHA:60039
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Short stature, Growth delay, Hypoalbuminemia, Bile duct proliferation, Hypocalcemi...	OMIM:613658
Mowat-Wilson Syndrome	Bifid scrotum, Broad-based gait, Hypospadias, Ataxia, Septate vagina, Short stature, Cryptorchidi...	ORPHA:2152
Genitopatellar Syndrome	Hip contracture, Small scrotum, Enlarged labia minora, Cryptorchidism, Knee flexion contracture, ...	OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self...	OMIM:620330
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Broad-based gait, Hypospadias, Short stature, Septate vagina, Cryptorchidism, Inab...	ORPHA:261537
Skin Creases, Congenital Symmetric Circumferential, 2	Cryptorchidism, Small scrotum, Hypospadias, Short stature	OMIM:616734
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Anorexia, Hypoalbuminemia, Anoperineal fis...	OMIM:619381
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Hyperkalem...	ORPHA:423
Mercury Poisoning	Hypokalemia, Anorexia	ORPHA:330021
Fontaine Progeroid Syndrome	Death in infancy, Small scrotum, Absent nipple, Short stature, Cryptorchidism, Hypoplasia of the ...	OMIM:612289
Microphthalmia, Syndromic 2	Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Adrenal insufficiency	OMIM:300166
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate ute...	ORPHA:2052
Fumarase Deficiency	Mitochondrial swelling	OMIM:606812
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Skeletal muscle atrophy, Death in childhood	OMIM:618252
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Hyperkalemia, Addictive alcohol use, Hypocalcemia	ORPHA:31826
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363958
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Broad-based gait, Hypospadias, Short stature, Septate vagina, Cryptorchidism, Inab...	ORPHA:261552
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism,...	OMIM:607932
Scorpion Envenomation	Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Rhabdomyolysis, Hypokalemia,...	ORPHA:466677
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Orofaciodigital Syndrome Type 4	Monorchism, Primary adrenal insufficiency, Decreased testicular size, Absent testis	ORPHA:2753
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Elbow flexion contrac...	OMIM:276820
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Growth delay, Hypoka...	OMIM:619573
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperph...	ORPHA:466650
Distal Renal Tubular Acidosis	Growth delay, Hypokalemia, Polydipsia, Short stature	ORPHA:18
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Bicarbonaturia, Growth delay, Hypokalemia, Poly...	ORPHA:47159
Vascular Ehlers-Danlos Syndrome	Hypospadias, Short stature, Cryptorchidism, Cystocele, Aplasia/Hypoplasia of the abdominal wall m...	ORPHA:286
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Hypokalemia, Decreased circulating ...	ORPHA:3337
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Agitation	ORPHA:340
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Congenital diaphragmatic hernia, Me...	OMIM:601803
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900

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 Cyp11a1

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 Cyp11a1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Endogenous Glucocorticoid Signaling Regulates CD8⁺ T Cell Differentiation and Development of Dysfunction in the Tumor Microenvironment.	Immunity (September 2020)	Cyp11a1^{tm1c(EUCOMM)Wtsi} Cyp11a1^{tm1a(EUCOMM)Wtsi}	32937153
Tumors induce de novo steroid biosynthesis in T cells to evade immunity.	Nature communications (July 2020)	Cyp11a1^{tm1a(KOMP)Wtsi}	PMC7368057
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Cyp11a1^{tm1b(EUCOMM)Hmgu}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cyp11a1^{tm1b(EUCOMM)Hmgu}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cyp11a1^{tm1b(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Cyp11a1^{tm1b(EUCOMM)Hmgu}	PMC5827107

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
Cyp11a1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cyp11a1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cyp11a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cyp11a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cyp11a1 MGI:88582

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

X-ray

X-ray

DSS Histology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Cyp11a1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data