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Gene: Star MGI:102760

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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:
steroidogenic acute regulatory protein
Synonyms:
D8Ertd419e

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 Star 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 Star by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
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 Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
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 Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... OMIM:202110
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Macroorchidism, Hyperthyroidism, ... ORPHA:562
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556030
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Pr... ORPHA:769
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... ORPHA:2298
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Seconda... ORPHA:3085
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, male, Intrauterine g... ORPHA:2075
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... OMIM:202010
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardatio... ORPHA:96181
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating... ORPHA:280356
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... ORPHA:508
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Atkin-Flaitz Syndrome
Macroorchidism, Short stature, Obesity ORPHA:1193
Currarino Syndrome
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism ORPHA:1552
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Ataxia-Telangiectasia
Diabetes mellitus, Prematurely aged appearance, Telangiectasia of the skin, Abnormal testis morph... ORPHA:100
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy OMIM:268650
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity, Short stature, Polycystic ovaries ORPHA:284180
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Cu... ORPHA:3055
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature ORPHA:139474
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Short stature, Cryptorchidism, Male pseudohermaphroditism, Hypoxemia, Shawl scrotum,... ORPHA:2282
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Short stature, Obesity ORPHA:3077
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Chondrodysplasia-Difference Of Sex Development Syndrome
Intrauterine growth retardation, Male pseudohermaphroditism, Severe short stature ORPHA:1422
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Ambiguous genitalia, Short stature, Cryptorchidism, Male p... ORPHA:847
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Goiter, Pituitary hypothyroidism, Gr... ORPHA:90674
Preeclampsia
Increased body mass index, Small for gestational age, Polycystic ovaries, Type I diabetes mellitu... ORPHA:275555
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Meacham Syndrome
Death in infancy, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, St... OMIM:608978
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism, Severe short stature OMIM:600092
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Bicornuate uterus, S... ORPHA:2745
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Bruising susceptibi... ORPHA:335
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Prominent superficial veins, Hypertriglyceridemia, Maternal ... OMIM:604367
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, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma ORPHA:2869
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Fragile X Syndrome
Macroorchidism ORPHA:908
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... OMIM:246200
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism, Short stature ORPHA:140
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Epispadias, Male pseudohermaphrodit... ORPHA:2556
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Small for gestational age, Vaginal neoplasm, Hypospadias, Decrea... ORPHA:1916
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Distal Deletion 10P
Hypoplasia of penis, Short stature, Cryptorchidism, Polycystic ovaries, Intrauterine growth retar... ORPHA:1580
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary ame... OMIM:268020
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Growth delay... OMIM:610600
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En... ORPHA:201
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Hereditary Bullous Dystrophy, Macular Type
Short stature, External genital hypoplasia, Cryptorchidism, Growth delay, Acrocyanosis, Decreased... ORPHA:1867
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... OMIM:618078
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435660
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Intrauterine growth retardation OMIM:611812
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Adrenal hypopl... ORPHA:95496
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
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus OMIM:615524
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Short stature, Adrenal hypoplasia OMIM:619151
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, A... ORPHA:369929
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Failure to thrive, Hypospadias, Short stature OMIM:618874
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... OMIM:266810
Meckel Syndrome
True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male pseudohermaphro... ORPHA:564
Cushing Disease
Plethora, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchy... ORPHA:96253
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Growth delay, D... ORPHA:2326
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... OMIM:615108
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... ORPHA:99889
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus ORPHA:99927
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... OMIM:614736
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg... ORPHA:79083
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cryptorchidism, Cyanosis ORPHA:3304
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Infantile Systemic Hyalinosis
Severe short stature, Telangiectasia of the skin, Polycystic ovaries, Urticaria, Growth delay, Ab... ORPHA:2176
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Short stature, External genital hypoplasia, Cryptorchidism, Neonat... OMIM:613390
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity ORPHA:254525
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,... OMIM:236680
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Death in infancy, Hepatomegaly OMIM:613730
Pagod Syndrome
Death in infancy, Short stature, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnor... ORPHA:991
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cryptorchidism, Neonatal death, Decreased circulating T4 concentr... OMIM:608104
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amen... ORPHA:2348
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Small for gestational age, Short stature, Postnatal growth retardation... OMIM:616489
Perching Syndrome
Cyanosis OMIM:617055
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Small for gestational age, Hypospadias, Dysmenorrhea, Postnatal growth retardation... ORPHA:397590
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Short stature, Polycystic ovaries OMIM:616831
Short Syndrome
Prominent superficial veins, Small for gestational age, Insulin-resistant diabetes mellitus, Birt... OMIM:269880
Congenital Factor Vii Deficiency
Ovarian cyst, Bruising susceptibility, Menorrhagia ORPHA:327
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Jaundice, Weight loss, Urticaria, Ovarian cyst ORPHA:400
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenocortical adenoma, Decreased circulat... ORPHA:231632
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Failu... OMIM:610198
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature OMIM:601076
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Postnatal growth retardation, Sp... ORPHA:79240
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Prominent superficial veins, Hypertriglyceride... OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Splenomegaly, Irregular menstrua... ORPHA:264580
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Short stature, Polycystic ovaries ORPHA:1770
Acquired Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Progeroid facial appearance, Insulin-resistant diabetes melli... ORPHA:79086
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Neoplasm of the t... ORPHA:744
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis ORPHA:91130
Neuralgic Amyotrophy
Acrocyanosis, Short stature ORPHA:2901
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysme... ORPHA:280365
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... ORPHA:2969
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... OMIM:209900
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Short stature, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:3426
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Decre... OMIM:608594
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hydrocele testis, Hypocholesterolemia, Neonatal death, Micropenis OMIM:618810
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Lymphatic Malformation 12
Hydrocele testis, Neonatal death, Death in adolescence OMIM:620014
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Decreased serum leptin, ... OMIM:269700
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Displacement of the urethral meatus, Urogenital sinus anomaly, Femal... ORPHA:2973
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Short stature, Precocious puber... OMIM:619950
Double Outlet Left Ventricle
Cryptorchidism, Failure to thrive, Cyanosis, Cardiomegaly ORPHA:3427
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Meckel Syndrome 14
Ambiguous genitalia, Cyanosis, Aplasia of the uterus OMIM:619879
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Small for gestational age, Maternal diabetes, Cardiomegaly, Hypoxemia, Fa... ORPHA:860
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Hyperactive renin-angiotensin system OMIM:264350
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Cyanosis, Decreased fertility, Weight loss, Gonadal calcification, Hypoxemia, Testi... ORPHA:60025
Satoyoshi Syndrome
Hypoplasia of the uterus, Short stature, Amenorrhea OMIM:600705
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Intrauterine growth retardation, Failure to thrive in infancy ORPHA:284417
Tarp Syndrome
Cryptorchidism, Failure to thrive, Cyanosis, Intrauterine growth retardation ORPHA:2886
Esophageal Atresia
Cyanosis, Abnormal external genitalia, Small for gestational age, Failure to thrive in infancy, M... ORPHA:1199
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Cardiomegaly, Polycystic ovaries, Failure to thrive ORPHA:137675
Apparent Mineralocorticoid Excess
Short stature, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Intrauter... ORPHA:320
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Short stature, Hyperlipidemia, Irregular menstruation, Thyroi... ORPHA:79259
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Breath-Holding Spells
Cyanosis OMIM:607578
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Pitt-Hopkins Syndrome
Failure to thrive, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Growth del... ORPHA:2896
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Congenital Pulmonary Lymphangiectasia
Growth delay, Hepatomegaly, Cyanosis, Splenomegaly ORPHA:2414
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... OMIM:615866
Bloom Syndrome
Small for gestational age, Decreased fertility in females, Postnatal growth retardation, Cryptorc... OMIM:210900
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney OMIM:618188
C Syndrome
Death in infancy, Failure to thrive in infancy, Short stature, Cryptorchidism, Female pseudoherma... ORPHA:1308
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate ute... ORPHA:2052
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia OMIM:617914
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... ORPHA:93325
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... OMIM:601186
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Cyanosis OMIM:263000
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Short stature, Splenomegaly, Erythema, Prolonged neonatal jaund... OMIM:225750
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Hypopla... OMIM:618419
Chromosome 17Q12 Deletion Syndrome
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... OMIM:614527
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Hypospadias, Splenomegaly, Growth delay, Failure to thrive OMIM:252010
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Aplasia of the uterus, Intra... ORPHA:2879
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... ORPHA:96191
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive, Growth delay OMIM:614407
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum ORPHA:1519
Tricuspid Atresia
Cyanosis ORPHA:1209
Meckel Syndrome 12
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia OMIM:616258
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly ORPHA:391428
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Primary Pulmonary Hypoplasia
Hypoxemia, Intrauterine growth retardation, Failure to thrive, Cyanosis ORPHA:2257
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Failure to thrive, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Short stature, Angiokeratoma corporis diffusum OMIM:208400
Encephalopathy, Ethylmalonic
Acrocyanosis, Death in infancy, Failure to thrive, Petechiae OMIM:602473
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Weight loss ORPHA:1302
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism OMIM:605635
Fucosidosis
Hepatomegaly, Failure to thrive, Cardiomegaly, Vascular skin abnormality, Acrocyanosis, Hypothyro... ORPHA:349
Tetrasomy 5P
Postnatal growth retardation, Failure to thrive, Cyanosis ORPHA:3309
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Vascular skin abnormality, Splenomegaly ORPHA:93
Doors Syndrome
Ambiguous genitalia, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Splenomegal... OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Short stature, Decreased response to growth hormone stimulation test, Central diabetes ... ORPHA:293987
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Failure to thrive, Cyanosis OMIM:265120
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Weigh... ORPHA:740
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Small for gestational age, Splenomegaly, Jaundice, Decreased body weight,... ORPHA:90051
Buerger Disease
Acrocyanosis ORPHA:36258
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, High urinary gonado... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, High urinary gonado... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, High urinary gonado... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, High urinary gonado... ORPHA:99226
Dravet Syndrome
Cyanotic episode ORPHA:33069
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620126
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... OMIM:214700
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620125
Ethylmalonic Encephalopathy
Acrocyanosis, Failure to thrive, Petechiae ORPHA:51188
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Leopard Syndrome 1
Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of... OMIM:151100
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Short stature, Cardiomegaly, Hepatosplenomegaly, Prolonged ne... ORPHA:51
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Cyanosis ORPHA:91359
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Hypoxemia, Neonatal death, Failure to thrive OMIM:610921
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Wolf-Hirschhorn Syndrome
Small for gestational age, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Growth... OMIM:194190
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis OMIM:610773
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Micropenis, Aplasia of the uterus OMIM:614083
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Orchitis, Weight loss, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Hyperparathyroidism, Short stature, Cryptorchidism, Abnormal circulating calciu... ORPHA:534
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Acrocyanosis, Hashimo... ORPHA:589
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Small for gestational age, Cardiomegaly, Hypoxemia, Intrauterine growth r... ORPHA:555874
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth,... OMIM:256520
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Short stature OMIM:311200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Neop... ORPHA:231625
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... OMIM:618280
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis OMIM:261680
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... OMIM:309801
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Short stature, Hyperactive renin-angiotensin syst... OMIM:601678
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolap... OMIM:130050
East Syndrome
Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Truncus Arteriosus
Cyanosis, Cardiomegaly, Hypoplasia of the thymus, Intrauterine growth retardation, Adrenocortical... ORPHA:3384
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Cardiomegaly ORPHA:439
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis ORPHA:159
African Trypanosomiasis
Hepatomegaly, Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine syste... ORPHA:3385
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Small for gestational age, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Andersen-Tawil Syndrome
Growth delay, Hyperaldosteronism, Short stature ORPHA:37553
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Coffin-Lowry Syndrome
Cutis marmorata, Short stature, Decreased body weight, Uterine prolapse, Acrocyanosis OMIM:303600
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Cardiomegaly, Failure to thrive, Right ventricular hypertrophy ORPHA:1329
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Short stature, Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus OMIM:274000
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura ORPHA:183
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Cervical insufficiency, Uterine prolapse, Ecchym... ORPHA:287
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Parathyroid adenoma, Diabetic ketoacidosis, Type I d... ORPHA:358
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Left ventricular hypertrophy, Decreased circulating renin level OMIM:615474
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Coffin-Siris Syndrome 1
Cutis marmorata, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Aplasi... OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Anteriorly displaced ... OMIM:276820
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Increased circulating renin level, Short stature OMIM:612780
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Failure to thrive, Cyanosis OMIM:610913
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:613090
Williams Syndrome
Death in early adulthood, Hypoplasia of penis, Failure to thrive in infancy, Hypogonadotropic hyp... ORPHA:904
Peters Plus Syndrome
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ... ORPHA:709
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Failure to thrive, Cyanosis, Death in childhood OMIM:618426
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Failure to thrive, Cyanosis ORPHA:99106
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy, Adrenal calcification, Cardiomegaly, Pancreatic calcifica... ORPHA:51608
Choanal Atresia
Cyanosis ORPHA:137914
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Loeys-Dietz Syndrome
Bruising susceptibility, Uterine rupture ORPHA:60030
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... OMIM:261540
Bartter Syndrome Type 4
Small for gestational age, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ci... ORPHA:89938
Congenital Tracheomalacia
Failure to thrive, Cyanosis, Cardiomegaly ORPHA:95430
Okamoto Syndrome
Splenomegaly, Severe postnatal growth retardation, Bifid uterus ORPHA:2729
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Cyanosis, Cardiomegaly, Failure to thrive, Enlarged kidney OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Enlarged kidney, Cardiomegaly OMIM:261740
Criss-Cross Heart
Cyanosis ORPHA:1461
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Short stature, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:241200
Vascular Ehlers-Danlos Syndrome
Hypospadias, Prematurely aged appearance, Telangiectasia of the skin, Short stature, Cryptorchidi... ORPHA:286
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Acrocyanosis OMIM:223900
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Cystocele, Decreased fertility, Abnormality of the menstrual cycle ORPHA:285
Absence Of The Pulmonary Artery
Growth delay, Cyanosis, Cardiomegaly, Hypocapnia ORPHA:980
Familial Dysautonomia
Growth delay, Acrocyanosis ORPHA:1764
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hyperaldosteronism OMIM:602522
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic limb shortenin... OMIM:601803
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis ORPHA:99050
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypocholesterolemia ORPHA:90363
Primary Hyperoxaluria
Acrocyanosis, Failure to thrive, Cutis marmorata ORPHA:416
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism ORPHA:73224
Dermatomyositis
Telangiectasia of the skin, Erythema, Weight loss, Acrocyanosis, Cutaneous photosensitivity ORPHA:221
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... OMIM:610655
Eisenmenger Syndrome
Hypoxemia, Hepatomegaly, Cyanosis ORPHA:97214
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis ORPHA:216694
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Goodpasture Syndrome
Cyanosis, Weight loss OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Cyanosis, Cardiomegaly ORPHA:99125

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 Star

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 Star.

There are 13 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Stard7tm1b(EUCOMM)Wtsi Stard8tm1a(EUCOMM)Wtsi Stard8tm1b(EUCOMM)Wtsi PMC7263671
The type 2 diabetes gene product STARD10 is a phosphoinositide-binding protein that controls insulin secretory granule biogenesis. Molecular metabolism (May 2020) Stard10tm1c(KOMP)Wtsi PMC7322359
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Stard8tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Stard13tm1a(KOMP)Wtsi Stard5tm1a(KOMP)Wtsi Stard6tm1a(KOMP)Wtsi Stard8tm1a(EUCOMM)Wtsi Stard8tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Stard13tm1a(KOMP)Wtsi Stard5tm1a(KOMP)Wtsi Stard6tm1a(KOMP)Wtsi Stard8tm1a(EUCOMM)Wtsi Stard8tm1b(EUCOMM)Wtsi PMC6459510
In vivo evidence supporting a metastasis suppressor role for Stard13 (Dlc2) in ErbB2 (Neu) oncogene induced mouse mammary tumors. Genes, chromosomes & cancer (December 2017) Stard13tm1c(KOMP)Wtsi Stard13tm1a(KOMP)Wtsi 29218825
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Stard8tm1a(EUCOMM)Wtsi Stard8tm1b(EUCOMM)Wtsi PMC5827107
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice. American journal of human genetics (January 2017) Stard10tm1c(KOMP)Wtsi Stard10tm1a(KOMP)Wtsi PMC5294761
A gene expression resource generated by genome-wide lacZ profiling in the mouse. Disease models & mechanisms (August 2015) Stard13tm1a(KOMP)Wtsi Stard8tm1a(EUCOMM)Wtsi PMC4631787
Haploinsufficiency for Stard7 is associated with enhanced allergic responses in lung and skin. Journal of immunology (Baltimore, Md. : 1950) (May 2015) Stard7tm1a(EUCOMM)Wtsi PMC4458395
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen. Disease models & mechanisms (March 2014) Stard5tm1a(KOMP)Wtsi Stard13tm1a(KOMP)Wtsi PMC4007403
Genomic analysis of a novel spontaneous albino C57BL/6N mouse strain. Genesis (New York, N.Y. : 2000) (May 2013) Stard7tm1a(EUCOMM)Wtsi PMC3799019
DLC2 modulates angiogenic responses in vascular endothelial cells by regulating cell attachment and migration. Oncogene (March 2010) Stard13tm1a(KOMP)Wtsi PMC2874629

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Startm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Startm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Startm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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