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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Adrenogenital syndrome, Hypospadias OMIM:201710
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... 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
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Abnormal female external genitalia morph... ORPHA:90790
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... OMIM:264300
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Intellectual Developmental Disorder, X-Linked 2
Short stature, Macroorchidism OMIM:300428
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphr... ORPHA:91
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Denys-Drash Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis ORPHA:220
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, ... ORPHA:2075
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... ORPHA:96181
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201710
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... OMIM:201910
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Oligomenorrhea, Hypert... ORPHA:280356
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Failure to thrive, Overgrowth of extern... ORPHA:508
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Currarino Syndrome
Male pseudohermaphroditism, Hypospadias, Hypoplasia of penis, Bifid scrotum ORPHA:1552
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... ORPHA:100
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... ORPHA:1643
Atkin-Flaitz Syndrome
Short stature, Macroorchidism, Obesity ORPHA:1193
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Bruising susceptibility, Primary hypercortisolism, Dorsocer... OMIM:615830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Intrauterine growth retardation, Cryptorchidism, Male pseudohermaphroditism, Short stature, Shawl... ORPHA:2282
Rudiger Syndrome
Micropenis, Death in infancy, Bicornuate uterus, Ovarian cyst OMIM:268650
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Cryptorchidism, Death in infancy, Male pseudohermaphroditism, ... ORPHA:847
17Q11.2 Microduplication Syndrome
Short stature, Macroorchidism ORPHA:139474
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Bruising susceptibility, Decreased circulating ACTH concent... OMIM:219080
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Intrauterine growth retardation, Male pseudohermaphroditism ORPHA:1422
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Xp22.13P22.2 Duplication Syndrome
Short stature, Macroorchidism, Truncal obesity, Polycystic ovaries ORPHA:284180
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Short stature, Macroorchidism, Obesity ORPHA:3077
Meacham Syndrome
Septate vagina, Death in childhood, Death in infancy, Neonatal death, Male pseudohermaphroditism,... OMIM:608978
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Male pseudohermaphroditism OMIM:600092
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Short stature,... ORPHA:2745
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Failure to thrive, In... ORPHA:90674
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Congenital Fibrinogen Deficiency
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... ORPHA:335
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n... ORPHA:189427
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Small for gestational age, Cryptorchidism ORPHA:319332
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:254516
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceri... OMIM:604367
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Erythema, Clitoral hypertrophy, Severe short stature, Growth delay, Fa... ORPHA:2556
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge... ORPHA:528
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... ORPHA:90794
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Pancreatic adenocarcinoma, Cervix cancer ORPHA:2869
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Postnatal growth retardation, Hyperinsuline... OMIM:246200
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Distal Deletion 10P
Intrauterine growth retardation, Cryptorchidism, Polycystic ovaries, Short stature, Hypoplasia of... ORPHA:1580
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Campomelic Dysplasia
Short stature, Male pseudohermaphroditism, Ambiguous genitalia ORPHA:140
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Intrauterine... OMIM:614732
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Short statu... ORPHA:1867
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... ORPHA:95496
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... OMIM:268020
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Prenatal death, Neonatal death OMIM:618393
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Macroorchidism OMIM:300055
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Failure to thrive, Abnormality of the ut... ORPHA:201
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Neonatal death OMIM:615524
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma... OMIM:613080
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... ORPHA:453533
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Left ventricular hypertrophy, Adrenal hyperplasia, Glucocortocoid-ins... ORPHA:251274
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Fragile X Syndrome
Macroorchidism ORPHA:908
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Amed Syndrome, Digenic
Short stature, Hypoplasia of the uterus, Adrenal hypoplasia, Failure to thrive OMIM:619151
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Preeclampsia
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries, Increased body mas... ORPHA:275555
Meckel Syndrome
Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, Ambiguous genitalia, Pancreatic... ORPHA:564
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:96184
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Kallmann Syndrome-Heart Disease Syndrome
Growth delay, Bilateral cryptorchidism, Decreased testicular size, Cyanosis, Hypogonadotropic hyp... ORPHA:2326
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... OMIM:616113
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydr... OMIM:615108
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Cryptorchidism ORPHA:3304
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyr... OMIM:615109
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Death in infancy, Neonatal death, Short stature, Mis... OMIM:613390
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Cushing Disease
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Adren... ORPHA:96253
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556037
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Macroorchidism, Hypospadias, Failure to thrive OMIM:618874
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Death in infancy, Neonatal death OMIM:613730
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Decreased circulating aldosterone level, Elevate... ORPHA:556030
Cushing Syndrome Due To Ectopic Acth Secretion
Poor wound healing, Increased circulating cortisol level, Increased urinary cortisol level, Adren... ORPHA:99889
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,... ORPHA:2232
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:254531
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Short stature ORPHA:3063
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico... OMIM:610600
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Decreased body wei... OMIM:272440
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Sex reversal OMIM:613743
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Prominent veins on trunk, Hypertriglyceridemia, Splenomegaly... ORPHA:79083
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... OMIM:300845
Infantile Systemic Hyalinosis
Severe short stature, Aplasia/Hypoplasia of the thymus, Failure to thrive, Polycystic ovaries, Ab... ORPHA:2176
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Decreased circulating T4 concentration, Intrauterine growth retardation, Crypt... OMIM:608104
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Obesity, Intrauterine growth retardation ORPHA:254525
Silver-Russell Syndrome 3
Postnatal growth retardation, Decreased body weight, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:616489
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypoth... OMIM:158350
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Death in infa... OMIM:300219
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Macroorchidism ORPHA:324410
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Postnatal growth retardation, Intrauterine growth retardation, Abnor... ORPHA:397590
Seckel Syndrome 7
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... OMIM:614851
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Postnatal growth retardation, Decreased testicular size, Intrauterine growth r... OMIM:610198
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, H... ORPHA:478
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Intrauterine growth retardation, Adrenal gland dysgenesis, Stillbirth... OMIM:236680
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuf... ORPHA:2905
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Factor Vii Deficiency
Menorrhagia, Bruising susceptibility, Ovarian cyst ORPHA:327
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Dysmenorrhea, Polycystic ovaries, Hypertriglyceridemia, Hepatomegaly, Diabetes mell... ORPHA:2348
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Short stature, Polycystic ovaries OMIM:616831
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst, Weight loss, Hepatomegaly, Jaundice, Urticaria ORPHA:400
Short Syndrome
Insulin-resistant diabetes mellitus, Premature skin wrinkling, Intrauterine growth retardation, R... OMIM:269880
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Perching Syndrome
Cyanosis OMIM:617055
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Familial Adenomatous Polyposis 4
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Acquired Generalized Lipodystrophy
Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ov... ORPHA:79086
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Postnatal growth retardation, Splenomegaly, Dysmenorrhea, Polycystic ovar... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Growth delay, Failure to thrive, Splenomegaly, Dysmenorrhea, Polycystic o... ORPHA:264580
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Adrenal gland agenesis, Hypoplasia of the fallopian tube OMIM:273395
Lymphatic Malformation 12
Death in adolescence, Hydrocele testis, Neonatal death OMIM:620014
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Postnatal growth... ORPHA:96179
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Bresek Syndrome
Decreased testicular size, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Growt... ORPHA:85284
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... OMIM:615925
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Neonatal death, Hepatomegaly, Micropenis, Hydrocele testis OMIM:618810
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Progeroid facial appearance, Premature graying of hair, Splenomegaly... ORPHA:280365
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi... OMIM:241410
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... ORPHA:2969
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive ORPHA:91130
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Abdominal obesity, Le... OMIM:209900
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Vascular skin abnormality, Neoplasm of the th... ORPHA:744
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Failure to thrive, Cyanosis, Hypoparathyroidism, Short stature ORPHA:3426
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Double Outlet Left Ventricle
Cardiomegaly, Cyanosis, Cryptorchidism, Failure to thrive ORPHA:3427
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Reduced subcutaneous ad... OMIM:608594
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... ORPHA:2237
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... OMIM:618160
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight, Decreased s... OMIM:608747
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... OMIM:269700
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Female pseudohermaphroditism, Urogenital sinus anomaly, Displacement... ORPHA:2973
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Gonadal calcification, Decreased fertility, Cyanosis, Weight los... ORPHA:60025
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Disproportionate short-limb short stature, Elevat... OMIM:609441
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Cyanosis OMIM:619879
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Tarp Syndrome
Cyanosis, Intrauterine growth retardation, Cryptorchidism, Failure to thrive ORPHA:2886
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor OMIM:175200
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Sanjad-Sakati Syndrome
Postnatal growth retardation, Cryptorchidism, Congenital hypoparathyroidism, Severe intrauterine ... ORPHA:2323
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Telangiectasia of the skin, Enlarged kidney ORPHA:276280
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Right ventricular hypertrophy, Cyanosis, Cardiomegaly, Maternal diabetes, Hepa... ORPHA:860
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Growth delay, Postnatal growth retardati... OMIM:210900
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Esophageal Atresia
Failure to thrive in infancy, Cyanosis, Maternal diabetes, Growth delay, Small for gestational ag... ORPHA:1199
Pitt-Hopkins Syndrome
Growth delay, Failure to thrive, Supernumerary nipple, Postnatal growth retardation, Cryptorchidi... ORPHA:2896
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Bilateral cryptorchidism, Short stature, Coronal hypospadias OMIM:619859
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Polycystic ovaries, Cardiomegaly, Hepatomegaly ORPHA:137675
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Delayed p... OMIM:615866
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Postnatal growth retardation ORPHA:2728
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Growth delay, Failure to thrive, Bruising susceptibility, Xa... ORPHA:79259
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldo... ORPHA:231632
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Growth delay, Splenomegaly ORPHA:2414
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Reduced subcutaneous adipose tissue, Excessive wrinkled sk... OMIM:619950
Breath-Holding Spells
Cyanosis OMIM:607578
Craniopharyngioma
Growth delay, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesi... ORPHA:54595
C Syndrome
Failure to thrive in infancy, Female pseudohermaphroditism, Cryptorchidism, Death in infancy, Sho... ORPHA:1308
Microphthalmia, Syndromic 9
Severe short stature, Intrauterine growth retardation, Cryptorchidism, Neonatal death, Short stat... OMIM:601186
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Intrauterine growth retardation, Postnatal growth retardation, Abnorma... ORPHA:93325
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus, Short stature OMIM:617914
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele... OMIM:618419
Phocomelia, Schinzel Type
Disproportionate short stature, Intrauterine growth retardation, Cryptorchidism, Aplasia of the u... ORPHA:2879
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Short stature, Unicor... OMIM:614527
Specc1L-Related Hypertelorism Syndrome
Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum ORPHA:1519
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Failure to thrive, Splenomegaly, Cyanosis, Death in infancy, Hepatomegaly, Hypospadias OMIM:252010
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
Congenital Heart Block
Intrauterine growth retardation, Cyanosis ORPHA:60041
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Postnatal growth retardation, L... ORPHA:96191
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Death in... ORPHA:2052
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Meckel Syndrome 12
Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus OMIM:616258
Aicardi-Goutieres Syndrome 1
Erythema, Splenomegaly, Petechiae, Prolonged neonatal jaundice, Hypothyroidism, Short stature, He... OMIM:225750
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive, Growth delay OMIM:614407
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Failure to thrive, Death in infancy OMIM:602473
Tricuspid Atresia
Cyanosis ORPHA:1209
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Primary Pulmonary Hypoplasia
Cyanosis, Intrauterine growth retardation, Hypoxemia, Failure to thrive ORPHA:2257
Hsd10 Disease, Infantile Type
Cardiomegaly, Cyanosis ORPHA:391428
Apparent Mineralocorticoid Excess
Failure to thrive, Intrauterine growth retardation, Abnormality of circulating cortisol level, De... ORPHA:320
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure to thrive ORPHA:444013
Fucosidosis
Failure to thrive, Vascular skin abnormality, Cardiomegaly, Hypothyroidism, Hepatomegaly, Acrocya... ORPHA:349
Cryptogenic Organizing Pneumonia
Hypoxemia, Weight loss, Cyanosis ORPHA:1302
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Obesity, Splenomegaly, Ovarian cyst, Parathyroid agenesis... OMIM:188400
Tetrasomy 5P
Cyanosis, Failure to thrive, Postnatal growth retardation ORPHA:3309
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Failure to thrive OMIM:264350
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Doors Syndrome
Congenital hypothyroidism, Ambiguous genitalia, Adrenal hyperplasia ORPHA:79500
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Short stature, Angiokeratoma corporis diffusum OMIM:208400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... ORPHA:99413
Turner Syndrome
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... ORPHA:881
Mosaic Monosomy X
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... ORPHA:99228
Monosomy X
Female infertility, Growth delay, Abnormality of the ovary, Failure to thrive in infancy, Hyperin... ORPHA:99226
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin sys... OMIM:177735
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Delayed menarche, Cyanosis, Severe fai... ORPHA:740
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Failure to thrive, Death in infancy, Neonatal death OMIM:265120
Dravet Syndrome
Cyanotic episode ORPHA:33069
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Splenomegaly, Vascular skin abnormality ORPHA:93
Sepsis In Premature Infants
Splenomegaly, Petechiae, Decreased body weight, Cyanosis, Hepatomegaly, Jaundice, Purpura, Small ... ORPHA:90051
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Failure to thrive ORPHA:51188
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cutis marmorata, Cardiomegaly, Prolonged neonatal jaundice, Hypothyroidism, S... ORPHA:51
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Failure to thrive ORPHA:91359
Wolf-Hirschhorn Syndrome
Precocious puberty, Growth delay, Failure to thrive, Intrauterine growth retardation, Cryptorchid... OMIM:194190
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Intrauterine growth retardation, Cryptorc... OMIM:256520
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Intrauterine growth retardation, Growth delay OMIM:614083
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Cyanosis, Death in infancy, Neonatal death, Hypoxemia OMIM:610921
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Orchitis, Weight loss, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Orofaciodigital Syndrome I
Short stature, Pancreatic cysts, Ovarian cyst OMIM:311200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Intrauterine growth retardation, Right ventricular hypertrophy, Cyanos... ORPHA:555874
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Norrie Disease
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... ORPHA:649
Myasthenia Gravis
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus morphology... ORPHA:589
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Bruising susceptibility, Cystocele, Cryptorchidism, Uterine prolapse, Ecchymosis... OMIM:130050
Eosinophilic Fasciitis
Weight loss, Acrocyanosis ORPHA:3165
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Growth delay, Purpura, Hepatomegaly, Acrocyanosis, Urticaria ORPHA:343
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Cyanosis ORPHA:488627
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Short stature, Micropenis, Hypoplasia of the uterus, Hy... OMIM:309801
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis OMIM:261680
Necrotizing Enterocolitis
Cyanosis, Small for gestational age ORPHA:391673
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Hypoxemia, Cyanosis ORPHA:439
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Truncus Arteriosus
Intrauterine growth retardation, Cyanosis, Cardiomegaly, Hypoplasia of the thymus, Adrenocortical... ORPHA:3384
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... OMIM:107480
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Weight loss, Cyanosis ORPHA:747
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis ORPHA:159
Coffin-Lowry Syndrome
Cutis marmorata, Uterine prolapse, Decreased body weight, Short stature, Acrocyanosis OMIM:303600
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Complete Atrioventricular Septal Defect
Failure to thrive, Cyanosis, Cardiomegaly, Hepatomegaly, Right ventricular hypertrophy ORPHA:1329
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Death in infancy, Aplasia of the uterus, Short stature, Pancreatic cysts OMIM:274000
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Purpura, Weight loss, Acrocyanosis, Urticaria ORPHA:183
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Prematurely aged appearance, Uterine prolapse, Ecchy... ORPHA:287
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Postnatal growth retardation, Cutis marmorata, Intrauterine growth retardat... OMIM:135900
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Disproportionate short stature, Cryptorchidism, Aplasia of the uterus, Anteriorly ... OMIM:276820
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Failure to thrive OMIM:610913
Peters Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Congenital h... ORPHA:709
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Williams Syndrome
Precocious puberty, Cholelithiasis, Failure to thrive in infancy, Obesity, Death in early adultho... ORPHA:904
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left ventricular hypertrophy, Failure to thrive ORPHA:99106
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Failure to thrive, Hyperaldosteronism, Short stature, Hyperactive renin-angi... OMIM:601678
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Failure to thrive, Death in childhood OMIM:618426
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Adrenal calcification, Cyanosis, Pancreatic calcification, Cardiome... ORPHA:51608
Loeys-Dietz Syndrome
Bruising susceptibility, Uterine rupture ORPHA:60030
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Choanal Atresia
Cyanosis ORPHA:137914
African Trypanosomiasis
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... ORPHA:3385
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Peters-Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine... OMIM:261540
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Cardiogenic Shock
Hepatomegaly, Cyanosis, Hypoxemia ORPHA:97292
Okamoto Syndrome
Bifid uterus, Severe postnatal growth retardation, Splenomegaly ORPHA:2729
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Congenital Tracheomalacia
Cardiomegaly, Cyanosis, Failure to thrive ORPHA:95430
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Cyanosis, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cyanosis, Enlarged kidney OMIM:261740
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Bruising susceptibility, Cystocele, Cryptorchidism, Uterine prolapse, Excessive ... ORPHA:286
Criss-Cross Heart
Cyanosis ORPHA:1461
Pallister-Killian Syndrome
Small scrotum, Rhizomelia, Growth delay, Supernumerary nipple, Obesity, Mesomelic/rhizomelic limb... OMIM:601803
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Growth delay OMIM:223900
Familial Dysautonomia
Acrocyanosis, Growth delay ORPHA:1764
Absence Of The Pulmonary Artery
Cardiomegaly, Growth delay, Cyanosis, Hypocapnia ORPHA:980
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Hypermobile Ehlers-Danlos Syndrome
Menometrorrhagia, Bruising susceptibility, Cystocele, Decreased fertility, Acrocyanosis ORPHA:285
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Failure to thrive ORPHA:99050
Dermatomyositis
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Weight loss, Facial erythema, Telangiec... ORPHA:221
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis, Failure to thrive ORPHA:416
Unilateral Polymicrogyria
Cyanosis ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Eisenmenger Syndrome
Hepatomegaly, Hypoxemia, Cyanosis ORPHA:97214
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Failure to thrive ORPHA:216694
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Goodpasture Syndrome
Weight loss, Cyanosis OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Cardiomegaly, Cyanosis 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)