Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Testes, Rudimentary |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... |
OMIM:620103 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Abnormal circ... |
ORPHA:280356 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Elevated circulating luteinizi... |
OMIM:229070 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... |
OMIM:616185 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... |
OMIM:273250 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Type II diabetes mellitus, Infertility, Azoospermia, Insulin resistance, He... |
OMIM:615703 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... |
ORPHA:562 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... |
OMIM:612885 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased proportion of CD4-positive ... |
ORPHA:66628 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ... |
OMIM:604367 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased proportion of CD4-positive ... |
ORPHA:179494 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hyp... |
OMIM:614840 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... |
ORPHA:163976 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Inguinal hernia, Elevated circulating luteinizing hormone level, Blind vagina,... |
OMIM:300068 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Hyponatremia, Increased circulating ACTH level, Decreased circulating cortiso... |
OMIM:614736 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... |
ORPHA:79084 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Infertility, Azoospermia, Increased circulating ferritin concent... |
OMIM:602390 |
Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Hyperhidrosis, We... |
ORPHA:1501 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... |
OMIM:617006 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Kel... |
ORPHA:3085 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Impotence, Glucose intolerance, Azoospermia, Hepatocellular carc... |
OMIM:235200 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Inguinal he... |
ORPHA:96181 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, L... |
ORPHA:444463 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hypercholesterolemia, Hyperinsulinemia, Increased C-peptide level,... |
ORPHA:528 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Hyponatremia, Adrenal insufficiency,... |
OMIM:300200 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... |
ORPHA:791 |
X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... |
ORPHA:163971 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Small for gestational age, Decreased serum testosterone ... |
OMIM:300869 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... |
OMIM:615234 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis |
OMIM:614897 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the left hemidiaphragm, Increased serum... |
OMIM:618901 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Elevated circulating follicle stimulating hormone level, Hypothyroi... |
OMIM:176400 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,... |
ORPHA:556037 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
Myotonic Dystrophy 2 |
|
Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine kin... |
OMIM:602668 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Breast aplasia, Eunuchoid habitus, Type I diabetes mellitus, Elevated ... |
ORPHA:3044 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,... |
ORPHA:556030 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis |
OMIM:216950 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Perlman Syndrome |
|
Hyperinsulinemia, Hypoplasia of penis, Inguinal hernia, Hepatomegaly, Cryptorchidism, Abnormal pa... |
ORPHA:2849 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Large f... |
ORPHA:276580 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Hyperglycemia, Infertili... |
ORPHA:465508 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Autoimmune antibody positivity |
ORPHA:60026 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Decreased body weight, Microphallus, Decreased test... |
OMIM:617053 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Platelet antibody positive |
OMIM:188030 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Graves disease, Hypoglycemia, Hypoparathyroidism, Eosinophi... |
ORPHA:199299 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Anti-thyroid peroxidase antibody positivity, Inflammatory abnormality of... |
ORPHA:277 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Eunuchoid habitus, Delaye... |
ORPHA:432 |
Masp2 Deficiency |
|
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis |
OMIM:613791 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Antinuclear antibody positivity |
OMIM:613495 |
Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... |
ORPHA:457083 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... |
OMIM:201810 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... |
ORPHA:169079 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anemia, Hypogonadism, Reticulocytopenia, Adrenal insufficiency, Dysplastic erythr... |
ORPHA:300298 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Increased intraabdominal fat, Hepatomegal... |
OMIM:151660 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Primary... |
OMIM:616033 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Kennedy Disease |
|
Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... |
ORPHA:481 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Abnormality of the liver, Jaundice, Puberty and gonadal ... |
ORPHA:79320 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
Chilblain Lupus |
|
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... |
ORPHA:90280 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity, Allergic rhinitis |
OMIM:131430 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Bre... |
OMIM:615363 |
Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... |
ORPHA:91 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Hepatic fibrosis, Adipose tissue loss, Long penis, Severe f... |
OMIM:246200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism |
OMIM:614858 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... |
ORPHA:261519 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hypoplasia of pen... |
ORPHA:10 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Small for gestational age, Diabetic ketoacidosis, Long peni... |
OMIM:262190 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity... |
OMIM:614470 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Hypothalamic hamartoma, Premature thelarche, Increased circulating ... |
ORPHA:759 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
Addison Disease |
|
Decreased circulating aldosterone level, Decreased female libido, Decreased circulating cortisol ... |
ORPHA:85138 |
Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycem... |
ORPHA:97279 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissu... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose tissue, Labial hypertrophy, E... |
OMIM:269700 |
Sheehan Syndrome |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:91355 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Failure... |
OMIM:610600 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level, Sex reversal |
OMIM:613080 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Cirrhosis, Insulin resistance, Hepati... |
ORPHA:79086 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... |
ORPHA:300373 |
Alstrom Syndrome |
|
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... |
OMIM:203800 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... |
ORPHA:280679 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Macroorchidism, Increased circulating prolactin concentration, Increased pituit... |
ORPHA:90674 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-n... |
ORPHA:231154 |
48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Defective T cell proli... |
OMIM:618534 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Failure to thrive, Hepatomegaly, Decreased serum testost... |
OMIM:201100 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... |
OMIM:619375 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... |
OMIM:152700 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cryptorchidism |
ORPHA:3055 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
Systemic Lupus Erythematosus 17 |
|
Malar rash, Leukopenia, Myelitis, Anti-aquaporin 4 antibody positivity, Lymphopenia, Autoimmune t... |
OMIM:301080 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Azoospermia, Decreased response to growth hormone stimulation test, Hy... |
OMIM:300845 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Elevated hepatic transamin... |
ORPHA:263455 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Decreased serum estradiol, T lymphocytopenia, Multiple joint ... |
ORPHA:2959 |
Megalencephaly |
|
Macroorchidism, Long penis, Truncal obesity |
ORPHA:2477 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar... |
ORPHA:2232 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:35878 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Hyperkalemia, Increased circu... |
ORPHA:171876 |
Vipoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... |
ORPHA:97282 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... |
OMIM:615559 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... |
ORPHA:158061 |
H Syndrome |
|
Hypertriglyceridemia, Hernia, Hypogonadism, Decreased testicular size, Azoospermia, Camptodactyly... |
ORPHA:168569 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia |
ORPHA:228312 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased circulating cortisol level, Abnormal subcutaneous fat tissue di... |
ORPHA:189439 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem... |
OMIM:617780 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Elevated proportion of CD4-negative, CD8-negative... |
OMIM:603909 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop... |
OMIM:618806 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Decreased female libido, Nor... |
ORPHA:95409 |
Somatostatinoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97283 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Wrist flexion contracture, Flexion contracture, Male hypogonadism, Obesity |
OMIM:300055 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Adrenocorti... |
ORPHA:199296 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Decreased b... |
ORPHA:1667 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Juvenile Arthritis |
|
Skin rash, Antinuclear antibody positivity, Thrombocytosis, Leukocytosis |
OMIM:618795 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti... |
ORPHA:90283 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating lu... |
OMIM:618419 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Macroorchidism, Abnormal dental enamel morphology |
ORPHA:139474 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... |
ORPHA:2457 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad... |
ORPHA:189427 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... |
ORPHA:572333 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... |
OMIM:240500 |
Renal Hypoplasia, Bilateral |
|
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Cryptorchidism, H... |
ORPHA:97362 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... |
OMIM:616005 |
48,Xxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... |
ORPHA:96263 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cln3 Disease |
|
Increased circulating androgen concentration, Vacuolated lymphocytes |
ORPHA:228346 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Failure to thrive, Hyponatremia, Hyper... |
OMIM:264350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... |
ORPHA:331206 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Refractory anemia, Mono... |
OMIM:616871 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoi... |
ORPHA:99889 |
Classic Galactosemia |
|
Decreased fertility in females, Hepatic failure, Secondary amenorrhea, Premature ovarian insuffic... |
ORPHA:79239 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... |
ORPHA:97278 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, T lymphocytopenia, Decreased circula... |
ORPHA:572 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Dorsocervical fat pad, Ol... |
ORPHA:1359 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thrive, Diabetes mellitus, Increased ... |
OMIM:613845 |
Isolated Agammaglobulinemia |
|
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Abnormality of n... |
ORPHA:229717 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating renin level, Fai... |
OMIM:177735 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... |
OMIM:618048 |
Inclusion Body Myositis |
|
Autoimmunity |
ORPHA:611 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity |
OMIM:300602 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum estradiol, Camptodactyly of finger, Increased circulating prolactin concentration... |
ORPHA:3455 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Umbilical h... |
ORPHA:284180 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hyperkalemia, Hypoglycemia, Hyponatremia, Adrenal hypoplasia |
OMIM:240200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Anemia, Retrograde ejaculation, Insulin resistance, Increased blood urea nitrog... |
ORPHA:230 |
Glucagonoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97280 |
Whipple Disease |
|
Hypothyroidism, Anemia, Cachexia, Insulin resistance, Erectile dysfunction, Hepatomegaly, Hyponat... |
ORPHA:3452 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Camptodactyly of finger, Decreased... |
OMIM:602782 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... |
ORPHA:99886 |
Webb-Dattani Syndrome |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypern... |
OMIM:615926 |
46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... |
OMIM:616425 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Skin rash, Lupus anticoagulant, Lymphopenia, Colitis, Thrombocytopenia, Antinuc... |
OMIM:616744 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
49,Xxxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... |
ORPHA:96264 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
OMIM:300431 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Reduced subc... |
ORPHA:508 |
Pituitary Gigantism |
|
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Increase... |
ORPHA:99725 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Increased serum testosterone level, Small for gest... |
OMIM:264090 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Primary amenorrhea, Hyperinsulinemia, Precocious puberty, Decreased... |
OMIM:176270 |
Grfoma |
|
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... |
ORPHA:97261 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Decreased serum leptin, Polycystic ovaries, Decreased adip... |
ORPHA:79085 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hemolytic anemia, Hypogonadism, Azoospermia, Hypoplasia of penis, Crypt... |
ORPHA:251066 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... |
OMIM:241080 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated hepatic transaminase, Elevate... |
OMIM:613327 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macroorchidism, postpubertal |
OMIM:300624 |
Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Prostate cancer, Weight loss, Vaginal neoplasm, Neoplasm of the liver, Abnormality of the periton... |
ORPHA:2126 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Panniculitis, C... |
ORPHA:3261 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Failure... |
OMIM:203400 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... |
OMIM:613011 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Hypokalemia, Decreased thyr... |
OMIM:613239 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Loss ... |
OMIM:608612 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Increased facial adipose tissue, Hyp... |
OMIM:248370 |
Alg12-Cdg |
|
Patent ductus arteriosus, Hyponatremia, B lymphocytopenia, Camptodactyly, Elevated hepatic transa... |
ORPHA:79324 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Male infertility, Hypocalcemic seizures, Congenital hypoparathyr... |
ORPHA:2239 |
Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... |
OMIM:210900 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammatory abnormality of the skin |
ORPHA:90159 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... |
OMIM:618987 |
Aquagenic Palmoplantar Keratoderma |
|
Systemic lupus erythematosus, Atopic dermatitis |
ORPHA:498359 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis, Glomerulonephritis, Anti-dsDNA antibody... |
ORPHA:567544 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Cirrhosis, Hepatic failure, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure... |
OMIM:602579 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Macroorchidism |
ORPHA:776 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Pgm3-Cdg |
|
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Eosinop... |
ORPHA:443811 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatosplenomegaly, Bone-... |
ORPHA:275761 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Micropenis |
OMIM:614880 |
Hepatocellular Carcinoma |
|
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobi... |
ORPHA:88673 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... |
OMIM:603553 |
Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... |
ORPHA:913 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Bloom Syndrome |
|
Acute myeloid leukemia, Small for gestational age, Premature ovarian insufficiency, Abnormal prop... |
ORPHA:125 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating prolactin concentration, Parathyroid adenoma, Adenoma sebaceum, Increased c... |
OMIM:131100 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Anti-glutamic acid decarboxylase antibody positivity, Anti-islet antigen-2 antibody positivity, P... |
OMIM:620044 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss, Diabetes insipidus |
ORPHA:178029 |
Immunodeficiency 27A |
|
Anemia, Rheumatoid factor positive, Hepatosplenomegaly, Histiocytosis, Pneumonia, Thrombocytosis,... |
OMIM:209950 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Brachydactylous Dwarfism, Mseleni Type |
|
Hip osteoarthritis, Autoimmunity, Osteoarthritis of the elbow, Increased inflammatory response, K... |
ORPHA:2619 |
Nelson Syndrome |
|
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... |
ORPHA:199244 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Pericarditis, De... |
OMIM:615758 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Pericarditis, Systemic lupus erythematosus, Antinuclear antibody positivity |
OMIM:609939 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter |
ORPHA:83601 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... |
ORPHA:2688 |
Shigellosis |
|
Hepatic failure, Microangiopathic hemolytic anemia, Peritonitis, Abscess, Abnormal blood ion conc... |
ORPHA:810 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Increased circulating ACTH level, Hypokalemia, Pituitary adenoma, Oli... |
OMIM:219090 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Leukocytosis |
ORPHA:98827 |
Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity, Sinusitis |
ORPHA:163703 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Decreased liver function, Wei... |
ORPHA:85450 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypohidrosis, Weight loss, Exocrine pancreatic insufficiency, Glycos... |
OMIM:219800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism, H... |
OMIM:618183 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Hepatic steatosis, Neoplasm of the thyroid gla... |
ORPHA:79474 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcer... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis,... |
OMIM:612444 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology, Hyponatremia |
ORPHA:3225 |
Snakebite Envenomation |
|
Thrombocytopenia, Hypopituitarism, Hyponatremia |
ORPHA:449285 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Peritonitis, Leukocytosis, Hyponatremia,... |
ORPHA:391673 |
Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|