Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
KiSS-1 metastasis-suppressor
Synonyms:
metastin,  kisspeptin

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 Kiss1 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 Kiss1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Sparse body hair, Eunuchoi... ORPHA:432

The table below shows human diseases predicted to be associated to Kiss1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad... OMIM:308750
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... OMIM:202150
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Xp22.3 Microdeletion Syndrome
Decreased fertility, Ectopic anus, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hyp... ORPHA:1643
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Sparse body hair, Eunuchoi... ORPHA:432
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Small for gestational age, Decreased testicular size, Decreased s... OMIM:300869
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
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
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... ORPHA:163971
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... ORPHA:261534
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Alopeci... ORPHA:453533
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
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
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614839
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:179494
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... OMIM:619761
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:617593
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
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 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 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
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
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... ORPHA:99330
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
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
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
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 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, H... ORPHA:2795
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
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
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Polyc... OMIM:608709
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Increased serum testosterone level, Synophrys, Abnormality of the ovary, ... ORPHA:247768
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
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
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Sparse axillar... ORPHA:99429
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Young Syndrome
Decreased fertility, Abnormality of the pancreas, Obstructive azoospermia ORPHA:3471
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... OMIM:278850
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... ORPHA:3000
Ane Syndrome
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, A... ORPHA:157954
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabe... OMIM:268020
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, De... ORPHA:754
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa... ORPHA:3411
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypogonadism, Abnormality of dental morphology, Hypoplasia of penis, Cryptorchi... ORPHA:85274
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... ORPHA:1916
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Bardet-Biedl Syndrome 6
External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias, Obesity OMIM:605231
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
46,Xx Gonadal Dysgenesis
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... ORPHA:243
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia ORPHA:79084
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
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Weight loss, Infertility, Hepatocellular carcinoma, Cholangiocarcinoma... ORPHA:465508
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Aarskog-Scott Syndrome
Cleft upper lip, Shawl scrotum, Hypodontia, Bilateral cryptorchidism, Widow's peak, Decreased ser... OMIM:305400
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Sparse facial hair, Absent facial hair, Hypergonadotropic hypog... ORPHA:2183
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Hepatic steatosis, Oligospermia, Obesity OMIM:615703
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Dental malocclusion, Decreased serum estradiol, Selective tooth agenesis, Small for ges... ORPHA:2959
Frasier Syndrome
Gonadoblastoma, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrome, Ambiguous gen... ORPHA:347
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Sparse axillary hair, Infertility, Sparse pubic hair, Cryptorchidism, ... OMIM:146110
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... OMIM:202110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular si... OMIM:241080
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries, Fine hair ORPHA:2228
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Alopecia, Precocious puberty, Hyperthyroidism, Abnormal testis morphology... ORPHA:457059
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Failure to thrive, Alopecia of scalp, Hypogeusia, Hepato... OMIM:201100
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Estrogen Resistance Syndrome
Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar... ORPHA:785
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
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... ORPHA:3130
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... ORPHA:1227
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... OMIM:604367
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... ORPHA:180229
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Hirsutism, Insulin-resistant di... ORPHA:90301
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Renal salt wasting, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hemochromatosis, Type 2A
Cirrhosis, Infertility, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, A... OMIM:602390
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Low anterior hairline, Oligomenorrhea, Macroglos... ORPHA:528
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Abnormality of thyroid physiology, Microphallus, Perineal hypospadias, Corpu... OMIM:615542
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Preeclampsia
Acute kidney injury, Type I diabetes mellitus, Polycystic ovaries, Proteinuria, Chronic kidney di... ORPHA:275555
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Distal Monosomy 10P
Ectopic anus, Hypoplasia of penis, Anal atresia, Polycystic ovaries, Cryptorchidism, Cleft palate ORPHA:1580
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Ataxia-Telangiectasia
Abnormal testis morphology, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Type II ... ORPHA:100
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... ORPHA:168558
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... OMIM:194072
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Breast aplasia, Eunuchoid habitus, Type I diabetes mellitus, Sparse pu... ORPHA:3044
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:261519
48,Xyyy Syndrome
Primary gonadal insufficiency, Enamel hypoplasia, High palate, Long philtrum, Thick lower lip ver... ORPHA:99329
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
48,Xxyy Syndrome
Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, Infertility, Tau... ORPHA:10
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... OMIM:400044
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Increased circulating gonadotrop... ORPHA:8
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Bardet-Biedl Syndrome
Hepatic fibrosis, Medial flaring of the eyebrow, Multicystic kidney dysplasia, Hypogonadism, Neph... ORPHA:110
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... ORPHA:435660
Meningioma
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... ORPHA:2495
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Impotence, Azoospermia, Hepatocellular carcinoma, Elevated hepatic transamin... OMIM:235200
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Azoospermia, Ectopic kidney, Low posterior hairline, Aplasia/hypoplasia of the... ORPHA:2578
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... OMIM:614962
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Renal salt wasting, Hypospadias, Adrenal hyperplasia OMIM:201910
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Cleft... OMIM:601076
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperpl... ORPHA:96181
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Gordon Holmes Syndrome
Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo... OMIM:212840
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Alopecia, Increased circulating cortisol level, Type II diabetes mellitus... ORPHA:189439
Bardet-Biedl Syndrome 1
Hepatic fibrosis, High palate, Hypogonadism, High, narrow palate, Decreased testicular size, Hypo... OMIM:209900
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Long philtrum, Premature graying of hair, ... ORPHA:280679
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Hirsutism, Fasting hyper... ORPHA:2298
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Adenomat... OMIM:617100
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Hirsutism, Oligomenorrhea OMIM:604931
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Bardet-Biedl Syndrome 12
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy... OMIM:615989
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Androgen Insensitivity Syndrome
Sparse axillary hair, Labial hypoplasia, Sparse pubic hair, Absent facial hair, Blind vagina, Ele... OMIM:300068
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... ORPHA:79083
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
46,Xy Sex Reversal 4
Hydronephrosis, High palate, Long philtrum, Sex reversal, Hypoplastic labia majora, Agonadism, An... OMIM:154230
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:614858
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Splenomegaly, Hepatic failure, High palate, Hepatosplenomegal... ORPHA:1655
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Long philtrum, Premature graying of hair, ... OMIM:300845
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, High anterior hairline, High palate, Polycystic ovaries, Sparse hair ORPHA:284180
Panhypophysitis
Abnormal size of pituitary gland, Increased circulating prolactin concentration, Gonadotropin def... ORPHA:95513
Spermatogenic Failure 17
Male infertility OMIM:617214
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... OMIM:246200
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Cowden Syndrome 6
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis, Hydrocele testis,... OMIM:615109
Renal Hypodysplasia/Aplasia 1
Primary amenorrhea, Vaginal atresia, Proteinuria, Bicornuate uterus OMIM:191830
Young Syndrome
Azoospermia OMIM:279000
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Cowden Syndrome 5
Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Thyroiditis, Hydrocele testis,... OMIM:615108
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries, Dysmenorrhea, Generalized hirsutism ORPHA:2348
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, High palate, Premature ovarian insufficiency, Sparse pubic hair, Increase... OMIM:110100
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Luscan-Lumish Syndrome
Irregular menstruation, High anterior hairline, Polycystic ovaries, Hirsutism OMIM:616831
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Hypoplastic labia majora, Gingival ove... ORPHA:97360
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Volvulus, Micropenis ORPHA:335
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... OMIM:264300
48,Xxxy Syndrome
Hypogonadism, Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, In... ORPHA:96263
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... ORPHA:572333
Satoyoshi Syndrome
Alopecia, Malabsorption, Alopecia universalis, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Abnormal hair pattern, Gonadal dysgenesis, Cleft p... ORPHA:1770
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia ORPHA:90970
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis, Cleft lip, Cleft palate OMIM:611812
Cowden Syndrome 1
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... OMIM:158350
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly OMIM:615234
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98754
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Meckel Syndrome 12
Bifid uvula, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:616258
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Diabetes mellitus,... ORPHA:2237
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... OMIM:609441
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... OMIM:240950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, High palate, Small for gestational age, Diabetic ketoacidos... OMIM:262190
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Absent scrotum, Long philtrum, Absence of labia majora, Synophrys, Broad eyebrow,... ORPHA:495875
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... OMIM:610628
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177901
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:98793
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... OMIM:146255
49,Xxxxy Syndrome
Hypogonadism, Delayed eruption of teeth, Decreased testicular size, Type II diabetes mellitus, In... ORPHA:96264
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Renal... OMIM:614736
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Long philtrum, Small for gestational age, Frontal upsweep of hair, Hypodontia, Py... OMIM:618419
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:177904
Meacham Syndrome
Patent ductus arteriosus, Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused ... ORPHA:3097
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Biliary tract abnormality, Nephrolithiasis, Hypoplasia of the uter... OMIM:137920
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:617914
Hypergonadotropic Hypogonadism-Cataract Syndrome
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... ORPHA:2410
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Male pseudohermaphroditism, Gonadal dysgenesi... OMIM:136680
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes ... ORPHA:2234
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
Temple Syndrome
Precocious puberty, High palate, Small for gestational age, Decreased testicular size, Bifid uvul... OMIM:616222
Carney Complex
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Oligospermia, Follicular thyro... ORPHA:1359
Diencephalic Syndrome
Decreased body weight, Cachexia, Long penis, Everted lower lip vermilion, Abnormality of the hypo... ORPHA:1672
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, High palate, Delayed er... OMIM:615866
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
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Anal atresia, Vaginal atresia, Narrow mouth, Cryptorchidism, Orofac... ORPHA:3301
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... ORPHA:739
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... ORPHA:398073
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
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
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypogonadism, Abnormal... ORPHA:202
8P11.2 Deletion Syndrome
Patent ductus arteriosus, High palate, Hypogonadism, Hypoplasia of penis, Azoospermia, Cryptorchi... ORPHA:251066
Central Precocious Puberty
Isosexual precocious puberty, Abnormality of secondary sexual hair, Premature thelarche, Increase... ORPHA:759
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Premature graying of hair, Long penis, Hirsutism, Furrowed to... ORPHA:769
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Decr... ORPHA:95619
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Small pituitary gland, Delayed puberty, Cryptorchidism, Cleft lip, Primary amenorrhe... OMIM:612702
Peutz-Jeghers Syndrome
Intussusception, Uterine neoplasm, Multiple gastric polyps, Neoplasm of the pancreas, Abnormality... OMIM:175200
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the liver, Abnormality of the ovary, Neoplasm of the ... ORPHA:543
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Alopecia, Hyperaldosteronism, Increased circulating cortisol level, Macro... ORPHA:189427
H Syndrome
Alopecia, Cleft upper lip, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, ... ORPHA:168569
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398079
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian... ORPHA:454840
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Delayed puberty, Oligomenorrh... ORPHA:370
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, High palate, Small for gestational age, Pyloric stenosis, Bifid uvula, Short ... ORPHA:96184
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi... ORPHA:457083
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Tetraamelia Syndrome 1
Urethral atresia, Asplenia, Cleft upper lip, Adrenal gland agenesis, Absent external genitalia, A... OMIM:273395
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Selective tooth agenesis, Fair hair, Microdontia, Sparse eyelashes, Cleft palate, Vesicoureteral ... OMIM:604292
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Elevated hepatic transaminase, ... ORPHA:300298
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... OMIM:236700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Cleft palat... OMIM:614880
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Peritonitis,... ORPHA:314473
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Hepatic am... ORPHA:314652
Interstitial Cystitis
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Abnormal labia morphology, Noc... ORPHA:37202
Igg4-Related Submandibular Gland Disease
Sialadenitis, Renal insufficiency, Prostatitis, Retroperitoneal fibrosis, Cholangitis, Abnormalit... ORPHA:449432
Pituitary Stalk Interruption Syndrome
Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pi... ORPHA:95496
Duplication Of Urethra
Vesicoureteral reflux, Anal fistula, Penile hypospadias, Urinary incontinence, Anuria, Bifid scro... ORPHA:237
Galactosemia
Decreased fertility, Cirrhosis, Hepatic failure, Secondary amenorrhea, Premature ovarian insuffic... ORPHA:352
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Hepatic cysts, Ovarian cyst, Membranous nephropathy ORPHA:400
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
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Selective tooth agenesis, Fair hair, Microdontia, Sparse eyelashes, Cleft palate, Sparse hair, Ve... OMIM:129900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Delayed puberty, Oligomenorrh... ORPHA:264580
Kallmann Syndrome
Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp... ORPHA:478
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea,... ORPHA:79240
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... OMIM:194080
Camptobrachydactyly
Septate vagina ORPHA:1319
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Hypoplasia of the vagina, Bifid scrotum, Bifi... OMIM:119500
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, High palate, Hypogonadism, Synophrys, Short philtrum, Unilateral renal agenes... ORPHA:3306
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Hirsutism, Premature pubarche, Secondary amenorrhea OMIM:612847
Autoimmune Polyendocrinopathy Type 1
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal ... ORPHA:3453
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, High palate, Short philtrum, Maturity-onset diabetes of the young, Obesity ORPHA:254531
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Patent ductus arteriosus, Multicystic kidney dysplasia, High palate, Ec... ORPHA:2473
Steinert Myotonic Dystrophy
Impotence, Elevated hepatic transaminase, Secondary hyperparathyroidism, Ovarian carcinoma, Non-m... ORPHA:273
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Anal atresia, Rectal atresia ORPHA:3016
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary h... OMIM:615830
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Secondary amenorrhea, Decreased serum leptin, Polycystic ovaries, Decr... ORPHA:280365
Silver-Russell Syndrome
Precocious puberty, Decreased testicular size, Cachexia, Abnormal vagina morphology, Hypospadias,... ORPHA:813
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... OMIM:608594
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Sparse eyebrow, Multicystic kidney dysplasia, High palate, Stage 5 chronic ki... OMIM:614527
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries, Hirsutism ORPHA:371428
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Medial flaring of the eyebrow, Widely-spaced incisors, Synophrys, Short philt... OMIM:300801
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame... OMIM:604168
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Downturned corners of mouth, Obesity ORPHA:254525
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Hypogonadotropic ... OMIM:244200
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Esophageal atresia, Androgen insufficiency, Urethral di... ORPHA:95706
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Vaginal atresia, Hypoplastic labia majora, Fused labia minora OMIM:207410
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... OMIM:269700
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Stomach cancer, Enlarged polycystic ovaries, Esophageal neoplasm, Neop... ORPHA:2869
Lig4 Syndrome
Hypothyroidism, Failure to thrive, Cryptorchidism, Micropenis, Amenorrhea OMIM:606593
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Cryptorchidism ORPHA:457205
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm ORPHA:145
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Anal atresia, Supernumerary nipple, Thin upper lip vermilion, Cryptorchidism OMIM:619243
Caudal Duplication
Intestinal duplication, Cryptorchidism, Uterus didelphys, Ureteral duplication, Abnormal penis mo... ORPHA:1756
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Infantile Systemic Hyalinosis
Malabsorption, Aplasia/Hypoplasia of the thymus, Steatorrhea, Polycystic ovaries, Abnormality of ... ORPHA:2176
Fraser Syndrome
Ambiguous genitalia, Bifid tongue, Ectopic anus, Female pseudohermaphroditism, Abnormal hair patt... ORPHA:2052
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Proteinuria, Generaliz... ORPHA:79086
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Megalencephaly
Macroorchidism, Long penis, Truncal obesity ORPHA:2477
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Prolactinoma
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... ORPHA:2965
Serkal Syndrome
Malrotation of small bowel, Sex reversal, Hypospadias, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Bicornuate uterus, Multilobulated spleen, Hypoplasia of the uterus, Pel... OMIM:601186
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Pituitary Gigantism
Increased circulating prolactin concentration, Type II diabetes mellitus, Increased circulating i... ORPHA:99725
Melioidosis
Prostatitis, Abnormal parotid gland morphology, Hepatitis, Liver abscess, Parotitis, Abnormality ... ORPHA:31202
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Imperforate hymen, Sparse lateral eyebrow, Shawl scrotum, Bicornua... OMIM:181450
Al Amyloidosis
Abnormality of the liver, Weight loss, Nephrotic syndrome, Macroglossia, Abnormal salivary gland ... ORPHA:85443
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... ORPHA:79239
Bloom Syndrome
Decreased fertility in females, Agenesis of maxillary lateral incisor, Small for gestational age,... OMIM:210900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cleft soft palate, Decreased testicular size, Hepatic steatosis, Hypoplasia of the ovar... OMIM:619321
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Decreased body weight, Bifid uvula, Cleft palate OMIM:300958
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Orofacial cleft ORPHA:457260
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia ORPHA:2969
Woolly Hair Nevus
Precocious puberty, Patchy hypopigmentation of hair, Curly hair, Widely-spaced incisors, Congenit... ORPHA:79414
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Anteriorly placed anus, Hypospadias, Hypoplasia of the uterus, Colonic atresia, Ovo... OMIM:309801
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... ORPHA:325345
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Bifid scrotum, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruc... OMIM:140000
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... ORPHA:398069
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism OMIM:160900
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... OMIM:618096
Ovarian Dysgenesis 8
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma... OMIM:618187
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Abnormal penis morphology, Nephroli... ORPHA:617
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Precocious puberty, Wide mouth, Widely spaced teeth OMIM:619877
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal vagina morphology, Bifid uterus, Hypospadias, Adrenal gland dysgenesis... OMIM:236680
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy OMIM:601163
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the pancreas, Jaundice, Neoplasm of the scrotum, Met... ORPHA:370348
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Increased urinary... ORPHA:1501
Muir-Torre Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Colon cancer, Salivary gland ne... ORPHA:587
Apert Syndrome
Dental malocclusion, Narrow palate, Ectopic anus, Delayed eruption of teeth, Esophageal atresia, ... OMIM:101200
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty, Anteriorly placed anus ORPHA:280195
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Decreased response to growth hormo... OMIM:602782
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Hirsut... OMIM:151660
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, High palate, Synophrys, Ectopic kidney, Testicular atrophy, Abnormality of the Le... ORPHA:3063
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Nail dystrophy, Oral leukoplakia OMIM:618165
Fraser Syndrome 1
Difficulty in tongue movements, Cleft upper lip, Abnormal small intestine morphology, Dental malo... OMIM:219000
Chand Syndrome
Imperforate hymen, Bifid tongue, Curly hair, Hydroureter, Commissural lip pit, Abnormal oral fren... ORPHA:1401
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
Leopard Syndrome 1