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Gene: Lhx9 MGI:1316721

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox protein 9
Synonyms:
LH2B,  3110009O07Rik,  Lhx9 alpha

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lhx9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lhx9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Hypospadias, Increased serum testosterone level, Aplasia o... ORPHA:90797
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
46,Xy Sex Reversal 4
Sex reversal, Gonadal dysgenesis OMIM:154230
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Elevated circulating follicle sti... OMIM:618723
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hy... OMIM:614841
46,Xy Sex Reversal 9
Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis OMIM:616067
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
46,Xy Sex Reversal 10
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... OMIM:616425
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... ORPHA:163971
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Ovarian Dysgenesis 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Male hypogonad... ORPHA:261534
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy OMIM:212840
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Increased serum testosterone level, Aplasia of the uterus,... ORPHA:99429
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Cerebral cortical atrophy, Premature ovarian insu... ORPHA:101006
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Microcephaly, Hypergonadotropic hypogonadism OMIM:614129
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Decreased serum estradiol, Increas... OMIM:615300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
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 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
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Decreased serum es... ORPHA:347
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy OMIM:613762
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Myotonic Dystrophy 2
Hypogonadism, Oligospermia, Diabetes mellitus, Elevated circulating follicle stimulating hormone ... OMIM:602668
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism OMIM:607080
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus OMIM:615363
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... ORPHA:206484
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Hypo... ORPHA:752
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Perrault Syndrome 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233400
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Increased circulating androstenedione concentration, Increase... ORPHA:90795
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 2B
Primary amenorrhea, Delayed puberty, Premature ovarian insufficiency OMIM:300604
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Leopard Syndrome 1
Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... OMIM:151100
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:95619
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Aplasia of the ovary, Bilateral breast hypoplasia, Pr... ORPHA:69085
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... ORPHA:3044
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina morphology, Primary... ORPHA:247768
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
47,Xyy Syndrome
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Oligospermia, Hypospadias, Fused labia m... ORPHA:95699
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... ORPHA:2959
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... ORPHA:753
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... ORPHA:759
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Microcephaly, Hypoplasia of the uterus OMIM:614851
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Serkal Syndrome
Abnormality of the adrenal glands, Abnormal penis morphology, Sex reversal, Hypospadias ORPHA:139466
Paternal Uniparental Disomy Of Chromosome X
Micropenis, Infertility, Decreased testicular size ORPHA:261524
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... ORPHA:99725
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, O... ORPHA:786
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Diabetes mellitus, Primary amenorrhea, Cryptorchidism,... OMIM:610628
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... OMIM:158330
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Hypo... ORPHA:91354
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Meningioma
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... ORPHA:2495
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Leukoencephalopathy, Primary amenorrhea, Decreased circulating progesterone... OMIM:603896
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Cerebral cortical atrophy, Premature ovarian insufficiency OMIM:619425
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... ORPHA:96181
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:612702
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... OMIM:102200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:609441
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Bardet-Biedl Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary ORPHA:110
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic ... OMIM:614963
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Adrenal hypoplasia, Micropenis, Ambiguous genitalia, Aplasia/Hypoplasi... OMIM:612651
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-lik... ORPHA:79239
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
46,Xy Ovotesticular Disorder Of Sex Development
True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ... ORPHA:325345
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:79085
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal OMIM:611812
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Spastic Paraplegia 26, Autosomal Recessive
Cerebral cortical atrophy, Decreased serum testosterone concentration OMIM:609195
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... OMIM:604367
Pituitary Apoplexy
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... ORPHA:95613
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Hypogonadotropic hypogonadism, Decreased serum estradiol, Primary amenorrhea, H... OMIM:604168
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... OMIM:618419
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatitis, Decreased ... ORPHA:435651
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... ORPHA:95496
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Amed Syndrome, Digenic
Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus OMIM:619151
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:244200
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Pancreatitis ORPHA:79084
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:435660
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:90695
Congenital Generalized Lipodystrophy
Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clitoral hypertrop... ORPHA:528
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Amenorrhea OMIM:604250
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... ORPHA:90790
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating cortisol level OMIM:600955
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism, Decreased serum insulin-like g... ORPHA:85327
Lig4 Syndrome
Amenorrhea, Micropenis, Hypothyroidism, Cryptorchidism, Microcephaly OMIM:606593
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98754
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Xerosto... ORPHA:398079
Interstitial Cystitis
Abnormal vagina morphology, Abnormality of the menstrual cycle, Dyspareunia, Abnormal labia morph... ORPHA:37202
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:98793
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Colpocephaly, Absent septum pellucidum, Clitoral hypertrophy, Micropenis, O... OMIM:309801
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:177901
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Pmm2-Cdg
Hyperplastic labia majora, Hypogonadotropic hypogonadism, Elevated circulating thyroid-stimulatin... ORPHA:79318
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, Absence of labia majora, M... ORPHA:495875
Campomelic Dysplasia
Sex reversal OMIM:114290
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, External genital hypoplasia, Micropenis, Clitoral hypopl... ORPHA:97360
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Redu... OMIM:137920
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:739
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... ORPHA:398073
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resistant diabetes... ORPHA:79083
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... ORPHA:769
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Diabetes mellitus, E... OMIM:617253
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... ORPHA:100
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Agenesis of corpus callosum, Dysplastic corpus callosum, Streak ovary, Chordee, Colp... OMIM:618820
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Amenorrhea, Septo-optic dyspl... ORPHA:95494
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphroditism OMIM:250790
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... ORPHA:237
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Hypospadias, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... OMIM:201810
Camptobrachydactyly
Septate vagina ORPHA:1319
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Diabetes mellitus ORPHA:2348
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Infertility, Type II diabetes mellitus, Xerosto... ORPHA:398069
Primary Lipodystrophy
Pancreatitis, Polycystic ovaries, Type II diabetes mellitus, Menometrorrhagia ORPHA:90970
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis OMIM:140000
Donohue Syndrome
Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertrophy, Precocious puberty, Hyperins... OMIM:246200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Camptobrachydactyly
Septate vagina OMIM:114150
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Primary amenorrhea, Fused labia minora ORPHA:2975
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Cerebral a... OMIM:261540
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... OMIM:209900
Sheehan Syndrome
Central adrenal insufficiency, Oligomenorrhea, Abnormal size of pituitary gland, Decreased circul... ORPHA:91355
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Meacham Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Vaginal atresia, Ambiguous genitalia, Abnormal f... ORPHA:3097
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Vesicovaginal fistula, Vaginal atresia, Transverse vaginal septum, Cryptorc... OMIM:236700
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Primary testicular failure, Abnormal testis morphology, Male infertility ORPHA:85450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Microcephaly, Hypergonadotropic hypogonadism OMIM:227650
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertrophy, Clitoral ... OMIM:269700
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Somatomammotropinoma
Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, P... ORPHA:314769
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Vulval varicose vein, Dyspareunia, Varicocele ORPHA:71273
Denys-Drash Syndrome
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... OMIM:194080
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Pituitary adenoma, Hyperhidrosis, Hypopituitarism, ... OMIM:300942
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... ORPHA:226307
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Hypothyroidism, ... OMIM:615109
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Meckel Syndrome 12
Microcephaly, Vaginal atresia, Agenesis of corpus callosum, Cerebral hypoplasia OMIM:616258
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertrophy, Clitoral ... OMIM:608594
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Vipoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... ORPHA:97282
Acromegaly
Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, A... ORPHA:963
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Ppoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Cholelith... ORPHA:97278
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615108
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thyroid carcinoma, Increased circulating cortisol level, Abnormali... ORPHA:249
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Microcephaly OMIM:619321
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the thymus, Increased circulating cortisol ... ORPHA:97261
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Irregular menstruation, Delayed puberty ORPHA:370
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Cowden Syndrome 1
Goiter, Hemimegalencephaly, Ovarian cyst, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroidit... OMIM:158350
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Somatostatinoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Medullary... ORPHA:97283
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Decreased adiponectin level... ORPHA:280365
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... OMIM:131100
Alg6-Cdg
Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Hypoplastic nipples, Urethral stenosis, Xerostomia, Hypogonadotropic hyp... OMIM:604292
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Irregular menstruation, Delayed puberty ORPHA:264580
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus, Progressive microcephaly, Cerebr... ORPHA:79328
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Urethral stricture, Cryptorchidism, Hydrometrocolpos, Glandular hypospa... ORPHA:2473
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Oligomenorrhea ORPHA:79240
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Abnormality of the... OMIM:201750
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Glucagonoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Increased... ORPHA:97280
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal fallopian tube morphology, Pancr... ORPHA:1655
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Hypoplastic nipples, Rectovaginal fistula, Xerostomia, Hypogonadotropic ... OMIM:129900
Pallister-Hall Syndrome
Abnormal prolactin level, Hypospadias, Arrhinencephaly, Thyroid hypoplasia, Adrenal hypoplasia, M... ORPHA:672
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Neoplasm of the th... ORPHA:99889
Exstrophy-Epispadias Complex
Male sexual dysfunction, Bifid scrotum, Bifid uterus, Absent penis, Female sexual dysfunction, Bi... ORPHA:322
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Meacham Syndrome
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina OMIM:608978
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Fused labia minora, Hypoplastic labia majora, Vaginal atresia OMIM:207410
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Absent penis, Microphallus, Abnormal cerebral morphology, Clitoral hypertr... ORPHA:284339
Malakoplakia
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis ORPHA:556
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Microcephaly, Increased circulating gonadotropin level OMIM:301030
Smith-Lemli-Opitz Syndrome
Hypospadias, Hypoplasia of the frontal lobes, Bifid scrotum, Bicornuate uterus, Micropenis, Ambig... OMIM:270400
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Acute pancreatitis, Polycystic ovaries, Hyperinsulinemia ORPHA:79086
Bloom Syndrome
Oligospermia, Azoospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Pulmonary carcinoid tumor, Eleva... ORPHA:97287
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Abse... OMIM:273395
Cystinosis, Nephropathic
Cerebral calcification, Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mel... OMIM:219800
Schinzel-Giedion Syndrome
Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Micropenis, Hypoplasia of th... ORPHA:798
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Acute pancreatitis, La... OMIM:151660
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Trichorhinophalangeal Syndrome, Type Ii
Hydrometrocolpos, Microcephaly OMIM:150230
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Abnormal corpus striatum morphology, Type II dia... ORPHA:3455
Peters Plus Syndrome
Hypospadias, Congenital hypothyroidism, Aplasia/Hypoplasia of the corpus callosum, Anterior hypop... ORPHA:709
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Uterus didelphys, Absent gallbladder OMIM:617925
Ulnar-Mammary Syndrome
Imperforate hymen, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Anterior pituitary hy... OMIM:181450
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Long penis, Cryptorchidism, Agenesis of corpus c... OMIM:264090
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Hydrometrocolpos OMIM:617088
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Aplasia of... ORPHA:457284
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Apert Syndrome
Megalencephaly, Absent septum pellucidum, Vaginal atresia, Cryptorchidism, Agenesis of corpus cal... OMIM:101200
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst ORPHA:400
Currarino Syndrome
Rectovaginal fistula, Bicornuate uterus, Septate vagina OMIM:176450
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Johanson-Blizzard Syndrome
Hypospadias, Hypoplastic nipples, Rectovaginal fistula, Urethrovaginal fistula, Clitoral hypertro... OMIM:243800
Leprechaunism
Central hypothyroidism, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral hypertrophy, O... ORPHA:508
Fraser Syndrome
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... ORPHA:2052
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Male infertility, Hypospadias OMIM:163950
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Orofaciodigital Syndrome I
Abnormal cortical gyration, Pancreatic cysts, Hypothalamic hamartoma, Ovarian cyst, Porencephalic... OMIM:311200
Chand Syndrome
Imperforate hymen, Hypohidrosis ORPHA:1401
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Premature adrenarche, Diabetes mellitus ORPHA:2976
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Imperforate hymen, Chordee, Microcephaly, Urethral stricture, Cryptorchidism, Hydroc... OMIM:619522
Microphthalmia, Syndromic 2
Hypospadias, Adrenal insufficiency, Septate vagina, Hypothyroidism, Cryptorchidism, Hypoplasia of... OMIM:300166
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Adams-Oliver Syndrome 1
Imperforate hymen, Pachygyria, Polymicrogyria, Periventricular leukomalacia, Hypoplasia of the co... OMIM:100300
Fraser Syndrome 1
Hypospadias, Abnormal cortical gyration, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vag... OMIM:219000
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Irregular menstruatio... ORPHA:64
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Duodenal Neuroendocrine Tumor
Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Elevated circulating growth hormone... ORPHA:100076
Mowat-Wilson Syndrome
Hypospadias, Bifid scrotum, Oligomenorrhea, Large basal ganglia, Chordee, Microcephaly, Focal whi... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... ORPHA:261537
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Focal hypointensity of cerebral white matter on MRI, Bifid scrotum, Cerebral white m... ORPHA:261552
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lhx9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lhx9.

No publications found that use IMPC mice or data for Lhx9.

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MGI Allele Allele Type Produced
Lhx9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lhx9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx9tm41478(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lhx9tm41477(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lhx9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx9tm41476(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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