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Gene: Ranbp9 MGI:1928741

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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:
RAN binding protein 9
Synonyms:
IBAP-1,  RanBPM

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 Ranbp9 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 Ranbp9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis, Death in infancy OMIM:268650
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
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
Young Syndrome
Azoospermia OMIM:279000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Oocyte Maturation Defect 8
Female infertility OMIM:619009
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Delayed puberty... ORPHA:100
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insulin-resistant diab... ORPHA:79083
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries ORPHA:2348
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Clitoral hypertrophy, Precocious puberty, Pancreatic ... OMIM:246200
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Bardet-Biedl Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of the ovary, Hypoplasia of penis ORPHA:110
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Primary Lipodystrophy
Type II diabetes mellitus, Menometrorrhagia, Polycystic ovaries ORPHA:90970
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus OMIM:210900
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Patent ductus arteriosus, Hypoplasia of penis, Hypogonadotropic hypo... ORPHA:251066
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea ORPHA:370
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Short stature, Postnatal growth retardation OMIM:616113
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea ORPHA:264580
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
H Syndrome
Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli... ORPHA:168569
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Polycystic ovaries, Secondary amenorrhea, Dysmenorrhea, Diabetes mellitus... ORPHA:280365
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Clitoral hypertrophy, P... OMIM:269700
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Clitoral hypertrophy, P... OMIM:608594
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death OMIM:224410
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries ORPHA:79086
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries OMIM:151660
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Elevated circulating 17-hydroxyproge... OMIM:201750
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Delayed puberty, Hypospadias, Micropenis, Hypoplasia of the... OMIM:151100
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Orofaciodigital Syndrome I
Ovarian cyst, Pancreatic cysts OMIM:311200
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Pancreatic hypoplasia, Typ... OMIM:602782
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Chordee, Streak ovary, Uterus didelphys, Hypospadias, C... OMIM:618820
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Hypothyroidism, Polycystic ovaries, Delayed puberty, Menorrh... ORPHA:79259
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries ORPHA:2869
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Primary adrenal insufficiency... OMIM:240300
Arthrogryposis Multiplex Congenita 6
Hypospadias, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Abnormal sperm... OMIM:208900
Histiocytoid Cardiomyopathy
Polycystic ovaries ORPHA:137675
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Micropenis, Hypoplasia of the ovary OMIM:619321
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligospermia OMIM:614813
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concentration, Insul... ORPHA:769
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Williams Syndrome
Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Cholelithiasis, Polycystic ovaries, Ure... ORPHA:904
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Cholelithiasis ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Death in infanc... ORPHA:534
Cowden Syndrome
Abnormality of the uterus, Goiter, Abnormal penis morphology, Endometrial carcinoma, Neoplasm of ... ORPHA:201
Limb-Mammary Syndrome
Absent nipple, Aplasia of the ovary, Bilateral breast hypoplasia, Breast aplasia, Primary amenorr... ORPHA:69085
Alström Syndrome
Hyoplasia of the Leydig cells, Puberty and gonadal disorders, Hyperinsulinemia, Oligospermia, Irr... ORPHA:64
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Opitz Gbbb Syndrome
Cryptorchidism, Thyroglossal cyst, Bifid scrotum, Enlarged ovaries, Patent ductus arteriosus, Bic... ORPHA:2745
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99228
Monosomy X
Abnormality of the ovary, Increased circulating gonadotropin level, Hyperinsulinemia, Gonadoblast... ORPHA:99226
Leprechaunism
Long penis, Hyperinsulinemia, Enlarged ovaries, Central hypothyroidism, Increased circulating ren... ORPHA:508
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Schinzel-Giedion Syndrome
Central hypothyroidism, Streak ovary, Hypospadias, Micropenis, Annular pancreas ORPHA:798
Noonan Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Hypogonadism, Male infertility OMIM:163950
Cystinosis, Nephropathic
Male hypogonadism, Delayed puberty, Primary hypothyroidism, Diabetes mellitus, Male infertility OMIM:219800
Proteus Syndrome
Ovarian neoplasm, Long penis, Macroorchidism, Neoplasm of the thymus, Testicular neoplasm, Thymus... ORPHA:744
Cystic Fibrosis
Male infertility OMIM:219700
Pmm2-Cdg
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Hyperp... ORPHA:79318

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 Ranbp9

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 Ranbp9.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
An AXL/LRP-1/RANBP9 complex mediates DC efferocytosis and antigen cross-presentation in vivo. The Journal of clinical investigation (February 2014) Ranbp9tm1c(EUCOMM)Hmgu PMC3934164

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MGI Allele Allele Type Produced
Ranbp9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ranbp9tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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