banner
Genes Phenotypes Help, News, Blog

Gene: Mcm9 MGI:1918817

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
minichromosome maintenance 9 homologous recombination repair factor
Synonyms:
9030408O17Rik,  Mcmdc1

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 Mcm9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mcm9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 4
Primary amenorrhea OMIM:616185

The table below shows human diseases predicted to be associated to Mcm9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... ORPHA:145
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... ORPHA:157798
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
46,Xy Sex Reversal 10
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... OMIM:616425
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Subependymoma
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... ORPHA:251639
Ependymoma
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Neoplasm of the liver... ORPHA:251636
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Astrocytoma, Goiter, Neoplasm of the adrenal... ORPHA:163634
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule, Nephrob... OMIM:180295
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea OMIM:136680
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
N Syndrome
Hypospadias, Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism OMIM:310465
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy OMIM:613762
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Familial Hyperprolactinemia
Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Neoplasm of the lung, Neoplasm of the central nervous system, Neo... ORPHA:83469
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Dif... ORPHA:314478
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the breast, Visceral angiomatosis, Lymphangioma, Neoplasm of the th... ORPHA:137608
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hepatic steatosis OMIM:615703
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian neoplasm, Anemia, Chromosome breakage OMIM:617883
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Neoplasm, Neoplasm of the respiratory system ORPHA:2221
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma... ORPHA:902
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Peutz-Jeghers Syndrome
Neoplasm of the lung, Abnormality of the gallbladder, Stomach cancer, Neoplasm of the nose, Neopl... ORPHA:2869
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
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
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
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
Cowden Syndrome 1
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Ovarian cyst, Thyroid ... OMIM:158350
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovarian fibro... ORPHA:314473
Bloom Syndrome
Decreased fertility in females, Chromosome breakage, Type II diabetes mellitus, Abnormality of ch... OMIM:210900
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Brain neoplasm, Neoplasm of the pancreas, Metrorrhagia, Pancreatitis, Periphera... ORPHA:370348
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Carney Complex
Oligospermia, Thyroid carcinoma, Gonadal neoplasm, Sertoli cell neoplasm, Neoplasm of the pharynx... ORPHA:1359
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Breast carcinoma, Ab... ORPHA:1916
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... ORPHA:523
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Hepatic ste... ORPHA:91
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Denys-Drash Syndrome
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... OMIM:194080
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... ORPHA:480536
Lynch Syndrome
Ovarian neoplasm, Neuroblastoma, Neoplasm of the rectum, Hepatocellular carcinoma, Glioblastoma m... ORPHA:144
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Neoplasm of the liver, Breast carcinoma, Hepatosplenomegaly, Ovarian c... ORPHA:1333
Cowden syndrome 3
Renal cell carcinoma, Neoplasm of the thyroid gland, Uterine leiomyoma OMIM:615106
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma, Decreased circulating renin level, Glucocortocoid-insen... ORPHA:231632
Ataxia-Telangiectasia
Type II diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, Neoplasm, Abn... ORPHA:100
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Lhermitte-Duclos Disease
Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast, Neoplasm of the thyroid gland ORPHA:65285
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Cowden-Like syndrome
Endometrial carcinoma, Breast carcinoma, Papillary thyroid carcinoma, Uterine leiomyoma OMIM:612359
Testicular Germ Cell Tumor
Azoospermia, Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... OMIM:227650
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Legius Syndrome
Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Male urethral meatus sten... ORPHA:137605
Cowden Syndrome
Neoplasm of the skin, Meningioma, Goiter, Endometrial carcinoma, Papilloma, Conjunctival hamartom... ORPHA:201
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... OMIM:600901
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphoproliferative disorder, Splenomeg... OMIM:609981
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Hypogonadotr... OMIM:235200
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Cutane... OMIM:150800
Young Syndrome
Azoospermia OMIM:279000
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Fanconi Anemia, Complementation Group L
Chromosome breakage, Micropenis, Anemia, Abnormality of chromosome stability OMIM:614083
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Goiter, Abnormality of the menstrual cycle, Po... ORPHA:457059
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... ORPHA:769
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal breakage induced by ... OMIM:227645
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency OMIM:619518
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Hepatomegaly, Appendiceal mucinous neoplasm, Increased serum serotonin, Primary... ORPHA:100079
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Muir-Torre Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... ORPHA:587
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Type II diabetes mellitus, Abnormality of chromosome stability, Acute... ORPHA:99812
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Rhabdomyoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Ovari... OMIM:109400
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Pancytopenia, Cirrhosis OMIM:613987
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Neoplasm of the or... ORPHA:543
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Chromosomal breakage induced by cro... OMIM:605724
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Cowden Syndrome 6
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... OMIM:615109
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Fanconi Anemia, Complementation Group D2
Neutropenia, Annular pancreas, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Chromosomal br... OMIM:227646
Crouzon Syndrome
Dysgerminoma OMIM:123500
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic ... OMIM:268020
Leprechaunism
Hepatomegaly, Central hypothyroidism, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... ORPHA:508
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Thyroglossal cyst, Cryptorchidis... ORPHA:2745
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Ovarian teratoma, Small cell lun... ORPHA:1183
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... ORPHA:2126
Apert Syndrome
Ovarian neoplasm ORPHA:87
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Fanconi Anemia, Complementation Group F
Leukopenia, Decreased response to growth hormone stimulation test, Anemia, Chromosomal breakage i... OMIM:603467
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Atypical Werner Syndrome
Ovarian neoplasm, Neoplasm of the skin, Secondary amenorrhea, Meningioma, Insulin-resistant diabe... ORPHA:79474
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability, Neoplasm OMIM:215510
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrh... OMIM:604367
Bloom Syndrome
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract t... ORPHA:125
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Cowden Syndrome 5
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... OMIM:615108
Steinert Myotonic Dystrophy
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Endometrial carcinoma,... ORPHA:273
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Anemia, Hypogonadism, Abnormal testis morphology, Primary testicular ... ORPHA:85450
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Cuta... ORPHA:562
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Neoplasm of the lung, Meningioma, Neoplasm of the central nervo... ORPHA:744
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Im... ORPHA:330015
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Preeclampsia
Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Type I diabetes mellitus, ... ORPHA:275555
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Cirr... ORPHA:528
Peutz-Jeghers Syndrome
Biliary tract abnormality, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ovarian cyst, Br... OMIM:175200
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Fanconi Anemia, Complementation Group N
Neuroblastoma, Chromosomal breakage induced by crosslinking agents, Aplastic anemia, Nephroblasto... OMIM:610832
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hemangioma, Hypogonadism ORPHA:2067
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
Meningioma
Neoplasm of the skin, Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:2495
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Azoospermia, Abn... ORPHA:300298
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Palmoplantar hyperhidrosis, Carcinoma, Laryngeal carcinoma, External genital hypopla... OMIM:610644
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Abnormality of the thymus, Abnormality of chromosome stability, Chromosome breakage OMIM:208910
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Oligomen... ORPHA:370
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Th... OMIM:300514
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula... OMIM:609053
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Donohue Syndrome
Hepatic fibrosis, Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Cholestasi... OMIM:246200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Basal cell carcinoma, Cardiac fibroma, Ovar... ORPHA:77301
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Polycystic ovaries... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenorrhea, Polycysti... ORPHA:79240
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Familial Colorectal Cancer Type X
Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Glioblastoma mul... ORPHA:440437
Transcobalamin Deficiency
Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia ORPHA:859
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Porokeratosis 1, Multiple Types
Neoplasm of the skin, Abnormality of chromosome stability OMIM:175800
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypertrophy, Micropenis... ORPHA:335
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Fanconi Anemia
Hypospadias, Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Abnormality of chromosom... ORPHA:84
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... OMIM:610755
Acquired Generalized Lipodystrophy
Hepatomegaly, Astrocytoma, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lymphoma, Cir... ORPHA:79086
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Ring Chromosome 12 Syndrome
Uterine leiomyoma, Hemangioma, Hypothyroidism, Cryptorchidism, Breast hypoplasia, Glandular hypos... ORPHA:1439
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Multiple lipomas, Nephroblastoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Neoplasm of the breast, Incre... ORPHA:249
Cystic Echinococcosis
Hepatomegaly, Biliary tract obstruction, Hepatic cysts, Cholestatic liver disease, Elevated hepat... ORPHA:400
Limbic Encephalitis With Nmda Receptor Antibodies
Neuroblastoma, Neoplasm of the lung, Neoplasm of the breast, Hodgkin lymphoma, Neoplasm of the th... ORPHA:217253
Proteus-Like Syndrome
Thymus hyperplasia, Hemangioma, Polycystic ovaries, Exostoses, Splenomegaly, Abnormality of the p... ORPHA:2969
Cancer-Associated Retinopathy
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... ORPHA:71505
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Diffuse leiomyomatosis, Abnormality of the female genitalia, Fibroma, Vagina... ORPHA:1018
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Hypogonadism, Vaginal atresia, Micropenis, Nephrogeni... OMIM:209900
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Thyroid carcinoma, Uterine leiomyoma, Pancreatic ... ORPHA:99880
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:280365
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Thyroid carcinoma, Parathyroid carcinoma, Uterine... ORPHA:143
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Meningioma, Neoplasm of the breast, Neoplasm of the adrenal cortex, Visceral a... ORPHA:109
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... ORPHA:881
Monosomy X
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... ORPHA:99226
Mosaic Monosomy X
Abnormality of the ovary, Secondary amenorrhea, Type II diabetes mellitus, Hepatic fibrosis, Gona... ORPHA:99228
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Micropenis, Biliary atresia, Cryptorchidism, Pilom... ORPHA:3310
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Rhabdomyosarcoma, Acute leukemia, Neoplasm, Lymphoma, B-cell... ORPHA:647
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic steatosis, Hyperin... OMIM:151660
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycyst... ORPHA:79259
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical carcinoma, Adrenocortical cytomegaly, Gonadoblastoma, Cardiomegaly, ... OMIM:130650
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus ORPHA:2176
Icf Syndrome
Abnormality of neutrophils, Abnormality of chromosome stability, Anemia, Lymphopenia ORPHA:2268
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts, Ovarian cyst OMIM:311200
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Elevated hep... OMIM:614527
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Alström Syndrome
Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... ORPHA:64
Cartilage-Hair Hypoplasia
Anemia, Hepatomegaly, Neutropenia, Abnormality of chromosome stability ORPHA:175
Histiocytoid Cardiomyopathy
Hepatomegaly, Polycystic ovaries, Cardiomegaly ORPHA:137675
Ovarian Dysgenesis 4
Primary amenorrhea OMIM:616185
Williams Syndrome
Type II diabetes mellitus, Urethral stenosis, Functional abnormality of male internal genitalia, ... ORPHA:904

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 Mcm9

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 Mcm9.

No publications found that use IMPC mice or data for Mcm9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Mcm9tm92946(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mcm9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter