Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
HFM1, ATP-dependent DNA helicase homolog
Synonyms:
LOC381663,  A330009G12Rik,  Sec63d1,  Mer3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hfm1 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 Hfm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724

The table below shows human diseases predicted to be associated to Hfm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
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
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
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
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
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 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Oocyte Maturation Defect 8
Female infertility OMIM:619009
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Paternal Uniparental Disomy Of Chromosome X
Infertility, Decreased testicular size, Micropenis ORPHA:261524
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
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
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Anterior hypopituitarism, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
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
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Bardet-Biedl Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of the ovary, Hypoplasia of penis ORPHA:110
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor... OMIM:264600
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Pituitary hypothyr... ORPHA:95619
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
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
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Polycystic Ovary Syndrome 1
Amenorrhea, Enlarged polycystic ovaries, Oligomenorrhea OMIM:184700
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency ORPHA:2928
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Senior-Loken Syndrome
Premature ovarian insufficiency ORPHA:3156
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
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
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Alpha-Heavy Chain Disease
Premature ovarian insufficiency ORPHA:100025
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Delayed puberty... ORPHA:100
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Galactosemia I
Hypergonadotropic hypogonadism, Premature ovarian insufficiency OMIM:230400
Galactosemia
Cryptorchidism, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary amenorrhea,... ORPHA:352
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hyperinsulinemia, Premature ovarian insufficiency ORPHA:79237
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Premature ovarian insufficiency OMIM:609286
Rin2 Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Premature ovarian insufficiency ORPHA:217335
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Infertility, Premature pubarche, Premature adrenarche, Scrotal hypoplasia, Small ... ORPHA:398079
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Delayed puberty, Hypospadias, Micropenis, Hypoplasia of the... OMIM:151100
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Bilateral cryptorchidism, Hypospadias, Spontaneous abortion, Premature o... ORPHA:96179
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Chordee, Streak ovary, Uterus didelphys, Hypospadias, C... OMIM:618820
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Infertility, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration, Infertility, Irregular menstruation OMIM:264110
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency ORPHA:391307
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Clitoral hypertrophy, Precocious puberty, Pancreatic ... OMIM:246200
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insulin-resistant diab... ORPHA:79083
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, Delayed puberty, Diabetes mellitus, Abnormal sperm... OMIM:208900
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Decreased circulating parathyroid hormone level, Primary adrenal insufficiency... OMIM:240300
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98793
Fragile X Tremor/Ataxia Syndrome
Hypothyroidism, Impotence, Premature ovarian insufficiency OMIM:300623
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177901
Primary Lipodystrophy
Type II diabetes mellitus, Menometrorrhagia, Polycystic ovaries ORPHA:90970
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Cushing Disease
Infertility, Menorrhagia, Metrorrhagia, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian... ORPHA:96253
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Micropenis, Hypoplasia of the ovary OMIM:619321
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Infertility, Premature pubarche, Scrotal hypoplasia, Small pituitary gland, Centr... ORPHA:398069
Renal Nutcracker Syndrome
Infertility, Vulval varicose vein, Dyspareunia, Dysmenorrhea, Varicocele ORPHA:71273
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Prader-Willi Syndrome
Cryptorchidism, Infertility, Premature pubarche, Premature adrenarche, Scrotal hypoplasia, Small ... ORPHA:739
Non-Acquired Panhypopituitarism
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:90695
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Ciliary Dyskinesia, Primary, 37
Infertility, Goiter, Hypothyroidism OMIM:617577
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea ORPHA:370
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Clitoral hypertrophy, P... OMIM:269700
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Polycystic ovaries, Delayed puberty, Dysmenorrhea ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Hyperinsulinemia, Clitoral hypertrophy, P... OMIM:608594
Progeroid Short Stature With Pigmented Nevi
Chordee, Delayed puberty, Hypospadias, Diabetes mellitus, Premature ovarian insufficiency OMIM:176690
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Adrenal calcification, Primary testicular failure, Pr... ORPHA:85138
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Polycystic ovaries, Secondary amenorrhea, Dysmenorrhea, Diabetes mellitus... ORPHA:280365
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Abse... ORPHA:95494
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries ORPHA:79086
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
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Elevated circulating 17-hydroxyproge... OMIM:201750
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries OMIM:151660
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
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
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Hypospadias, Shawl scrotum OMIM:219721
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Noonan Syndrome 1
Cryptorchidism, Hypogonadism, Male infertility, Hypospadias OMIM:163950
Cystinosis, Nephropathic
Male hypogonadism, Delayed puberty, Primary hypothyroidism, Diabetes mellitus, Male infertility OMIM:219800
Orofaciodigital Syndrome I
Ovarian cyst, Pancreatic cysts OMIM:311200
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Hypothyroidism, Polycystic ovaries, Delayed puberty, Menorrh... ORPHA:79259
Histiocytoid Cardiomyopathy
Polycystic ovaries ORPHA:137675
Alström Syndrome
Hyoplasia of the Leydig cells, Puberty and gonadal disorders, Hyperinsulinemia, Oligospermia, Hyp... ORPHA:64
Cystic Fibrosis
Male infertility OMIM:219700

Histopathology

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

There is no histopathology data for Hfm1

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 Hfm1.

No publications found that use IMPC mice or data for Hfm1.

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MGI Allele Allele Type Produced
Hfm1tm46118(L1L2_hubi_P) Targeting vectors
Hfm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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