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Gene: Adrm1 MGI:1929289

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adhesion regulating molecule 1 26S proteasome ubiquitin receptor
Synonyms:
2510006J17Rik,  1110063P18Rik,  Rpn13,  ARM-1,  Gp110

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 Adrm1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Adrm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Androgen Insensitivity Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... OMIM:300068
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Inguinal hern... OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... ORPHA:2969
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... ORPHA:563609
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Pancreatitis ORPHA:79084
Ataxia-Telangiectasia
Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries, Type II diabetes mellitus, Del... ORPHA:100
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Dysmenorrhea, Lip... ORPHA:2348
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Dysmenorrhea, Mater... ORPHA:79083
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Polycystic ovaries ORPHA:275555
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... ORPHA:528
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... ORPHA:562
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... ORPHA:90795
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... OMIM:268020
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries ORPHA:284180
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su... OMIM:615108
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spermatogenic Failure 17
Male infertility OMIM:617214
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Congenital Fibrinogen Deficiency
Micropenis, Splenic rupture, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... OMIM:151660
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic i... OMIM:246200
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Congenital contracture OMIM:619036
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Acute pancreatitis, Diabetes mellitus, Lipodystrophy, Reduce... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Acute pancreatitis, Lipodystrophy, Elevated hemoglobin A1c, ... OMIM:269700
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Peritoneal abscess, Abscess, Renal cyst, Ovarian cy... ORPHA:400
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Omphalocele, Elevated circulating luteinizing hormone level, Hypoplasia of the ... OMIM:618419
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Neoplasm of the thymu... ORPHA:744
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Absence of subc... OMIM:269880
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipomas, Ovarian ser... ORPHA:276280
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruation, Polycystic... ORPHA:264580
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorrhea, Anemia ORPHA:79240
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Acquired Generalized Lipodystrophy
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst, Thyroid adenoma OMIM:617100
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Inguinal hernia, Patent ductus arteriosus, Ovarian cyst, Splenic cyst, Umbil... OMIM:618188
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli c... OMIM:175200
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... ORPHA:2298
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter ORPHA:371428
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... OMIM:617253
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Infantile Systemic Hyalinosis
Camptodactyly of finger, Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Pol... ORPHA:2176
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Gonadal dysgenesis, Abn... OMIM:611926
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... OMIM:602450
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... OMIM:188400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Polycystic kidney dysplasia, Camptodactyly, Joint contr... OMIM:214110
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple renal cysts, Cervix cancer, Anemia ORPHA:2869
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Inguinal hernia, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypop... OMIM:612541
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... OMIM:614527
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Irregular menstruation, Thyroiditis, Polycystic ovaries, Menorrhagia, Delaye... ORPHA:79259
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Abnormal... OMIM:208900
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... ORPHA:97282
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hypothalamic hamartoma, Enamel hypop... OMIM:311200
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97283
Grfoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97261
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, He... ORPHA:85450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Ppoma
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... ORPHA:97278
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin... OMIM:209900
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... ORPHA:97280
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Diabetes ... ORPHA:125
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious pubert... ORPHA:769
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Immunodeficiency 9
Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... ORPHA:99226
Opitz Gbbb Syndrome
Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Congenital diaphragma... ORPHA:2745
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Cryptorchidism, Patent duc... ORPHA:861
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Syndromic Diarrhea
Inguinal hernia, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Hypoplas... ORPHA:84064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Leprechaunism
Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Labial h... ORPHA:508
Williams Syndrome
Hypoplasia of penis, Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morph... ORPHA:904
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hyperhidrosis, Hepatosplenomegaly, Contract... ORPHA:96123
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Increas... ORPHA:97287
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Lethal Congenital Contracture Syndrome 10
Omphalocele, Hypoplasia of the thymus OMIM:617022
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Ab... ORPHA:567
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Rectal abscess, Type I diabet... ORPHA:436252
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho... ORPHA:1896
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus OMIM:617666
Ciliary Dyskinesia, Primary, 1
Asplenia, Absent outer dynein arms, Male infertility OMIM:244400
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Adrenal hypoplasia, Morga... OMIM:613177
Pachydermoperiostosis
Splenomegaly, Elevated circulating growth hormone concentration, Anemia, Hyperhidrosis ORPHA:2796
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypospadias, Lipoatrophy, Cryptorchidism, Long penis, Flexio... OMIM:264090
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Splenomegaly, Hypohidrosis, Primary hypothyroidism, Delayed ... OMIM:219800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cystic Fibrosis
Male infertility, Exocrine pancreatic insufficiency, Pancreatitis, Hepatosplenomegaly OMIM:219700
Truncus Arteriosus
Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384

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 Adrm1

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 Adrm1.

No publications found that use IMPC mice or data for Adrm1.

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MGI Allele Allele Type Produced
Adrm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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