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
Synonyms:
2510006J17Rik,  1110063P18Rik,  Rpn13,  ARM-1,  Gp110

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 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
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diab... ORPHA:280356
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Bilateral cryptorchidism, Male infertility, Abnormal circ... OMIM:261550
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Polycystic ovaries, Loss of truncal subcutaneous adipo... OMIM:608709
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Microcephaly, Azoospermia OMIM:241000
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic h... ORPHA:3085
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Proteus-Like Syndrome
Shagreen patch, Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Abnormality of the parathyr... ORPHA:2969
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Rudiger Syndrome
Bicornuate uterus, Micropenis, Flexion contracture, Inguinal hernia, Ovarian cyst OMIM:268650
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Pancreatitis, Lipoatrophy, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... OMIM:615234
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Isolated Anencephaly
Omphalocele, Maternal diabetes, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypo... ORPHA:563609
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Insulin-resistan... OMIM:604367
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elevated circulatin... OMIM:176400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus... ORPHA:435660
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Ovarian Dysgenesis 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lipodystrophy, Decreased... ORPHA:79085
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus... ORPHA:435651
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Diabetes ... ORPHA:100
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly OMIM:602390
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Dysmenorrhea, Loss of subcutaneous adipose tissue in limbs, Polycystic ovar... ORPHA:2348
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... ORPHA:243
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Inguinal hernia, Bil... OMIM:305400
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Loss of subcutaneous adipo... ORPHA:79083
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Congenital Generalized Lipodystrophy
Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Lipodystrophy, Adi... ORPHA:528
Preeclampsia
Thrombocytopenia, Polycystic ovaries, Type I diabetes mellitus ORPHA:275555
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Absence of secondary sex characteristics, Increased circulating gonadotropin level, ... ORPHA:163971
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Leukoencephalopathy, Progressive, With Ovarian Failure
Periventricular leukomalacia, Leukoencephalopathy, Progressive leukoencephalopathy, Premature ova... OMIM:615889
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... ORPHA:261534
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Lipodystrophy, Pancreatitis, Menometrorrhagia, Spl... ORPHA:90970
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Perrault Syndrome 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... ORPHA:3044
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Contracture of the proximal interpha... ORPHA:2232
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Leukoencephalopathy, Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Increased facial adipose tissue, Dysmenorrhea, Loss of subcutaneous adipose... ORPHA:280365
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Young Syndrome
Azoospermia OMIM:279000
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Decreased proportion of CD4-positive h... ORPHA:543
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Microcephaly, Polycystic ovaries ORPHA:1580
Cowden Syndrome 1
Goiter, Hemimegalencephaly, Thyroid adenoma, Varicocele, Hyperthyroidism, Ovarian carcinoma, Thyr... OMIM:158350
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Diabete... OMIM:235200
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Donohue Syndrome
Long penis, Adipose tissue loss, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Precoci... OMIM:246200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Abnormal dental enamel morphology, Hypergona... ORPHA:10
48,Xyyy Syndrome
Primary gonadal insufficiency, Enamel hypoplasia, Male hypogonadism, Azoospermia ORPHA:99329
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:269700
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... OMIM:300845
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... OMIM:608594
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Umbilical hernia, Microcephaly ORPHA:284180
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Labial pseudohypertrophy, Loss of subcutaneous adipose tissue in... OMIM:151660
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Microcephaly ORPHA:1445
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Thymus hyperplasia, Cerebral atrophy OMIM:619036
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Pituicytoma
Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth... ORPHA:251623
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Omphalocele, Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevate... OMIM:618419
Cowden Syndrome 6
Goiter, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Subcutaneous lipoma, Hypothyro... OMIM:615109
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Cowden Syndrome 5
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Subcutaneous lipoma, Hypothyroidism, Ovari... OMIM:615108
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency OMIM:619518
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... ORPHA:759
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Cerebral cortical atrophy, Premature ovarian insufficiency OMIM:619425
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Azoospermia, Anemia, Abnormality of the hypothalamus-... ORPHA:300298
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Congenital Fibrinogen Deficiency
Micropenis, Splenic rupture, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Lipodystrophy, Hernia, Hypogonadism, Micropenis, Hepato... ORPHA:168569
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... ORPHA:744
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abscess, Hepatic cysts, Renal cyst, Abnormality of the testis s... ORPHA:400
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Alpha-Heavy Chain Disease
Lymphadenopathy, Anemia, Premature ovarian insufficiency, Splenomegaly ORPHA:100025
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:95619
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-lik... ORPHA:79239
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of... ORPHA:251066
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis, Umbilical hernia ORPHA:1770
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Azoospermia, Leukemia, Cryptorchidism,... OMIM:210900
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Splenomegaly, Irregular menstruation, Delayed p... ORPHA:370
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... ORPHA:125
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Leukoencephalopathy, Primary amenorrhea, Premature ovarian insufficiency, D... OMIM:603896
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Anemia, Splenomegaly, Irregular menstruation, D... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Anemia, Splenomegaly, Irregular menstruation ORPHA:79240
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Polycystic ovaries, Panniculitis, Generalized lipodystrophy,... ORPHA:79086
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Flexion contracture of toe, Azoospermia, Lymphadenopathy, Elbow flexion co... OMIM:602782
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... OMIM:102200
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Cerebral cortical atrophy, Premature ovarian insu... ORPHA:101006
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Lipoatrophy, Hydrocele testis, M... ORPHA:276280
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Abnormal dental enamel morpho... ORPHA:96263
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Peutz-Jeghers Syndrome
Iron deficiency anemia, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious pube... OMIM:175200
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Premature pu... ORPHA:99725
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger ORPHA:2928
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Abnormal spermatogenesis, Decreased proportion of CD4-positiv... OMIM:208900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Polycystic ovaries, Nodular goiter, Premature thelarche, Type I diabetes mellitus ORPHA:371428
49,Xxxxy Syndrome
Arrhinencephaly, Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Abnormal den... ORPHA:96264
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Camptoda... ORPHA:2176
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... ORPHA:249
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Elevated hemoglobin ... OMIM:617253
Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary ameno... ORPHA:352
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Hypo... ORPHA:91354
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Pituitary Apoplexy
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, No... ORPHA:95613
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent ductus arteriosus,... OMIM:612541
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Galactokinase Deficiency
Hepatosplenomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulin... ORPHA:79237
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency, Abnormal cerebral white matter morphology, Hypoplas... ORPHA:391307
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Azoospermia ORPHA:1446
Orofaciodigital Syndrome I
Abnormal cortical gyration, Pancreatic cysts, Myelomeningocele, Hypothalamic hamartoma, Hepatic c... OMIM:311200
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Abnormality of the tonsils, Decreased proportion of CD4-positive helper T cells, ... OMIM:611926
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Multiple joint contractures, Lack of facial subcutaneous fat, Insulin-resistant diab... ORPHA:2959
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Hypoparathyroidism, Adrenal insufficiency, Asplenia, Cho... OMIM:240300
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
Adenohypophysitis
Hashimoto thyroiditis, Abnormal size of pituitary gland, Amenorrhea, Decreased circulating cortis... ORPHA:95512
Panhypophysitis
Normochromic anemia, Decreased female libido, Adrenocorticotropin deficient adrenal insufficiency... ORPHA:95513
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Galactosemia I
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Chordee, Spontaneous abortion, Bilateral cryptorchidism, Contractures of the large j... ORPHA:96179
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia OMIM:602450
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Omenn Syndrome
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Peutz-Jeghers Syndrome
Cervix cancer, Pancreatic adenocarcinoma, Anemia, Multiple renal cysts, Enlarged polycystic ovaries ORPHA:2869
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Fanconi Anemia
Hypospadias, Leukopenia, Azoospermia, Umbilical hernia, Decreased fertility in males, Anemia, Abn... ORPHA:84
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Menorrhagia, Abnormal myeloid leukocyte morphology, Polycystic ovaries, Anem... ORPHA:79259
Vipoma
Adrenocortical adenoma, Normochromic anemia, Increased circulating cortisol level, Neoplasm of th... ORPHA:97282
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Joint contracture of the hand, Clitoral hypertrophy, Polycystic kidney ... OMIM:214110
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Renal cyst, ... OMIM:614527
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Hypogonadism, Abnormal tes... ORPHA:85450
Somatostatinoma
Adrenocortical adenoma, Hypochromic microcytic anemia, Increased circulating cortisol level, Neop... ORPHA:97283
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism, Keloids OMIM:314300
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Polysplenia, ... OMIM:613807
Grfoma
Adrenocortical adenoma, Pheochromocytoma, Neoplasm of the thymus, Increased circulating cortisol ... ORPHA:97261
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Ppoma
Adrenocortical adenoma, Increased circulating cortisol level, Neoplasm of the pancreas, Cholelith... ORPHA:97278
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotropic hypogonadis... OMIM:227650
Glucagonoma
Adrenocortical adenoma, Acanthocytosis, Normochromic anemia, Increased circulating cortisol level... ORPHA:97280
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... OMIM:209900
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Hypoplasia of the thymus, Enamel hypoplasia, Autoimmune hemolytic anemia OMIM:243150
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Normocytic anemia, Decreased circulating ACTH level, Pitui... ORPHA:199299
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Adenoma sebaceum, Increased circulating cortisol level, Insulinoma, Thyro... OMIM:131100
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... ORPHA:769
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:90695
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Pituitary adenoma, Hyperhidrosis, Hypopituitarism, ... OMIM:300942
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... ORPHA:201
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Azoospermia, Anemia, Cholelithiasis, Splenomegaly, Hepatosplenomegaly,... ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Umbilical hernia, Azoospermia, Anemia, Abnormal dental enamel morphology, Ing... ORPHA:534
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Normocytic a... ORPHA:85138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst, Agenesis of corpus callosum ORPHA:137675
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Amenorrhea, Septo-optic dyspl... ORPHA:95494
Opitz Gbbb Syndrome
Hypospadias, Omphalocele, Bifid scrotum, Umbilical hernia, Enlarged ovaries, Congenital diaphragm... ORPHA:2745
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... OMIM:610755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Progeroid Short Stature With Pigmented Nevi
Hypospadias, Lack of facial subcutaneous fat, Chordee, Diabetes mellitus, Premature ovarian insuf... OMIM:176690
Lethal Congenital Contracture Syndrome 10
Omphalocele, Hypoplasia of the thymus OMIM:617022
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Microcephaly ORPHA:40366
Treacher-Collins Syndrome
Thyroid hypoplasia, Rectovaginal fistula, Small scrotum, Hypoplasia of the thymus, Abnormal denta... ORPHA:861
Alström Syndrome
Oligospermia, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Hepat... ORPHA:64
Leprechaunism
Central hypothyroidism, Long penis, Enlarged ovaries, Reduced subcutaneous adipose tissue, Labial... ORPHA:508
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Williams Syndrome
Type II diabetes mellitus, Abnormality of the diencephalon, Urethral stenosis, Functional abnorma... ORPHA:904
Eec Syndrome
Hypospadias, Urethral atresia, Xerostomia, Hypoplasia of the thymus, Abnormal dental enamel morph... ORPHA:1896
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Patent ductus arteriosu... ORPHA:84064
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Somatomammotropinoma
Dysmenorrhea, Amenorrhea, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, P... ORPHA:314769
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Microcephaly, Increased circulating gonadotropin level OMIM:301030
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Chronic noninfectious lymphadeno... ORPHA:97287
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Aplasia... ORPHA:83471
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly, Micropenis, Contracture... ORPHA:96123
Acromegaly
Dysmenorrhea, Long penis, Pituitary growth hormone cell adenoma, Hypogonadotropic hypogonadism, A... ORPHA:963
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
22Q11.2 Deletion Syndrome
Hypospadias, Arrhinencephaly, Hypoplasia of the thymus, Abnormal dental enamel morphology, Patent... ORPHA:567
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Peritoneal abscess, Hypoplasia of the thymus, Abnormality of the ductus choledochus,... ORPHA:436252
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Asplenia OMIM:244400
Cystinosis, Nephropathic
Cerebral calcification, Splenomegaly, Primary hypothyroidism, Male hypogonadism, Male infertility... OMIM:219800
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucago... ORPHA:100076
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Anemia, Hyperhidrosis, Splenomegaly ORPHA:2796
Noonan Syndrome 1
Hypospadias, Amegakaryocytic thrombocytopenia, Patent ductus arteriosus, Hypogonadism, Male infer... OMIM:163950
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat tissue dist... ORPHA:79318
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cystic Fibrosis
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Male infertility, Pancreatitis OMIM:219700
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Patent ductus arteriosus 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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