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Gene: Mad2l2 MGI:1919140

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Gene Summary

Name:
MAD2 mitotic arrest deficient-like 2
Synonyms:
REV7,  2310033C13Rik,  G1-453-4,  repro22,  MAD2B

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal foot pad morphology Mad2l2tm1a(EUCOMM)Wtsi HET   Early adult 2.16×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Ambiguous
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood vessel 0.0%
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 555)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyer's patch 0.66% (1 of 152)
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
uterus 0.36% (2 of 554)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Mad2l2tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI

View all 129 images

Mad2l2tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
HOM, Unsexed, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 8 images

Mad2l2tm1a(EUCOMM)Wtsi
abnormal hair follicle morphology, HET, Female, WTSI
Mad2l2tm1a(EUCOMM)Wtsi
abnormal sebaceous gland morphology, HET, Female, WTSI

Human diseases caused by Mad2l2 mutations

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

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

The table below shows human diseases associated to Mad2l2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia
Absent testis, Decreased fertility in males, Bicornuate uterus, Abnormal preputium morphology, Hy... ORPHA:84
Fanconi Anemia, Complementation Group V
Short stature OMIM:617243

The table below shows human diseases predicted to be associated to Mad2l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Decreased testicular size, Short stature ORPHA:436144
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
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
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Crypt... ORPHA:261483
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Micropenis, Short stature, Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus OMIM:615703
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spastic Paraparesis And Deafness
Short stature, Hypogonadism OMIM:312910
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Spastic Paraparesis-Deafness Syndrome
Short stature, Hypogonadism ORPHA:2815
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Intellectual Developmental Disorder, X-Linked 2
Short stature, Macroorchidism OMIM:300428
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Short stature, Spina bifida o... OMIM:151100
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Cataract-Deafness-Hypogonadism Syndrome
Short stature, Hypogonadism ORPHA:1383
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... ORPHA:562
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism OMIM:212840
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Hypogonadism OMIM:618165
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ut... ORPHA:243
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Oliver-Mcfarlane Syndrome
Severe short stature, Hypoplasia of penis, Decreased response to growth hormone stimulation test,... OMIM:275400
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short stature, Hypogonadism, Obesity, Abnormal testis morphology, Decreased fertility ORPHA:2233
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hypogonadism, Cryptorchidism, Intrauterine growth retardation ORPHA:85173
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:601217
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr... ORPHA:2235
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Decreased... ORPHA:1643
Atkin-Flaitz Syndrome
Obesity, Short stature, Macroorchidism ORPHA:1193
Aromatase Deficiency
Growth delay, Female infertility, Ambiguous genitalia, female, Eunuchoid habitus, Type II diabete... ORPHA:91
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Leptin Deficiency Or Dysfunction
Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size, Hypogonadism, ... OMIM:614962
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habit... ORPHA:2234
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Micropenis, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria OMIM:300067
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Sh... ORPHA:3130
17Q11.2 Microduplication Syndrome
Short stature, Macroorchidism ORPHA:139474
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Short stature OMIM:253320
Bardet-Biedl Syndrome 4
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism OMIM:615982
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Bardet-Biedl Syndrome 16
Obesity, External genital hypoplasia, Hypogonadism OMIM:615993
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Hypogonadism, Obesity, Cryptorchidism ORPHA:110
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism ORPHA:242
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... ORPHA:69085
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Hypogonadism OMIM:615996
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism, Failure to thrive, Growth delay OMIM:619310
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Eunuchoid habitus, Diabetes mellitus OMIM:249599
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Secon... ORPHA:3085
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogonadism, Obesity ORPHA:141333
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for... ORPHA:261519
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... ORPHA:181393
Xp22.13P22.2 Duplication Syndrome
Short stature, Truncal obesity, Umbilical hernia, Polycystic ovaries, Macroorchidism ORPHA:284180
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia, Diabetes insipidus ORPHA:1445
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Moynahan Syndrome
Cachexia, Short stature, Hypogonadism ORPHA:2574
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Decreased body weight, Short stature OMIM:619420
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Partington Syndrome
Macroorchidism ORPHA:94083
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Hypogonadism ORPHA:2528
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Short stature, Macroorchidism ORPHA:3077
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
Atkin-Flaitz Syndrome
Obesity, Short stature, Macroorchidism OMIM:300431
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Decreased serum testosterone concentration, Cryptorchidism, Short stature, Hyp... ORPHA:163971
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Macroorchidism OMIM:300055
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... OMIM:300845
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Cryptorchidism, External genital hypoplasia, Hypogonadism ORPHA:363741
Clark-Baraitser syndrome
Obesity, Macroorchidism OMIM:300602
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Hyp... OMIM:308750
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex chara... ORPHA:2410
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, External genital hypoplasia, Short stature, Postnatal growth retardation, ... OMIM:612947
Fragile X Syndrome
Periventricular heterotopia, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Truncal obesity, Hypogonadism OMIM:268050
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s... ORPHA:247768
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Hypogonadism OMIM:608540
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, External genital hypoplasia, Hypogonadism OMIM:615981
Lessel-Kubisch Syndrome
Short stature, Hypogonadism OMIM:618681
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Cednik Syndrome
Short stature, Pachygyria, Polymicrogyria, Hypogonadism ORPHA:66631
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... ORPHA:2795
Cofs Syndrome
Short stature, Intrauterine growth retardation, Hypogonadism ORPHA:1466
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia, Short stature ORPHA:177910
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, Obesity, Abnormal... ORPHA:791
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Hypogonadism OMIM:615985
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism ORPHA:202
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... ORPHA:280356
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:614129
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Primary adrenal insufficiency, Hypogonadism OMIM:617872
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... ORPHA:95619
2P21 Microdeletion Syndrome
Failure to thrive, Growth delay, Hypogonadism ORPHA:163693
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Fragile X Syndrome
Macroorchidism ORPHA:908
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
Syndromic Recessive X-Linked Ichthyosis
Short stature, Testicular seminoma, Lissencephaly, Hypogonadism, Cryptorchidism ORPHA:281090
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... ORPHA:1227
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Short stature, Hypogonadotropic hypogonadism, Abnormality of the hypothalam... ORPHA:1173
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Short stature, Hypospadias, Polymicrogyria, Macroorchidism OMIM:618874
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Micropenis, Short stature, Hypospadias, Polymicrogyria, Decreased testicular s... OMIM:300354
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Fanconi Anemia, Complementation Group A
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Male infertility, Prolo... OMIM:227650
Preeclampsia
Small for gestational age, Increased body mass index, Type I diabetes mellitus, Polycystic ovarie... ORPHA:275555
Woodhouse-Sakati Syndrome
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone st... ORPHA:3464
Filippi Syndrome
Decreased body weight, Ambiguous genitalia, Postnatal growth retardation, Cryptorchidism, Intraut... OMIM:272440
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Cornelia De Lange Syndrome 5
Micropenis, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Postnatal gr... OMIM:300882
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Small for gestational age, Short statu... ORPHA:73272
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Short stature, Mitochondrial hypertrophy, Premature ovaria... OMIM:619518
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes m... OMIM:268020
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Arrhinencephaly, Decreased testicula... ORPHA:96264
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... OMIM:262600
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Bifid scrotum, Small for gestational age, Hypospadias, Hypothyroidism, Small placen... ORPHA:397590
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism OMIM:612702
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, Ma... ORPHA:90790
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Hypogonadism OMIM:615270
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Short stature, Delayed puberty, Diabetes mellitus, ... ORPHA:100
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Precocious puberty, Intrauterine growth retardation ORPHA:254525
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... ORPHA:85327
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... OMIM:614732
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
Fanconi Anemia, Complementation Group E
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Prolonged G2 phase of c... OMIM:600901
Distal Monosomy 10P
Hypoplasia of penis, Short stature, Polycystic ovaries, Cryptorchidism, Intrauterine growth retar... ORPHA:1580
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Short stature, Truncal obesity, Decreased testicular size, Hypogonadism, Cry... ORPHA:127
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... ORPHA:96184
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:614963
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... OMIM:110100
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Hypogonadism OMIM:615267
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Hypogonadism, Obesity, Cryptorchidism ORPHA:3409
3-Methylglutaconic Aciduria, Type V
Hypospadias, Decreased testicular size, Postnatal growth retardation, Cryptorchidism, Intrauterin... OMIM:610198
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Small for gestational age, Hypogonadism ORPHA:85323
Fanconi Anemia, Complementation Group C
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Prolonged G2 phase of c... OMIM:227645
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614838
Pituicytoma
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Hypogonadism OMIM:302950
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Obesity, ... ORPHA:254531
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Micropenis, Short stature, Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cr... OMIM:147950
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Growth delay, Cryptorchidism ORPHA:3306
Schaaf-Yang Syndrome
Micropenis, Short stature, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy OMIM:615547
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Impotence, Diabetes mellitus, Hypogonadism ORPHA:79230
Hemochromatosis, Type 2B
Secondary amenorrhea, Hypogonadism OMIM:613313
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Hypogonadism, Encephalocele, Intrauterine growth retardation, Small scrotum ORPHA:228390
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:244200
Björnstad Syndrome
Hypogonadism ORPHA:123
Pmm2-Cdg
Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonad... ORPHA:79318
Riboflavin Transporter Deficiency
Cachexia, Diabetes insipidus, Hypogonadism ORPHA:97229
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Postnatal growth retardation, Short stature, Abno... ORPHA:813
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Long penis, Clitora... OMIM:246200
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, ... ORPHA:478
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, C... ORPHA:528
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... ORPHA:2965
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... ORPHA:98754
Camurati-Engelmann Disease, Type 2
Delayed puberty, Hypogonadism OMIM:606631
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... ORPHA:98793
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Micropenis, Short stature, Decreased testicular size,... OMIM:619321
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Male pseudohermaphroditism, Postnatal growth retardation, Ob... OMIM:600122
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Culler-Jones Syndrome
Micropenis, Short stature, Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchi... OMIM:615849
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... ORPHA:177901
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
H Syndrome
Amenorrhea, Micropenis, Decreased testicular size, Diabetes mellitus, Delayed puberty, Azoospermi... ORPHA:168569
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Decreased response to growth hormone stimulation test, Hypospadias, Hypothyroidism, Post... ORPHA:96179
Prader-Willi Syndrome
Perisylvian polymicrogyria, External genital hypoplasia, Central adrenal insufficiency, Primary a... ORPHA:739
Bloom Syndrome
Type II diabetes mellitus, Small for gestational age, Decreased fertility in females, Azoospermia... OMIM:210900
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Growth delay, Diabetes insipidus OMIM:222300
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Increased bod... ORPHA:398069
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Truncal obesity, Decreased testicu... OMIM:209900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Short stature, Decreased testicula... OMIM:201100
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Fanconi Anemia, Complementation Group D2
Annular pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Micropenis, Short st... OMIM:227646
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Short stature, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... OMIM:604367
Luscan-Lumish Syndrome
Polycystic ovaries, Obesity, Irregular menstruation, Short stature OMIM:616831
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Micropenis, Hypothyroidism, Hypogonadism, Cryptorchidism OMIM:617575
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Streak ovary, Micropenis, Uterus dide... OMIM:618820
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Hypothyroidism, Hypogonadism, Obes... OMIM:612462
Disorder Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Hypoplasia of penis, Small scrotum, Hypogonadism ORPHA:2983
Trisomy 20P
Hypospadias, Umbilical hernia, Cryptorchidism, Spina bifida, Macroorchidism ORPHA:261318
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated calcitonin, Disproportionate short-limb short stature, Decreased growth hormone response... OMIM:101800
Acrodysostosis
Short stature, Irregular menstruation, Abnormality of female external genitalia, Hypogonadism, Cr... ORPHA:950
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary amenorrhea, Obesity OMIM:600955
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Diabetes mellitus, Hypogonadism OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... ORPHA:85450
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Short stature, Hypergonadotropic hypogonadism, Hypo... OMIM:617053
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency