Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal foot pad morphology Mad2l2tm1a(EUCOMM)Wtsi HET   Early adult 2.14×10-05

Download data as:  TSV  XLS

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
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

View all 129 images

View all 8 images

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
Cryptorchidism, Spina bifida, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality ... 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
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
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
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Decreased testicular size, Short stature ORPHA:436144
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
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
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Short stature, Intrauterine growth retardatio... ORPHA:261483
Young Syndrome
Azoospermia OMIM:279000
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism ORPHA:1180
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Short stature, Hypoplasia of penis, Hypogonadism, Micropenis, Obesity ORPHA:85274
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Deafness, Congenital, With Total Albinism
Hypogonadism OMIM:220900
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Spastic Paraparesis And Deafness
Hypogonadism, Short stature OMIM:312910
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Eunuchoid habitus, Breast hypoplasia, Non-obstruc... ORPHA:432
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Mental Retardation, X-Linked 2
Macroorchidism, Short stature OMIM:300428
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Short stature ORPHA:2815
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Bardet-Biedl Syndrome 5
Hypogonadism, Micropenis, External genital hypoplasia, Obesity OMIM:615983
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Delayed puberty, Short stature, Spina bifida occulta, Hypos... OMIM:151100
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Short stature, Postnatal growth retardation OMIM:616113
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Cataract-Deafness-Hypogonadism Syndrome
Hypogonadism, Short stature ORPHA:1383
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Premature ovarian insufficiency, Failure to thrive ORPHA:2278
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Decreased... ORPHA:1643
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Delayed puberty OMIM:615270
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Image Syndrome
Cryptorchidism, Adrenal hypoplasia, Intrauterine growth retardation, Hypospadias, Hypogonadism ORPHA:85173
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism ORPHA:1014
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Short stature OMIM:618165
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Oliver-Mcfarlane Syndrome
Cryptorchidism, Severe short stature, Delayed puberty, Small for gestational age, Hypoplasia of p... OMIM:275400
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Decreased fertility, Short stature, Hypogonadism, Obesity ORPHA:2233
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrh... ORPHA:91
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis, ... OMIM:614962
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Atkin-Flaitz Syndrome
Macroorchidism, Short stature, Obesity ORPHA:1193
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Megalencephaly
Truncal obesity, Macroorchidism, Long penis ORPHA:2477
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Scrotal hypoplasia, Decreased fertility, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Short stature OMIM:253320
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:601217
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
17Q11.2 Microduplication Syndrome
Macroorchidism, Short stature ORPHA:139474
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Obesity OMIM:615993
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Bardet-Biedl Syndrome 19
Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Agyria, Micropenis, Lissencephaly OMIM:300067
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Biemond Syndrome Type 2
Delayed puberty, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Bardet-Biedl Syndrome
Cryptorchidism, Short stature, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
Mental Retardation Syndrome, Belgian Type
Hypergonadotropic hypogonadism, Diabetes mellitus, Eunuchoid habitus OMIM:249599
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Primary amenorr... ORPHA:69085
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Umbilical hernia, Polycystic ovaries, Truncal obesity, Short stature ORPHA:284180
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Growth Hormone Insensitivity Syndrome
Truncal obesity, Type II diabetes mellitus, Failure to thrive, Short stature, Diabetes insipidus,... ORPHA:181393
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism OMIM:254000
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Short stature, Growth delay ORPHA:2528
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Partington Syndrome
Macroorchidism ORPHA:94083
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Short stature, Obesity OMIM:618124
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Short stature, Obesity ORPHA:3077
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity, Short stature ORPHA:3459
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Atkin-Flaitz Syndrome
Macroorchidism, Short stature, Obesity OMIM:300431
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency, Short stature OMIM:618625
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Polycystic Ovary Syndrome 1
Amenorrhea, Enlarged polycystic ovaries, Oligomenorrhea OMIM:184700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Deafness, Conductive, With Malformed External Ear
Hypogonadism OMIM:221300
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Clark-Baraitser syndrome
Macroorchidism, Obesity OMIM:300602
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Postnatal growth retardation, Decreased body weight, Intraut... OMIM:272440
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Decreased body weight, Postnatal growth retardation, External genital hypoplasia,... OMIM:612947
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Truncal obesity, Hypogonadism OMIM:268050
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Hypogonadism OMIM:608540
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Perrault Syndrome 5
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:616138
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus, Small for gestational age, Intrauterine growth reta... ORPHA:275555
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Lessel-Kubisch Syndrome
Hypogonadism, Short stature OMIM:618681
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Short stature, External genital hypoplasia, Obesity ORPHA:177910
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Cednik Syndrome
Hypogonadism, Pachygyria, Polymicrogyria, Short stature ORPHA:66631
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Short stature, Failure to thrive, Decreased testicula... OMIM:201100
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia of penis, Hyp... ORPHA:791
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Secondar... OMIM:268020
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, External genital hypoplasia, Obesity OMIM:615981
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency, Short stature ORPHA:2928
Cofs Syndrome
Intrauterine growth retardation, Hypogonadism, Short stature ORPHA:1466
Alg1-Cdg
Hypogonadism ORPHA:79327
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Cryptorchidism, Growth delay, Failure to thrive OMIM:619310
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Spinocerebellar Ataxia, Autosomal Recessive 16
Hypogonadism OMIM:615768
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Crandall Syndrome
Hypogonadism, Hypoplasia of penis, Abnormal testis morphology ORPHA:202
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Delayed puberty... ORPHA:100
Bardet-Biedl Syndrome 8
Hypospadias, Hypogonadism, Obesity OMIM:615985
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Growth delay ORPHA:163693
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Small for gestational age, Type II d... OMIM:210900
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Growth delay, Pitu... ORPHA:95619
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Short stature, Primary amenorrhea OMIM:614129
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism, Failure to thrive OMIM:617872
Conductive Deafness-Malformed External Ear Syndrome
Hypogonadism ORPHA:3216
3-Hydroxyisobutyric Aciduria
Hypogonadotropic hypogonadism, Intrauterine growth retardation ORPHA:939
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Short stature, Hypoplasia of penis, Intrauterine growth retar... ORPHA:1580
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation, Intrauterine growth retardation... OMIM:614732
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Short stature, Hypogonadism, Lissencephaly ORPHA:281090
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Fragile X Syndrome
Macroorchidism ORPHA:908
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Cryptorchidism, Polymicrogyria, Delayed puberty, Short stature, Hypospadias, D... OMIM:300354
Temple Syndrome
Cryptorchidism, Decreased response to growth hormone stimuation test, Postnatal growth retardatio... ORPHA:254516
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Cerebellar Ataxia-Hypogonadism Syndrome
Decreased fertility, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Supernumerary ni... ORPHA:1173
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Male in... OMIM:227650
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Severe intrauterine growth retardation, Truncal obesity, Small for ... ORPHA:73272
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Short stature, Reduced circulating pro... OMIM:262600
Cornelia De Lange Syndrome 5
Cryptorchidism, Postnatal growth retardation, Truncal obesity, Short stature, Decreased testicula... OMIM:300882
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Microphallus, Abnormality of the scrotum, Bifid scrotum, Hypothyroidism, Postnata... ORPHA:397590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Senior-Loken Syndrome
Premature ovarian insufficiency, Short stature ORPHA:3156
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis OMIM:612702
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism ORPHA:85283
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Hypogonadism OMIM:251240
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Bardet-Biedl Syndrome 17
Hypogonadism, External genital hypoplasia, Obesity OMIM:615994
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Patent ductus arteriosus, Hypoplasia of penis, Hypogonadotropic hypo... ORPHA:251066
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Obesity ORPHA:254525
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Postnatal growth retardation, Intrauterine growth ret... OMIM:246200
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Scrotal hypoplasia, Truncal obesity, Short stature, Hypoplasia of penis, Decrease... ORPHA:127
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism, Small for gestational age ORPHA:85323
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Prolong... OMIM:600901
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Alpha-Heavy Chain Disease
Growth delay, Premature ovarian insufficiency ORPHA:100025
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Postnatal growth retardation, Truncal obesi... ORPHA:96184
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Short stature, Hypoplasia of penis, Hypogonadism, Obesity ORPHA:3409
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614838
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism ORPHA:88637
Schaaf-Yang Syndrome
Cryptorchidism, Failure to thrive in infancy, Short stature, Hypogonadism, Micropenis, Obesity OMIM:615547
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Short stature, Hypogonadotropic hypogonadism,... OMIM:604168
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Intraut... OMIM:227645
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Short stature OMIM:302950
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Primary amenorrhea OMIM:244200
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Micropenis OMIM:147950
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Postnatal growth retardation, Hypospadias, Intrauterine growth retardation, Decre... OMIM:610198
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Impotence, Abnormality of endocrine pancreas physiology ORPHA:79230
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Small for gestational age, Failure to thrive, P... ORPHA:79237
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Galactosemia
Cryptorchidism, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary amenorrhea,... ORPHA:352
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:254531
Galactosemia I
Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Failure to thrive OMIM:230400
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Growth delay, Hypogonadism, Gonadal dysgenesis, Precocious puberty ORPHA:3306
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Bilateral cryptorchidism, Postnatal growth retardation, Intrauterine gro... ORPHA:96179
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Weight loss, Testicular atrophy, D... ORPHA:465508
Björnstad Syndrome
Hypogonadism ORPHA:123
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Cryptorchidism, Hypogonadism, Scrotal hypoplasia ORPHA:228390
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypogonadism, Cachexia ORPHA:97229
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Mild short stature, Bilateral cry... OMIM:305400
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Short stature, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented mic... ORPHA:189439
Pmm2-Cdg
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Hyperp... ORPHA:79318
Hemochromatosis, Type 2B
Hypogonadism OMIM:613313
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Camurati-Engelmann Disease, Type 2
Hypogonadism, Delayed puberty OMIM:606631
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Luscan-Lumish Syndrome
Obesity, Irregular menstruation, Short stature, Polycystic ovaries OMIM:616831
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism OMIM:615267
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Premature adrenarche, Failure to thrive in infancy, P... ORPHA:813
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98754
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Growth delay, Postnatal growth retardation, Male pseudohermaphroditism, Ob... OMIM:600122
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Shor... OMIM:615849
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
H Syndrome
Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli... ORPHA:168569
Wolfram Syndrome 1
Hypothyroidism, Growth delay, Testicular atrophy, Diabetes insipidus, Diabetes mellitus OMIM:222300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98793
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177904
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Decreased body weight OMIM:278760
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177901
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Hypogonadotropic hypogonadism OMIM:113480
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gonadotropin co... ORPHA:739
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Premature ovarian insufficiency OMIM:609286
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, Truncal obesity, Decreased testicular size, Hypogonadism, Micropenis ORPHA:3041
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Abdominal obesity, Intrauterine growth retardation, Decreased testicular size, Mic... OMIM:619321
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Short stature, Hypospadias ORPHA:3063
Rin2 Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Premature ovarian insufficiency, Umbilical hernia ORPHA:217335
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Small for gestational a... OMIM:227646
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Streak ovary, Polymic... OMIM:618820
Johnson Neuroectodermal Syndrome
Growth delay, Patent ductus arteriosus, Short stature, Hypogonadotropic hypogonadism, Decreased t... OMIM:147770
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Gonadal dysgenesis, Short stature, Polycystic ovaries ORPHA:1770
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Micropenis OMIM:617575
Bloom Syndrome
Azoospermia, Oligospermia, Small for gestational age, Abdominal obesity, Intrauterine growth reta... ORPHA:125
Werner Syndrome
Hypogonadism, Diabetes mellitus, Short stature OMIM:277700
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Acrodysostosis
Cryptorchidism, Irregular menstruation, Abnormality of female external genitalia, Short stature, ... ORPHA:950
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hormone level, Short s... OMIM:612462
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea, Obesity OMIM:600955
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cryptorchidism,... OMIM:101800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland