Gene Summary

Name:
zinc finger, C3HC type 1
Synonyms:
HSPC216,  1110054L24Rik,  Nipa

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 snout morphology Zc3hc1tm1a(KOMP)Wtsi HOM Early adult 5.04×10-09
abnormal cornea morphology Zc3hc1tm1a(KOMP)Wtsi HOM Early adult 1.01×10-05
male infertility Zc3hc1tm1a(KOMP)Wtsi HOM Early adult 0.00
decreased body weight Zc3hc1tm1a(KOMP)Wtsi HOM Early adult 2.97×10-09
abnormal tooth morphology Zc3hc1tm1a(KOMP)Wtsi HOM   Early adult 3.41×10-05
decreased lean body mass Zc3hc1tm1a(KOMP)Wtsi HOM   Early adult 7.79×10-09
abnormal posture Zc3hc1tm1a(KOMP)Wtsi HOM Early adult 4.79×10-05
abnormal cranium morphology Zc3hc1tm1a(KOMP)Wtsi HOM   Early adult 4.19×10-05

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 Ambiguous
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 100% (2 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 100% (2 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 0.0% (0 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 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 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 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 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 100% (2 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 Ambiguous
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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.

Histopathology

Images

9 Images

Legacy Phenotype Associated Images

View all 119 images

Human diseases caused by Zc3hc1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Zc3hc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 4
Azoospermia OMIM:270960
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
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 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Secondary amenorrhea, Type II diabetes mell... ORPHA:3085
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovaries, In... ORPHA:280356
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries, Insulin-resistant diabe... OMIM:268020
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Delayed puberty, Cryptorc... ORPHA:432
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Decreased testicular size ORPHA:261483
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
48,Xyyy Syndrome
Azoospermia, Primary gonadal insufficiency, Male hypogonadism ORPHA:99329
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Ataxia-Telangiectasia
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Type II diabetes mellitu... ORPHA:100
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility, Patent ductus arteriosus OMIM:618300
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Polycystic ovaries, Hyperinsulinemia, Abnormality ... ORPHA:1227
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Ty... OMIM:604367
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Diabetes insipidus, Amenorrhea ORPHA:1445
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:79085
Congenital Generalized Lipodystrophy
Precocious puberty in females, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:528
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Irregular menstruation, Premature pubarche, ... ORPHA:90795
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... OMIM:300845
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Decreased adiponectin level, Insulin-resist... ORPHA:435660
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Decreased s... ORPHA:435651
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes mellitus, Hypergo... ORPHA:10
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Insulin-resistant diabetes mellitus, Second... ORPHA:79083
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Hypothyroidism, Male hypogonadism OMIM:618625
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovarie... ORPHA:90301
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries, Dysmenorrhea ORPHA:2348
Mccune-Albright Syndrome
Abnormal endocrine physiology, Irregular menstruation, Goiter, Increased serum testosterone level... ORPHA:562
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Donohue Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Long penis, Ovarian cyst, Precocious puberty... OMIM:246200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Gonadal... OMIM:612964
Cowden Syndrome 6
Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis,... OMIM:615109
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Primary Lipodystrophy
Type II diabetes mellitus, Menometrorrhagia, Polycystic ovaries ORPHA:90970
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Cowden Syndrome 1
Hypothyroidism, Varicocele, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, Goiter... OMIM:158350
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, ... ORPHA:3130
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Goiter OMIM:617175
48,Xxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes me... ORPHA:96263
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Patent ductus arte... ORPHA:251066
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Spastic Ataxia 9, Autosomal Recessive
Premature ovarian insufficiency OMIM:618438
Bloom Syndrome
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
49,Xxxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes me... ORPHA:96264
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Delayed puberty, Oligomenorrhea ORPHA:370
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst ORPHA:400
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Azoospermi... ORPHA:300298
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Irregular menstruation, Oligomenorrhea, Dysmenorrhea ORPHA:79240
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Delayed puberty, Oligomenorrhea ORPHA:264580
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuff... OMIM:603896
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas OMIM:175200
Dystonia 31
Abnormal posturing OMIM:619565
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Increased circulating gonado... OMIM:615300
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Senior-Loken Syndrome
Premature ovarian insufficiency ORPHA:3156
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency ORPHA:2928
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Dysmenorrhea, Decreased adiponectin level, Secondary amenorrhea, Diabetes mel... ORPHA:280365
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Fanconi Anemia, Complementation Group A
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227650
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Nodular goiter, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
H Syndrome
Amenorrhea, Azoospermia, Micropenis, Diabetes mellitus, Delayed puberty, Hypogonadism, Decreased ... ORPHA:168569
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Alpha-Heavy Chain Disease
Premature ovarian insufficiency ORPHA:100025
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Polycystic ovaries, Hyperinsulinemia, Labial hypertrophy, Insulin... OMIM:269700
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes ... OMIM:608594
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone... ORPHA:273
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Galactosemia
Decreased fertility, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Decreased serum in... ORPHA:352
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:179494
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Renal cyst, Cryptorchidism, Ovarian cyst, Multicystic kidney dysplasia, Ap... OMIM:614527
Fanconi Anemia, Complementation Group E
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:600901
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Mitochondrial hypertrophy OMIM:619518
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus ORPHA:79086
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Increased circulating ACTH level, Small scrotum, Chordee, Polycystic ovaries, Cryptorchidism, Mic... OMIM:201750
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts ORPHA:2869
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:2298
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Polycystic ovaries, Insulin-resistant diabetes mellitus, Labial pseudohypertrop... OMIM:151660
Rin2 Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism ORPHA:217335
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Abnormality of the thyroid gland, Diabetes mellitus, Hypogonadism OMIM:609286
Bloom Syndrome
Azoospermia, Oligospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:79237
Fanconi Anemia, Complementation Group C
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227645
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Histiocytosis-Lymphadenopathy Plus Syndrome
Patent ductus arteriosus, Azoospermia, Micropenis, Pancreatic hypoplasia, Decreased response to g... OMIM:602782
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation da... OMIM:278800
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Long philtrum, Persistent pupillary membrane, Delayed eruption of teeth,... OMIM:257850
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Polycystic ovaries, Menorrhagia, Thyroiditis, Delayed pub... ORPHA:79259
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Chordee, Miscarriage, Bilateral cryptorchidism, Premature ovarian insufficiency, ... ORPHA:96179
Rutherfurd Syndrome
Opacification of the corneal stroma, Failure of eruption of permanent teeth, Delayed eruption of ... OMIM:180900
Orofaciodigital Syndrome I
Myelomeningocele, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Cryptorchidism, Micropenis, Deficient excision of UV-induced pyrimidine... OMIM:227646
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss, Abnormality of the tongue ORPHA:216866
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Diabetes mellitus, Nephrogenic diabetes in... OMIM:209900
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Fanconi Anemia
Absent testis, Abnormality of the hypothalamus-pituitary axis, Patent ductus arteriosus, Cryptorc... ORPHA:84
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency OMIM:619699
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis, Diabetes mellitus, Hypoplasia of the thymus, Delay... OMIM:208900
Fragile X Tremor/Ataxia Syndrome
Premature ovarian insufficiency, Hypothyroidism, Impotence OMIM:300623
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Micrognathia OMIM:614857
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Vici Syndrome
Developmental cataract, Cleft upper lip, Micrognathia, Failure to thrive, Ocular albinism, Cleft ... OMIM:242840
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Patent ductus arteriosus, Parathyroid agenesis, Abnormality of th... OMIM:188400
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... OMIM:241080
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Abnormality of the thyroid gland, Abnormality of the... ORPHA:201
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Opitz Gbbb Syndrome
Patent ductus arteriosus, Cryptorchidism, Shawl scrotum, Enlarged ovaries, Thyroglossal cyst, Bif... ORPHA:2745
Williams Syndrome
Cholelithiasis, Hypogonadotropic hypogonadism, Hypothyroidism, Polycystic ovaries, Patent ductus ... ORPHA:904
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Drooling, Abnormal posturing ORPHA:225147
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Cholelithiasis, Delayed puberty ORPHA:2072
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Dentinogenesi... OMIM:229200
Leopard Syndrome 1
Cryptorchidism, Micropenis, Aplasia of the ovary, Delayed menarche, Delayed puberty, Hypospadias,... OMIM:151100
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone le... ORPHA:534
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Progeroid Short Stature With Pigmented Nevi
Chordee, Diabetes mellitus, Premature ovarian insufficiency, Delayed puberty, Hypospadias OMIM:176690
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Precocious puberty in females, Primary hyp... ORPHA:64
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Increased circulating renin level, Long penis, Labial h... ORPHA:508
Limb-Mammary Syndrome
Aplasia of the uterus, Primary amenorrhea, Absent nipple, Aplasia of the ovary, Hypoplastic nippl... ORPHA:69085
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Proteus Syndrome
Renal cyst, Diabetes insipidus, Testicular neoplasm, Long penis, Ovarian neoplasm, Enlarged polyc... ORPHA:744
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Noonan Syndrome 1
Patent ductus arteriosus, Cryptorchidism, Male infertility, Hypospadias, Hypogonadism OMIM:163950
Bosma Arhinia Microphthalmia Syndrome
High palate, Hypogonadotropic hypogonadism, Primary amenorrhea, Paranasal sinus hypoplasia, Catar... OMIM:603457
Turner Syndrome
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:881
Monosomy X
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99226
Mosaic Monosomy X
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99413
Cystinosis, Nephropathic
Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mellitus, Delayed puberty OMIM:219800
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Cystic Fibrosis
Male infertility OMIM:219700
Pmm2-Cdg
Hypogonadotropic hypogonadism, Hyperinsulinemia, Decreased testicular size, Elevated circulating ... ORPHA:79318

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Bone marrow - hypoplasia Zc3hc1tm1a(KOMP)Wtsi HOM Early adult
Testes - process of degenerative change Zc3hc1tm1a(KOMP)Wtsi HOM Early adult
Ovary - hypoplasia Zc3hc1tm1a(KOMP)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zc3hc1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)