Gene Summary

Name:
synaptonemal complex central element protein 1
Synonyms:
4933406J07Rik

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
female infertility Syce1tm1b(KOMP)Wtsi HOM Early adult 0.00
hypoactivity Syce1tm1b(KOMP)Wtsi HOM Late adult 1.51×10-16
male infertility Syce1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased grip strength Syce1tm1b(KOMP)Wtsi HOM Late adult 9.47×10-06
limb grasping Syce1tm1b(KOMP)Wtsi HOM Early adult 5.37×10-05
increased fasting circulating glucose level Syce1tm1b(KOMP)Wtsi HOM Early adult 9.11×10-09
decreased vertical activity Syce1tm1b(KOMP)Wtsi HOM Late adult 3.26×10-05
increased urine microalbumin level Syce1tm1b(KOMP)Wtsi HOM Early adult 4.95×10-05
abnormal lens morphology Syce1tm1b(KOMP)Wtsi HOM   Late adult 1.58×10-06
improved glucose tolerance Syce1tm1b(KOMP)Wtsi HOM   Early adult 3.82×10-05
increased thigmotaxis Syce1tm1b(KOMP)Wtsi HOM Late adult 3.43×10-11

Download data as:  TSV  XLS

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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
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
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 Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
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 Not available
Skeletal muscle 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 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

9 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Adult LacZ

LacZ Images Section

5 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Syce1 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 Syce1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947

The table below shows human diseases predicted to be associated to Syce1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
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 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Young Syndrome
Azoospermia OMIM:279000
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Familial Hyperprolactinemia
Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty OMIM:300604
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... OMIM:240950
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Renal tubular dysfunction, Hyperglycemia, Glycosuria, Abnormality of the up... ORPHA:99885
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Streak ovary, Delayed puberty, Decreased ... ORPHA:243
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Premature ovarian insufficien... OMIM:230400
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Paternal Uniparental Disomy Of Chromosome X
Micropenis, Infertility, Decreased testicular size ORPHA:261524
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... ORPHA:2235
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Diabetes mellitus, Hypogonadism OMIM:614231
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... ORPHA:753
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia ORPHA:1445
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... OMIM:300845
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus OMIM:619269
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Diabetes mellitus, Membranoproliferative glomerulonephritis, Prote... OMIM:608709
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... ORPHA:2232
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Focal segmental glomerulosclerosis, Nephrotic syndrome, Intention tremor, Nephro... OMIM:254900
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidi... ORPHA:10
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Osteomesopyknosis
Infertility OMIM:166450
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cy... ORPHA:730
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency OMIM:619518
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bardet-Biedl Syndrome
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary ORPHA:110
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Ab... ORPHA:99886
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Insulin resistance ORPHA:79087
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, ... OMIM:616026
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... ORPHA:300298
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:95619
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Microscopic hematuria, Type I diabetes mellitus, Membranoproliferative glom... OMIM:619525
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Primary a... OMIM:136680
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Tremor, Type I diabetes mellitus, Nephropathy, Proteinuria ORPHA:1192
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency ORPHA:2928
8P11.2 Deletion Syndrome
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypog... ORPHA:251066
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism, Azoospermia OMIM:210900
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Type II diabetes mellitus, Renal insufficiency ORPHA:225
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Senior-Loken Syndrome
Premature ovarian insufficiency ORPHA:3156
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Type 1 Diabetes Mellitus
Hyperglycemia, Polyuria, Diabetes mellitus OMIM:222100
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... OMIM:603896
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... ORPHA:567544
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria, Ketonuria OMIM:618857
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... ORPHA:96263
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Fechtner syndrome
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Alpha-Heavy Chain Disease
Premature ovarian insufficiency ORPHA:100025
Preeclampsia
Acute kidney injury, Type I diabetes mellitus, Chronic kidney disease, Proteinuria, Abnormality o... ORPHA:275555
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... ORPHA:96264
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Proteinuria, Nephrotic syndrome OMIM:105200
Al Amyloidosis
Nephrotic syndrome, Renal interstitial amyloid deposits, Albuminuria, Autonomic erectile dysfunct... ORPHA:85443
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Cednik Syndrome
Hypogonadism, Proteinuria, Nephrotic syndrome ORPHA:66631
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Diabetic ket... OMIM:262190
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hype... OMIM:227650
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:617575
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Moderate albuminuria, Abnormal penis morphology, Hematuria, Dysuria, Acute kidney injury, Renal t... ORPHA:95455
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... ORPHA:263455
H Syndrome
Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Diabetes mellitus, Decreased testicular size, ... ORPHA:168569
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Proteinuria, Diabetes mellitus, Nephropathy OMIM:209010
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:603278
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Sta... ORPHA:567546
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Denys-Drash Syndrome
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:220
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, ... ORPHA:79085
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria OMIM:214100
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Hyperglycemia, Primary am... OMIM:604367
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Myh9-Related Disease
Menorrhagia, Nephritis, Nephropathy, Proteinuria, Renal insufficiency ORPHA:182050
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Renal insufficiency OMIM:245900
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Abnormal renal tubule morphology, Nephrotic syndrome ORPHA:839
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Reduced sperm motility, Maturity-onset diabetes of the young, Gluc... OMIM:137920
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Renal Hypoplasia