Gene Summary

Name:
bromodomain, testis-specific
Synonyms:
Fsrg3,  7420412D09Rik,  Brd6

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
increased lumbar vertebrae number Brdttm1a(EUCOMM)Wtsi HOM Early adult 5.18×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 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 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 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 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 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 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)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (3 of 443)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyer's patch 0.76% (1 of 132)
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle tissue 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 98 images

View all 6 images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Cervical Rib
Cervical ribs OMIM:117900
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... ORPHA:163976
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... ORPHA:163971
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... OMIM:300869
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Young Syndrome
Azoospermia OMIM:279000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia OMIM:615703
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoinsulinemia, Decreased serum testosterone concentration, Hypogonad... ORPHA:453533
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Hemochromatosis, Type 2A
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia OMIM:602390
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... ORPHA:2232
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... OMIM:146110
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Precocious puberty OMIM:604931
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY ka... OMIM:264300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95512
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... ORPHA:280679
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased male libido, Decreased s... ORPHA:95513
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 40
Azoospermia, Patent ductus arteriosus, Infertility, Absent outer dynein arms OMIM:618300
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism OMIM:201100
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus ORPHA:1445
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Breas... ORPHA:3044
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... OMIM:300845
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... OMIM:618723
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... ORPHA:361
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... ORPHA:2959
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... OMIM:400044
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... OMIM:616185
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... ORPHA:300298
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea OMIM:612847
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... ORPHA:91354
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96263
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Primary amenorrhea, Adrenal hyperplasia, Ambiguous genitalia, Adrenog... OMIM:202110
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Decreased testicular size, Hypogonad... ORPHA:96264
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty ORPHA:90646
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Secondary... ORPHA:243
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Congenital hypothyroidism OMIM:614736
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Elevated circulating growth hormone conce... ORPHA:562
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty ORPHA:759
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... ORPHA:90790
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Supernumerary ribs OMIM:619122
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Block vertebrae, Vertebral fusion OMIM:271520
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Temple Syndrome
Cryptorchidism, Precocious puberty, Decreased response to growth hormone stimulation test, Type I... ORPHA:254516
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous genitalia OMIM:250790
Steinert Myotonic Dystrophy
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... ORPHA:273
Pituitary Gigantism
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... ORPHA:99725
H Syndrome
Amenorrhea, Micropenis, Decreased testicular size, Hypogonadism, Delayed puberty, Azoospermia, Di... ORPHA:168569
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pi... ORPHA:398079
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Precocious puberty, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Hypospadias, Absence of labia majora, Absent scrotum,... ORPHA:495875
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Long penis, Clitoral hypertrophy, In... OMIM:262190
Robinow Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Cryptorchidism, Micropen... ORPHA:97360
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism ORPHA:280195
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty ORPHA:254531
Gapo Syndrome
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism ORPHA:2067
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Bloom Syndrome
Azoospermia, Cryptorchidism, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Ollier Disease
Precocious puberty ORPHA:296
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Prader-Willi Syndrome
Infertility, Precocious puberty, External genital hypoplasia, Small pituitary gland, Decreased re... ORPHA:739
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... OMIM:602782
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Congenital Generalized Lipodystrophy
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Clitoral hypertrophy... ORPHA:528
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Precocious puberty, Diabetic ketoacidosis, Long penis, Hypoth... ORPHA:769
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Supernumerary ribs OMIM:193500
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty ORPHA:96184
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty OMIM:300958
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Precocious puberty, Type II diabetes mellitus, External genital hypoplasia, Small pi... ORPHA:398069
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Bloom Syndrome
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency ORPHA:125
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic... ORPHA:2298
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy, Pancreatic ... OMIM:246200
Fanconi Anemia
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... ORPHA:84
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Abnormality of male external genitalia, Hypospadi... ORPHA:813
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Precocious puberty, Type II diabetes mellitus, External genit... OMIM:176270
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... ORPHA:227
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty ORPHA:447980
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Metrorrhagia, N... ORPHA:370348
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hypospadias, Cryptorchidism, Precocious puberty ORPHA:254346
Myhre Syndrome
Precocious puberty, External genital hypoplasia, Abnormal penis morphology, Hypospadias, Hypogona... ORPHA:2588
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia ORPHA:324313
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Azoospe... ORPHA:534
Carpenter Syndrome 1
Cryptorchidism, Precocious puberty, Patent ductus arteriosus, External genital hypoplasia OMIM:201000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Azoospermia, Delayed puberty ORPHA:2072
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Precocious puberty, Micropenis ORPHA:96092
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... OMIM:137920
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Patent duct... ORPHA:96191
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Delayed puberty ORPHA:819
Radio-Tartaglia Syndrome
Precocious puberty OMIM:619312
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty ORPHA:261652
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Precocious puberty ORPHA:356961
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormality of female external genitalia, Precocious puberty, Patent ductus arteriosus ORPHA:2637
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Tetrasomy 9P
Infertility, Micropenis, Pachygyria, Oligospermia, Polymicrogyria, Lissencephaly, Cryptorchidism ORPHA:3310
Bainbridge-Ropers Syndrome
Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:615485
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Secondary amenorrhe... ORPHA:99889
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Decreased response to growth hormone stimulation test, Hypospadias, Cryptorch... ORPHA:96182
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Cervical ribs, Scoliosis, Six lumbar vertebrae OMIM:312870
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Type II diabetes mellitus OMIM:210720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus OMIM:619269
Tuberous Sclerosis 1
Adenoma sebaceum, Precocious puberty, Hypothyroidism OMIM:191100
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Type II diabetes mellitus, Decreased response to growth hormo... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hypospadias, Hypoplasia of the thymus, Long penis, Cryptorchi... OMIM:264090
Alexander Disease
Hypothyroidism, Precocious puberty, Diabetes mellitus ORPHA:58
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus ORPHA:369837
Tuberous Sclerosis 2
Adenoma sebaceum, Precocious puberty, Hypothyroidism OMIM:613254
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Kabuki Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Hypoplasia of penis ORPHA:2322
Noonan Syndrome 1
Hypospadias, Male infertility, Patent ductus arteriosus, Hypogonadism, Cryptorchidism OMIM:163950
Tay-Sachs Disease
Precocious puberty ORPHA:845
Non-Specific Syndromic Intellectual Disability
Cryptorchidism, Precocious puberty, Small scrotum ORPHA:528084
Hypophosphatemic Rickets
Precocious puberty, Hyperthyroidism, Elevated circulating parathyroid hormone level, Hyperparathy... ORPHA:437
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Precocious puberty OMIM:301066
Cystinosis, Nephropathic
Male infertility, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus OMIM:219800
Pallister-Hall Syndrome
Central adrenal insufficiency, Ambiguous genitalia, Thyroid hypoplasia, Small scrotum, Precocious... ORPHA:672
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Smith-Lemli-Opitz Syndrome
Precocious puberty, Bicornuate uterus, Micropenis, Bifid scrotum, Hypospadias, Septate vagina, Am... OMIM:270400
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Cystic Fibrosis
Male infertility OMIM:219700
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Hypospadias, Testicula... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hypospadias, Testicula... ORPHA:363958
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Pheochromocytoma, Delayed puberty, Crypt... ORPHA:636
Aicardi Syndrome
Precocious puberty OMIM:304050
Alström Syndrome
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... ORPHA:64
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Floating-Harbor Syndrome
Precocious puberty, Hypospadias, Varicocele, Congenital posterior urethral valve, Cryptorchidism,... ORPHA:2044
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Increased circulating ... ORPHA:438213
Williams Syndrome
Cholelithiasis, Precocious puberty, Type II diabetes mellitus, Hypoplasia of penis, Functional ab... ORPHA:904
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty OMIM:194190
Sponastrime Dysplasia
Hypothyroidism, Hypospadias, Precocious puberty ORPHA:93357
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Precocious puberty, Elevated circulating parathyroid hormone level, Pheochr... ORPHA:97685

Histopathology

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

There is no histopathology data for Brdt

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 Brdt.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Brdttm1a(EUCOMM)Wtsi