Gene Summary

Name:
BRCA1 interacting protein C-terminal helicase 1
Synonyms:
8030460J03Rik,  BACH1,  3110009N10Rik

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
decreased grip strength Brip1em1(IMPC)J HOM Late adult 8.88×10-05
hyperactivity Brip1em1(IMPC)J HOM Late adult 2.31×10-05
cataract Brip1em1(IMPC)J HOM Early adult 2.24×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Brip1 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 Brip1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Brip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aniridia 3
Cataract OMIM:617142
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Trichomegaly
Cataract OMIM:190330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Cataract 7
Developmental cataract OMIM:115660
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Galactosemia Iv
Cataract OMIM:618881
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
N Syndrome
Hypospadias, Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism OMIM:310465
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Aniridia 2
Aniridia, Cataract OMIM:617141
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Amenorrhea, Hypogonadotr... OMIM:235200
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Cataract 43
Subcapsular cataract OMIM:616279
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... OMIM:619585
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Cataract 47
Microcornea, Cataract OMIM:612018
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Po... ORPHA:280356
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Ataxia-Telangiectasia
Type II diabetes mellitus, Abnormality of chromosome stability, Polycystic ovaries, Neoplasm, Abn... ORPHA:100
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Bloom Syndrome
Chromosome breakage, Decreased fertility in females, Type II diabetes mellitus, Abnormality of ch... OMIM:210900
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 42
Developmental cataract OMIM:115900
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Galactosemia Ii
Cataract OMIM:230200
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the breast, Goiter, Abnormality of the menstrual cycle, Po... ORPHA:457059
Dermoids Of Cornea
Corneal opacity OMIM:304730
X-Linked Retinoschisis
Cataract ORPHA:792
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Hepatic steatosis OMIM:615703
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Cuta... ORPHA:562
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hypergonadotropic ... OMIM:268020
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Cowden Syndrome 1
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Ovarian cyst, Thyroid ... OMIM:158350
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrh... OMIM:604367
Cowden Syndrome 6
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... OMIM:615109
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Preeclampsia
Elevated hepatic transaminase, Polycystic ovaries, Abnormality of the hepatic vasculature, Type I... ORPHA:275555
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clit... ORPHA:528
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian neoplasm, Breast carcinoma OMIM:617883
Carney Complex
Oligospermia, Thyroid carcinoma, Gonadal neoplasm, Sertoli cell neoplasm, Neoplasm of the pharynx... ORPHA:1359
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Polyembryoma
Macroorchidism, Increased serum testosterone level, Gonadal neoplasm, Increased serum serotonin, ... ORPHA:180229
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatocellular carcinoma, Portal fibrosis, Hepatic fi... ORPHA:370
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Cowden Syndrome 5
Meningioma, Transitional cell carcinoma of the bladder, Goiter, Ovarian cyst, Thyroid adenoma, Br... OMIM:615108
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
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Lig4 Syndrome
Hepatomegaly, Type II diabetes mellitus, Abnormality of chromosome stability, Acute leukemia, Lym... ORPHA:99812
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, Hepatic failure OMIM:617872
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Ovarian... ORPHA:400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227650
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Oligomenorrhea, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries... ORPHA:264580
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Peutz-Jeghers Syndrome
Biliary tract abnormality, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ovarian cyst, Br... OMIM:175200
Donohue Syndrome
Hepatic fibrosis, Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Cholestasi... OMIM:246200
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
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
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
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphoproliferative disorder, Splenomeg... OMIM:609981
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Nathalie Syndrome
Cataract OMIM:255990
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
47,Xyy Syndrome
Oligospermia, Macroorchidism, Hypospadias, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:600901
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Peutz-Jeghers Syndrome
Neoplasm of the lung, Neoplasm of the rectum, Stomach cancer, Neoplasm of the nose, Cervix cancer... ORPHA:2869
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatocellular carcinoma, Hepatic fibrosis, Polycysti... ORPHA:79240
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Partington Syndrome
Macroorchidism ORPHA:94083
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture ORPHA:335
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Per... ORPHA:314478
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Cataract 11, Multiple Types
Cataract OMIM:610623
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Diethylstilbestrol Syndrome
Testicular dysgenesis, Hypospadias, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... OMIM:227645
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Retinitis Pigmentosa 84
Cataract OMIM:618220
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... OMIM:301045
Acquired Generalized Lipodystrophy
Hepatomegaly, Astrocytoma, Insulin-resistant diabetes mellitus, Polycystic ovaries, Lymphoma, Cir... ORPHA:79086
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Elevated hepatic transaminase, ... OMIM:615381
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fanconi Anemia, Complementation Group G
Leukemia, Myelodysplasia, Abnormality of chromosome stability OMIM:614082
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Hepatic ste... ORPHA:91
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability, Neoplasm OMIM:215510
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Polycysti... ORPHA:90301
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fanconi Anemia, Complementation Group D2
Annular pancreas, Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Patent duc... OMIM:227646
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Neoplasm, Decreased s... ORPHA:2959
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Neoplasm of the breast, Incre... ORPHA:249
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Steinert Myotonic Dystrophy
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Endometrial carcinoma,... ORPHA:273
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Carcinoma, Laryngeal carcinoma, External genital hypoplasia, Clitoral hypertrophy, A... OMIM:610644
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Proteus-Like Syndrome
Thymus hyperplasia, Hemangioma, Polycystic ovaries, Exostoses, Splenomegaly, Abnormality of the p... ORPHA:2969
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Cataract 24
Anterior polar cataract OMIM:601202
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:280365
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Peritonitis, Basal cell carcinoma, ... ORPHA:314473
Fanconi Anemia, Complementation Group L
Chromosome breakage, Micropenis, Abnormality of chromosome stability OMIM:614083
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus, Hypogonadism, Micropenis, Hypergon... OMIM:300514
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Cryptorchidism, Decreased testicular size OMIM:610198
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Oligomenorrhea, Diabetes mellitus OMIM:613877
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Hepatic steatosis, Decreased liver function ORPHA:70472
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Hepatomegaly, Splenomegaly, Azoospermia OMIM:615234
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... ORPHA:90790
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Pellagra-Like Syndrome
Cataract OMIM:260650
Bloom Syndrome
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Malignant genitourinary tract t... ORPHA:125
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by crosslinking agents, Acute ... OMIM:605724
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Chromosomal brea... OMIM:603467
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Nephroblastoma, Hydrocele testis, Multiple lipomas ORPHA:276280
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the pancreas, Abnormality of ... ORPHA:543
Meningioma
Neoplasm of the skin, Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:2495
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Hypogonadism, Abnormal testis morphology, Primary testicular failure,... ORPHA:85450
Fanconi Anemia
Hypospadias, Myelodysplasia, Abnormality of chromosome stability, Azoospermia, Abnormal preputium... ORPHA:84
Cowden Syndrome
Neoplasm of the skin, Meningioma, Goiter, Endometrial carcinoma, Papilloma, Conjunctival hamartom... ORPHA:201
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Hypothalamic hamartoma, Hepatic cysts, Poly... OMIM:311200
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Neoplasm of the skin, Defective DNA repair after ultraviolet radiation damage OMIM:194400
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hemangioma, Hypogonadism ORPHA:2067
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis, Diabetes mellitus, Impotence OMIM:606069
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neoplasm of the lung, Myelodysplasia, Multiple myeloma, Hepatocellu... ORPHA:158057
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... ORPHA:145
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glycogen content, Polycyst... ORPHA:79259
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Renal cyst, ... OMIM:614527
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Polycystic ovaries, Aplasia/Hypoplasia of the thymus ORPHA:2176
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Abnormal thyroid morphology, Elevated h... ORPHA:139507
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... OMIM:151660
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Renal cyst, Hepatic steatosis, Hy... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Melanoma OMIM:278800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cirrhosis, Macrovesicular hepatic steatosis, Hypergonadotropic hyp... ORPHA:298
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:610717
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Defective DNA repair after ultraviolet radiation damage, Seborrheic keratosis OMIM:278760
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Congenital Varicella Syndrome
Cataract ORPHA:291
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Multinodular goiter, Insulin-resistan... OMIM:203800
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma... ORPHA:902
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 6
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Streak ovary, Fema... OMIM:612310
19P13.12 Microdeletion Syndrome
Hypospadias, Hepatic steatosis, Hypothyroidism, Cryptorchidism, Precocious puberty ORPHA:254346
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
Porokeratosis 1, Multiple Types
Neoplasm of the skin, Abnormality of chromosome stability OMIM:175800
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Leukemia, Abnormality of the thymus, Abnormality of chromosome stability OMIM:208910
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Morm Syndrome
Hyperactivity ORPHA:75858
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Neuroendocrine neoplasm, Abnormal response to corticotropin rel... ORPHA:189427
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, External genital hypoplasia, Hepatic steatosis, Hepatosplenomegal... ORPHA:79322
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Neoplasm of the lung, Neoplasm of the central nervous system, Neo... ORPHA:83469
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Neuroblastoma, Nephroblastoma, Medulloblastoma OMIM:610832
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Bifid scrotum, Chordee, Vesicovaginal fistula, Labial hypoplasia, Polycystic ovaries... OMIM:201750
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Acute hepatitis, Splenomegaly, Cirrh... ORPHA:905
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Re... ORPHA:93111
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Retinitis Pigmentosa 2
Cataract OMIM:312600
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Cahmr Syndrome
Lamellar cataract OMIM:211770
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula... OMIM:609053
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Cimdag Syndrome
Hypogonadism, Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes m