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Gene: Slitrk2 MGI:2679449

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Gene Summary

Name:
SLIT and NTRK-like family, member 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Slitrk2em1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Slitrk2em1(IMPC)Mbp HEM Early adult 7.09×10-08
increased exploration in new environment Slitrk2em1(IMPC)Mbp HEM Early adult 1.85×10-10
enlarged uterus Slitrk2em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Slitrk2em1(IMPC)Mbp HOM Early adult 0.00
increased exploration in new environment Slitrk2em1(IMPC)Mbp HOM Early adult 0.00
enlarged ovary Slitrk2em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Slitrk2em1(IMPC)Mbp HEM Early adult 3.31×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Slitrk2 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 Slitrk2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107

The table below shows human diseases predicted to be associated to Slitrk2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Cervical Cancer
Cervix cancer OMIM:603956
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spinocerebellar Ataxia 27A
Abnormal vestibulo-ocular reflex, Limb ataxia, Depression, Gait ataxia, Impaired vibratory sensat... OMIM:193003
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Impaired distal proprioception, Positive Romberg sign, Dysesthe... OMIM:608984
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Truncal ataxia, Vertigo, Intenti... OMIM:183086
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Ethanolaminosis
Cardiomegaly OMIM:227150
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Memory impairment, Resting tremor, Dysdiadochokinesis, Gait ata... ORPHA:247234
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Gait ataxia,... ORPHA:504476
Friedreich Ataxia
Limb ataxia, Impaired proprioception, Chorea, Impaired visually enhanced vestibulo-ocular reflex,... ORPHA:95
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Hearing abnormality, Impaired pain sensation, Positive Romberg sign, Gait ataxia, At... OMIM:614575
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Usher Syndrome
Depression, Sensorineural hearing impairment, Abnormal vestibular function, Cognitive impairment,... ORPHA:886
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Schizophrenia 15
Hyperactivity OMIM:613950
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Hartnup Disorder
Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Hyperactivity OMIM:234500
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Hearing impairment, Delirium, Pseudobulbar p... ORPHA:208441
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ... OMIM:612310
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Ataxia, Aggressive behavior OMIM:620270
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Hyperactivity, Chorea, Depression, Gait ataxia, Dyst... ORPHA:248111
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology ORPHA:145
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Ataxia, Mental deterioration OMIM:615924
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Lennox-Gastaut Syndrome
Irritability, Hyperactivity, Vertigo, Mental deterioration, Aggressive behavior ORPHA:2382
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Cognitive impairment, Increased circulating gonadotro... OMIM:615300
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary ORPHA:314478
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Landau-Kleffner Syndrome
Aggressive behavior, Memory impairment, Hyperactivity, Depression, Emotional lability, Short atte... ORPHA:98818
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Short attention span, Shawl scrotum, Enlarged ovar... ORPHA:2745
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Graves Disease
Irritability, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperac... OMIM:275000
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Hearing impairment, Low-set, posteriorly rotated ears, Cognitiv... ORPHA:1620
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatomegaly ORPHA:79084
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Precocious puberty, Increased pineal volume, Enlarged ovaries ORPHA:769
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Ab... ORPHA:3077
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Perrault Syndrome 2
Streak ovary OMIM:614926
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ... OMIM:619927
Caudal Duplication
Uterus didelphys, Abnormal penis morphology, Cryptorchidism ORPHA:1756
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Hereditary Central Diabetes Insipidus
Polydipsia, Irritability, Diabetes insipidus ORPHA:30925
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog... ORPHA:309246
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Whim Syndrome 1
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia OMIM:193670
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Hyperactivity, Progressive hearing impairment, Cognitive impai... ORPHA:43
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hyperactivity... ORPHA:209905
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Long penis, Labial hypertrophy, Overgrowth o... ORPHA:508
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Progressive Supranuclear Palsy
Irritability, Memory impairment, Depression, Emotional lability, Vertigo, Tremor, Blepharospasm, ... ORPHA:683
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating follicle stimulating hormone level, E... OMIM:619834
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Normosmic Congenital Hypogonadotropic Hypogonadism
Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov... ORPHA:432
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Pigmented Nodular Adrenocortical Disease, Primary, 2
Depression, Emotional lability, Ovarian cyst, Mental deterioration OMIM:610475
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Progressive psychomotor deterioration, Hyperactivity, Tremor, Limb dystonia, Ga... ORPHA:363400
Premature Ovarian Failure 8
Streak ovary, Ovarian neoplasm, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:615723
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Chorea, Impaired pain sensation, Impulsivity, Gait ataxia, Dystonia, Dysphagia, Ag... ORPHA:500180
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Decreased testicular size, Elevated circulating follicle st... OMIM:612885
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Central Diabetes Insipidus
Polydipsia, Depression, Anorexia, Diabetes insipidus ORPHA:178029
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Short attention span, Elevated circulating growt... OMIM:608747
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Recurrent otitis media, Hyperactivity, Depression, Recurr... ORPHA:449291
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia ORPHA:411515
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology, Cognitive impairment ORPHA:100
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... OMIM:615516
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Glomus jugular tumo... OMIM:168000
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Cognitive impairment, A... ORPHA:201
Premature Ovarian Failure 21
Streak ovary, Elevated circulating follicle stimulating hormone level, Precocious puberty in females OMIM:620311
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysm... OMIM:618718
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Emotional lability, Chorea, Dysdiadochokinesis, Short attention span, Impulsivity,... OMIM:610217
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis OMIM:618841
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Dementia, Small scrotum, Cryptorchidism, Hypoplasia of t... OMIM:119500
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Paraganglioma, Pulsatile tinnitus, ... OMIM:605373
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Polycystic ovaries, Macroorchidism ORPHA:284180
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79085
Omodysplasia 2
Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis OMIM:164745
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... OMIM:620242
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Increased circulating T4 concentration, Increased circulating free T3, ... ORPHA:525731
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Infantile Neuroaxonal Dystrophy
Hyperactivity, Emotional lability, Short attention span, Impulsivity, Choking episodes, Dystonia,... ORPHA:35069
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina OMIM:146255
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic ... OMIM:252920
Ehlers-Danlos Syndrome, Classic-Like, 1
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment OMIM:238700
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Prune Belly Syndrome
Urogenital sinus anomaly, Cognitive impairment, Decreased testicular size, Abnormality of the ute... ORPHA:2970
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Right ventricular hypertrophy, Left ventricu... ORPHA:335
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Abnormal fear-induced behavior, Depression, Confusion, Hearing impairment, Delirium, R... ORPHA:100924
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Motor stereotypy, Attention deficit hy... OMIM:610042
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... ORPHA:85327
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Familial Cold Urticaria
Polydipsia, Sensorineural hearing impairment, Dysesthesia ORPHA:47045
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... ORPHA:403
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:435651
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
East Syndrome
Polydipsia, Sensorineural hearing impairment, Increased circulating renin level, Action tremor, A... ORPHA:199343
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
X-Linked Cerebral Adrenoleukodystrophy
Memory impairment, Hyperactivity, Confusion, Short attention span, Hearing impairment, Primary ad... ORPHA:139396
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Increased circulating gonadotropin level, S... ORPHA:243
Neuroblastoma
Irritability, Ataxia, Elevated circulating catecholamine level ORPHA:635
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly ORPHA:435660
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Citrullinemia Type Ii
Irritability, Memory impairment, Hyperactivity, Confusion, Tremor, Delayed menarche, Delirium, Re... ORPHA:247585
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity... OMIM:617600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the... ORPHA:90795
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis OMIM:140000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Bicornuate uterus, Hydrocele testis OMIM:145420
Duplication Of Urethra
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... ORPHA:237
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermia, Urogenital sin... ORPHA:1772
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Tremor, Recurrent hand flapping, Short attention span, Inappropr... ORPHA:98794
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Hepatomegaly, Precocious puberty in females, Overgrowth of external genital... ORPHA:528
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... ORPHA:3464
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability, Diabetes insipidus OMIM:304800
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability, Nephrogenic diabetes insipidus OMIM:125800
Preeclampsia
Polycystic ovaries ORPHA:275555
Panhypophysitis
Polydipsia, Central diabetes insipidus, Reduced circulating prolactin concentration, Sensorineura... ORPHA:95513
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Matthew-Wood Syndrome
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus ORPHA:2470
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
47,Xyy Syndrome
Increased serum testosterone level, Hyperactivity, Low-set ears, Impulsivity, Attention deficit h... ORPHA:8
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
X-Linked Creatine Transporter Deficiency
Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Abnormal circulating renin, Athetosis, Adrenal hyperplasia, Tinnitus, Hyperaldosteronism ORPHA:369929
Familial Hyperaldosteronism Type Iii
Polydipsia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, Ad... ORPHA:251274
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:2348
Cowden Syndrome 5
Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Sensorineural hearing impairment, Dysdiadochokinesis, Intention tremor, Increased cir... OMIM:612780
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Depression, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressi... OMIM:612716
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Cowden Syndrome 1
Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus ORPHA:958
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79083
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Hepatosplenomegaly... ORPHA:1655
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Dementia, Hyperactivity, Depression, Tremor, Blepharospasm, Phonic ti... OMIM:234200
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Wolfram Syndrome
Polydipsia, Delayed puberty, Male hypogonadism, Diabetes insipidus, Sensorineural hearing impairm... ORPHA:3463
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... ORPHA:2388
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Familial Gestational Hyperthyroidism
Agitation, Hand tremor, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goite... ORPHA:99819
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina OMIM:300707
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hand tremor, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goite... ORPHA:424
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Cognitive impairment OMIM:615994
Cystic Echinococcosis
Hepatomegaly, Ovarian cyst, Abnormality of the testis size ORPHA:400
Cystinosis
Polydipsia, Delayed puberty, Nephrogenic diabetes insipidus, Hypothyroidism, Motor stereotypy, Ty... ORPHA:213
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus ORPHA:95626
Meacham Syndrome
Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina OMIM:608978
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... ORPHA:562
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus ORPHA:140952
Currarino Syndrome
Septate vagina, Bicornuate uterus, Rectovaginal fistula OMIM:176450
Whipple Disease
Polydipsia, Anorexia, Depression, Hypothyroidism, Ataxia ORPHA:3452
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Breast hypoplasia, Small pituitary gland, Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypo... ORPHA:2232
Short Syndrome
Ovarian cyst OMIM:269880
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hypospadias, Bicornuate uterus, Papillar... ORPHA:93111
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Decreased circulating aldosterone level, Abnormali... ORPHA:320
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Nodular goiter, Premature thelarche ORPHA:371428
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancreatic atrophy, ... OMIM:137920
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Nephronophthisis 9
Polydipsia OMIM:613824
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Increased circulating ACTH level, Pituitary adenoma, Abnormal fear-induced be... OMIM:219090
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... OMIM:618419
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis ORPHA:276280
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology ORPHA:3440
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Sensorineural hearing impairment, Anterior pit... ORPHA:3157
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Left ventricular hypertrophy, Vaginal atresi... OMIM:209900
Acrorenal-Mandibular Syndrome
Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus OMIM:200980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism OMIM:618188
Pagod Syndrome
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Agonadism, A... ORPHA:991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe... ORPHA:293987
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Alg9-Cdg
Irritability, Enlarged kidney, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic nipples, Bicorn... ORPHA:79328
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Gitelman Syndrome
Polydipsia, Delayed puberty, Vertigo, Increased circulating renin level, Ataxia, Salt craving, Pa... OMIM:263800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:79240
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hepatomegaly ORPHA:79086
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, Endometriosis ORPHA:363444
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid hyperplasia OMIM:617994
Limb-Mammary Syndrome
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... ORPHA:69085
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens ORPHA:411709
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder OMIM:617925
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Increased circulating pr... ORPHA:1359
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Splenopancreatic f... OMIM:269150
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... OMIM:263650
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus, Cryptorchidism ORPHA:3138
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:264580
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A... ORPHA:99776
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis OMIM:614083
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ... ORPHA:249
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Ochoa Syndrome
Polydipsia ORPHA:2704
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Vertigo, Pancreatic islet cell adenoma, End... ORPHA:892
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Anterior hypopituitarism, Panhypopituitarism, Hyperpituitar... ORPHA:91351
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatomegaly, Polycystic ovaries OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Hepatomegaly, Splenomegaly ORPHA:280365
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnormal testis morph... ORPHA:84
Teratoma, Pineal
Polydipsia OMIM:273120
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Ulnar-Mammary Syndrome
Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate hymen, Bicornu... OMIM:181450
Hyperparathyroidism, Neonatal Severe
Polydipsia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism OMIM:239200
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Abnormal emotion, Distal sensory impairment, Nail-biting, Impaired t... ORPHA:642
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... OMIM:229850
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Nephrogenic diabetes insipidus ORPHA:223
Microsporidiosis
Abnormality of the parathyroid gland, Abnormal endometrium morphology, Prostatitis, Abnormal fall... ORPHA:2552
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:608594
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Precocious ... OMIM:270400
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Fraser Syndrome
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... ORPHA:2052
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hepatomegaly, Splenomegaly, Polycystic ovaries, Labial hypertrophy OMIM:269700
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Gitelman Syndrome
Polydipsia, Delayed puberty, Maternal diabetes, Vertigo, Graves disease, Hashimoto thyroiditis, P... ORPHA:358
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Polydipsia, Agitation, Aggressive behavior ORPHA:84081
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis OMIM:219000
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Norrie Disease
Attention deficit hyperactivity disorder, Irritability, Uterine rupture, Cryptorchidism ORPHA:649
Histiocytoid Cardiomyopathy
Cardiomegaly, Polycystic ovaries, Hepatomegaly ORPHA:137675
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Cognitive impairment, Polycystic ovaries, Hepatomegaly, Enlarged kidney ORPHA:79259
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Infantile Nephropathic Cystinosis
Polydipsia, Abnormality of thyroid physiology, Cognitive impairment ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Elevated circulating parathyroid hormone level, Thyroid carcinoma, Primary hyperparat... ORPHA:99880
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Nephronophthisis 4
Polydipsia OMIM:606966
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Elevated circulating parathyroid hormone level, Thyroid carcin... ORPHA:143
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Erdheim-Chester Disease
Polydipsia, Ataxia, Hypogonadotropic hypogonadism, Diabetes insipidus ORPHA:35687
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy OMIM:265380
Hermansky-Pudlak Syndrome 6
Perineal fistula, Endometriosis OMIM:614075
Nephronophthisis 1
Polydipsia OMIM:256100
Helix Syndrome
Polydipsia, Hyperparathyroidism OMIM:617671
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly OMIM:274000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism ORPHA:93271
Oligomeganephronia
Polydipsia, Hearing impairment ORPHA:2260
Nephronophthisis 11
Polydipsia OMIM:613550
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Low frustration tol... OMIM:619503
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Abnormal salivary gland morphology, Cryptorchidism, Bicornuate uterus ORPHA:2363
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Splenomegaly, Att... OMIM:188400
Renal Hypoplasia
Polydipsia ORPHA:93101
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Sensorineural hearing impairment, Hyperaldosteronism OMIM:602522
Turner Syndrome Due To Structural X Chromosome Anomalies
Depression, Abnormality of the ovary, Attention deficit hyperactivity disorder, Increased circula... ORPHA:99413
Turner Syndrome
Depression, Abnormality of the ovary, Attention deficit hyperactivity disorder, Increased circula... ORPHA:881
Mosaic Monosomy X
Depression, Abnormality of the ovary, Attention deficit hyperactivity disorder, Increased circula... ORPHA:99228
Monosomy X
Depression, Abnormality of the ovary, Attention deficit hyperactivity disorder, Increased circula... ORPHA:99226
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Bile duct proliferation, Abnormality of t... OMIM:249000
Nephronophthisis 3
Polydipsia OMIM:604387
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Cognitive impairment, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Hypoplasia of the thymus, Splenomega... ORPHA:567
Peters Plus Syndrome
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Dysphagia, Progressive ne... OMIM:219800
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... OMIM:261540
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Hyperactive renin-angiotensin system, Increased circulating renin level, Macrotia, Hy... OMIM:241200
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:194190
Distal Renal Tubular Acidosis
Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Bicornuate uterus, Cryptorc... OMIM:268300
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus, Attention defic... ORPHA:199
Pallister-Hall Syndrome
Hydrometrocolpos, Hypospadias, Aplasia/Hypoplasia of the vagina, Pituitary hypothyroidism, Panhyp... ORPHA:672
Williams Syndrome
Cholelithiasis, Hypoplasia of penis, Depression, Precocious puberty, Attention deficit hyperactiv... ORPHA:904
Townes-Brocks Syndrome
Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum... ORPHA:857
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Low-set ears, Cognitive impairment ORPHA:731
Juvenile Nephropathic Cystinosis
Polydipsia, Hypothyroidism ORPHA:411634
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse ORPHA:287
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Uterine prolapse, Abnormality of the anterior pituitary, Increased circulatin... ORPHA:438213
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Hypomagnesemia 3, Renal
Polydipsia, Elevated circulating parathyroid hormone level OMIM:248250
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Left ventricular hypertrophy ORPHA:284984
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse, Left ventricular hypertrophy OMIM:613795
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Alström Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Precocious puberty in female... ORPHA:64

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 Slitrk2

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 Slitrk2.

No publications found that use IMPC mice or data for Slitrk2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slitrk2em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Slitrk2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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