Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Eph receptor A1
Eph,  Esk,  5730453L17Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Epha1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Epha1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hydatidiform Mole
Menometrorrhagia, Nausea and vomiting, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina... ORPHA:65681
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias OMIM:605231
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, P... ORPHA:314478
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:612964
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Abdominal distenti... ORPHA:314473
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... ORPHA:3097
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Congenital Pancreatic Cyst
Vomiting, Abdominal distention, Pancreatitis, Anorexia, Abdominal pain ORPHA:313906
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Premature Ovarian Failure 18
Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t... OMIM:619203
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Labial hypoplasia, Blind vagina, Pr... OMIM:300068
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Cryptorchidism, Micropenis, Abnormal fallopian tube m... ORPHA:1655
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Peritoneal Cystic Mesothelioma
Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Abdominal distention, Abdominal pain, Menor... ORPHA:168816
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Cryptorchidism, Hydrometrocolpos ORPHA:2473
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Episodic abdominal pain, Decrease... ORPHA:137686
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno... OMIM:619665
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Leukocyte Adhesion Deficiency
Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis media, Lymphocytic int... ORPHA:2968
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 11
Vanishing testis, Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, G... OMIM:273250
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Septate vagina, Psoriasiform dermatitis, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hyp... OMIM:615300
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora OMIM:207410
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea, Hypoplasia of the uteru... ORPHA:247768
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Diarrhea, Malabsorption OMIM:600705
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism ORPHA:3301
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Bardet-Biedl Syndrome
Irregular menstruation, Inflammation of the large intestine, Aplasia/Hypoplasia of the vagina, Hy... ORPHA:110
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Ovarian Dysgenesis 3
Female infertility, Aplasia of the ovary, Primary amenorrhea OMIM:614324
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention, Bronchiec... OMIM:619445
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Hypogonadotropic hypogonadism, Gastrointestinal dysm... ORPHA:298
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Septate vagina ORPHA:1319
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Hydrometrocolpos OMIM:617088
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Irregular menstruation, Abdominal distention, Isosexual precocious puberty, Abdominal pain, Macro... ORPHA:180229
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Abdominal distention, Constipation OMIM:142623
Wolman Disease
Acute hepatic failure, Vomiting, Abdominal distention OMIM:620151
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Micropenis OMIM:209900
Abnormality of the ovary, Abnormal fallopian tube morphology, Periodontitis, Cervicitis ORPHA:722
Septate vagina OMIM:114150
Fixed Drug Eruption
Crusting erythematous dermatitis, Vaginal mucosal ulceration, Stomatitis ORPHA:293812
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea OMIM:146255
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Nausea and vomiting, Met... ORPHA:370348
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Ovarian ne... ORPHA:83469
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Abnormal internal... ORPHA:755
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Hepatitis, Skin rash, Feeding difficulties in infancy, Dyspareunia, C... ORPHA:1334
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Lead Poisoning
Vomiting, Abdominal distention, Decreased male libido, Abnormality of the menstrual cycle, Anorex... ORPHA:330015
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Nausea and vomiting, Ovarian cyst, Enlarged polycystic ovaries, Nausea,... ORPHA:64739
Omodysplasia 2
Gastroesophageal reflux, Uterus didelphys, Recurrent otitis media, Feeding difficulties, Cryptorc... OMIM:164745
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Acne, Primary amenorrhea OMIM:615363
Apert Syndrome
Vaginal atresia, Acne, Chronic otitis media, Cryptorchidism OMIM:101200
Currarino Syndrome
Septate vagina, Chronic constipation, Perianal abscess, Abdominal distention, Gastrointestinal ob... OMIM:176450
Interstitial Cystitis
Abnormal vagina morphology, Urinary bladder inflammation, Abnormality of the menstrual cycle, Abn... ORPHA:37202
Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Vomiting, Gastroesophageal reflux, Bilateral cryptorchidism, Recurrent otiti... OMIM:150230
Meckel Syndrome, Type 8
Ambiguous genitalia, Abdominal distention OMIM:613885
Volvulus Of Midgut
Neonatal intestinal obstruction, Constipation, Abdominal distention OMIM:193250
Caudal Duplication
Abnormal penis morphology, Uterus didelphys, Cryptorchidism ORPHA:1756
Pallister-Hall Syndrome
Precocious puberty, Small scrotum, Aplasia/Hypoplasia of the vagina, Aplasia/hypoplasia of the ut... ORPHA:672
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Gastrointestinal inflammation ORPHA:79409
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Cryptorch... ORPHA:432
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Secretory diarrhea, Abdominal distention OMIM:270420
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Decreased fertility, Cryptorchidism, Dysmenorrhea, Polycystic ovaries,... ORPHA:90796
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Episodic abdominal pain, Primary amenorrhea, Hypoplasia of the uteru... ORPHA:785
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ... ORPHA:243
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Uterine leiomyosarcoma, Uterine leiomyoma ORPHA:523
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Small Bowel Atresia
Vomiting, Feeding difficulties, Abdominal distention ORPHA:1201
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas... OMIM:110100
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Decreased liver function, Cryptorchidism, Abdominal distention OMIM:608104
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst, Abdominal distention OMIM:246200
Tetraamelia Syndrome 1
Vaginal atresia, Absent external genitalia, Hypoplasia of the fallopian tube OMIM:273395
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Chordee, Micropenis, Hypospadias, Longitudinal v... OMIM:140000
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Vomiting, Abnormality of the Leydig cells, Abnormal v... ORPHA:168558
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina, Abdominal distention OMIM:271520
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Gastroesophageal reflux, Abnorma... ORPHA:813
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Vomiting, Abnormality of the Leydig cells, Abnormal v... ORPHA:289548
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Fraser Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias OMIM:219000
Prune Belly Syndrome
Abnormality of the uterus, Decreased testicular size, Decreased fertility, Cryptorchidism, Consti... ORPHA:2970
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypoplasia of the uterus, A... OMIM:154230
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Protuberant abdomen, Abdominal distention OMIM:619879
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocolitis, Con... ORPHA:95427
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Anorexia, Abdominal pain, Endocarditis, Osteomy... ORPHA:2552
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Malabsorption, Abnormality of the female genitalia, Hypoplasia of pen... ORPHA:2315
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Protuberant abdomen ORPHA:221054
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Intestinal obstruction ORPHA:3440
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia ORPHA:3173
Spondylocostal Dysostosis 1, Autosomal Recessive
Protuberant abdomen, Abdominal distention OMIM:277300
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea ORPHA:75233
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Poor suck OMIM:619518
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Malabsorption, Punctate keratitis, Arthritis, Abdominal distention,... ORPHA:92050
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis OMIM:617577
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition OMIM:277320
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention ORPHA:226313
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain ORPHA:100924
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Eczematoid dermatitis, Recurrent aphthous stomatitis, Abdominal pain, Abdomin... OMIM:212750
Ehlers-Danlos Syndrome, Classic-Like, 1
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Malar rash, Skin rash, Myositis, Arthritis, Ab... ORPHA:93552
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... ORPHA:391673
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal vagina morphology, Acute hepatic failure, Malabsorption, Na... ORPHA:537
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Vomiting, Intestinal pseudo-obstruction, Abdominal distention OMIM:300048
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Achondrogenesis, Type Ib
Abdominal distention OMIM:600972
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis, Abdominal distention OMIM:619423
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus OMIM:300707
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Pan... OMIM:155310
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hypospadias, Cryptorchidism, Protuberant abdomen ORPHA:457485
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Nausea and vomiting, Cryptorchidism, Abdominal distention ORPHA:2241
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi... ORPHA:51890
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Malabsorption, Intestinal pseudo-obstruction, Abdominal distention ORPHA:1876
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hepatic failure, Cryptorchidism, Abdominal distention OMIM:235255
Thyroid Hemiagenesis
Hashimoto thyroiditis, Constipation, Abdominal distention ORPHA:95719
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina OMIM:608978
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Hydrocele testis, Shawl scrotum OMIM:145420
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat... ORPHA:572333
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Nausea ORPHA:521219
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... OMIM:241080
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Chand Syndrome
Imperforate hymen ORPHA:1401
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis, Abdominal distention OMIM:246400
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Vomiting, Gastroesophageal reflux, Eczematoid dermatitis, Bifi... OMIM:270400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Abnormal penis morphology, Inflammatory abnormality of the skin, Keratitis, Vaginal dr... ORPHA:95455
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Poor suck OMIM:615866
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Nasogastric tube feeding in infancy, Micropenis, Conjunctivitis, Hypospadias, Bl... OMIM:106260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Gastrostomy tube feeding in infancy ORPHA:457284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Abdominal distention, Chronic diarrhea... OMIM:620233
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Feeding difficulties, Abdominal distention OMIM:620275
X-Linked Acrogigantism
Hypogonadism, Abdominal distention ORPHA:300373
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Recurrent otitis media, Chronic sinusitis, Chronic r... ORPHA:244
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Niemann-Pick Disease, Type A
Feeding difficulties in infancy, Vomiting, Protuberant abdomen, Constipation OMIM:257200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention OMIM:256300
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Pancreatitis, Abdominal distention ORPHA:1830
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Keratitis, Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Nasogastric... ORPHA:1018
Gallbladder Neuroendocrine Tumor
Abdominal distention, Cholecystitis, Episodic abdominal pain, Anorexia, Nausea ORPHA:100086
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem... ORPHA:3464
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Uterus didelphys OMIM:617925
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Solitary Fibrous Tumor
Uterine neoplasm, Vaginal neoplasm, Prostate cancer, Constipation, Abnormal prostate morphology ORPHA:2126
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Chronic Graft Versus Host Disease
Diarrhea, Gastroesophageal reflux, Abnormal vagina morphology, Urinary bladder inflammation, Fasc... ORPHA:99921
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Inflammation of the large intestine, Diarrhea, Periodontitis... ORPHA:79259
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Cholecystitis, Abdominal distention ORPHA:309256
Hereditary Spherocytosis
Abdominal pain, Maculopapular exanthema, Gout, Abdominal distention ORPHA:822
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Vomiting, Abnormality of the men... ORPHA:90794
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... ORPHA:2232
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Premature ovarian insufficiency, Hypospadias, Endometriosis ORPHA:363444
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea ORPHA:100085
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Dysphagia, Autonomic erectile d... ORPHA:85443
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal distention, Eczematoid dermatitis, Vomiting, Mala... ORPHA:3260
Thyroid Hypoplasia
Constipation, Abdominal distention ORPHA:95720
Cirrhosis, Familial
Fulminant hepatitis, Abdominal distention OMIM:215600
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Bifid scrotum, Cys... ORPHA:322
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Multiple Endocrine Neoplasia Type 2
Constipation, Diarrhea, Cervical neoplasm, Abdominal distention ORPHA:653
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Dysphagia, Hydrocele testis, Hypospadia... OMIM:619522
Renal Cysts And Diabetes Syndrome
Gout, Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bi... OMIM:137920
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Schimke Immunoosseous Dysplasia
Protuberant abdomen, Bilateral cryptorchidism OMIM:242900
Ulnar-Mammary Syndrome
Imperforate hymen, Small scrotum, Shawl scrotum, Micropenis, Bicornuate uterus OMIM:181450
Fryns Syndrome
Gastroesophageal reflux, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Pseudotrisomy 13 Syndrome
Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
Spondyloepimetaphyseal Dysplasia, Shohat Type
Premature osteoarthritis, Abdominal distention ORPHA:93352
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis, Abdominal distention ORPHA:309263
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Arthritis, Papillary cystadenoma of the epididymis, Hypospadias, Bicornuate ... ORPHA:93111
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Nausea and vomiting,... ORPHA:275761
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Abdominal pain, Keratoconjunctivitis sicca, Abdominal distention, Steatorrhea, Colitis ORPHA:309031
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysmotility, Constipati... ORPHA:2131
Fraser Syndrome 2
Ambiguous genitalia, Abdominal distention OMIM:617666
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Junctional Epidermolysis Bullosa With Pyloric Atresia
Recurrent skin infections, Nausea and vomiting, Urinary bladder inflammation, Abdominal distention ORPHA:79403
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... ORPHA:508
Colonic Atresia
Abdominal distention ORPHA:1198
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Reye syndrome-like episodes, Abdomina... OMIM:256810
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Feeding difficulties in infancy, Enlarged ovaries, Dysphagia, Shaw... ORPHA:2745
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Cholesteryl Ester Storage Disease
Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Protuberant abdomen, Steatorrhea OMIM:278000
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism OMIM:601186
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Bowel incontinence, Abdominal distention ORPHA:309271
Fanconi-Bickel Syndrome
Hepatic failure, Abdominal distention ORPHA:2088
Ulnar-Mammary Syndrome
Hypoplasia of penis, Decreased fertility, Cryptorchidism, Abnormality of the uterus ORPHA:3138
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Uterus didelphys, Cryptorchidism, Ambiguous genitalia, Abdominal distention, Hypoplasia of penis,... ORPHA:93271
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal female external genitalia morphology, Vaginal fistula, Persistent cloaca ORPHA:1112
Abnormality of the uterus ORPHA:59315
Adams-Oliver Syndrome 1
Imperforate hymen OMIM:100300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Protuberant abdomen, Micropenis, Tube feeding, Hypospadias, Feeding difficulties OMIM:619479
Primary Sjögren Syndrome
Arteritis, Vaginal dryness, Parotitis, Chronic active hepatitis, Lymphocytic interstitial pneumon... ORPHA:289390
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Multicystic Dysplastic Kidney
Cryptorchidism, Abdominal distention ORPHA:1851
Fanconi-Bickel Syndrome
Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonadal dysgenesis OMIM:618419
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Castleman Disease
Abdominal pain, Nausea and vomiting, Intestinal obstruction, Abdominal distention ORPHA:160
Chronic diarrhea, Abdominal distention ORPHA:635
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Gaucher Disease, Type Ii
Gastroesophageal reflux, Protuberant abdomen, Recurrent aspiration pneumonia, Dysphagia, Feeding ... OMIM:230900
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Primary Biliary Cholangitis
Hepatic failure, Hepatitis, Gastrointestinal inflammation, Abdominal distention, Steatorrhea ORPHA:186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Rectovagina... OMIM:129900
Combined Immunodeficiency-Enteropathy Spectrum
Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Abdominal distention, Bloody diarrhea ORPHA:436252
Diarrhea, Vomiting, Gastroesophageal reflux, Hypoplasia of the ovary, Bicornuate uterus ORPHA:79328
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Female pseudohermaphroditism, Urogenital sinus anomaly, Displacement... ORPHA:2973
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen OMIM:277440
Pagod Syndrome
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... ORPHA:991
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Transverse vaginal septum, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Blepharitis OMIM:604292
Familial Visceral Myopathy
Abdominal distention ORPHA:2604
Liver Disease, Severe Congenital
Pneumonia, Dependency on parenteral nutrition, Hepatic failure, Diarrhea, Vomiting, Eczematoid de... OMIM:619991
Protuberant abdomen OMIM:608022
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pyelonephritis, Abdominal distention OMIM:619351
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Parotitis, Recurrent otitis media, Episcleritis, Recurrent sinusitis, Chr... OMIM:256040
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Abnormal testis morphology,... ORPHA:84
Schneckenbecken Dysplasia
Protuberant abdomen OMIM:269250
Glycogen Storage Disease Ia
Intermittent diarrhea, Pancreatitis, Gout, Protuberant abdomen OMIM:232200
Atelosteogenesis, Type I
Cryptorchidism, Protuberant abdomen OMIM:108720
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia ORPHA:2916
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Constipatio... ORPHA:857
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Uterine prolapse OMIM:123700
Protuberant abdomen OMIM:269921
Hydrolethalus Syndrome 1
Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Protuberant abdomen OMIM:269860
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Protuberant abdomen OMIM:253220
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Malabsorption, Otitis media, Constipation, Protuberant abdomen, Intermitten... ORPHA:581
Wilson Disease
Hepatic failure, Vomiting, Acute hepatic failure, Atypical or prolonged hepatitis, Osteoarthritis... OMIM:277900
Hurler Syndrome
Recurrent otitis media, Protuberant abdomen OMIM:607014
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia majora, Micropenis, Bicornuate uterus, Hypoplastic ... OMIM:269150
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Limb-Mammary Syndrome
Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis, Aplasia of the ... ORPHA:69085
Hermansky-Pudlak Syndrome 6
Bowel incontinence, Perineal fistula, Endometriosis OMIM:614075
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention OMIM:619362
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Female infertility, Recurrent otitis media, Abnormality of t... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Female infertility, Recurrent otitis media, Abnormality of t... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Female infertility, Recurrent otitis media, Abnormality of t... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Female infertility, Recurrent otitis media, Abnormality of t... ORPHA:99226
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Fibrochondrogenesis 1
Protuberant abdomen OMIM:228520
Achondrogenesis, Type Ii
Protuberant abdomen OMIM:200610
Microphthalmia, Syndromic 2
Septate vagina, Hypospadias, Cryptorchidism OMIM:300166
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Arboleda-Tham Syndrome
Gastroesophageal reflux, Bilateral cryptorchidism, Recurrent otitis media, Protuberant abdomen, C... OMIM:616268
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention ORPHA:158684
Glycogen Storage Disease Ib
Inflammation of the large intestine, Pancreatitis, Gout, Protuberant abdomen OMIM:232220
Distal Deletion 19P
Vaginal hernia ORPHA:96129
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Hepatic failure, Septate vagina, Malabsorption, Cryptorchidism, Micropenis,... OMIM:243800
Fryns Syndrome
Bifid scrotum, Cryptorchidism, Shawl scrotum, Bicornuate uterus, Hypospadias OMIM:229850
Thyroid Ectopia
Constipation, Dysphagia, Abdominal distention ORPHA:95712
Mowat-Wilson Syndrome
Vomiting, Bifid scrotum, Recurrent otitis media, Cryptorchidism, Constipation, Abdominal distenti... OMIM:235730
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Abdominal distention OMIM:617156
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Feeding difficulties OMIM:614083
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Recurrent pneumonia, Protuberant abdomen OMIM:252500
Mowat-Wilson Syndrome
Webbed penis, Vomiting, Bifid scrotum, Recurrent otitis media, Septate vagina, Cryptorchidism, Ch... ORPHA:2152
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Protuberant abdomen OMIM:258480
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Constipation, Abdominal distention OMIM:218700
Townes-Brocks Syndrome 1
Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rect... OMIM:107480
Okamoto Syndrome
Bifid uterus, Gastroesophageal reflux ORPHA:2729
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Mucolipidosis Type Ii
Otitis media, Protuberant abdomen, Gastrostomy tube feeding in infancy ORPHA:576
Atelosteogenesis Type Ii
Protuberant abdomen ORPHA:56304
Achondrogenesis, Type Ia
Protuberant abdomen OMIM:200600
Kasabach-Merritt Phenomenon
Abdominal pain, Abdominal distention ORPHA:2330
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Bifid scrotum, Recurrent otitis media, Septate vagina, Cryptorchidism, Chordee, Con... ORPHA:261537
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis, Bicornuate uterus, D... ORPHA:2363
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Norrie Disease
Erectile dysfunction, Uterine rupture, Cryptorchidism ORPHA:649
7Q11.23 Microduplication Syndrome
Aplasia/hypoplasia of the uterus, Cryptorchidism, Chronic constipation, Hypospadias, Chronic otit... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Nasogastric tube feeding, Recurrent otitis media, Cryptorchidism, Chronic cons... OMIM:619503
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Bifid scrotum, Recurrent otitis media, Septate vagina, Cryptorchidism, Chordee, Con... ORPHA:261552
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Cryptorchidism, Gastrostomy tube feeding in infancy, Protuberant abd... ORPHA:96334
Atresia Of Urethra
Abdominal distention ORPHA:105
Viss Syndrome
Atopic dermatitis, Gastroesophageal reflux, Eczematoid dermatitis, Chronic gastritis, Chronic con... OMIM:619472
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic failure, Protuberant abdomen OMIM:218330
Greenberg Dysplasia
Protuberant abdomen OMIM:215140
Cowden Syndrome
Abnormal penis morphology, Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the... ORPHA:201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
22Q11.2 Deletion Syndrome
Hypospadias, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormality of the uterus, Cry... ORPHA:567
Weill-Marchesani Syndrome 2
Protuberant abdomen OMIM:608328
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Vomiting, Uterine prolapse, Chronic constipation, Osteoarthritis, Nausea... ORPHA:287
Peters-Plus Syndrome
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Feeding difficulties in infan... OMIM:261540
Peters Plus Syndrome
Cryptorchidism, Feeding difficulties in infancy, Hypoplasia of the uterus, Hypospadias, Clitoral ... ORPHA:709
Vascular Ehlers-Danlos Syndrome
Periodontitis, Uterine rupture, Gastrointestinal infarctions, Cystocele, Cryptorchidism, Uterine ... ORPHA:286
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen ORPHA:50945
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Abdominal distention ORPHA:3003
Cornelia De Lange Syndrome
Gastroesophageal reflux, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Fee... ORPHA:199
Eisenmenger Syndrome
Bacterial endocarditis, Abdominal distention ORPHA:97214
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen OMIM:618019
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Gastroesophageal reflux, Aspiration pneumonia, Cryptorchidism, Uterine prolap... ORPHA:438213
Meckel Syndrome, Type 1
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... OMIM:249000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Seborrheic dermatitis OMIM:274000
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Bicornuate uterus, Hypos... OMIM:268300
Aneurysm-Osteoarthritis Syndrome
Knee osteoarthritis, Uterine prolapse, Osteoarthritis of the small joints of the hand, Osteoarthr... ORPHA:284984
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Abdominal distention OMIM:619534
Pallister-Killian Syndrome
Small scrotum, Nasogastric tube feeding, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia... OMIM:601803
Wolf-Hirschhorn Syndrome
Precocious puberty, Gastroesophageal reflux, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:194190
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Feeding difficulties in infancy, Hyp... OMIM:135900
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Cystocele, Uterine prolapse, Knee osteoarthritis, Eosinophilic infiltration o... OMIM:613795
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820


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 Epha1

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 Epha1.

No publications found that use IMPC mice or data for Epha1.

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
Epha1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Epha1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Epha1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Epha1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter