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Gene: Epha1 MGI:107381

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Eph receptor A1
Synonyms:
Eph,  Esk,  5730453L17Rik

Order Alleles

IMPC Data Collections

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

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.

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
phenotypes		 Matching phenotypes Source
Hydatidiform Mole
Nausea and vomiting, Menometrorrhagia, Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim... ORPHA:65681
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Gonadoblastoma
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... ORPHA:206484
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia OMIM:605231
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal endome... ORPHA:314478
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
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... OMIM:612964
Ovarian Fibroma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calcification, Abnorm... ORPHA:314473
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis ORPHA:313906
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Premature Ovarian Failure 18
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... OMIM:619203
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abdominal distention, Abnormality of the uterus, Abnormal fallopian tube morpholo... ORPHA:1655
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Labial hypoplasia, Blind vagina, Pr... OMIM:300068
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly ORPHA:2473
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
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall... OMIM:158330
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Feeding difficulties, Blind vagina, Micrope... ORPHA:456328
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Menorrhagia, Consti... ORPHA:168816
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ... OMIM:619665
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral crypto... ORPHA:99429
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Perrault Syndrome 4
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... OMIM:615300
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... ORPHA:37202
Müllerian Aplasia And Hyperandrogenism
Acne, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of th... ORPHA:247768
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia OMIM:617088
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Dependency on parenteral nutrition, Bronchiectasis, Secretory diarrhea, Vom... OMIM:619445
Camptobrachydactyly
Septate vagina ORPHA:1319
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Sma... ORPHA:298
Satoyoshi Syndrome
Hypoplasia of the uterus, Diarrhea, Amenorrhea OMIM:600705
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, Ovarian ne... ORPHA:83469
Polyembryoma
Isosexual precocious puberty, Abdominal pain, Abdominal distention, Irregular menstruation, Macro... ORPHA:180229
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Metrorrhagia, Anorexia, Precocious puberty, Abdominal distention, Ovarian ne... ORPHA:370348
Camptobrachydactyly
Septate vagina OMIM:114150
Hypoplasminogenemia
Cervicitis, Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Fixed Drug Eruption
Vaginal mucosal ulceration, Crusting erythematous dermatitis, Stomatitis ORPHA:293812
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Vanishing te... ORPHA:325124
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Bardet-Biedl Syndrome 1
Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis, Abnormality of the ovary OMIM:209900
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Feeding difficulties in infancy, Hepatitis, Cheilitis, Abnormal vagina mo... ORPHA:1334
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Feeding difficulties, Clitoral hypopl... OMIM:164745
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Lead Poisoning
Decreased female libido, Skin rash, Anorexia, Abnormality of the menstrual cycle, Abdominal pain,... ORPHA:330015
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Apert Syndrome
Chronic otitis media, Cryptorchidism, Acne, Vaginal atresia OMIM:101200
Estrogen Resistance
Hypoplasia of the uterus, Acne, Primary amenorrhea, Polycystic ovaries OMIM:615363
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hydrometrocolpos, Gastroesophag... OMIM:150230
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... ORPHA:672
Currarino Syndrome
Septate vagina, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic con... OMIM:176450
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... OMIM:110100
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Meckel Syndrome, Type 8
Ambiguous genitalia, Abdominal distention OMIM:613885
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Rectovaginal fistula, Secretory diarrhea OMIM:270420
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Decreased fertility, Primary amenorrhea, Secondary... ORPHA:243
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... ORPHA:90796
Thyroid Hemiagenesis
Abdominal distention, Constipation ORPHA:95719
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Cryptorchidism, Diarrhea, Vomiting, Decreased liver function OMIM:608104
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Donohue Syndrome
Precocious puberty, Abdominal distention, Long penis, Ovarian cyst, Clitoral hypertrophy OMIM:246200
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Malignant Peritoneal Mesothelioma
Abdominal distention, Peritonitis, Ileus, Abdominal pain ORPHA:168811
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Feeding ... ORPHA:813
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Primary amenorrhea, Episodic abdominal pain, Hypoplasia of the... ORPHA:785
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Pyelonephritis, Chordee, Longitudinal vaginal septu... OMIM:140000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Abnormal fallopian tube morp... ORPHA:2552
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Constipation, Abnormality of the uterus, Decreased testicula... ORPHA:2970
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Gastrointestinal inflammation ORPHA:79409
Meckel Syndrome 14
Ambiguous genitalia, Abdominal distention, Protuberant abdomen, Aplasia of the uterus OMIM:619879
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Waardenburg Syndrome
Intestinal obstruction, Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... OMIM:202010
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia ORPHA:3173
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Nasogastric tube feeding in infancy, Conjunctivitis, Micropenis, Vaginal dryness, Bl... OMIM:106260
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Bronchiectasis, Female infertility OMIM:617577
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen ORPHA:226313
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Poor suck, Female infertility OMIM:619518
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti... ORPHA:95427
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea ORPHA:100924
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis OMIM:613680
Johanson-Blizzard Syndrome
Hypoplasia of penis, Abnormality of the female genitalia, Hypospadias, Abnormal vagina morphology ORPHA:2315
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure ORPHA:75233
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, Vomiting, Infertility, Recur... OMIM:212750
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea, Arthriti... ORPHA:93552
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Achondrogenesis, Type Ib
Abdominal distention OMIM:600972
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Abdominal distention, Intestinal pseudo-obstruction, Vomiting OMIM:300048
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Osteomyelitis, Septic arthritis, Arthritis OMIM:619423
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:609441
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Punctate keratitis ORPHA:92050
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Conjunct... ORPHA:537
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Cryptorchidism, Abdominal distention, Hypoperistalsis ORPHA:2241
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Micropenis, Hepatic failure, Abdominal distention OMIM:235255
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Protuberant abdomen ORPHA:457485
Liver Failure, Infantile, Transient
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention OMIM:613070
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Vomiting, Nausea ORPHA:521219
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Seborrheic dermatitis OMIM:246400
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Eczema, Septate vagina, Precocious puberty, Cryptorchi... OMIM:270400
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Chand Syndrome
Imperforate hymen ORPHA:1401
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus, Gastrostomy tube feeding in infancy ORPHA:457284
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pne... ORPHA:95455
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, ... ORPHA:244
Niemann-Pick Disease, Type A
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Gastroesophageal reflux, Feeding difficulties OMIM:620275
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Poor suck OMIM:615866
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
X-Linked Acrogigantism
Abdominal distention, Hypogonadism ORPHA:300373
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Nephrotic Syndrome, Type 1
Abdominal distention, Gastroesophageal reflux OMIM:256300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Pancreatitis, Minimal change glomerulonephritis ORPHA:1830
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... OMIM:620233
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Cholecystitis, Nausea ORPHA:100086
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Vaginal neoplasm, Hypoperistalsis, Keratitis, Gastroesophageal reflux, Vomiting, Aspir... ORPHA:1018
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abnormal spermat... ORPHA:3464
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus ORPHA:2470
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting ORPHA:71
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Cholecystitis ORPHA:309256
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Irregular menstruation, Enterocolitis, Ulcerative colitis, Polycystic ovaries, Gout, Th... ORPHA:79259
Hereditary Spherocytosis
Abdominal distention, Maculopapular exanthema, Gout, Abdominal pain ORPHA:822
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Premature ovarian insufficiency, Hypospadias, Endometriosis ORPHA:363444
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Thyroid Hypoplasia
Abdominal distention, Constipation ORPHA:95720
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... ORPHA:90794
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis OMIM:215600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... ORPHA:2232
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chordee, Urogeni... OMIM:618820
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias, Gastroesophageal reflux ORPHA:2059
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Dysphagia, Autonomic erectile d... ORPHA:85443
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Cervical neoplasm, Constipation, Diarrhea ORPHA:653
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Diarrhea, Bronchiect... ORPHA:99921
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Renal Cysts And Diabetes Syndrome
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas defe... OMIM:137920
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Papillary cystadenoma of the epididymis, Arthritis, Bicornuate ... ORPHA:93111
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Protuberant abdomen OMIM:242900
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Cholecystitis ORPHA:309263
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Feeding difficulties, Hydrocele testis, Chordee, Dysphagia, Hematoco... OMIM:619522
Fraser Syndrome 2
Ambiguous genitalia, Abdominal distention OMIM:617666
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Premature osteoarthritis ORPHA:93352
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Dy... ORPHA:2745
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, Labial hypertrophy, Lon... ORPHA:508
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Osteomyelitis... OMIM:256810
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abdominal distention, Uterus didelph... ORPHA:93271
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Recurrent skin infections, Urinary bladder inflammation ORPHA:79403
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Colonic Atresia
Abdominal distention ORPHA:1198
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen OMIM:184250
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis ORPHA:309031
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Cholecystitis, Bowel incontinence ORPHA:309271
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure OMIM:278000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Primary Biliary Cholangitis
Abdominal distention, Hepatic failure, Hepatitis, Gastrointestinal inflammation ORPHA:186
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Ulnar-Mammary Syndrome
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis, Decreased fertility ORPHA:3138
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis OMIM:619479
Adams-Oliver Syndrome 1
Imperforate hymen OMIM:100300
Wilson Disease
Acute hepatic failure, Abdominal distention, Osteoarthritis, Atypical or prolonged hepatitis, Vom... OMIM:277900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplasia of the uterus OMIM:618419
Pagod Syndrome
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... ORPHA:991
Gaucher Disease, Type Ii
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia, Recurrent aspirati... OMIM:230900
Castleman Disease
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain ORPHA:160
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody diarrhea, Hashimoto thyroiditis ORPHA:436252
Alg9-Cdg
Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Vomiting, Bicornuate uterus ORPHA:79328
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite OMIM:227810
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Displacement of the urethral meatus, Urogenital sinus anomaly, Femal... ORPHA:2973
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Bowel incontinence, Crypt... ORPHA:857
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Rectovaginal fistula, M... OMIM:129900
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen OMIM:277440
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Pyelonephritis OMIM:619351
Liver Disease, Severe Congenital
Chronic gastritis, Hypospadias, Eczema, Pneumonia, Abdominal distention, Diarrhea, Malnutrition, ... OMIM:619991
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Erythema nodosum, Epididymitis, Irregular menstruation, Chronic constipation, Panni... OMIM:256040
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Diaphanospondylodysostosis
Protuberant abdomen OMIM:608022
Familial Visceral Myopathy
Abdominal distention ORPHA:2604
Schneckenbecken Dysplasia
Protuberant abdomen OMIM:269250
Atelosteogenesis, Type I
Cryptorchidism, Protuberant abdomen OMIM:108720
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Micropenis, Blepharitis OMIM:604292
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vaginal hernia ORPHA:2916
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Bronchiectasis OMIM:123700
Glycogen Storage Disease Ia
Intermittent diarrhea, Gout, Protuberant abdomen, Pancreatitis OMIM:232200
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Protuberant abdomen OMIM:269860
Sialuria
Protuberant abdomen OMIM:269921
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Decreased fertility in m... ORPHA:84
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Hurler Syndrome
Recurrent otitis media, Protuberant abdomen OMIM:607014
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus... OMIM:269150
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Protuberant abdomen OMIM:253220
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Periodontitis, Uterine rupture, Uterine prolapse OMIM:130050
Limb-Mammary Syndrome
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Primary amenorrhea, Aplasia of the ut... ORPHA:69085
Microphthalmia, Syndromic 2
Cryptorchidism, Hypospadias, Septate vagina OMIM:300166
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Thyroiditis, Secondar... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Thyroiditis, Secondar... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Thyroiditis, Secondar... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Thyroiditis, Secondar... ORPHA:99226
Achondrogenesis, Type Ii
Protuberant abdomen OMIM:200610
Fibrochondrogenesis 1
Protuberant abdomen OMIM:228520
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Fryns Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum OMIM:229850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention OMIM:619362
Mucopolysaccharidosis Type 3
Dysphagia, Constipation, Otitis media, Protuberant abdomen, Chronic otitis media, Intermittent di... ORPHA:581
Glycogen Storage Disease Ib
Pancreatitis, Inflammation of the large intestine, Gout, Protuberant abdomen OMIM:232220
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Recurrent otitis media, ... OMIM:616268
Thyroid Ectopia
Abdominal distention, Constipation ORPHA:95712
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting ORPHA:158684
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Abdominal distention, Constipation, Vomiting, Recurre... OMIM:235730
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Distal Deletion 19P
Vaginal hernia ORPHA:96129
Johanson-Blizzard Syndrome
Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovaginal fistula, Microp... OMIM:243800
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abdominal distention, Hepatic failure OMIM:617156
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Feeding difficulties OMIM:614083
Opsismodysplasia
Protuberant abdomen OMIM:258480
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation OMIM:218700
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Bowel incontinence, Cryptorchidism, Gastrointestinal ... ORPHA:2152
Okamoto Syndrome
Gastroesophageal reflux, Bifid uterus ORPHA:2729
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Recurrent pneumonia, Protuberant abdomen OMIM:252500
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Achondrogenesis, Type Ia
Protuberant abdomen OMIM:200600
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Atelosteogenesis Type Ii
Protuberant abdomen ORPHA:56304
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Mucolipidosis Type Ii
Otitis media, Protuberant abdomen, Gastrostomy tube feeding in infancy ORPHA:576
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Bicornuate uterus, D... ORPHA:2363
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Chronic constipation, Aplasia/Hypoplasia of the fallopian tube, Chro... ORPHA:96121
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Bowel incontinence, Cryptorchidism, Hydrocele testis,... ORPHA:261537
Norrie Disease
Cryptorchidism, Erectile dysfunction, Uterine rupture ORPHA:649
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Cryptorchidism, Feeding difficulties, Protuberant abdomen, Gastrosto... ORPHA:96334
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Atopic dermatitis, Feeding difficulties, Chronic constipation, Recurrent otitis m... OMIM:619503
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Bowel incontinence, Cryptorchidism, Hydrocele testis,... ORPHA:261552
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Hepatic failure, Protuberant abdomen OMIM:218330
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the uterus, Enlarged polycystic ... ORPHA:201
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Acne, Bowel incontinence, Seborrheic dermatitis, Feedin... ORPHA:567
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicornuate uterus, Hypospadias OMIM:265380
Greenberg Dysplasia
Protuberant abdomen OMIM:215140
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Hypoplasi... OMIM:261540
Viss Syndrome
Chronic gastritis, Eczema, Abdominal distention, Chronic diarrhea, Atopic dermatitis, Feeding dif... OMIM:619472
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Cervical insufficiency, Chronic constipation, Gastroesophageal reflux, Vomiting, ... ORPHA:287
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Gastrointestinal infarctions, Periodontit... ORPHA:286
Atresia Of Urethra
Abdominal distention ORPHA:105
Weill-Marchesani Syndrome 2
Protuberant abdomen OMIM:608328
Peters Plus Syndrome
Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Hypoplasia of the uterus, Clitoral ... ORPHA:709
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen ORPHA:50945
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Ambiguous genitalia, ma... OMIM:249000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Constipation, ... ORPHA:438213
Eisenmenger Syndrome
Abdominal distention, Bacterial endocarditis ORPHA:97214
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Primary amenor... ORPHA:199
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen OMIM:618019
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... OMIM:268300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Seborrheic dermatitis OMIM:274000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Gastroesophageal reflux OMIM:619534
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Osteoarthritis, Knee osteoarthritis, Osteoarthritis of the small joints of the ... ORPHA:284984
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Gastroesophageal reflux, Aplasia of the uterus OMIM:194190
Coffin-Siris Syndrome 1
Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Aplasia of the uterus, Clitoral hyp... OMIM:135900
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Feeding difficulties, Hypoplastic labia majora, Aplas... OMIM:601803
Loeys-Dietz Syndrome 3
Eosinophilic infiltration of the esophagus, Osteoarthritis, Cystocele, Knee osteoarthritis, Hip o... OMIM:613795
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820

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 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
Epha1tm1a(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

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