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Gene: Ddx20 MGI:1858415

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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:
DEAD box helicase 20
Synonyms:
GEMIN3,  dp103,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

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 Ddx20 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 Ddx20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Invasive Mole
Menometrorrhagia ORPHA:99925
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Gordon Holmes Syndrome
Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe... OMIM:212840
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin OMIM:614962
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... ORPHA:2410
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... ORPHA:90795
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... ORPHA:95619
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati... OMIM:600955
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... OMIM:268020
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hepatomegaly, Infertility OMIM:602390
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Hepatomegaly, Decreased serum leptin, Diabet... OMIM:615238
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... ORPHA:2745
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper... ORPHA:508
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrh... ORPHA:79083
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Menorrhagia ORPHA:168816
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Dysmenorrhea, Polycystic ovaries, Hepatomegaly, Diabetes mellitus, Secondary amenor... ORPHA:2348
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Delayed puberty,... ORPHA:100
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom... ORPHA:201
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Familial Adenomatous Polyposis 4
Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Wolfram Syndrome 2
Diabetes insipidus, Oligomenorrhea, Diabetes mellitus, Primary amenorrhea OMIM:604928
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Hepatomegaly ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Delayed p... ORPHA:264580
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Hepatomegaly, Diabet... ORPHA:280365
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased circulating ost... ORPHA:330015
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari... ORPHA:226307
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Micropenis, Ri... ORPHA:335
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Meningioma
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Hypothalamic hypothyro... ORPHA:2495
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Polycystic ovaries, Dec... OMIM:608594
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge... ORPHA:744
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... OMIM:269700
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Left ventricular hypertrophy, ... OMIM:209900
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Hepatomegaly ORPHA:90308
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Wilson Disease
Abnormality of the menstrual cycle, Hepatomegaly, Splenomegaly ORPHA:905
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Acquired Generalized Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries ORPHA:79086
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor OMIM:175200
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Ovarian cyst ORPHA:400
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Malakoplakia
Abnormality of the menstrual cycle, Prostate neoplasm, Orchitis ORPHA:556
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Menorrhagia, Polycystic ovaries, Hypothyroidism, Delayed puberty, Hepatom... ORPHA:79259
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99226
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst OMIM:311200
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Polycystic ovaries ORPHA:137675
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla... OMIM:188400
African Trypanosomiasis
Abnormality of the menstrual cycle, Hepatosplenomegaly, Abnormality of circulating cortisol level... ORPHA:3385
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hypoplasia of the thymus ORPHA:906
Williams Syndrome
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... ORPHA:904
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64

Histopathology

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

There is no histopathology data for Ddx20

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 Ddx20.

No publications found that use IMPC mice or data for Ddx20.

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
Ddx20tm47586(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ddx20tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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