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Gene: Gadd45g MGI:1346325

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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:
growth arrest and DNA-damage-inducible 45 gamma
Synonyms:
OIG37,  CR6

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 Gadd45g 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 Gadd45g by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Cryptorchidism, Ambiguous genitalia, Sex reversal OMIM:614279
46,Xy Sex Reversal 9
Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia, Sex reversal OMIM:616067
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism ORPHA:1643
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
46,Xy Sex Reversal 1
Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Gonadoblastoma, Elevated cir... OMIM:400044
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Fever, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granul... OMIM:608898
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... OMIM:612965
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Thrombocytopenia, Eczema, Defective T cell proliferation, D... OMIM:614493
46,Xy Sex Reversal 6
Dysgerminoma, Gonadoblastoma, Clitoral hypertrophy, Sex reversal, Chordee, Gonadal dysgenesis, Hy... OMIM:613762
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level, Sex reversal OMIM:613080
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Fever, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physio... OMIM:613101
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea OMIM:184700
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... OMIM:619834
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Leukocytosis, Decreased cir... OMIM:619281
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... ORPHA:280356
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility OMIM:619145
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Immunodeficiency 81
Recurrent cutaneous abscess formation, Decreased proportion of class-switched memory B cells, Ski... OMIM:619374
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... ORPHA:3085
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Hypoplasia o... ORPHA:168563
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Sex reversal, Adrenocorticotropic hormone excess OMIM:613743
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... OMIM:146110
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia ORPHA:79084
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... OMIM:264300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Reduced natural killer cell activity, Inc... OMIM:308240
Immunodeficiency 20
Recurrent otitis media, Reduced natural killer cell count, Reduced natural killer cell activity, ... OMIM:615707
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea... OMIM:615559
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... ORPHA:752
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Hypergonadotropic ... OMIM:268020
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Polycystic ovaries, Abnormal... ORPHA:1227
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Testicular adrenal rest tumor, Increased ser... ORPHA:90795
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Autoinflammation With Infantile Enterocolitis
Fever, Skin rash, Anemia, Reduced natural killer cell activity, Reduced natural killer cell count... OMIM:616050
Familial Adenomatous Polyposis 4
Ovarian cyst, Thyroid adenoma, Uterine leiomyoma, Renal cyst OMIM:617100
Precocious Puberty, Central, 2
Premature pubarche, Premature thelarche OMIM:615346
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... ORPHA:251510
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... ORPHA:753
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:79085
Androgen Insensitivity Syndrome
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... ORPHA:754
Ovarian Dysgenesis 3
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... OMIM:614324
Serkal Syndrome
Hypospadias, Abnormal penis morphology, Abnormality of the adrenal glands, Sex reversal ORPHA:139466
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus ORPHA:275555
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Polycystic ovaries, Type II... ORPHA:100
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Decrea... ORPHA:243
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... ORPHA:457059
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Type... OMIM:604367
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... ORPHA:2235
Cortisone Reductase Deficiency 1
Oligomenorrhea, Precocious puberty, Infertility OMIM:604931
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... ORPHA:432
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Leydig Cell Hypoplasia
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
46,Xy Sex Reversal 4
Agonadism, Hypoplasia of the uterus, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Se... OMIM:154230
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... ORPHA:314478
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... ORPHA:435651
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Congenital Generalized Lipodystrophy
Oligomenorrhea, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty i... ORPHA:528
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Abnormal labia majora morphology, Dec... ORPHA:435660
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... ORPHA:64739
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Donohue Syndrome
Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Ovarian cyst, Long pen... OMIM:246200
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Fever, Hemophagocytosis OMIM:607624
Paternal Uniparental Disomy Of Chromosome X
Infertility, Decreased testicular size, Micropenis ORPHA:261524
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... ORPHA:91
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Primary hypercortisolism, Decreased circulating ACTH level,... OMIM:610475
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis, Multicystic kidney dy... ORPHA:110
Congenital Fibrinogen Deficiency
Decreased testicular size, Micropenis, Hemorrhagic ovarian cyst ORPHA:335
Mccune-Albright Syndrome
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... ORPHA:562
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Cowden Syndrome 6
Goiter, Hypothyroidism, Hyperthyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hydrocele tes... OMIM:615109
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Dysmenorrhea, Maternal diabetes, Primary amenorrhea, Diabetes mellitus, Polycysti... ORPHA:79083
Cowden Syndrome 5
Goiter, Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroid adenoma, Hydrocele testis, Thyroid... OMIM:615108
Frasier Syndrome
Male pseudohermaphroditism, Ovarian gonadoblastoma, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries ORPHA:2348
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... ORPHA:1916
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb... OMIM:300853
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Cowden Syndrome 1
Goiter, Hypothyroidism, Hyperthyroidism, Varicocele, Ovarian carcinoma, Ovarian cyst, Thyroid ade... OMIM:158350
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Abnormality of... ORPHA:785
46,Xx Sex Reversal 4
Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Retractile testis, Clitoral hypertrophy... OMIM:617480
Primary Lipodystrophy
Polycystic ovaries, Menometrorrhagia, Type II diabetes mellitus ORPHA:90970
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... OMIM:300291
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Recurrent oti... ORPHA:277
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Fever, Hemophagocytosis, Skin rash, Leukopenia, Anemia, Reduced natural kille... OMIM:603553
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... ORPHA:572333
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... OMIM:301000
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... ORPHA:247768
46,Xy Ovotesticular Difference Of Sex Development
Perineal hypospadias, Abnormality of the clitoris, Fused labia minora, Micropenis, Ambiguous geni... ORPHA:325345
Cystic Echinococcosis
Abnormality of the testis size, Ovarian cyst, Hepatic cysts, Renal cyst ORPHA:400
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... OMIM:202110
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Recurrent otitis media, Recurrent pneu... OMIM:240500
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:95619
Spontaneous Periodic Hypothermia
Hypothermia, Skin rash ORPHA:29822
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm, Precocious puberty with Sertoli cell tumor OMIM:175200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Nodular goiter, Type I diabetes mellitus, Premature thelarche ORPHA:371428
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Congenital Enterovirus Infection
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Fever, Leukopenia, Skin rash, Anemia, ... ORPHA:292
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Riboflavin Deficiency
Hypothermia OMIM:615026
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Azoospermia, Male infertility OMIM:277180
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Oligomenorrhea, Dysmenorrhea, Delayed puberty, Polycystic ovaries, Irregular menstruation ORPHA:370
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microphallus, Small scrotum, Sex reversa... OMIM:612651
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Chronic oral c... OMIM:608233
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Fused l... ORPHA:95699
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Fever, Skin rash, Dec... ORPHA:331206
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries ORPHA:79240
Proteus-Like Syndrome
Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasia ORPHA:2969
Fibrous Dysplasia Of Bone
Hyperpituitarism, Elevated circulating growth hormone concentration, Diabetes mellitus, Increased... ORPHA:249
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Dysmenorrhea, Delayed puberty, Polycystic ovaries, Irregular menstruation ORPHA:264580
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... ORPHA:3464
Infantile Systemic Hyalinosis
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Abnormality of the adrenal glands ORPHA:2176
Denys-Drash Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis ORPHA:220
Methemoglobinemia And Ambiguous Genitalia
Male pseudohermaphroditism, Micropenis, Ambiguous genitalia, Decreased circulating dehydroepiandr... OMIM:250790
Acquired Generalized Lipodystrophy
Polycystic ovaries, Insulin-resistant diabetes mellitus, Hyperinsulinemia ORPHA:79086
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Skin rash, Autoimmune t... ORPHA:572
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Diabetes mellitus, Polycystic ovaries, Decreased serum leptin, Secondary amenorrhea... ORPHA:280365
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Impaired Ig class switch recombination, Stomatitis, Chronic hepa... OMIM:308230
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormal salivary gland morphology, Abnormal circulating lept... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Polycystic ovaries, Clitoral hypertrophy, Hyperinsulinemia, Decre... OMIM:269700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran... ORPHA:35078
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Diabetes mellitus, Polycystic ovaries, Clitoral hypertrophy, Hype... OMIM:608594
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Ovarian cyst OMIM:618188
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Peutz-Jeghers Syndrome
Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts, Enlarged polycystic ovaries ORPHA:2869
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... OMIM:600802
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Renal cyst, Ovarian cyst, Unicornuate uterus, Multicystic kidney dysplasia, Aplas... OMIM:614527
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Insuli... OMIM:151660
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... OMIM:201750
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Meningococcal Meningitis
Infectious encephalitis, Hypothermia, Fever, Skin rash ORPHA:33475
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Permanent Congenital Hypothyroidism
Hypothermia ORPHA:226292
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Reduced delayed hypersensitivity, Recurre... OMIM:242700
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Vaginal Atresia
Uterus didelphys, Primary amenorrhea, Transverse vaginal septum, Imperforate hymen, Vaginal atres... ORPHA:65681
Timothy Syndrome
Pneumonia, Hypothermia OMIM:601005
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Pancreatic cysts, Hepatic cysts OMIM:311200
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Recurrent pneumonia, Abnormality of temperature regulation, Fever OMIM:618493
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Menkes Disease
Hypothermia OMIM:309400
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... OMIM:151100
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Fever, Leukopenia, Anemia, Acute pancreatitis, Hypothermia, Thrombocytosis ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Polycystic ovaries, Menorrhagia, Irregular menstruation, Hypothyroidism, Thyroid... ORPHA:79259
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Cutaneous anergy, Neutropenia, Colitis, Infectious encephalitis, Panhypogammaglobuli... OMIM:209920
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Streak ovary, Uterus ... OMIM:618820
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Maculopapular exanthema, Fever, Increased circulating anti... ORPHA:99826
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Hypothermia, Normochromic anemia OMIM:618775
Congenital Hypothyroidism
Sinusitis, Hypothermia ORPHA:442
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Hypothermia ORPHA:26793
Bardet-Biedl Syndrome 1
Decreased testicular size, Micropenis, Hypogonadism, Abnormality of the ovary, Diabetes mellitus,... OMIM:209900
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Hypothermia, Anemia ORPHA:230
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Increased pineal volume, Clitoral hypertrophy, Fasting hyperi... ORPHA:769
Campomelic Dysplasia
Hypospadias, Sex reversal OMIM:114290
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypothermia, Splenomegaly OMIM:251880
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis OMIM:619321
Immunodeficiency 58
Chronic otitis media, Recurrent cutaneous abscess formation, Decreased specific antibody response... OMIM:618131
Digeorge Syndrome
Hypoplasia of the thymus, Parathyroid hypoplasia, Decreased circulating parathyroid hormone level... OMIM:188400
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Leukocytosis, Fever, Thrombocytopenia, Hypothermia, Thrombocytosis ORPHA:94093
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Cowden Syndrome
Neoplasm of the thyroid gland, Goiter, Adenoma sebaceum, Abnormality of the thyroid gland, Abnorm... ORPHA:201
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Eczematoid dermatitis, Atypical or prolonged hepatitis, Oligoclonal T cell ... ORPHA:83471
Tbck-Related Intellectual Disability Syndrome
Eczema, Hypothermia ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Megaloblastic anemia, Thrombocytopenia, Hypothermia, Neutropenia ORPHA:79282
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Aspiration pneumonia ORPHA:99027
Alg9-Cdg
Hypoplastic nipples, Hypoplasia of the ovary, Hepatic cysts, Bicornuate uterus ORPHA:79328
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary hypoplasia, Decre... ORPHA:90695
Alexander Disease
Infectious encephalitis, Hypothermia ORPHA:58
Ethylene Glycol Poisoning
Hypothermia, Gastritis ORPHA:31826
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Opitz Gbbb Syndrome
Cryptorchidism, Shawl scrotum, Enlarged ovaries, Bicornuate uterus, Bifid scrotum, Thyroglossal c... ORPHA:2745
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia OMIM:608643
Williams Syndrome
Cryptorchidism, Polycystic ovaries, Multiple renal cysts, Hypoplasia of penis, Type II diabetes m... ORPHA:904
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Sarcoidosis
Maculopapular exanthema, Fever, Tubulointerstitial nephritis, Hemolytic anemia, Leukopenia, Anemi... ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Abscess, Fasciitis, Recurrent fever, Septic arthritis, Osteomyelitis, Hypothermia, Tooth ... ORPHA:642
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Leprechaunism
Hyperaldosteronism, Increased circulating renin level, Central hypothyroidism, Clitoral hypertrop... ORPHA:508
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia ORPHA:17
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Fever ORPHA:255210
Menkes Disease
Osteomyelitis, Hypothermia ORPHA:565
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Fever, Leukocytosis, Hemolytic an... ORPHA:544482
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Limb-Mammary Syndrome
Primary amenorrhea, Hypoplastic nipples, Breast aplasia, Aplasia of the ovary, Absent nipple, Bil... ORPHA:69085
Occipital Horn Syndrome
Hepatitis, Hypothermia, Esophagitis ORPHA:198
Schinzel-Giedion Syndrome
Micropenis, Central hypothyroidism, Renal cyst, Streak ovary, Annular pancreas, Hypospadias ORPHA:798
Alström Syndrome
Decreased testicular size, Micropenis, Polycystic ovaries, Precocious puberty in females, Testicu... ORPHA:64
Proteus Syndrome
Renal cyst, Diabetes insipidus, Neoplasm of the thymus, Thymus hyperplasia, Ovarian neoplasm, Mac... ORPHA:744
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Infectious encephalitis, Hypothermia, Fever ORPHA:293987
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Fever, Increased circulating antibody level, Uveitis, Arthri... OMIM:181000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99413
Turner Syndrome
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99228
Monosomy X
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Hypothermia, Anemia ORPHA:438213
Progeroid Short Stature With Pigmented Nevi
Lack of facial subcutaneous fat, Allergic conjunctivitis, Allergic rhinitis, Impaired T cell func... OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237

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 Gadd45g

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 Gadd45g.

No publications found that use IMPC mice or data for Gadd45g.

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MGI Allele Allele Type Produced
Gadd45gtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gadd45gtm214792(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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