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Gene: Prokr2 MGI:2181363

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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:
prokineticin receptor 2
Synonyms:
Gpcr73l1,  PKR2,  EG-VEGRF2,  Gpr73l1,  B830005M06Rik

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 Prokr2 mutations

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

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

The table below shows human diseases associated to Prokr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorch... ORPHA:95496
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Agenesis o... ORPHA:3157

The table below shows human diseases predicted to be associated to Prokr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... OMIM:300869
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... OMIM:614837
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Sim1-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc... ORPHA:398079
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Ane Syndrome
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone sti... ORPHA:3464
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy OMIM:618165
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc... ORPHA:398069
Primary Erythromelalgia
Hypothermia ORPHA:90026
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... ORPHA:3044
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spontaneous Periodic Hypothermia
Gait disturbance, Ataxia, Hypothermia ORPHA:29822
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... OMIM:241080
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... ORPHA:247768
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Alopecia of scalp, Hypogonadism, Decreased testicular... OMIM:201100
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Premature ovarian insufficiency, Hypospadias, Hypergonadotrop... ORPHA:2959
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Macroorchidism, Hyperthyroidism, ... ORPHA:562
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Idiopathic Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:95717
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia... ORPHA:96181
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypo... ORPHA:110
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus OMIM:615524
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora, Synophrys, ... ORPHA:495875
Hydatidiform Mole
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus ORPHA:99927
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Familial Thyroid Dyshormonogenesis
Lethargy, Hypothermia ORPHA:95716
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Meningococcal Meningitis
Fever, Lethargy, Hypothermia ORPHA:33475
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Sparse eyebrow, Cryptorchidism, Synophrys, Abnormality of the Leydig cells, Testicul... ORPHA:3063
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Agenesis of corpus callosum, Vaginal atresia OMIM:617914
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Meckel Syndrome 12
Hypoplasia of the uterus, Agenesis of corpus callosum, Vaginal atresia OMIM:616258
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Robinow Syndrome
Small scrotum, External genital hypoplasia, Cryptorchidism, High anterior hairline, Micropenis, H... ORPHA:97360
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Gonadal ... OMIM:618820
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Bardet-Biedl Syndrome 6
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia OMIM:605231
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Neonatal death OMIM:613390
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Menkes Disease
Hypothermia OMIM:309400
Genetic Transient Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:226316
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow, Sparse pub... OMIM:618419
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Death in infancy OMIM:613730
Timothy Syndrome
Hypothermia OMIM:601005
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... OMIM:615866
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypothermia ORPHA:159
Rabson-Mendenhall Syndrome
Enlarged ovaries, Thick hair, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mell... ORPHA:769
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Choreoathetosis, Athetosis, Lethargy, Temperature instability OMIM:608643
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Hypop... OMIM:261540
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Dysplastic corpus callosum, Hydrocele testis, Neonatal death, Micro... OMIM:618810
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Camptobrachydactyly
Septate vagina ORPHA:1319
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Temperature in... ORPHA:99027
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus, Neonatal death OMIM:601186
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Hypothermia ORPHA:90673
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Abnormal circulating leptin concentration, Enlarged polycystic ovarie... ORPHA:2298
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorch... ORPHA:95496
Lumbar Syndrome
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... ORPHA:83628
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Lethargy, Ataxia, Hypothermia ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia ORPHA:26793
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Leopard Syndrome 1
Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the ovary, Delayed m... OMIM:151100
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Camptobrachydactyly
Septate vagina OMIM:114150
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hydrocephalus, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Lymphatic Malformation 12
Hydrocele testis, Neonatal death, Death in adolescence OMIM:620014
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Hypothermia ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Alexander Disease
Gait disturbance, Ataxia, Hypothermia ORPHA:58
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Gait ataxia ORPHA:255210
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothermia ORPHA:488632
Hypoplasminogenemia
Hydrocephalus, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Mckusick-Kaufman Syndrome
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly ORPHA:2473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... ORPHA:293978
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Ethylene Glycol Poisoning
Ataxia, Hypothermia ORPHA:31826
Meacham Syndrome
Death in infancy, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, St... OMIM:608978
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi... OMIM:620303
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia, Hypothermia ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Choreoathetosis, Unsteady gait, Hypothermia ORPHA:17
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Hypothermia OMIM:218700
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... OMIM:129900
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of cor... ORPHA:457284
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Premature graying of h... OMIM:193500
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Spina bifida occulta,... OMIM:300707
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Micropenis, Aplasi... ORPHA:672
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ... OMIM:614527
Alg9-Cdg
Low posterior hairline, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples, Hypertri... ORPHA:79328
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... OMIM:604292
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Narcolepsy, Hypothermia ORPHA:293987
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Death in infancy, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, ... OMIM:270400
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Agenesis o... ORPHA:3157
Cln3 Disease
Hirsutism, Increased circulating androgen concentration ORPHA:228346
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Low posterior hairline, Neonatal death, Mic... OMIM:617925
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Congenital hypothyroidism, Hypoplasia of the uterus, ... ORPHA:709
Menkes Disease
Hypothermia ORPHA:565
Townes-Brocks Syndrome 2
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus OMIM:617466
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia OMIM:101200
Marburg Hemorrhagic Fever
Fever, Lethargy, Hypothermia ORPHA:99826
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Adrenal gland agenesi... OMIM:273395
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus ORPHA:2879
Fraser Syndrome
Encephalocele, Death in infancy, Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair p... ORPHA:2052
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Sparse eyelashes, Absent eyelashes, Cry... OMIM:264090
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Abnormality of the hairline OMIM:248450
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly ORPHA:2570
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... OMIM:181450
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Myelomeningocele, H... OMIM:219000
Occipital Horn Syndrome
Hypothermia ORPHA:198
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... ORPHA:69085
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth h... ORPHA:3455
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Recurrent fever, Hypothermia, Unexplained fevers ORPHA:642
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ... ORPHA:1521
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Neural tube defect, Generalized hy... ORPHA:798
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Johanson-Blizzard Syndrome
Sparse scalp hair, Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Crypto... OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Hypothermia ORPHA:438213
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Severe hydrocephalus, Adrenal gland dysgenesi... OMIM:236680
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Laterally curved eyebrow, Hyp... OMIM:300166
Neu-Laxova Syndrome 1
Spina bifida, Bifid uterus, Absent eyelashes, Cryptorchidism, Stillbirth, Neonatal death, Hydrane... OMIM:256520
Sarcoidosis
Fever, Hypothermia ORPHA:797
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty, Abnorm... ORPHA:649
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia OMIM:617088
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Imperforate hymen, Supernumerary nipple OMIM:100300
Chand Syndrome
Curly hair, Imperforate hymen ORPHA:1401
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly ORPHA:2165
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Hirsutism, Increased circulating androgen concentration ORPHA:2976
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Hydrocephalus, R... OMIM:107480
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Bilateral cryptorchidism, Hydrometrocolpos, Sparse hair, Alopecia of scalp, Th... OMIM:150230
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, White hair ORPHA:2720
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, H... ORPHA:99413
Turner Syndrome
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, H... ORPHA:881
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, H... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, H... ORPHA:99226
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate hymen OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Lateral ventricle d... ORPHA:261537
Williams Syndrome
Death in early adulthood, Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty,... ORPHA:904
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Oligomenor... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Highly arched eyebrow, Cryptorchidism, Hydrocele test... ORPHA:261552
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ... OMIM:601803

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 Prokr2

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 Prokr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The PROK2/PROKR2 signaling pathway is required for the migration of most olfactory bulb interneurons. The Journal of comparative neurology (June 2019) Prokr2tm1(KOMP)Vlcg 31132148

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MGI Allele Allele Type Produced
Prokr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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