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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
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az... ORPHA:432
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H... ORPHA:478
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:244200
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary hypoplasia, Hy... 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
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Sparse axillary hair, Decreased ... ORPHA:52901
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogo... OMIM:308750
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Non-obstructive az... ORPHA:432
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Decreased serum testosterone concentration, Decreased testicular size, Hypogona... OMIM:300869
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Kennedy Disease
Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicula... ORPHA:453533
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Low posterior hairline, Sparse facial hair, Hydrocephalus, Absent facial hair, Abnor... ORPHA:2183
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Central hypothyro... ORPHA:398079
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Hemochromatosis, Type 1
Impotence, Alopecia, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, ... OMIM:235200
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Frontal balding, Hypogonadism OMIM:160900
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Impotence, Hypothalamic hypothyro... ORPHA:2495
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Deleted in azoospermia
Azoospermia OMIM:400003
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Primary Erythromelalgia
Hypothermia ORPHA:90026
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Agenesis of corpus callosum, Low posterior hairline, Ambiguous genitalia, Primary go... ORPHA:261519
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Central hypothyroidism, Hypogonadism, D... ORPHA:398069
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi... ORPHA:243
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Alopecia of scalp, Decreased serum testosterone concentr... OMIM:201100
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp... OMIM:119500
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Abnormal thalamus morphology, Insulin-resistant diabetes mel... ORPHA:2959
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Idiopathic Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:95717
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:280679
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Young Syndrome
Azoospermia OMIM:279000
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular size, H... ORPHA:478
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased response to ... OMIM:300845
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... ORPHA:10
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ring Chromosome 21 Syndrome
Diabetes insipidus, Azoospermia, Amenorrhea, Infertility, Holoprosencephaly ORPHA:1445
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... OMIM:158330
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Neonatal death OMIM:615524
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Satoyoshi Syndrome
Alopecia, Amenorrhea, Hypoplasia of the uterus, Alopecia universalis OMIM:600705
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Meningococcal Meningitis
Fever, Lethargy, Hypothermia ORPHA:33475
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... ORPHA:495875
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
N-Acetylglutamate Synthase Deficiency
Lethargy, Hypothermia OMIM:237310
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Agenesis of corpus callosum OMIM:617914
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Familial Thyroid Dyshormonogenesis
Lethargy, Hypothermia ORPHA:95716
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Hypospadias,... ORPHA:3063
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Agenesis of corpus callosum OMIM:616258
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96263
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Hypothermia, Abnormality of temperature regulation, Unsteady gait OMIM:618493
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Steinert Myotonic Dystrophy
Early balding, Male hypogonadism, Cholelithiasis, Impotence, Alopecia, Decreased response to grow... ORPHA:273
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias, Diabetes mellitus OMIM:605231
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Robinow Syndrome
Webbed penis, Small scrotum, High anterior hairline, Decreased serum testosterone concentration, ... ORPHA:97360
H Syndrome
Alopecia, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, Abnormal eyebrow ... ORPHA:168569
Semilobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93924
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Ring Chromosome 22 Syndrome
Azoospermia, Thick eyebrow, Agenesis of corpus callosum ORPHA:1446
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Death in infa... OMIM:300219
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... OMIM:110100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Abnormal circul... ORPHA:90794
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Agenesi... OMIM:618820
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Menkes Disease
Hypothermia OMIM:309400
Genetic Transient Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:226316
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse ... OMIM:618419
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Death in infancy, Neonatal death, Miscarriage OMIM:613390
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon... OMIM:615866
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death OMIM:613730
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Timothy Syndrome
Hypothermia OMIM:601005
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Delayed ... OMIM:614963
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Agenesis of corpus callosum, Ovotestis, Chordee, Colpocephaly, Hydrocephalu... OMIM:309801
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypothermia ORPHA:159
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Camptobrachydactyly
Septate vagina ORPHA:1319
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Hypothermia ORPHA:90673
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia, Lethargy, Athetosis, Choreoathetosis OMIM:608643
Peters-Plus Syndrome
Facial hypertrichosis, Cryptorchidism, Agenesis of corpus callosum, Hypoplastic labia majora, Hyp... OMIM:261540
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Neonatal death, Dysplastic corpus callosum, Brittle hair, Micropenis, Hydrocele t... OMIM:618810
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Bardet-Biedl Syndrome 12
Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Ataxia, Spastic g... ORPHA:99027
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Lethargy, Hypothermia, Ataxia ORPHA:20
Camptobrachydactyly
Septate vagina OMIM:114150
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism, Neonatal death OMIM:601186
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia ORPHA:26793
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum ORPHA:3301
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Lymphatic Malformation 12
Death in adolescence, Hydrocele testis, Neonatal death OMIM:620014
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Lumbar Syndrome
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... ORPHA:83628
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... ORPHA:3097
Bloom Syndrome
Hypertrichosis, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in fe... OMIM:210900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Sepsis In Premature Infants
Fever, Temperature instability, Hypothermia ORPHA:90051
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari... ORPHA:226307
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Decreased testicular size, Hypoplasia of the ovary, Hydrocephalus, Micropenis OMIM:619321
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Spina bifida, Hydrocephalus... ORPHA:84
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis ORPHA:722
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Hypothermia ORPHA:90674
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Gait ataxia, Hypothermia, Ataxia ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Alexander Disease
Gait disturbance, Hypothermia, Ataxia ORPHA:58
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Meacham Syndrome
Septate vagina, Death in childhood, Death in infancy, Neonatal death, Male pseudohermaphroditism,... OMIM:608978
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothermia ORPHA:488632
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Hypertrichos... ORPHA:1501
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum OMIM:140000
Duplication Of Urethra
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... ORPHA:237
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Ethylene Glycol Poisoning
Hypothermia, Ataxia ORPHA:31826
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia,... ORPHA:2237
Mckusick-Kaufman Syndrome
Glandular hypospadias, Urogenital sinus anomaly, Cryptorchidism, Hydrometrocolpos ORPHA:2473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Abnormal ... ORPHA:1655
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Unsteady gait, Choreoathetosis ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Hypothermia, Ataxia ORPHA:79282
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hirsutism, Nephrogenic diabete... OMIM:209900
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Vaginal atresia, Hypoplastic labia majora, Fused labia minora, Hydrocephalus OMIM:207410
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Insulin-Resistance Syndrome Type B
Alopecia, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting... ORPHA:2298
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Hypothermia OMIM:218700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Aplasia of the vagina, Agenesis of corpus callosum, Aplasia of the uterus, H... ORPHA:457284
Malignant Hyperthermia, Susceptibility To, 5
Malignant hyperthermia, Fever OMIM:601887
Waardenburg Syndrome, Type 1
Premature graying of hair, Myelomeningocele, Thick eyebrow, White forelock, Aplasia of the vagina... OMIM:193500
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse pubic hair, Semilobar holoprosencephaly, Sparse eyebrow, Fair hair, Decreased... OMIM:129900
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Bloom Syndrome
Azoospermia, Sparse eyelashes, Patchy alopecia, Oligozoospermia, Premature ovarian insufficiency,... ORPHA:125
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Spina bifida occulta, Rectovaginal fistu... OMIM:300707
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:293978
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:244200
Oeis Complex
Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitali... OMIM:258040
Alg9-Cdg
Hypertrichosis, Low posterior hairline, Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate ... ORPHA:79328
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Fever, Hypothermia ORPHA:293987
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Hydrocephalus ORPHA:2736
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Cryptorchidism, Ovarian cyst, Aplasia of t... OMIM:614527
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te... OMIM:604292
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Neonatal death, Low posterior hairline, Mic... OMIM:617925
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Partial agenesis of the corpus callosum, Septat... OMIM:270400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fin... ORPHA:534
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Alström Syndrome
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, T... ORPHA:64
Townes-Brocks Syndrome 2
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Peters Plus Syndrome
Congenital hypothyroidism, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hypoplasia of the... ORPHA:709
Menkes Disease
Hypothermia ORPHA:565
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu... OMIM:610489
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Hydrocephalus, Vaginal atresia, Hypoplasia of ... OMIM:273395
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Abnormality of the hairline OMIM:248450
Marburg Hemorrhagic Fever
Fever, Lethargy, Hypothermia ORPHA:99826
Meckel Syndrome 14
Holoprosencephaly, Aplasia of the uterus, Ambiguous genitalia, Occipital encephalocele OMIM:619879
Currarino Syndrome
Septate vagina, Rectovaginal fistula, Bicornuate uterus OMIM:176450
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... OMIM:181450
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Apert Syndrome
Vaginal atresia, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum OMIM:101200
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituitary hypoplasia, Hy... ORPHA:3157
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair... ORPHA:1521
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2570
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Occipital Horn Syndrome
Hypothermia ORPHA:198
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Cholelithiasis, Delayed puberty, Azoospermia ORPHA:2072
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Unexplained fevers, Hypothermia, Recurrent fever ORPHA:642
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism, Meningocele ORPHA:2879
Schinzel-Giedion Syndrome
Annular pancreas, Central hypothyroidism, Streak ovary, Generalized hypertrichosis, Micropenis, H... ORPHA:798
Fraser Syndrome 1
Clitoral hypertrophy, Myelomeningocele, Extension of hair growth on temples to lateral eyebrow, C... OMIM:219000
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Agenesis of corpus callosum, Anencephaly, Adrenal gland dysgenesis, S... OMIM:236680
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Hypothermia ORPHA:438213
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Myelomeningocele, Female pseudohermaphroditism, Crypto... ORPHA:2052
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Fair hair, Septate vagina, Frontal upsweep of hair, Cryptorchidism, Death i... OMIM:243800
Microphthalmia, Syndromic 2
Adrenal insufficiency, Septate vagina, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, H... OMIM:300166
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Hydrometrocolpos OMIM:617088
Chand Syndrome
Imperforate hymen, Curly hair ORPHA:1401
Sarcoidosis
Fever, Hypothermia ORPHA:797
Adams-Oliver Syndrome 1
Imperforate hymen, Alopecia, Encephalocele, Supernumerary nipple OMIM:100300
Norrie Disease
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Abnormality of the dience... ORPHA:649
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Abnormality of the diencephalon ORPHA:2165
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Decr... ORPHA:99889
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... ORPHA:99413
Turner Syndrome
Alopecia, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... ORPHA:881
Mosaic Monosomy X
Alopecia, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... ORPHA:99228
Monosomy X
Alopecia, Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellit... ORPHA:99226
Wiedemann-Rautenstrauch Syndrome
Sparse eyebrow, Long penis, Alopecia, Alopecia of scalp, Cryptorchidism, Agenesis of corpus callo... OMIM:264090
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, White hair, Abnormality of the diencephalon ORPHA:2720
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Hypothyroidism, Hydrocephalus, Rectoperineal fistula, Bifid uterus... OMIM:107480
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:3455
Trichorhinophalangeal Syndrome, Type Ii
Bilateral cryptorchidism, Hydrometrocolpos, Thick eyebrow, Alopecia of scalp, Sparse hair, Sparse... OMIM:150230
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Hydrocele testis, Hypospadias OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Lateral ventricle dilatation, Bifid scrotum, Septate vagina, Cryptorchidism, Agenes... ORPHA:261537
Williams Syndrome
Precocious puberty, Cholelithiasis, Death in early adulthood, Type II diabetes mellitus, Cryptorc... ORPHA:904
Mowat-Wilson Syndrome
Webbed penis, Horizontal eyebrow, Bifid scrotum, Septate vagina, Cryptorchidism, Agenesis of corp... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Highly arched eyebrow, Lateral ventricle dilatation, Bifid scrotum, Septate vagina,... ORPHA:261552
Pallister-Killian Syndrome
Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Crypto... 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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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