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Gene: Sh2b1 MGI:1201407

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Gene Summary

Name:
SH2B adaptor protein 1
Synonyms:
SH2-B,  Sh2bpsm1,  Irip,  SH2-Bb

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Sh2b1em1(IMPC)Ics HET   Early adult 2.50×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Human diseases caused by Sh2b1 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 Sh2b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222

The table below shows human diseases predicted to be associated to Sh2b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism OMIM:307500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Perrault Syndrome 3
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:614129
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... ORPHA:243
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Satoyoshi Syndrome
Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph... ORPHA:3130
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, Ab... OMIM:194072
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Bardet-Biedl Syndrome
Hypogonadism, Short stature, Hypoplasia of penis, Hypoplasia of the ovary, Cryptorchidism, Obesity ORPHA:110
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Essential Fructosuria
Hyperglycemia ORPHA:2056
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Insulin resistance, Hepatic steatosis, Oligo... OMIM:615703
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic ovaries, H... ORPHA:79084
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young OMIM:609812
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... ORPHA:1916
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Oligomenorrhea, Maternal diabetes, Insuli... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Growth Hormone Insensitivity Syndrome
Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia ORPHA:181393
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin resistance, Insulin-resistant diabetes mellitus, Oligomenorrhea OMIM:613877
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Prima... OMIM:612526
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Micropenis, Postnat... OMIM:300067
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... OMIM:273250
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Xp22.3 Microdeletion Syndrome
Decreased fertility, Short stature, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hy... ORPHA:1643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... OMIM:618078
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin resistance, Polycystic ovaries, Insulin-resistant diabetes m... ORPHA:90301
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Leopard Syndrome 1
Aplasia of the ovary, Short stature, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Crypt... OMIM:151100
Familial Renal Glucosuria
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia ORPHA:69076
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diab... ORPHA:79085
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Decreased testicular size, Hypoplasia of the ovary, Intrauterine growth retardatio... OMIM:619321
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Gray matter heterotopia, Polymicrogyria, Hypospadias, Gonadal dysgenesi... OMIM:618820
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothala... ORPHA:2183
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Cirrhosis, Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Insulin r... ORPHA:79083
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus ORPHA:2578
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Miscarriage, Enlarged uterus ORPHA:99927
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Short stature, Abnormality of the ovary, Hypoplasia of the ut... ORPHA:247768
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Ovarian Dysgenesis 5
Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary... OMIM:617690
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... OMIM:615710
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:619737
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Young Syndrome
Azoospermia OMIM:279000
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dysfunction, Diabe... ORPHA:465508
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia ORPHA:2089
Donohue Syndrome
Hyperinsulinemia, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... OMIM:246200
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Biliary cirrhosis, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ... ORPHA:2298
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Polycy... ORPHA:90970
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Insulin resistance OMIM:617885
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Alg9-Cdg
Hypoplasia of the ovary, Hypoplastic nipples, Rhizomelia, Bicornuate uterus ORPHA:79328
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Pol... ORPHA:2348
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Hepatic steatosis, Diabetes mellitus, Male hypogonadism, Hepatomegaly, Crypto... OMIM:615381
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Lead Poisoning
Small for gestational age, Decreased female libido, Infertility, Decreased circulating osteocalci... ORPHA:330015
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Macronodular adrenal hyperplasia OMIM:615954
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diab... ORPHA:435660
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Polycystic... ORPHA:528
Spondylometaphyseal Dysplasia, Axial
Disproportionate short-trunk short stature, Reduced sperm motility, Rhizomelia, Short stature OMIM:602271
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly ORPHA:363400
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Growth delay, Hypogonadism OMIM:618165
Hemochromatosis, Type 4
Cirrhosis, Impotence, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomeg... OMIM:606069
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus OMIM:601076
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... ORPHA:280679
Cole Disease
Hyperglycemia OMIM:615522
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Fanconi-Bickel Syndrome
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... ORPHA:2088
Seckel Syndrome 7
Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation... OMIM:614851
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Abnormality of the scrotum, Microphallus, Bifid scrotum, Small for gestational ag... ORPHA:397590
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:261519
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... OMIM:269880
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
X-Linked Intellectual Disability, Snyder Type
Short stature, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... OMIM:617253
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Short stature, Small for gestational age, Severe intrauterine growth retardation, F... ORPHA:73272
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Weight loss, Hypogonadism, Abnormal testis morphology, Oligospermia, ... ORPHA:85450
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ... OMIM:300845
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia OMIM:609069
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... OMIM:602668
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Fanconi Anemia, Complementation Group O
Short stature, Death in infancy, External genital hypoplasia, Miscarriage, Cryptorchidism, Neonat... OMIM:613390
Schinzel-Giedion Syndrome
Central hypothyroidism, Hypospadias, Annular pancreas, Streak ovary, Failure to thrive in infancy... ORPHA:798
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... ORPHA:96179
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Severe postnatal growth retardation, Hydrocele testis, Anteriorly displace... OMIM:266810
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Gapo Syndrome
Hypogonadism, Short stature, Oligospermia, Growth delay, Dysmenorrhea, Amenorrhea ORPHA:2067
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... OMIM:151660
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi... OMIM:614732
Silver-Russell Syndrome 3
Ambiguous genitalia, Decreased body weight, Short stature, Small for gestational age, Unilateral ... OMIM:616489
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612649
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Placental Insufficiency
Insulin resistance ORPHA:439167
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Growth delay, Hypogonadism OMIM:615234
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Polycysti... ORPHA:79086
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cryptorchidism OMIM:214150
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Rhizomelia, Small for gestational age, Clitoral hypoplasia, Oligospermia, Failure to thrive, Diab... OMIM:614813
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
3-Methylglutaconic Aciduria, Type V
Decreased testicular size, Failure to thrive, Hypospadias, Cryptorchidism, Intrauterine growth re... OMIM:610198
Aarskog-Scott Syndrome
Short stature, Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentratio... OMIM:305400
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, Bifid scrotum, Death in infancy, Bilateral cryptorchidism, Ambiguous genitali... OMIM:300219
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay OMIM:222300
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypopituitarism ORPHA:90065
Mandibuloacral Dysplasia
Hyperinsulinemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Isolated Sedoheptulokinase Deficiency
Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Portal hypertension ORPHA:440713
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... ORPHA:99885
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Diabetic ketoacidosis, Enlarged ovaries, Insulin resistance, Increase... ORPHA:769
Werner Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Secondary amenorrhea, Type II diab... ORPHA:902
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation ORPHA:230
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hepatomegaly ORPHA:134
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Hepatomegaly, Insulin-resistant diabetes mellitus, ... OMIM:248370
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Pol... ORPHA:280365
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Dend Syndrome
Hyperglycemia ORPHA:79134
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... OMIM:137920
Bloom Syndrome
Small for gestational age, Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes m... ORPHA:125
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... ORPHA:69085
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Monosomy 13Q34
Hepatic steatosis, Metrorrhagia, Insulin resistance ORPHA:96168
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... OMIM:146255
Pancreatic Agenesis 2
Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Whipple Disease
Erectile dysfunction, Insulin resistance, Splenomegaly, Hepatomegaly ORPHA:3452
Silver-Russell Syndrome
Decreased testicular size, Insulin resistance, Recurrent hypoglycemia, Cryptorchidism ORPHA:813
8P11.2 Deletion Syndrome
Hypogonadism, Short stature, Azoospermia, Hypoplasia of penis, Growth delay, Cryptorchidism, Hypo... ORPHA:251066
Short Syndrome
Diabetes mellitus, Insulin resistance ORPHA:3163
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Short stature, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea, Postnata... ORPHA:79240
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Growth delay, Abnormality of th... ORPHA:300298
46,Xy Sex Reversal 4
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... OMIM:154230
Acromesomelic Dysplasia 3
Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg... OMIM:609441
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Reduced sperm motility, Infertility OMIM:615444
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... OMIM:209900
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hepat... ORPHA:435651
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... OMIM:241080
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:613327
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Insulin resistance, Cryptorchidism OMIM:616541
Atypical Werner Syndrome
Decreased fertility, Hyperinsulinemia, Abnormal testis morphology, Secondary amenorrhea, Glycosur... ORPHA:79474
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... OMIM:194080
Bloom Syndrome
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... OMIM:210900
Familial Multiple Lipomatosis
Insulin resistance ORPHA:199276
Lumbar Syndrome
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... ORPHA:83628
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Hypoglycem... OMIM:124000
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Hepatomegaly ORPHA:3008
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Breast aplasia ORPHA:90153
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... OMIM:600001
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Decreased response to growth hormone stimulation test, ... ORPHA:96182
Leprechaunism
Hyperinsulinemia, Enlarged ovaries, Insulin resistance, Recurrent infantile hypoglycemia, Postpra... ORPHA:508
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance ORPHA:90154
Scorpion Envenomation
Hyperglycemia, Acute pancreatitis, Priapism, Glycosuria ORPHA:466677
Alström Syndrome
Oligospermia, Decreased circulating T4 concentration, Delayed menarche, Type II diabetes mellitus... ORPHA:64
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Paraganglioma, Pap... OMIM:193300
Gitelman Syndrome
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... ORPHA:358
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... ORPHA:2237
Exstrophy-Epispadias Complex
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... ORPHA:322
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Tetrasomy 9P
Absent gallbladder, Infertility, Intrauterine growth retardation, Lissencephaly, Oligospermia, Pa... ORPHA:3310
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... ORPHA:293987
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Decreased response to growth hormone stimulation test ORPHA:444077
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus,... OMIM:606721
Phocomelia, Schinzel Type
Hypoplasia of penis, Disproportionate short stature, Aplasia of the uterus, Cryptorchidism, Intra... ORPHA:2879
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... OMIM:258040
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Short stature, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovar... OMIM:614527
Von Hippel-Lindau Disease
Pancreatic cysts, Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm ... ORPHA:892
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma ORPHA:730
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic stea... OMIM:220111
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus OMIM:271520
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Short stature, Secondary ameno... ORPHA:99226
Floating-Harbor Syndrome
Precocious puberty, Short stature, Congenital posterior urethral valve, Small for gestational age... ORPHA:2044
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Floating-Harbor Syndrome
Short stature, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cry... OMIM:136140
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Fanconi Anemia, Complementation Group L
Growth delay, Aplasia of the uterus, Micropenis, Intrauterine growth retardation OMIM:614083
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Bifid uterus, Hypospadias, Adrenal gland dys... OMIM:236680
Norrie Disease
Cachexia, Uterine rupture, Erectile dysfunction, Failure to thrive, Delayed puberty, Diabetes mel... ORPHA:649
Wolf-Hirschhorn Syndrome
Precocious puberty, Short stature, Small for gestational age, Aplasia of the uterus, Hypospadias,... OMIM:194190
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Delayed menarche ORPHA:740
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... ORPHA:79318
Neu-Laxova Syndrome 1
Lissencephaly, Bifid uterus, Stillbirth, Cryptorchidism, Neonatal death, Intrauterine growth reta... OMIM:256520
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus, Short stature, Death in infancy OMIM:274000
Townes-Brocks Syndrome 1
Hypothyroidism, Bifid scrotum, Small for gestational age, Rectoperineal fistula, Bifid uterus, Hy... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Short stature, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Disproportionate short statur... OMIM:276820
Coffin-Siris Syndrome 1
Short stature, Aplasia of the uterus, Hypospadias, Cryptorchidism, Intrauterine growth retardatio... OMIM:135900
Okamoto Syndrome
Bifid uterus, Severe postnatal growth retardation ORPHA:2729
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Mesomelic/rhizomelic limb shortening, Rhizomelia, Labial hypoplasia, Aplasia of the upper vagina,... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Short stature, Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse ORPHA:286
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222

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 Sh2b1

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 Sh2b1.

No publications found that use IMPC mice or data for Sh2b1.

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MGI Allele Allele Type Produced
Sh2b1em1(IMPC)Ics Deletion Mice
Sh2b1tm380622(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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