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Gene: Csnk1g2 MGI:1920014

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Gene Summary

Name:
casein kinase 1, gamma 2
Synonyms:
2810429I12Rik

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
increased circulating phosphate level Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 2.83×10-05
increased mean corpuscular volume Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 7.67×10-15
persistence of hyaloid vascular system Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 1.77×10-06
increased circulating glucose level Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 3.66×10-08
increased cardiac muscle contractility Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 2.62×10-05
abnormal lens morphology Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 1.56×10-06
decreased total retina thickness Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 1.24×10-05
abnormal retina vasculature morphology Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 2.06×10-05
abnormal retina morphology Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 4.94×10-05
abnormal retina blood vessel morphology Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 6.74×10-05
increased pulmonary respiratory rate Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 9.46×10-05
increased heart rate variability Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 4.52×10-07
increased circulating potassium level Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 4.52×10-06
increased circulating aspartate transaminase level Csnk1g2tm1b(EUCOMM)Wtsi HOM Early adult 1.61×10-05
abnormal auditory brainstem response Csnk1g2tm1b(EUCOMM)Wtsi HOM   Early adult 5.26×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

14 Images

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Csnk1g2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Csnk1g2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:261534
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Ventricular arrhythmia, Dyspnea, Abnormal left ventricular funct... ORPHA:36913
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Hypertensi... OMIM:617021
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... ORPHA:45452
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T... ORPHA:264675
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos... OMIM:127000
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Hyperkalemia, Ventricular tachycard... ORPHA:423
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract OMIM:146200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Sensorineural hearing impairment, Angioid streaks of the fundus,... OMIM:239000
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellit... OMIM:520000
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... OMIM:616414
Autosomal Dominant Hypocalcemia
Congestive heart failure, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnes... ORPHA:428
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... ORPHA:94093
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... OMIM:615703
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop... ORPHA:2611
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... ORPHA:36238
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... ORPHA:180229
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity ORPHA:3055
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive... OMIM:201100
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... OMIM:602668
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... ORPHA:100083
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo... OMIM:211900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Developmental cataract, Anemia, Retinal calcification, Hyperphosphatemia, Hypocalcem... ORPHA:93325
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respiratory insufficiency... OMIM:614299
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Leukocytosis, Elevated... ORPHA:340
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... OMIM:300946
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Pigmentary... ORPHA:79264
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Cataract, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalc... ORPHA:94089
Joubert Syndrome 9
Cataract, Retinal dystrophy, Episodic tachypnea, Apnea, Astigmatism OMIM:612285
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract OMIM:612462
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... ORPHA:2169
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Elevated circulating creatine kinase co... ORPHA:26793
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Cuppe... OMIM:617052
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failu... OMIM:615838
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di... ORPHA:178320
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Episodic tachypnea, Hyperammonemia, Elevated circulating ... OMIM:615160
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, T... ORPHA:71275
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Hypocapnia, ... ORPHA:466650
Osteopetrosis, Autosomal Recessive 9
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... OMIM:612561
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Apnea, Hypoglycemia OMIM:240200
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... ORPHA:2959
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Mitral regurgitation, Increased m... ORPHA:261250
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:103580
Joubert Syndrome 23
Coloboma, Sensorineural hearing impairment, Tachypnea, Apnea OMIM:616490
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... OMIM:620085
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... ORPHA:3299
Propionic Acidemia
Pancytopenia, Apnea, Hypoglycemia, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Anemia, Card... OMIM:606054
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, External ear malformation, Hyperphosphatemia,... ORPHA:2323
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Pituitary Gigantism
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... ORPHA:99725
Joubert Syndrome 30
Tachypnea, Retinal dystrophy, Apnea OMIM:617622
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... ORPHA:79126
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Joubert Syndrome 7
Central apnea, Retinal dystrophy, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Sudden cardiac death... OMIM:201475
Methionine Malabsorption Syndrome
Tachypnea, Blue irides, Positive ferric chloride test OMIM:250900
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Cystinosis
Corneal opacity, Portal hypertension, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Re... ORPHA:213
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures OMIM:241410
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... ORPHA:85282
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature ORPHA:3000
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Fanconi Renotubular Syndrome 5
Hypertension, Decreased DLCO, Glycosuria, Hypophosphatemia, Hypophosphatemic rickets, Emphysema OMIM:618913
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Optic atrophy, Hyperkalemia, Hypertension, Increased circulating c... OMIM:617595
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Wheezing, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Cough... ORPHA:171876
Colchicine Poisoning
Hyponatremia, Respiratory distress, Congestive heart failure, Leukocytosis, Myocarditis, Hypovole... ORPHA:31824
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia ORPHA:57
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Cataract, Dyspnea, Hyperphosphatemia, Conjunctivitis, Hypocalc... ORPHA:79444
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Blue irides, Hearing impairment OMIM:101800
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy... OMIM:615986
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Cataract, Band keratopathy, Dyspnea, Sensorineural hearing imp... ORPHA:79443
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... ORPHA:101016
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Hypsarrhythmia OMIM:618856
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Senso... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Senso... ORPHA:529799
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypovolemic... ORPHA:173
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level OMIM:610600
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Normochromic anemia, E... OMIM:614857
Joubert Syndrome 3
Central apnea, Retinal dystrophy, Episodic tachypnea, Pigmentary retinopathy, Low-set ears, Neona... OMIM:608629
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia ORPHA:199296
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemi... ORPHA:348
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Episodic tachypnea, Apneic episodes in infancy, Low-set ears, Chorioret... ORPHA:163961
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... ORPHA:71529
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556037
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... OMIM:602088
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... OMIM:300148
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... OMIM:618419
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... ORPHA:79102
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Bardet-Biedl Syndrome 16
Hypogonadism, External genital hypoplasia, Obesity OMIM:615993
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension ORPHA:556030
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Tachypnea, ... ORPHA:20
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia OMIM:241520
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Aganglionic megacolon, Retinal dystrophy, Apnea, Tachypnea, Ch... ORPHA:2318
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level OMIM:218030
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Biotinidase Deficiency
Apnea, Splenomegaly, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Hyperammonemia, ... OMIM:253260
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... OMIM:221900
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Hyperkalemia, Hypertension, Astigmatism, Glycosuria,... ORPHA:97362
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... OMIM:127550
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... ORPHA:90790
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:177735
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... ORPHA:134
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest OMIM:620203
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia ORPHA:79242
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Mirage Syndrome
Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Intracranial hemorrhage, Aspiration... OMIM:617053
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Gastrointestinal hemorrhage, Pneumonia, Abnormal ret... ORPHA:247691
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... OMIM:235200
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Elevated circulating creatine kinase concent... ORPHA:36234
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Postprandial hype... ORPHA:681
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of the uret... ORPHA:2377
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hypotension OMIM:264350
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Retrobulbar optic neuritis, Sensorineural hearing impairment, Hyp... OMIM:619737
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia, Anemia OMIM:239200
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... OMIM:612562
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... ORPHA:860
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Hypoglycemia, Hyperc... ORPHA:199299
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Diabetes mellitus, Cardiac conduction abnormality, Splen... ORPHA:699
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cornea morph... ORPHA:411629
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Tachypnea, Telangiecta... OMIM:615934
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Liddle Syndrome
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia ORPHA:526
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Necrotizing Enterocolitis
Hyponatremia, Shock, Apnea, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose... ORPHA:391673
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Decreased nerve conduction velocity, Tachypnea, Respiratory failure, Inspiratory stridor, Ventila... OMIM:604320
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Tachypnea, Hypertension, Retinal infarction, Pulmonary arterial hypertension, My... OMIM:613834
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Alport Syndrome 3A, Autosomal Dominant
Sensorineural hearing impairment, Hypertension, Hypophosphatemia, Azotemia, Anterior polar catara... OMIM:104200
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Decreased body weight, Abnormality of... ORPHA:2298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... OMIM:615751
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Double Outlet Right Ventricle
Tachycardia, Abnormality of cartilage of external ear, Tachypnea, Heart murmur, Hypocalcemia, Pul... ORPHA:3426
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... OMIM:614643
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... ORPHA:427
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Citrullinemia Type I
Elevated plasma citrulline, Tachypnea, Hyperammonemia ORPHA:247525
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... OMIM:608885
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... ORPHA:95409
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Large for ges... ORPHA:324575
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Optic atrophy, Pigmentary retinopathy, Hypertensio... ORPHA:90321
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Abnormal circulating calcium concentration, Increased pulmonary vascul... ORPHA:60025
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Cryptorchidism, Mildly elevated creatine kinase, Delayed puberty ORPHA:486815
Alg6-Cdg
Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and... ORPHA:79320
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Cata... ORPHA:79345
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... OMIM:619743
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Atypical Rett Syndrome
EEG abnormality, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Robinow Syndrome
Small scrotum, Small for gestational age, External genital hypoplasia, Cryptorchidism, Micropenis... ORPHA:97360
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... ORPHA:276608
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... OMIM:618278
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Type I di... ORPHA:276580
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test, Ove... ORPHA:457240
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... ORPHA:293978
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615996
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension OMIM:613320
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Asthma, Leukocoria, Thicke... ORPHA:2714
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... OMIM:265120
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... ORPHA:293964
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... ORPHA:2088
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dyspnea, Hyperinsulinemia, Developmental cataract, Anemi... OMIM:620185
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Abnormal pattern of ... ORPHA:3008
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... ORPHA:97289
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Joubert Syndrome 1
Central apnea, Optic disc pallor, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, Ret... OMIM:213300
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Respiratory failure, Inter... ORPHA:330021
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Serotonin Syndrome
Tachycardia, Tachypnea, Hypertension, Hypotension, Abnormality of the autonomic nervous system, M... ORPHA:43116
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty acid level, H... ORPHA:276556
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... OMIM:227810
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Castleman Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Anemia, Decreased mean corpuscula... ORPHA:160
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
Autosomal Recessive Malignant Osteopetrosis
Apnea, Splenomegaly, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Pulmonary arterial hyperte... ORPHA:667
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... ORPHA:411634
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Addison Disease
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Thiamine-r... ORPHA:85138
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Retinal dystrophy, Apnea, Subretinal deposits, Tachypnea, Abno... ORPHA:397715
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Splenomegaly, Retinal pigment epithelial mottling, Corneal cryst... OMIM:219800
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... ORPHA:65759
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Tin... ORPHA:231625
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Episodic tachypnea, Low-set ears ORPHA:2872
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Joubert Syndrome 2
Central apnea, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, Low-set ears, Choriore... OMIM:608091
Arima Syndrome
Retinal dystrophy, Dyspnea, Tachypnea, Optic atrophy, Hypertension, Chorioretinal coloboma, Anemia OMIM:243910
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia OMIM:605231
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Hereditary Fructose Intolerance
Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations OMIM:188580
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Pneumonia, Myocarditis, L... ORPHA:544482
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Hypokalemia, Anemia OMIM:611489
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level ORPHA:320
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Obesity ORPHA:3409
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Joubert Syndrome
Apnea, Episodic tachypnea, Aganglionic megacolon, Abnormal pattern of respiration, Low-set ears, ... ORPHA:475
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Chorioretinal hypopigmentati... ORPHA:415
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Portal hypertension, Tachypnea, Respiratory insufficiency, Respirator... OMIM:613658
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus ORPHA:403
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Hypertension, Hypokalemia, Palpitations, Tinnitus, Decreased circulating renin level ORPHA:231580
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... ORPHA:79330
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... ORPHA:3157
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Cockayne Syndrome A
Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... OMIM:216400
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypertension, Hypokalemia, Hypoc... OMIM:617913
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Vitamin D-Dependent Rickets, Type 2A
Hearing impairment, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus ORPHA:404
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Fanconi Renotubular Syndrome 2
Glycosuria, Hypophosphatemia OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... ORPHA:649
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Hypoammonemia, Chorio... ORPHA:534
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Apnea, Abnormal pinna morphology, Optic nerve hypoplasia, Hypoglycemia, Low-se... OMIM:609069
Ectopic Aldosterone-Producing Tumor
Epistaxis, Hypertension, Hypokalemia, Tinnitus, Decreased circulating renin level ORPHA:231632
Bartter Syndrome, Type 3
Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ... OMIM:607364
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II d... ORPHA:96263
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Retinal coloboma, Rod-cone dystrophy, Neonatal breathing dysre... OMIM:610188
Noonan Syndrome 8
Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Large for gestational age OMIM:615355
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Mildly elevated creatine kinase, Large for gestational age ORPHA:169189
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hearing impairment, Hypophosphatemia OMIM:156400
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:177200
Short Syndrome
Rieger anomaly, Cataract, Sensorineural hearing impairment, Insulin resistance, Insulin-resistant... OMIM:269880
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Tinnitus ORPHA:251274
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity OMIM:618857
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia OMIM:613239
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth OMIM:605309
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Hypocalcemi... ORPHA:358
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia... ORPHA:555874
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Patent ductus arteriosus, Obesity, Proportionate tall stature, Neuroendocrine neo... ORPHA:404443
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atrioventricular blo... ORPHA:369929
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Opsismodysplasia
Respiratory insufficiency, Posteriorly rotated ears, Low-set ears, Hypophosphatemia OMIM:258480
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Hypokalemia, Abdominal obesity, Oli... OMIM:219090
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... ORPHA:99826
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Central hypoventilation, Hyperlipidemia, Sensorineural hearing imp... ORPHA:293987
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Dent Disease 1
Glycosuria, Hypophosphatemia OMIM:300009
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... ORPHA:3337
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Dend Syndrome
Hyperglycemia, Thickened ears, Elevated hemoglobin A1c, Hypsarrhythmia ORPHA:79134
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Bilateral sensorineural hearing impairment OMIM:602722
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:264580
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Hypokalemia, Second degree atrioventricular block, Pulmonary arterial hypertension,... OMIM:615474
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cataract, Hypoglycemia, EEG abnormality, Recurrent hypoglycemia, Hyperglycemia,... OMIM:124000
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... OMIM:229600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:613677
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Irregular... ORPHA:79240
Goodpasture Syndrome
Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea, I... OMIM:233450
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Dent Disease
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria ORPHA:1652
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... OMIM:613095
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... OMIM:609136
East Syndrome
Hypokalemia, Sensorineural hearing impairment, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Raine Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding ear, Lo... OMIM:259775
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Low-set ears, Postprandial hyperglycemia, Hyperglycemia, ... OMIM:246200
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Sotos Syndrome
Cryptorchidism, Patent ductus arteriosus, Increased body weight, Overgrowth, Tall stature OMIM:117550
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hypochromic microcytic anemia, Postprandial hyperglycemia... ORPHA:440713
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Tachypnea, Hyperammonemia, Hypertension, Mitral regurgitation, Low-set ears, Hyperg... OMIM:220111
Osteootohepatoenteric Syndrome
Asthma, Hypokalemia, Increased serum bile acid concentration, Anemia, Hearing impairment OMIM:619377
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni... ORPHA:3138
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... OMIM:209900
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Retinopathy... ORPHA:99885
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos OMIM:615989
Somatomammotropinoma
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... ORPHA:314769
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Sensorineural hearing impairment, Hypertension, Hypokalemia, Increased circulating renin level, H... OMIM:612780
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Low-... OMIM:170390
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Apnea, Episodic tachypnea, Low-set, posteriorly rotated ears ORPHA:2754
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea, Central retinal vessel vascular tortuosity, Protruding ear, Conductive hearing ... ORPHA:2751
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia, Overweight, Obesity, Cholelithiasis, Pancreatitis ORPHA:69663
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:881
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Telangiectasia of the skin, Diabetes m... ORPHA:79474
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... ORPHA:412
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:99880
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Acromelic Frontonasal Dysostosis
Upper airway obstruction, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Parathyroid Carcinoma
Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:143
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Double Outlet Left Ventricle
Tachypnea, Systolic heart murmur, Abnormal right ventricular function ORPHA:3427
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Disproportionate tall stature, Abnormality of the Leydig cells, Test... ORPHA:3063
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia OMIM:618426
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... OMIM:300166
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Bicarbonaturia, Hypovolemia, Coloboma, Hypokalemia, Glycosuria ORPHA:47159
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Leprechaunism
Insulin resistance, Hyperinsulinemia, Protruding ear, Hypokalemia, Increased circulating renin le... ORPHA:508
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni... OMIM:619539
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Tracheomalacia, Congestive... ORPHA:444077
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia OMIM:613090
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... ORPHA:289176
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H... ORPHA:209902
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism OMIM:614231
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia ORPHA:89936
Bartter Syndrome Type 4
Hyponatremia, Protruding ear, Hypochloremia, Hypertension, Hypokalemia, Increased circulating ren... ORPHA:89938
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ... ORPHA:3384
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypopla... OMIM:264090
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circula... ORPHA:90041
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... OMIM:601678
Distal Renal Tubular Acidosis
Hemolytic anemia, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairm... ORPHA:18
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... OMIM:241200
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe... OMIM:181450
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia OMIM:602522
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Reduced thyroxi... ORPHA:79318
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Pulmonic stenosis, Glycosuria OMIM:600001
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Ap... ORPHA:286
Hellp Syndrome
Increased body weight ORPHA:244242

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 Csnk1g2

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 Csnk1g2.

No publications found that use IMPC mice or data for Csnk1g2.

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
Csnk1g2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Csnk1g2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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