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Gene: Adcy3 MGI:99675

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Gene Summary

Name:
adenylate cyclase 3
Synonyms:
AC3,  ACIII

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
preweaning lethality, incomplete penetrance Adcy3tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased hemoglobin content Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.77×10-05
increased hematocrit Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.74×10-05
increased total body fat amount Adcy3tm1a(EUCOMM)Wtsi HET Early adult 8.49×10-05
decreased lean body mass Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Adcy3tm1a(EUCOMM)Wtsi
narrow eye opening, eye, HET, Female, WTSI
Adcy3tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Adcy3tm1a(EUCOMM)Wtsi
eye, abnormal eye morphology, corneal opacity, eye opacity, HET, Female, WTSI

Human diseases caused by Adcy3 mutations

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

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

The table below shows human diseases associated to Adcy3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia,... OMIM:617885

The table below shows human diseases predicted to be associated to Adcy3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hyp... OMIM:610628
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Musk, Inability To Smell
Anosmia OMIM:254150
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy... OMIM:146110
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... OMIM:614858
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, P... OMIM:612702
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreas... OMIM:614897
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontal lobe dementia, Inappropriate laughter, Irritability, Disin... OMIM:600274
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Anosmia, Decreased serum testosterone concentration, De... OMIM:308700
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to ... OMIM:616030
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Micropenis, Hyposmia OMIM:614838
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... OMIM:244200
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Absence of pubertal development OMIM:615267
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism,... OMIM:614837
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuc... OMIM:308750
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gona... OMIM:618841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Azoospermia, Elevated circulating pristanic acid conce... OMIM:613724
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Cryptorchidism, Agenesis of corpus callosum, Hypogonadotropic hypogonad... OMIM:147950
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Mi... OMIM:614880
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism OMIM:612370
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Aural Atresia, Congenital
Hyposmia OMIM:607842
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Depressed nasal bridge, Hypogonadism, Short nasal septum, Short nose OMIM:302950
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, External genital hypoplasia, Renal insufficiency, Hydron... OMIM:615996
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Bardet-Biedl Syndrome 17
Anosmia, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis,... OMIM:615994
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Kallmann Syndrome
Anosmia, Renal agenesis, Abnormal morphology of female internal genitalia, Decreased testicular s... ORPHA:478
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia,... OMIM:617885
Huntington Disease
Mental deterioration, Memory impairment, Depression, Oral-pharyngeal dysphagia, Hostility, Abnorm... ORPHA:399
Morbid Obesity And Spermatogenic Failure
Obesity, Azoospermia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diab... OMIM:615703
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Parosmia, Confusion, Abnormal eating behavior, ... ORPHA:33543
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary ameno... OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Anosmia, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... OMIM:614842
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Bardet-Biedl Syndrome 5
Micropenis, Obesity, External genital hypoplasia, Hypogonadism OMIM:615983
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Exter... OMIM:615993
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of... OMIM:619755
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Hypogonadism, Decreased testicular size, Obesity, P... OMIM:614962
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Bulbous nose, Cryptorchidism, Truncal... ORPHA:261483
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia... OMIM:300539
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormalit... ORPHA:1135
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose, Facial palsy ORPHA:2316
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Hypoplasia of... ORPHA:1295
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of th... OMIM:615982
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Abnormal eating behavior, Emotional lability, Abnor... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Abnormality of circulating cortisol lev... ORPHA:320
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... OMIM:218030
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Elevated circu... OMIM:617872
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Septo-Optic Dysplasia Spectrum
Anosmia, Obesity, Cryptorchidism, Agenesis of corpus callosum, Maternal diabetes, Anterior pituit... ORPHA:3157
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Mehmo Syndrome
Male hypogonadism, Broad nasal tip, Decreased response to growth hormone stimulation test, Obesit... OMIM:300148
Bardet-Biedl Syndrome 7
Hypogonadism, Depressed nasal bridge, Obesity OMIM:615984
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology ORPHA:2233
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Short attention span, Hyperactivity ORPHA:411515
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis OMIM:618449
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Abnormality of the s... OMIM:616113
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Hyperactivity ORPHA:85288
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia, Elevated circulating phytanic acid concentration OMIM:614879
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Kufor-Rakeb Syndrome
Anosmia, Aggressive behavior, Dementia, Bradykinesia, Dysphagia, Hyposmia OMIM:606693
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias, Renal dysplasia OMIM:615985
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin lev... ORPHA:231632
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Memory impairment, Cognitive impairment ORPHA:369873
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Male infertility, Chronic rhinitis OMIM:244400
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating ... OMIM:177200
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Hyperostosis Cranialis Interna
Anosmia, Facial palsy, Optic atrophy, Hyposmia OMIM:144755
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
14Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Polyphagia, Attention deficit hyperactivity disorder, ... ORPHA:261229
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Reduced social reciprocity ORPHA:329249
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Short attention span, Restless legs, Reduced social reciprocit... ORPHA:2828
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology, Urinar... OMIM:243000
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Increased urinary potassium, Decreased circulati... ORPHA:231625
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, H... ORPHA:231580
Refsum Disease, Classic
Anosmia, Elevated circulating phytanic acid concentration, Abnormal renal physiology OMIM:266500
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Renal agenesis, Bilateral cryptorchidism, Decreased testicular size, Hypogonadot... ORPHA:2326
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Intellectual Developmental Disorder, Autosomal Dominant 72
Bulbous nose, Attention deficit hyperactivity disorder, Polyphagia, Overfriendliness OMIM:620439
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... ORPHA:251066
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Broad nasal tip, Cryptorchidism, Truncal obesity ORPHA:3459
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus, External genital hypoplasia OMIM:615981
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Bulbous nose, Decreased serum testosterone concentration... OMIM:300869
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Lateral ventricle dilatation, Disinhibition, Polyphagia, Frontotemporal dement... OMIM:607485
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Chromosome 22Q13 Duplication Syndrome
Anteverted nares, Short attention span, Emotional lability, Narrow nasal ridge, Attention deficit... OMIM:615538
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Hypospadias OMIM:619718
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Hypogonadism, External genital hypoplasia, Cryptorchidism, Absent nares, Hypop... ORPHA:2250
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Nocturia ORPHA:2073
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, Frontalis muscle weakness OMIM:210745
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
46,Xy Sex Reversal 4
Depressed nasal ridge, Gonadal dysgenesis, Elevated circulating creatinine concentration, Promine... OMIM:154230
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy OMIM:601152
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Obesity, Enuresis, Short nose OMIM:613670
Intellectual Developmental Disorder, X-Linked 91
Obesity, Short nose OMIM:300577
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Truncal obesity, Decreased nerve conduction velocity ORPHA:2928
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Waardenburg Syndrome, Type 4C
Hypogonadism, Anosmia, Aganglionic megacolon, Cryptorchidism OMIM:613266
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, F... ORPHA:35878
Combined Oxidative Phosphorylation Deficiency 54
Periventricular nodular heterotopia, Obesity, Dysplastic corpus callosum, Primary amenorrhea, Opt... OMIM:619737
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, Delayed puberty ORPHA:2139
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes ORPHA:3055
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Primary hyperaldosteronism, Nephrolithiasis OMIM:615474
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Acute kidney injury, Impotence, Elevated circulating creatinine concentration, Unilat... ORPHA:49041
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora... OMIM:603457
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Wide nasal bridge, Self-mutilation, Polyphagia, Aggressive behavior OMIM:616521
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:363741
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat... ORPHA:275555
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Depressed nasal ridge, Bulbous nose, Inappropriate laughter, Prominent n... OMIM:156200
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevat... OMIM:612462
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Abnormality of the urinary system, Anosmia, Aplasia/Hypop... ORPHA:2162
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Polymicrogyria, Anteverted nares, Polyphagia, Shor... OMIM:618774
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Tubulointerstitial nephr... OMIM:616629
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Abnormal temper tantrums, Bulbous nose, Anteverted nares, Polyphagia ORPHA:171829
Temple Syndrome
Precocious puberty, Depressed nasal bridge, Maturity-onset diabetes of the young, Decreased testi... OMIM:616222
Refsum Disease
Anosmia, Renal insufficiency ORPHA:773
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Prominent nasal bridge, Vesicoureteral reflux, H... ORPHA:261222
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections OMIM:300209
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... ORPHA:168782
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Wagro Syndrome
Low frustration tolerance, Emotional lability, Reduced social reciprocity, Polyphagia, Aggressive... OMIM:612469
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic o... ORPHA:110
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Bardet-Biedl Syndrome 9
Irregular menstruation, Obesity, Renal insufficiency, Truncal obesity OMIM:615986
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Obesity, Prominent nasal bridge, Cryptorchidism, Hypopla... ORPHA:3409
Trisomy 18P
Wide nasal bridge, Polyphagia, Attention deficit hyperactivity disorder, Underdeveloped nasal alae ORPHA:1715
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, U... ORPHA:320391
Meningioma
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Urinary incon... ORPHA:2495
11P15.4 Microduplication Syndrome
Obesity, Anteverted nares ORPHA:300305
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
48,Xxyy Syndrome
Decreased testicular size, Obesity, Azoospermia, Tall stature, Cryptorchidism, Type II diabetes m... ORPHA:10
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276556
Man1B1-Cdg
Wide nasal bridge, Prominent nose, Underdeveloped nasolabial fold, Periventricular heterotopia, P... ORPHA:397941
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... ORPHA:2235
Insulinoma
Transient global amnesia, Lethargy, Polyphagia ORPHA:97279
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276575
Mehmo Syndrome
Obesity, External genital hypoplasia, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m... ORPHA:85282
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276580
Acute Adrenal Insufficiency
Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insu... ORPHA:95409
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Polymicrogyria, Hypogonadism, Decreased testicular size, Bulbous nose, Cr... OMIM:300354
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sense of smell, Neph... ORPHA:91412
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... ORPHA:230
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Small for gestational age, Abnormal renal corticom... OMIM:616733
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Broad nasal tip, Hypogonadism, Decreased testicular size, Anteverted nare... OMIM:300882
Morm Syndrome
Micropenis, Truncal obesity, Abnormality of the kidney ORPHA:75858
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low ur... OMIM:103580
Lead Poisoning
Chronic kidney disease, Decreased male libido, Decreased HDL cholesterol concentration, Abnormali... ORPHA:330015
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Obesity, Tall stature, Eunuchoid habitus, Crypto... ORPHA:91
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Abnormality of the kidney, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Recurrent sinusitis, Male infertility, Chronic rhinitis OMIM:617091
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Ciliary Dyskinesia, Primary, 26
Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility OMIM:615500
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Depression, Low frustration tolerance, Agitation, Impulsivity, Dementia, Br... ORPHA:411602
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis OMIM:301900
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Wide nose ORPHA:276630
Solitary Fibrous Tumor
Hypoinsulinemia, Weight loss, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Monosomy 13Q34
Epistaxis, Broad nasal tip, Obesity, Prominent nose, Prominent nasal bridge, Metrorrhagia, Hyperc... ORPHA:96168
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Short attention span, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:444002
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Addison Disease
Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Renal sa... ORPHA:85138
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Joubert Syndrome 10
Wide nasal bridge, Polyphagia, Frequent temper tantrums OMIM:300804
Superficial Siderosis
Anosmia, Partial anosmia, Memory impairment, Dysgyria, Cognitive impairment, Dementia ORPHA:247245
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... ORPHA:556037
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Obesity, Increased serum te... ORPHA:247768
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Cryptorchidism, Type II diabetes mellitus, Displacement of the uret... ORPHA:2377
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldosterone level, E... ORPHA:556030
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
48,Xxxy Syndrome
Small scrotum, Depressed nasal ridge, Hypogonadism, Decreased testicular size, Azoospermia, Obesi... ORPHA:96263
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Hypocystinemia OMIM:617744
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nasal congestion, Polymicrogyria, Bulbous nose, Elevated circulating creatinine concentration, De... OMIM:608836
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Abnormality of the sense of smell, Agenesis o... ORPHA:2189
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Wide nose ORPHA:254531
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Depressed nasal bridge, Maturity-onset diabetes of the young, Obesity, Anteve... ORPHA:96184
Luscan-Lumish Syndrome
Long nose, Polyphagia, Aggressive behavior, Excessive shyness OMIM:616831
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Obesity ORPHA:88643
Charge Syndrome
Choanal atresia, Anosmia, Depressed nasal bridge, Optic atrophy, Bifid scrotum, Abnormal morpholo... ORPHA:138
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Decreased circ... OMIM:608104
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Obesity, Anteverted nares, Short colume... ORPHA:171839
Pediatric-Onset Graves Disease
Polydipsia, Emotional lability, Irritability, Polyphagia, Hyperactivity ORPHA:525731
Progressive Supranuclear Palsy
Memory impairment, Depression, Emotional lability, Irritability, Cognitive impairment, Dementia, ... ORPHA:683
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp... OMIM:203400
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b... OMIM:619927
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Immotile sperm, Reduced sperm motility OMIM:612650
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Cryptorchidism... OMIM:609136
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Nasal congestion, Reduced sperm motility OMIM:615434
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypogonadism, Truncal obesity, Concave nasal ridg... ORPHA:73272
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Obesity, Decreased female libido, Ameno... ORPHA:91355
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility OMIM:612649
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,... ORPHA:189427
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Ciliary Dyskinesia, Primary, 18
Rhinitis, Immotile sperm, Recurrent sinusitis, Male infertility OMIM:614874
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Prominent nasal bridge, Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Con... ORPHA:251028
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Hypotonia-Cystinuria Syndrome
Depressed nasal bridge, Polyphagia OMIM:606407
Rafiq Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Prominent nose, Underdeveloped nasolabial fold, Truncal... OMIM:614202
Temple Syndrome
Polyphagia ORPHA:254516
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Chung-Jansen Syndrome
Obesity, Anteverted nares, Cryptorchidism, Short nose OMIM:617991
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren... OMIM:615989
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Primary amenorrhea, P... OMIM:176270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... OMIM:162000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent sinusitis, Reduced sperm motility, Infertility, Rhinitis OMIM:615444
Hsd10 Disease
Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
Idiopathic Intracranial Hypertension
Obesity, Papilledema, Focal sensory seizure with olfactory features ORPHA:238624
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Bruxism, Anteverted nares, Redu... OMIM:615873
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Wide nasal bridge, Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chron... OMIM:614376
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Narrow nasal bridge, Polyphagia, Lethargy, Skin-picking, Cognitive impa... ORPHA:398069
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... ORPHA:2298
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Abnormal circulating aldosterone, Glucocortocoid-insensitive primar... ORPHA:171876
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Moebius Syndrome
Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell ORPHA:570
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hypokalemia, Oligo... OMIM:219090
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Clark-Baraitser Syndrome
Depressed nasal bridge, Obesity, Anteverted nares, Low hanging columella, Short nose OMIM:617752
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Agenesis of corpus callosum OMIM:619111
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Adiposis Dolorosa
Obesity OMIM:103200
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Bulbous nose, Obesity, Macroorchidism OMIM:300238
Summitt Syndrome
Depressed nasal ridge, Obesity, Tall stature, Wide nose ORPHA:3210
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Abnormali... ORPHA:633
Angelman Syndrome
Self-injurious behavior, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Aggressive ... ORPHA:72
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Organic aciduria, Bulbous nose, Obesity, Prominent nose, Underdeveloped n... OMIM:620191
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Hypogonadism, Decreased testicular size, External genital hypoplasia, Bulbous no... ORPHA:3041
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Obesity, Anteverted nares, Congenital hypothyroidism, Cryptorchidism, Hyp... OMIM:614613
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:603233
Non-Acquired Isolated Growth Hormone Deficiency
Depressed nasal bridge, Microphallus, Delayed puberty, Abdominal obesity, Anterior hypopituitarism ORPHA:631
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Obesity, Agenesis of corpus callosum, Urinary incontinence... OMIM:604360
Gorlin Syndrome
Wide nasal bridge, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hypogonadi... ORPHA:377
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Renal hypoplasia, Obesity, Anteverted nares, Vesicoureteral reflux, Crypto... ORPHA:464288
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Congenital hypothyroidism, Obesity ORPHA:352530
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Ele... ORPHA:91547
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Anteverted nares ORPHA:480907
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Atkin-Flaitz Syndrome
Obesity, Broad nasal tip, Macroorchidism, Anteverted nares ORPHA:1193
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depressed nasal bridge, Recurrent upper respiratory tract infections, De... ORPHA:293987
Rhizomelic Limb Shortening With Dysmorphic Features
Wide nasal bridge, Obesity, Stage 1 chronic kidney disease OMIM:618821
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Familial Hypoaldosteronism
Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Decreased ci... ORPHA:427
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Ciliary Dyskinesia, Primary, 15
Infertility, Nasal polyposis, Immotile sperm OMIM:613808
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Short nose ORPHA:2429
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Macroorchidism OMIM:300055
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors... OMIM:120330
Microtriplication 11Q24.1
Obesity, Hyperlipidemia, Wide nose ORPHA:289522
Adnp Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Abnormal temper tantrums, O... ORPHA:404448
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity, Convex nasal ridge, Anteverted nares ORPHA:1035
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Hypoplas... ORPHA:127
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Joubert Syndrome 37
Wide nasal bridge, Decreased testicular size, Obesity, Anteverted nares, Cryptorchidism, Hydronep... OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell, Renal hypoplasia/aplasia ORPHA:958
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Weight loss, Abnormality of the anter... ORPHA:449395
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l... ORPHA:739
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Wagr Syndrome
Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Clark-Baraitser syndrome
Broad nasal tip, Tall stature, Obesity, Anteverted nares, Macroorchidism OMIM:300602
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Prominent nose, Abnormality of the kidney, Convex nasal ridge, Low ha... OMIM:610543
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Charge Syndrome
Cryptorchidism, Hypoparathyroidism, Choanal atresia, Parathyroid hypoplasia, Renal agenesis, Apla... OMIM:214800
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sense of smell, Hypoplasia of penis... ORPHA:284160
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Megalencephaly
Wide nasal bridge, Macroorchidism, Long penis, Truncal obesity ORPHA:2477
15Q24 Microdeletion Syndrome
Wide nasal base, Depressed nasal bridge, Failure to thrive, Microphallus, Decreased response to g... ORPHA:94065
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Smith-Magenis Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Failure to thrive in infancy, Abno... ORPHA:819
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Obesity, Proteinuria, Papilledema, Hypercholesterole... OMIM:619471
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Alstrom Syndrome
Irregular menstruation, Nephritis, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol... OMIM:203800
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency, Increased total bilirubin ORPHA:890
Leopard Syndrome 1
Unilateral renal agenesis, Depressed nasal ridge, Delayed menarche, Cryptorchidism, Aplasia of th... OMIM:151100
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Progressive psychomotor deterioration ORPHA:251004
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell, Hydronephrosis, Male pseudohermaphrodi... ORPHA:140
Retinal Dystrophy And Obesity
Obesity, Peripapillary atrophy OMIM:616188
Gangliocytoma
Dementia, Polyphagia ORPHA:251937
Bardet-Biedl Syndrome 3
External genital hypoplasia, Renal hypoplasia, Obesity OMIM:600151
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Pseudohypoparathyroidism Type 1C
Depressed nasal bridge, Depression, Confusion, Irritability, Polyphagia ORPHA:79444
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism OMIM:615633
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Bardet-Biedl Syndrome 21
Horseshoe kidney, Obesity, Overweight OMIM:617406
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Broad nasal tip, Abnormal columella morphology, Reduced social reciproci... ORPHA:96121
Hyperthyroidism, Nonautoimmune
Small for gestational age, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone lev... OMIM:609152
Amoebiasis Due To Free-Living Amoebae
Confusion, Irritability, Abnormal hypothalamus morphology, Lethargy, Restlessness, Hyposmia ORPHA:68
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight OMIM:614651
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Baralle-Macken Syndrome
Urinary incontinence, Obesity OMIM:619255
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obes... ORPHA:54595
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Ciliary Dyskinesia, Primary, 5
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Reduced sperm motility OMIM:608647
Wilson Disease
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Decreased nerve conduction velocity, Hy... OMIM:277900
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Immotile sperm, Chronic rhinitis OMIM:242670
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Obesity, Prominent nose, Cachexia, Hypoplasia of penis ORPHA:85293
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Weaver Syndrome
Depressed nasal bridge, Polyphagia, Lateral ventricle dilatation OMIM:277590
Intellectual Developmental Disorder, X-Linked 12
Microphallus, Cryptorchidism, Abnormality of neuronal migration, Truncal obesity, Increased body ... OMIM:300957
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testi... ORPHA:791
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Micropenis, Pelvic kidney, Hyposmia OMIM:618653
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi... OMIM:615926
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Anteverted nares ORPHA:3191
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Wide nasal bridge, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced... OMIM:301110
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Anteverted nares, Short nose OMIM:619854
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Prominent nose, Primary amenorrhea ORPHA:319675
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
X-Linked Intellectual Disability, Shashi Type
Bulbous nose, Obesity, Macroorchidism ORPHA:85286
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:601678
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Obesity, Pseudohypoparathyroidism OMIM:612463
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Wide nasal bridge, Self-injurious behavior, Broad nasal tip, Fixated interests, Emotional labilit... OMIM:620330
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Radio-Tartaglia Syndrome
Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Obesity, Anteverted ... OMIM:619312
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Small scrotum, Optic atrophy, Hypogonadism, Obesity, External genital hypop... OMIM:614231
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Obesity, Puberty and gonadal disorders ORPHA:464282
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Chromosome 2Q37 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Obesity, Anteverted nares, Hypothyroidism, Wide nose OMIM:600430
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Depression, Memory impairment, Narcolepsy OMIM:604121
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Obesity, Abnormality of the ovary, Vaginal atresia, Agan... OMIM:209900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Obesity, Prominent nose, Anteverted nares ORPHA:2180
Pseudohypoparathyroidism Type 1A
Depressed nasal bridge, Depression, Confusion, Irritability, Polyphagia ORPHA:79443
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Tall stature, We... ORPHA:29073
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Primary Ciliary Dyskinesia
Abnormal sperm motility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis,... ORPHA:244
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Anteverted nares, Vesicoureteral reflux, Renal insufficiency, Cryptor... ORPHA:96147
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Obesity, Penile freckling, Large for gestational age, Overgrowth, Hydroce... OMIM:605309
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Tall stature, Obesity, Broad columella ORPHA:85325
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Lateral ventricle dilatation, Failure to thrive in infancy, Decreased glo... ORPHA:488627
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Obesity, Decreased fertility, Cryptorchidism, Delaye... ORPHA:3138
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:613090
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Epistaxis, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... ORPHA:340
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Narrow nasal bridge, Anteverted nares, Cryptorchidism, Hyperlipidemi... ORPHA:254346
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circul... ORPHA:85327
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Hypokalemia,... OMIM:263800
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... ORPHA:1020
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Obesity, Agenesis of corpus callosum, Overgrowth, Partial agenesis of the corp... OMIM:620250
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Truncal obesity OMIM:613192
Retinitis Pigmentosa 51
Obesity, Abnormality of the kidney OMIM:613464
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
13Q12.3 Microdeletion Syndrome
Failure to thrive, Underdeveloped nasal alae, Obesity, Cryptorchidism, Low insertion of columella ORPHA:412035
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa... ORPHA:280365
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Obesity, Tall stature, Short nose OMIM:618430
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive ORPHA:98791
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... OMIM:214700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Renal tubular acidosis, Dysmenorrhea, Increased body w... ORPHA:264580
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Hyperbilir... OMIM:609734
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Anteverted nares, Wide nose OMIM:619056
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Renal hypoplasia, Anosmia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis... ORPHA:2363
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... ORPHA:470
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... OMIM:618620
Rabin-Pappas Syndrome
Wide nasal bridge, Broad nasal tip, Failure to thrive in infancy, Obesity, Hyponatremia, Overgrow... OMIM:620155
Choreoacanthocytosis
Self-injurious behavior, Mental deterioration, Phonic tics, Depression, Head-banging, Lateral ven... ORPHA:2388
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Broad nasal tip, Abnormal circulating lipid concentr... OMIM:616541
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Elevated circulating parathyroid hormone level, Obesity, Prominent nose, ... ORPHA:439822
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Increased body weight, Polycystic o... ORPHA:79240
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Prominent nasal bridge, Decreased serum creatinine, Pineal cyst, Decreased H... OMIM:618885
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Recurrent upper respiratory tract infections, Broad nasal tip, Polycystic ovarie... ORPHA:284180
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hyperalaninemia, Elevated circulating creatine kinase concentration OMIM:615418
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Down Syndrome
Depressed nasal ridge, Depressed nasal bridge, Obesity, Decreased fertility, Type II diabetes mel... ORPHA:870
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:241200
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Truncal obesity OMIM:618363
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormalit... ORPHA:813
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Lateral ventricle dilatation, Decreased response to growth hormone stimulation t... ORPHA:177907
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:602522
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P... OMIM:612780
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ... ORPHA:26793
Kleefstra Syndrome
Obesity, Anteverted nares, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Agenesis o... ORPHA:261494
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Obesity, Nephronophthisis OMIM:615630
Carpenter Syndrome
Abnormal reproductive system morphology, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:65759
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C... ORPHA:247353
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Bulbous nose, Obesity, Hydronephrosis OMIM:620511
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Narcolepsy, Low frustrati... ORPHA:646
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Anteverted nares, Gray matter heterot... OMIM:608624
Chromosome 1P36 Deletion Syndrome, Distal
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Lateral ventricle dilatation, P... OMIM:607872
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Orthostatic hypotension, Inc... OMIM:223900
Carpenter Syndrome 1
Precocious puberty, Depressed nasal bridge, Optic atrophy, Hydroureter, Obesity, External genital... OMIM:201000
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:94086
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Bloom Syndrome
Recurrent urinary tract infections, Azoospermia, Nephroblastoma, Oligozoospermia, Abdominal obesi... ORPHA:125
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Renal hypoplasia, Decreased testicular size, Hypoplasia of the ovary, Convex nasal... OMIM:619321
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Failure to thrive, Central hypothyroidism, Ov... ORPHA:508
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Mental deterioration, Memory impairment, Depression ORPHA:314404
Wilson Disease
Increased body weight, Abnormality of the menstrual cycle, Weight loss, Failure to thrive ORPHA:905
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Obesity, Short columella, Cryptorchidism, Proportionate tall stature ORPHA:404443
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Motor stereotypy... ORPHA:778
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... OMIM:608594
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98855
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Broad columella, Underdeveloped nasal alae,... ORPHA:1001
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity OMIM:620639
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Obesity, Broad nasal tip OMIM:619680
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Compensated hypothyroidi... ORPHA:247691
Kleefstra Syndrome 1
Obesity, Anteverted nares, Cryptorchidism, Abnormal renal morphology, Micropenis, Hypospadias OMIM:610253
17Q24.2 Microdeletion Syndrome
Wide nasal bridge, Failure to thrive in infancy, Vesicoureteral reflux, Pineal cyst, Truncal obes... ORPHA:529962
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98853
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Obesity, Prominent nasal bridge, Cryptorchidism, Weight loss, Hypospadias, Sho... ORPHA:251071
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Obesity, Lateral ventricle dilatation, Optic nerve dyspl... OMIM:617296
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Hypospadias, Truncal obesity, Abnormal nasal morphology ORPHA:3224
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Enuresis, Decreased body weight ORPHA:589821
Cohen Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Prominent nasal bridge, Chi... OMIM:216550
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Renal ... ORPHA:412
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Prominent nasal bridge, Anteverted nares, Perisylvian polymicrogyria OMIM:618443
Desbuquois Dysplasia 1
Concave nasal ridge, Depressed nasal bridge, Obesity, Short nose OMIM:251450
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr... ORPHA:91500
1P36 Deletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Self-injurious behavior, Depressed nasal bridge, Agenes... ORPHA:1606
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... ORPHA:309271
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Wide nasal bridge, Nephrocalcinosis, Abnormality of the urinary system, Depre... ORPHA:369837
White-Sutton Syndrome
Depressed nasal bridge, Broad nasal tip, Failure to thrive, Obesity, Depressed nasal tip, Duplica... OMIM:616364
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesemia, Obesity, Decreased urina... ORPHA:79102
Momo Syndrome
Wide nasal base, Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Chops Syndrome
Optic atrophy, Horseshoe kidney, Obesity, Anteverted nares, Vesicoureteral reflux, Cryptorchidism... OMIM:616368
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease... OMIM:618061
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Broad nasal tip, Hyperactivity, Motor stereotypy, Abnormal social behavior ORPHA:530983
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissu... OMIM:269700
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Depressed nasal bridge, Bulbous nose, Obesity, Promi... OMIM:620654
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Shox-Related Short Stature
Obesity ORPHA:314795
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Short attention span, Abnormal social behavior, Progressive psychomotor deter... ORPHA:309263
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
White-Kernohan Syndrome
Depressed nasal bridge, Hydroureter, Underdeveloped nasal alae, Horseshoe kidney, Obesity, Anteve... OMIM:619426
Achondroplasia
Depressed nasal bridge, Obesity, Anteverted nares, Short nasal bridge ORPHA:15
Insulin-Like Growth Factor I, Resistance To
Wide nasal bridge, Decreased body weight, Truncal obesity, Diabetes mellitus, Increased circulati... OMIM:270450
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Occipital Horn Syndrome
Bladder diverticulum, Abnormality of the sense of smell, Recurrent urinary tract infections ORPHA:198
Momo Syndrome
Wide nasal bridge, Overgrowth, Obesity OMIM:157980
Cohen Syndrome
Optic atrophy, Failure to thrive in infancy, Obesity, Prominent nasal bridge, Cryptorchidism, Del... ORPHA:193
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Partial agenesis of the corpus callosum, Elevated circulating creatinine concentratio... OMIM:617478
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... OMIM:260400
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Recurrent urinary tract infections, Obesity, Decreased body weight,... OMIM:619229
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Obesity, Prominent nasal brid... OMIM:619269
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Failure to thrive, Increa... OMIM:222700
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Depressed nasal bridge, Obesity, Optic atrophy OMIM:618493
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hyperamylase... ORPHA:99826
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Kabuki Syndrome
Precocious puberty, Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectop... ORPHA:2322
Distal Deletion 12Q
Pituitary adenoma, Maturity-onset diabetes of the young, Failure to thrive in infancy, Bulbous no... ORPHA:96149
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Truncal obesit... ORPHA:466950
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Abdominal obesity OMIM:301039
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Recurrent upper respiratory tract infections, Decreased glome... OMIM:232240
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Obesity, Failure to thrive ORPHA:261197
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obesity, Hyperchole... OMIM:615812
White-Sutton Syndrome
Depressed nasal bridge, Optic atrophy, Broad nasal tip, Obesity, Duplicated collecting system ORPHA:468678
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232220
Adiposis Dolorosa
Obesity, Hypothyroidism ORPHA:36397
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
6Q Terminal Deletion Syndrome
Failure to thrive, Polymicrogyria, Obesity, Periventricular heterotopia, Phimosis, Abnormality of... ORPHA:75857
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Small scrotum, Renal hypoplasia, Depressed nasal bridge, Optic atrophy, Triang... OMIM:309580
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Irritability, Hair-pulling, Motor stereotypy, Hyperact... ORPHA:447997
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Short nose, Precocious puberty, Fa... ORPHA:904
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Depressed nasal bridge, Dilatation of the renal pelvis, Lateral ventricle dilata... OMIM:619534
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Lateral ventricle dilatation, Orthostatic hypotension ORPHA:2822
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Joubert Syndrome 8
Optic disc pallor, Obesity OMIM:612291
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Wide nasal bridge, Underdeveloped nasal alae, Abnormal female external genita... ORPHA:2637
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Horseshoe kidney, Failure to thrive in infancy, Obesity, Abnormality of the o... ORPHA:99413
Mosaic Monosomy X
Female infertility, Horseshoe kidney, Failure to thrive in infancy, Obesity, Abnormality of the o... ORPHA:99228
Monosomy X
Female infertility, Horseshoe kidney, Failure to thrive in infancy, Obesity, Abnormality of the o... ORPHA:99226
Turner Syndrome
Female infertility, Horseshoe kidney, Failure to thrive in infancy, Obesity, Abnormality of the o... ORPHA:881
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Obesity, Large for gestational age, Vesicoureteral reflux, Cryptorchid... ORPHA:116
Fg Syndrome Type 1
Choanal atresia, Prominent nose, Attention deficit hyperactivity disorder, Compulsive behaviors, ... ORPHA:93932
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity, Optic disc pallor OMIM:616562
Peripartum Cardiomyopathy
Obesity, Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
22Q11.2 Deletion Syndrome
Wide nasal bridge, Choanal atresia, Renal hypoplasia, Optic atrophy, Failure to thrive, Abnormali... ORPHA:567
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Prominent nose, Prominent nasal bridge, Type II diabetes mellitus, Truncal ob... OMIM:210720
3Q29 Microduplication Syndrome
Wide nasal bridge, Obesity ORPHA:251038
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Obesity, Pelvic kidney,... ORPHA:466943
Angelman Syndrome
Obesity OMIM:105830
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin... ORPHA:64
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Abnormality of the pineal gland, Convex nasal ridge, Enuresis ORPHA:369950
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Failure to thrive, ... OMIM:617157
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Cornelia De Lange Syndrome
Choanal atresia, Multicystic kidney dysplasia, Depressed nasal bridge, Failure to thrive, Abnorma... ORPHA:199
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Failure to thrive, Bifid scrotum, Bulbous nose, Obesity, Anteverted nares, Dep... OMIM:619475
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Memory impairment, Bulbous nose, Anteverted nares, Aggressive behavio... ORPHA:314647
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Monosomy 22Q13.3
Wide nasal bridge, Bulbous nose, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Agenes... ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity, Cryptorchidism, Wide nose OMIM:616078
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Bifid nose, Obesity, Depressed nasal bridge OMIM:301066
Witteveen-Kolk Syndrome
Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Male urethral meatus stenosis, Microp... OMIM:613406
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Desbuquois Dysplasia 2
Depressed nasal bridge, Truncal obesity OMIM:615777
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Promin... OMIM:614748
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Xq21 Microdeletion Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Obesity, Renal artery steno... ORPHA:1435
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Williams-Beuren Syndrome
Short nose, Broad nasal tip, Failure to thrive in infancy, Obesity, Early onset of sexual maturat... OMIM:194050
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Horseshoe kidney, Decreased response to growth hormone stimulation test, Obesity, Anteverted nare... ORPHA:444077
Dihydropyrimidine Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Irritability, Prominent nasal tip, Abnormal aggressive,... ORPHA:1675
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Obesity, Optic atrophy OMIM:614947
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Depressed nasal bridge, Bruxism, Hair-pulling, Aggressive behavior, Moto... OMIM:616393
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Obesity... ORPHA:353281
Rubinstein-Taybi Syndrome 1
Wide nasal bridge, Recurrent upper respiratory tract infections, Failure to thrive, Bilateral cry... OMIM:180849
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Digeorge Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Obesity, Renal insufficiency, Hypocalcemia, Ov... OMIM:188400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the urinary system, Failure to thrive, Recurrent urinary tract infections, Abnorma... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Inappropriate laugh... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Thick nasal alae, Bulbous nose, Inappropriate laugh... ORPHA:363958
Tako-Tsubo Cardiomyopathy
Obesity, Mildly elevated creatine kinase, Abnormal circulating B-type natriuretic peptide concent... ORPHA:66529
1P21.3 Microdeletion Syndrome
Obesity, Broad nasal tip, Short nose ORPHA:293948
Alkaptonuria
Decreased glomerular filtration rate, Dark urine, Elevated urinary homogentisic acid, Nephrolithi... OMIM:203500
Myhre Syndrome
Obesity, Prominent nasal bridge, Small for gestational age, Cryptorchidism OMIM:139210
Xylt1-Cdg
Truncal obesity ORPHA:370930
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
African Trypanosomiasis
Delirium, Aggressive behavior, Narcolepsy, Irritability ORPHA:3385
Carpenter Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Bilateral cryptorchidism, Narrow naris, Obesity, Antev... OMIM:614976
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Anteverted ... OMIM:259050
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Obesity, Increased HDL cholesterol concent... ORPHA:70591
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Cyanosis, Severe failure to th... ORPHA:740
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Obesity, Delayed puberty, Shawl sc... OMIM:181450
Mend Syndrome
Prominent nasal bridge, Aggressive behavior, Hyperactivity, Abnormal nasal bridge morphology, Abn... ORPHA:401973
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity OMIM:301072
Cornelia De Lange Syndrome 6
Compulsive behaviors, Anteverted nares, Short nose, Hair-pulling OMIM:620568
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Depressed nasal bridge, Failure to thrive, Bulbous nose, Prominent nose, Anteverted nares, Promin... OMIM:612474
Pallister-Killian Syndrome
Wide nasal bridge, Small scrotum, Depressed nasal bridge, Obesity, Anteverted nares, Cryptorchidi... OMIM:601803
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Adcy3

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 Adcy3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Adcy3tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adcy3tm1a(EUCOMM)Wtsi PMC6671969

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
Adcy3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adcy3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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