Gene Summary

Name:
adenylate cyclase 3
Synonyms:
AC3,  ACIII

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased lean body mass Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-05
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 total body fat amount Adcy3tm1a(EUCOMM)Wtsi HET Early adult 8.49×10-05
increased hematocrit Adcy3tm1a(EUCOMM)Wtsi HET Early adult 2.74×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

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
Hypertriglyceridemia, Hyperinsulinemia, Hyposmia, Hyperlipidemia, Anosmia, Obesity, Increased ser... 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
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia, Cryptorchidism, Decreased testicular size, Absence of pubertal development, Ob... OMIM:610628
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Musk, Inability To Smell
Anosmia OMIM:254150
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Abnormality of the sense of smell, Cr... OMIM:146110
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit 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
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Hypogonadotropic hypogona... OMIM:614858
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity, Hypogonadism OMIM:615988
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Hyposmia, Anosmia, Primary amenorrhea, Cryptorchidism, Mi... OMIM:612702
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Hyposmia, Decreased circulating follicle stimulating hormone concentration, Decrease... OMIM:614897
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Hyposmia, Decreased circulating luteinizing hormone level... OMIM:308700
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Decreased testicular size, Bifid nose, Micropenis, Hypogonadotropic hypogonadism OMIM:614838
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hyposmia, Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Hyp... OMIM:244200
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Absence of pubertal development, Anosmia, Hypogonadism OMIM:615267
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Anosm... OMIM:614841
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency, Hypogonadism OMIM:615987
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Anosmia, Hypogonadism OMIM:615270
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Primary... OMIM:618841
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia, Hypergonadotropic hypogonadism, Decreased motor nerve conduction velocity,... OMIM:613724
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Delayed puberty, Hyposmia, Anosmia, Choanal atresia, Agenesis of corpus callosum, Primary amenorr... OMIM:147950
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Mi... OMIM:614880
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Aural Atresia, Congenital
Hyposmia OMIM:607842
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Anosmia, Hypogonadism, Depressed nasal bridge OMIM:302950
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Bardet-Biedl Syndrome 19
External genital hypoplasia, Hyposmia, Renal hypoplasia, Obesity, Hydronephrosis, Hypogonadism, R... OMIM:615996
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Bardet-Biedl Syndrome 17
Polyuria, Hyposmia, Anosmia, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, M... OMIM:615994
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyposmia, Hyperlipidemia, Anosmia, Obesity, Increased ser... OMIM:617885
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Kallmann Syndrome
Delayed puberty, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of penis, Hyposmia, D... ORPHA:478
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Huntington Disease
Bradykinesia, Irritability, Agitation, Oral-pharyngeal dysphagia, Memory impairment, Depression, ... ORPHA:399
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
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
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Obesity,... ORPHA:71529
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Obesity, Hypogonadism, Renal dysplasia, ... OMIM:615993
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm 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
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Obesity, Primary amenorrhea, Hypogonadism, Rec... OMIM:614962
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Decreased testicular size, Failure to thrive, Hypogonadism, Bulbous nose, Truncal... ORPHA:261483
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Abnormality of the sense of... ORPHA:1135
Johnson Neuroectodermal Syndrome
Facial palsy, Anosmia, Choanal atresia, Failure to thrive, Hypogonadism, Bulbous nose ORPHA:2316
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Bifid scrotum, Anosmia, Hypogonadot... ORPHA:1295
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Obesity, Infertility OMIM:604931
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Maturity-onset diabete... ORPHA:324575
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Obesity, Hypogonadism, Crypto... OMIM:615982
Leptin Receptor Deficiency
Emotional lability, Polyphagia, Abnormal hypothalamus morphology, Recurrent upper respiratory tra... OMIM:614963
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Failure to thrive, Nephrocalcinosis, Decreased ci... ORPHA:320
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Failure to thrive, Decreased circulating aldoster... OMIM:218030
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, I... OMIM:617872
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Optic nerve hypoplasia, Anterior pitu... ORPHA:3157
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Depressed nasal tip, Obes... OMIM:300148
Bardet-Biedl Syndrome 7
Obesity, Depressed nasal bridge, Hypogonadism OMIM:615984
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell... ORPHA:2234
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Mody
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... ORPHA:552
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Decreased fertility, Abnormal testis morphology, Hypogonadism ORPHA:2233
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Inappropriate laughter, Polyphagia, Short attention span ORPHA:411515
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin, Small for gestational age ORPHA:85288
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Elevated hemogl... OMIM:616113
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Infertility, Immotile sperm OMIM:618449
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Peroxisome Biogenesis Disorder 9B
Elevated circulating phytanic acid concentration, Anosmia, Total anosmia 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
Bradykinesia, Hyposmia, Anosmia, Dysphagia, Dementia, Aggressive behavior OMIM:606693
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Glucoco... ORPHA:231632
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Hypogonadism OMIM:615985
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Obesity Due To Sim1 Deficiency
Cognitive impairment, Attention deficit hyperactivity disorder, Polyphagia, Memory impairment ORPHA:369873
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Increased circulating corticosterone l... OMIM:610600
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity, Enlarged polycystic ovaries OMIM:184700
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Male infertility, Anosmia, Chronic rhinitis OMIM:244400
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Renal in... OMIM:177200
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Male infertility, Decreased HDL cholesterol concentration, P... ORPHA:85450
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... OMIM:262400
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Wide nasal bridge, Depressed nasal bridge, ... ORPHA:261229
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Depression, Hyposmia, Short attention span, Impulsivity, Frontal lobe de... ORPHA:2828
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, Glucocortocoid-ins... ORPHA:231625
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Abnormal nerve conduction velocity, Hyposmia, Anosmia, Abnormal autonomic n... OMIM:243000
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... OMIM:613677
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Partial anosmia, Bilateral cryptorchidism, Total anosmia, Decreased testicular s... ORPHA:2326
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Abnormal renal physiology, Anosmia OMIM:266500
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... ORPHA:79085
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Anosmia, Abnormality of the hypothalamus-pituitary axis, Hypogo... ORPHA:251066
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Bulbous nose, Polyphagia, Overfriendliness OMIM:620439
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Diffuse pancreatic... ORPHA:276575
Bardet-Biedl Syndrome 2
External genital hypoplasia, Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Acute Adrenal Insufficiency
Hyperkalemia, Delayed puberty, Renal salt wasting, Orthostatic hypotension, Hyperuricemia, Adrena... ORPHA:95409
Wilson-Turner Syndrome
Cryptorchidism, Broad nasal tip, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating... OMIM:300869
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Anosmia ORPHA:2057
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Frontotemporal dementia, Memory impairment, Polyphagia, Progressive language deteriora... OMIM:607485
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Narrow nasal ridge, Anteverted nares, Polyphagia, Short attention span, Impul... OMIM:615538
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Hypospadias, Anosmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:619718
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort... ORPHA:556037
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Single naris, Hypoplasia of penis, Hyposmia, Anosmia, Hypogonadism, ... ORPHA:2250
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... ORPHA:435660
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Obesity, Nocturia, Female sexual dysfunction ORPHA:2073
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort... ORPHA:556030
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Wide nasal bridge, Anosmia OMIM:210745
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... ORPHA:85138
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Anteverted nares, Renal dysplasia, Depressed nasal ... OMIM:154230
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Anosmia, Optic disc pallor OMIM:601152
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Enuresis, Obesity, Broad nasal tip, Failure to thrive in infancy OMIM:613670
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hyponatremia, Failure to thr... OMIM:203400
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Intellectual Developmental Disorder, X-Linked 91
Short nose, Obesity OMIM:300577
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obesity ORPHA:2928
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia OMIM:618126
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Large for gestational age, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia, Hypogonadism, Cryptorchidism OMIM:613266
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, External genital hypoplasia, Hypogonadotropic hypogonadism ORPHA:177910
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Perivent... OMIM:619737
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity, Bulbous nose ORPHA:2139
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Primary hyperaldosteronism, Decreased circulating renin level, Nephrolithiasis, Hypokalemia OMIM:615474
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level OMIM:615238
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism, Hypoplasia of penis ORPHA:3055
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypoplastic labia majora, Anosmia, Choanal atresia, Primary amenorrhea, Cryptorchidi... OMIM:603457
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Polyphagia, Wide nasal bridge, Self-mutilation, Aggressive behavior OMIM:616521
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Elevat... ORPHA:49041
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Type I diabetes mellitus, Proteinuria, Chronic ki... ORPHA:275555
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae OMIM:300872
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters... OMIM:614817
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... OMIM:604367
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulatin... OMIM:177735
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Intellectual Developmental Disorder, Autosomal Dominant 1
Short columella, Short nose, Recurrent hand flapping, Short attention span, Polyphagia, Depressed... OMIM:156200
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anosmia, Choanal... OMIM:147250
Holoprosencephaly
Optic atrophy, Anterior hypopituitarism, Diabetes insipidus, Hyposmia, Anteverted nares, Hypoplas... ORPHA:2162
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Wide nose, Truncal obesity, Anteverte... OMIM:616222
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Senior-Loken Syndrome 9
Nephronophthisis, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Tubulointerstitial nephr... OMIM:616629
Cebalid Syndrome
Short nose, Anteverted nares, Polymicrogyria, Polyphagia, Depressed nasal ridge, Depressed nasal ... OMIM:618774
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Anteverted nares, Polyphagia, Bulbous nose, Depressed nasal bridge ORPHA:171829
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Aganglionic megacolon, Hyperuricemia, Vesicoureteral reflux, Renal age... ORPHA:261222
Refsum Disease
Renal insufficiency, Anosmia ORPHA:773
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Elevated circulating creatinine co... OMIM:619468
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections OMIM:300209
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro... ORPHA:168782
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Familial Hypoaldosteronism
Hyperkalemia, Renal salt wasting, Orthostatic hypotension, Increased circulating renin level, Hyp... ORPHA:427
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc... OMIM:612469
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, A... ORPHA:110
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Irregular menstruation, Renal insufficiency OMIM:615986
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Meningioma
Urinary incontinence, Impotence, Decreased circulating cortisol level, Abnormal hypothalamus phys... ORPHA:2495
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter, Obesity, Prominent nasal bridge, Hypogonadism, Cr... ORPHA:3409
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Urinary incontinence, Infertility, Decreased testicular size, Red... ORPHA:320391
Trisomy 18P
Attention deficit hyperactivity disorder, Wide nasal bridge, Polyphagia, Underdeveloped nasal alae ORPHA:1715
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
48,Xxyy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Anterior hypopituitarism, Reduced circ... ORPHA:2235
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Polyphagia, Prominent nose, Periventricular heterotopi... ORPHA:397941
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Diabetes mellitus, Mic... ORPHA:85282
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Polymicrogyria, Cryptorchidism, Decreased testicular size, Simplifi... OMIM:300354
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... OMIM:616733
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Nephrolithiasis, Abnormality of the sen... ORPHA:91412
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Lead Poisoning
Delayed puberty, Decreased HDL cholesterol concentration, Decreased male libido, Increased LDL ch... ORPHA:330015
Cornelia De Lange Syndrome 5
Anteverted nares, Decreased testicular size, Prominent nasal bridge, Broad nasal tip, Hypogonadis... OMIM:300882
Morm Syndrome
Abnormality of the kidney, Truncal obesity, Micropenis ORPHA:75858
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hypokalemia, Hyperprostaglandi... ORPHA:89938
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation, Hyperinsulinemia, Orthostatic hypotension, Increased blood urea nitrogen,... ORPHA:230
Aromatase Deficiency
Male infertility, Tall stature, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic... ORPHA:91
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Atretic vas deferens, Decreased numbers of ... OMIM:137920
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Ciliary Dyskinesia, Primary, 34
Male infertility, Recurrent sinusitis, Immotile sperm, Chronic rhinitis OMIM:617091
Ciliary Dyskinesia, Primary, 26
Recurrent sinusitis, Rhinitis, Infertility, Reduced sperm motility OMIM:615500
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Agitation, Depression, Low frustration tolerance, Hyposmia, Impulsivity, Dysphagia,... ORPHA:411602
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp... ORPHA:199343
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism, Micropenis OMIM:301900
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Monosomy 13Q34
Prominent nose, Obesity, Broad nasal tip, Prominent nasal bridge, Epistaxis, Agenesis of corpus c... ORPHA:96168
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Compulsive behaviors, Short attention span, Attention deficit hyperacti... ORPHA:444002
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Wide nose ORPHA:276630
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Joubert Syndrome 10
Wide nasal bridge, Polyphagia, Frequent temper tantrums OMIM:300804
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting, Hyperaldosteronism OMIM:619406
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Superficial Siderosis
Partial anosmia, Memory impairment, Dysgyria, Anosmia, Cognitive impairment, Dementia ORPHA:247245
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia ORPHA:2126
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1742
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a... ORPHA:247768
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Type II diabetes mellitus, Cry... ORPHA:2377
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Hyperactivity, Reduced subcutaneous adipose tissue, ... ORPHA:363400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Failure to thrive, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
48,Xxxy Syndrome
Tall stature, Azoospermia, Hypoplasia of penis, Infertility, Renal dysplasia, Depressed nasal rid... ORPHA:96263
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Hyperactive renin-ang... OMIM:607364
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:601678
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology, Agenesis of corpus callosum, Abnormality of t... ORPHA:2189
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Wide nose, Precocious puberty, Obesity, Hypercholesterolemia ORPHA:254531
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Failure to thrive, Neonatal death, Decreased circulating T4 concentration, Hypoal... OMIM:608104
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Wide nose, Truncal obesity, Anteverted nares, Precocious pu... ORPHA:96184
Charge Syndrome
Optic atrophy, Delayed puberty, Abnormality of the adrenal glands, Horseshoe kidney, Anterior hyp... ORPHA:138
Luscan-Lumish Syndrome
Long nose, Aggressive behavior, Polyphagia, Excessive shyness OMIM:616831
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ... OMIM:619927
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypospadias, Anteverted nares, Renal agenesis, Renal hypoplasia, Obesity, Cryptorchid... ORPHA:171839
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Emotional lability, Hyperactivity, Polyphagia ORPHA:525731
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Impulsivity, Cogni... ORPHA:683
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98754
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increas... OMIM:263800
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Chronic rhinitis, Reduced sperm motility OMIM:612650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Nasal congestion, Reduced sperm motility, Optic disc pallor OMIM:615434
Sheehan Syndrome
Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr... ORPHA:91355
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Hypogonadism, Truncal obesity, Small for gestatio... ORPHA:73272
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev... OMIM:214700
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:98793
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Reduced sperm motility, Chronic rhinitis OMIM:612649
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Ciliary Dyskinesia, Primary, 18
Rhinitis, Male infertility, Recurrent sinusitis, Immotile sperm OMIM:614874
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177904
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short nose, Wide nose, Emotional lability, Polyphagia, Prominent nasal bridge, Restlessness, Conv... ORPHA:251028
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu... OMIM:174000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyria, De... ORPHA:177901
Hypotonia-Cystinuria Syndrome
Polyphagia, Depressed nasal bridge OMIM:606407
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Small scrotum, Ad... OMIM:176270
Rafiq Syndrome
Underdeveloped nasolabial fold, Wide nose, Obesity, Prominent nose, Bulbous nose, Truncal obesity... OMIM:614202
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Agitation, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:263455
Temple Syndrome
Polyphagia ORPHA:254516
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Obesity, Hydronephrosis, Vaginal atresia, Hypogonadism, Cystic ren... OMIM:615989
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... OMIM:162000
Chung-Jansen Syndrome
Anteverted nares, Short nose, Cryptorchidism, Obesity OMIM:617991
Ciliary Dyskinesia, Primary, 22
Infertility, Nasal polyposis, Rhinitis, Recurrent sinusitis, Reduced sperm motility OMIM:615444
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec... OMIM:614736
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Hsd10 Disease
Dysphagia, Short attention span, Abnormal social behavior ORPHA:391417
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin... OMIM:614376
Idiopathic Intracranial Hypertension
Papilledema, Obesity, Focal sensory seizure with olfactory features ORPHA:238624
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Helsmoortel-Van Der Aa Syndrome
Irritability, Short nose, Hyperactivity, Anteverted nares, Polyphagia, Compulsive behaviors, Broa... OMIM:615873
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612925
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Narrow nasal bridge, Polyphagia, Compulsive behaviors, Impulsivity, Cog... ORPHA:398069
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Moebius Syndrome
Facial palsy, Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:570
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis, Oligomenorrhea, Obesity, Pituitary adenoma, Increased circulating A... OMIM:219090
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Agenesis of corpus callosum OMIM:619111
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Clark-Baraitser Syndrome
Short nose, Low hanging columella, Anteverted nares, Obesity, Depressed nasal bridge OMIM:617752
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Bulbous nose, Macroorchidism OMIM:300238
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoplasia of penis, Depre... ORPHA:633
Adiposis Dolorosa
Obesity OMIM:103200
Summitt Syndrome
Depressed nasal ridge, Tall stature, Obesity, Wide nose ORPHA:3210
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Hyperactive ... OMIM:241200
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Hypospadias, Anteverted nares, Congenital hypothyroidism, Cryptorchidism, Obesity, Di... OMIM:614613
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Angelman Syndrome
Tongue thrusting, Hyperactivity, Recurrent hand flapping, Polyphagia, Inappropriate laughter, Dys... ORPHA:72
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Underdeveloped nasolabial fold, Prominent nasal tip, Abnormal circulating acylcarnitine concentra... OMIM:620191
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, Decreased testicular size, Broad nasal tip, Hypogonadism, Micropenis... ORPHA:3041
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Anterior hypopituitarism, Microphallus, Abdominal obesity, Depressed nasal bridge ORPHA:631
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:603233
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction, Obesity, Agenesis o... OMIM:604360
Gorlin Syndrome
Ovarian fibroma, Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Cryptorchidism... ORPHA:377
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Anteverted nares, Vesicoureteral reflux, Depressed nasal rid... ORPHA:464288
Glucocorticoid Deficiency 3