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

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

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
Hyposmia, Anosmia 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, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Bardet-Biedl Syndrome 19
Obesity, External genital hypoplasia, Renal insufficiency, Hyposmia, Hypogonadism OMIM:615996
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, ... OMIM:610628
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Primary amenorrhea, Micropenis, Azoospermia, Cryptorchidism, Hyposmia, Decreased testicu... OMIM:614897
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism... OMIM:612702
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Azoospermia,... OMIM:614837
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated ... ORPHA:90793
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615988
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308700
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615989
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea OMIM:614839
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular size OMIM:614858
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Micropenis, Hyposmia, Decreased testicular size OMIM:614838
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadism OMIM:615267
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Abnormality of the kidney, Renal insufficiency, Hypogonadism OMIM:615987
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Microcephaly, Depressed nasal bridge, Short nasal septum, Short nose, Hypogonadism OMIM:302950
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the uterus OMIM:614842
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308750
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Agenesis of corpus callosum, Cryptorc... OMIM:147950
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia, Hypogonadotropic hypogonadism OMIM:113480
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Primary amenorrhea, Cryptorchidi... OMIM:618841
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased... OMIM:614841
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Abnormality of thalamus morphology, Abnormal motor neuron morphology, Hyposmia, Leuk... OMIM:613724
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Anosmia OMIM:612370
Huntington Disease
Suicidal ideation, Cerebral atrophy, Degeneration of the striatum, Memory impairment, Caudate atr... ORPHA:399
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchi... OMIM:244200
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Decreased serum insulin-like gro... ORPHA:314811
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Aural Atresia, Congenital
Hyposmia OMIM:607842
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Kallmann Syndrome
Renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogona... ORPHA:478
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Obesity, Abnormality of the kidney, External genital hypoplasia, Rena... OMIM:615993
Frontotemporal Dementia
Apathy, Irritability, Polyphagia, Frontal lobe dementia, Frontotemporal dementia, Amyotrophic lat... OMIM:600274
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Bardet-Biedl Syndrome 17
Renal cyst, Anosmia, Micropenis, Obesity, Polyuria, Hyposmia, Stage 5 chronic kidney disease, Hyp... OMIM:615994
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pick Disease Of Brain
Emotional blunting, Apathy, Irritability, Polyphagia, Frontotemporal dementia, Diminished motivation OMIM:172700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin l... ORPHA:90795
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Hypogonadism, External genital hypoplasia OMIM:615983
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Obesity, Oligospermia, Hypertriglyceridemia, Incr... OMIM:615703
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Johnson Neuroectodermal Syndrome
Anosmia, Bulbous nose, Choanal atresia, Microcephaly, Failure to thrive, Facial palsy, Hypogonadism ORPHA:2316
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Xq27.3Q28 Duplication Syndrome
Bulbous nose, Cryptorchidism, Truncal obesity, Failure to thrive, Premature ovarian insufficiency... ORPHA:261483
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea, Precocious puberty OMIM:604931
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Primary amenorrhea, Micropenis, Obesity, Decreased ... OMIM:614962
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Erythrocytosis, Familial, 2
Failure to thrive, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of penis, Abnormality of the nares, Bifid scro... ORPHA:1295
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Anosmia, Micropenis, Choanal stenosis, Microcephaly, Facial palsy,... OMIM:147770
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Polyphagia, Aggressive behavior ORPHA:329249
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Wide nasal bridge, Aggressive behavior, Self-mutilation, Thin corpus callosum, ... OMIM:616521
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving th... ORPHA:1135
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mehmo Syndrome
Broad nasal tip, Small for gestational age, Delayed puberty, Micropenis, Obesity, Microcephaly, M... OMIM:300148
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Obesity, Central adrenal insuff... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, No social interaction, Unhap... ORPHA:96369
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Recurrent upper respiratory tract infections, Aggressive behavi... OMIM:614963
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Anosmia, Hypothyroidism, Nephrolithiasis, Depresse... ORPHA:442
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Obesity, Abnormality of the kidney, External genital hypoplasia, Hypo... OMIM:615982
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium c... ORPHA:320
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Decreased circulating aldosterone level, Failure to thriv... OMIM:218030
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Infertility, Immotile sperm OMIM:618449
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypercholesterolemia, Hypoplasia of penis, Truncal obesity, Microcephaly, Fai... ORPHA:181393
Kufor-Rakeb Syndrome
Anosmia, Dementia, Bradykinesia, Aggressive behavior, Dysphagia, Hyposmia OMIM:606693
Septo-Optic Dysplasia Spectrum
Anosmia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pituitary h... ORPHA:3157
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Obesity, Hypogonadism OMIM:615984
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Abnormality of the thyroid gland, Obesity, Hypoplasia of penis, Eunuchoid habitus,... ORPHA:2234
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, External genital hypoplasia, Diabetes mellitus, Hypospadias OMIM:605231
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Small for gestational age ORPHA:85288
Bardet-Biedl Syndrome 22
Large for gestational age, Microcephaly, Obesity, Hypogonadism OMIM:617119
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Decreased fertility, Obesity, Hypogonadism ORPHA:2233
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Memory impairment, Progressive language deterioration, Apathy, Lewy bodi... OMIM:607485
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Wide nasal bridge, Hypoplasia of penis, Type II diabetes mellitus, Abn... ORPHA:791
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Obesity, Decr... ORPHA:66628
Ichthyosis And Male Hypogonadism
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Anosmia, Male hypogonadism OMIM:308200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level, Abnormality of the... OMIM:103900
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Ovarian neoplasm, Glucocortocoid-insensitive primary hyperal... ORPHA:231632
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge, Abnorma... ORPHA:377
Peroxisome Biogenesis Disorder 9B
Anosmia, Elevated levels of phytanic acid OMIM:614879
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal sal... OMIM:610600
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Primary amenorrhea, Hyperinsulinemia, Obesity, Decr... ORPHA:179494
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Small for gestational age, Pro... ORPHA:275555
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Urinary incontinence, Anosmia, Abnormal autonomic nervous system physiology OMIM:243000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Ciliary Dyskinesia, Primary, 1
Anosmia, Chronic rhinitis, Nasal polyposis, Recurrent bronchitis, Male infertility OMIM:244400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Anosmia, Abnormality of the hypothalamus-pituitary axis, Azoosperm... ORPHA:251066
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Hypogonadism OMIM:615985
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipose tissue, Hyperins... ORPHA:280356
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Cryptorchidism, Hypoplasia of penis, External genital hypopl... ORPHA:2250
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:231625
Obesity Due To Sim1 Deficiency
Polyphagia, Cognitive impairment, Memory impairment ORPHA:369873
Chromosome Xq27.3-Q28 Duplication Syndrome
Bulbous nose, Small for gestational age, Cryptorchidism, Decreased serum testosterone concentrati... OMIM:300869
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adr... OMIM:613677
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Renal in... OMIM:177200
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Microcephaly, Obesity OMIM:309585
Acute Adrenal Insufficiency
Primary adrenal insufficiency, Hyponatremia, Decreased female libido, Hypercalcemia, Increased ci... ORPHA:95409
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231580
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Refsum Disease, Classic
Anosmia, Abnormal renal physiology, Elevated levels of phytanic acid OMIM:266500
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Immunodeficiency 8
Hyperactivity OMIM:615401
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Happy demeanor, Cessation of head growth ORPHA:411515
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Insulinoma
Pituitary prolactin cell adenoma, Anxiety, Transient global amnesia, Lethargy, Polyphagia ORPHA:97279
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, Total anosmia, Micropenis, Bilateral cryptorchidis... ORPHA:2326
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm ... ORPHA:320391
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556037
Wilson-Turner Syndrome
Cryptorchidism, Broad nasal tip, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Poor eye contact OMIM:613886
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Hypopla... OMIM:202010
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556030
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism, External genital hypoplasia OMIM:615981
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellit... ORPHA:79085
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
46,Xy Sex Reversal 4
Hypoplastic labia majora, Anteverted nares, Elevated circulating creatinine concentration, Depres... OMIM:154230
Addison Disease
Primary adrenal insufficiency, Orthostatic hypotension, Hashimoto thyroiditis, Thymoma, Premature... ORPHA:85138
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism, Micropenis, Delayed puberty, Hypospadias OMIM:619718
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cebalid Syndrome
Depressed nasal ridge, Depressed nasal bridge, Polyphagia, Polymicrogyria, Anteverted nares, Shor... OMIM:618774
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Basal ganglia calcification, Choroid plexus ca... OMIM:612462
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Hypogonadism, Truncal obesity OMIM:268050
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal o... OMIM:618160
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane... ORPHA:435660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Anosmia, Midnasal stenosis, Anterior hypopituitarism, Choanal atresia... OMIM:147250
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Hyperinsulinemia, Cryptorchidism, Obesity, Secondary amenorrhea, Type II diab... ORPHA:3085
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Decreased circ... OMIM:203400
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Mental Retardation, X-Linked 91
Obesity, Short nose OMIM:300577
Young-Onset Parkinson Disease
Impaired social interactions, Cognitive impairment, Anxiety, Dementia, Bradykinesia, Panic attack... ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Obesity, Optic atrophy, Abnormal cerebral white matter morphology OMIM:614947
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia, Optic disc pallor, Optic atrophy OMIM:601152
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Secondary amenorrhea, Increased circulati... OMIM:615300
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Failure to thrive in infancy, Enuresis, Obesity, Short nose OMIM:613670
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Nephrolithiasis OMIM:615474
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia ORPHA:177910
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypoplasia of the corpus callosum, Bulbous nose, Cryptorchidism, Micropenis, Abnormal cerebral wh... OMIM:300354
Waardenburg Syndrome, Type 4C
Cryptorchidism, Anosmia, Aganglionic megacolon, Hypogonadism OMIM:613266
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin ... OMIM:262700
Bosma Arhinia Microphthalmia Syndrome
Hypoplastic labia majora, Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Cryptorchid... OMIM:603457
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Recurrent bronchitis, Recurrent sinusitis, Male infertility, Immotile sperm OMIM:617091
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, N... OMIM:194072
Holoprosencephaly
Diabetes insipidus, Failure to thrive in infancy, Proteinuria, Cryptorchidism, Panhypopituitarism... ORPHA:2162
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Basal ganglia calcification, Choroid plexus ca... OMIM:103580
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... ORPHA:329918
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, Acute kid... ORPHA:49041
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Abnormal circulating aldosterone, Failure to thrive in infancy, Increased circulati... ORPHA:171876
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity, Bulbous nose ORPHA:2139
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adren... OMIM:609734
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Nephronophthisis, Hypogona... OMIM:616629
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperactive ren... OMIM:177735
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Small for gestational age, Hyperinsuli... OMIM:262190
Narcolepsy Type 1
Obesity ORPHA:2073
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Obesity, Hypogonadism, External genital hypoplasia ORPHA:363741
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hypoplasia of penis ORPHA:3055
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Temple Syndrome
Small for gestational age, Hypercholesterolemia, Cryptorchidism, Overweight, Truncal obesity, Dep... OMIM:616222
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue i... ORPHA:435651
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Unilateral renal agenesis, Glycosuria, Elevated circulating creatinine concentra... OMIM:137920
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Luscan-Lumish Syndrome
Long nose, Anxiety, Aggressive behavior, Shyness, Polyphagia OMIM:616831
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
2Q23.1 Microdeletion Syndrome
Microcephaly, Self-injurious behavior, Polyphagia ORPHA:228402
Hereditary Late-Onset Parkinson Disease
Low frustration tolerance, Dementia, Bradykinesia, Mental deterioration, Apathy, Lewy bodies, Cer... ORPHA:411602
Familial Hypoaldosteronism
Adrenal insufficiency, Orthostatic hypotension, Hyponatremia, Decreased urinary potassium, Increa... ORPHA:427
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Mehmo Syndrome
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, External genital hypoplasia, Microcepha... ORPHA:85282
Immunodeficiency 61
Recurrent sinusitis, Obesity OMIM:300310
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Obesity, Chronic kidney disease, Abnormality of the kidney, Aganglio... ORPHA:261222
Refsum Disease
Anosmia, Renal insufficiency ORPHA:773
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Self-injurious behavior, Aggressive behavior, Microcephaly, Prominent nose, Polypha... OMIM:156200
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Proximal tubulo... OMIM:241150
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Decreased body weight, Weight loss, Fasting hypoglycemia, Hype... ORPHA:2298
Parkinson Disease 8, Autosomal Dominant
Dementia, Bradykinesia, Substantia nigra gliosis, Lewy bodies, Hyposmia OMIM:607060
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Perisylvian polymicrogyria, Obesity, Microcephaly, Prominent nasal bridge, Hypo... OMIM:618443
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Decreased nerve conduction velocity, Truncal obesity ORPHA:2928
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Cryptorchidism, Obesity, Hypoplasia of penis, Prominent nasal bridge, ... ORPHA:3409
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism OMIM:601794
6Q16 Microdeletion Syndrome
Polyphagia, Depressed nasal bridge, Anteverted nares, Bulbous nose ORPHA:171829
Graves Disease, Susceptibility To, 1
Polyphagia, Irritability OMIM:275000
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Irregular menstruation, Truncal obesity OMIM:615986
Superficial Siderosis
Abnormal corpus callosum morphology, Cognitive impairment, Anosmia, Memory impairment, Dementia, ... ORPHA:247245
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, I... ORPHA:759
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Immotile sperm, Rhinitis, Male infertility OMIM:614874
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Periventricular heterotopia, Wide nasal bridge, Polyph... ORPHA:397941
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Small for gestational age, Abnorm... OMIM:616733
Bardet-Biedl Syndrome
Nephrotic syndrome, Cryptorchidism, Obesity, Hypoplasia of penis, Multicystic kidney dysplasia, P... ORPHA:110
11P15.4 Microduplication Syndrome
Anteverted nares, Obesity ORPHA:300305
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Obesity, Microcephaly, Delayed puberty, Hypoplasia of the prostate OMIM:301900
Cornelia De Lange Syndrome 5
Broad nasal tip, Cryptorchidism, Micropenis, Truncal obesity, Microcephaly, Depressed nasal bridg... OMIM:300882
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Abnormal fifth cranial nerve morphology, Nephrolithiasis, Choa... ORPHA:91412
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
48,Xxyy Syndrome
Infertility, Tall stature, Azoospermia, Cryptorchidism, Obesity, Hypoplasia of penis, Type II dia... ORPHA:10
Ciliary Dyskinesia, Primary, 26
Recurrent sinusitis, Infertility, Rhinitis, Reduced sperm motility OMIM:615500
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Hyperinsulinemia, Elevate... ORPHA:230
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Cerebral atrophy, Cryptorchidism, Micropenis, Renal hypoplasia, Obesity, Depresse... ORPHA:171839
Angelman Syndrome
Cerebral dysmyelination, Happy demeanor, Self-injurious behavior, Anxiety, Aggressive behavior, P... ORPHA:72
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Hydrolethalus
Agenesis of corpus callosum, Cryptorchidism, Anencephaly, Abnormality of the sense of smell, Abno... ORPHA:2189
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Microcephaly, Cerebral atrophy, Obesity, Hypoplasia of the corpus callosum OMIM:616756
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Monosomy 13Q34
Fetal pyelectasis, Broad nasal tip, Epistaxis, Agenesis of corpus callosum, Obesity, Infantile hy... ORPHA:96168
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Aromatase Deficiency
Primary amenorrhea, Hyperlipidemia, Cryptorchidism, Obesity, Hypergonadotropic hypogonadism, Ambi... ORPHA:91
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Wide nasal bridge, Congenital hypothyroidism, Microcephaly, Cerebral cortical atrophy, H... ORPHA:352530
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Small for gestational age, Hypochloremia, Increased ... ORPHA:89938
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimulation test ORPHA:254516
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Poor eye contact, Depressed nasal bridge, Hypoplasia of the co... ORPHA:444002
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Morm Syndrome
Micropenis, Abnormality of the kidney, Truncal obesity ORPHA:75858
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Basal ganglia cysts, Hydronephrosis, Polycystic ki... OMIM:608836
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Polycystic ovaries, Abnormal penis morphology, Goiter, Abnormal calcium-p... ORPHA:457059
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Hypotonia-Cystinuria Syndrome
Polyphagia, Depressed nasal bridge, Decreased response to growth hormone stimulation test OMIM:606407
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Cognitive impairment, Lethargy, Narrow nasal bridge, Polyphagia, Hypothala... ORPHA:398069
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Obesity ORPHA:276630
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Truncal obesity, Microcephaly, Failure to thrive, Concave nasal ridge,... ORPHA:73272
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Trisomy 18P
Microcephaly, Wide nasal bridge, Polyphagia, Underdeveloped nasal alae ORPHA:1715
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Microcephaly, Truncal obesity OMIM:300471
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Charge Syndrome
Hypogonadotropic hypogonadism, Anosmia, Horseshoe kidney, Abnormal cranial nerve morphology, Opti... ORPHA:138
Pediatric-Onset Graves Disease
Mood swings, Microcephaly, Irritability, Polyphagia, Polydipsia ORPHA:525731
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increas... ORPHA:247768
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Sheehan Syndrome
Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Decreased serum estradiol, Ce... ORPHA:91355
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Polyuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Renal juxtaglome... OMIM:601678
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Depressed nasal ridge, Cryptorchidism, Renal hypoplasia, Obesity, Micro... ORPHA:464288
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Micropenis, Obesity, Multicystic kidney dysplasia, ... OMIM:300209
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Increased circulating renin level, Renal potassiu... OMIM:607364
48,Xxxy Syndrome
Infertility, Small scrotum, Depressed nasal ridge, Azoospermia, Cryptorchidism, Obesity, Hypoplas... ORPHA:96263
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Hyperactivity, Gener... ORPHA:363400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Irregular menstruation, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stim... ORPHA:189427
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Obesity, Urinary urgency, Urinary bladder sphincter dysfunction, Cer... OMIM:604360
Laurence-Moon Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Displacement of the urethral meatus, Type II diabet... ORPHA:2377
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Chronic rhinitis OMIM:612650
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Convex nasal ridge, Aggressive behavior, Emotional lability, Microcephaly, Self-mutila... ORPHA:251028
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Gaisböck Syndrome
Increased hematocrit, Obesity, Increased mean corpuscular hemoglobin concentration, Overweight, I... ORPHA:90041
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility OMIM:612649
Gitelman Syndrome
Hypokalemia, Delayed puberty, Increased circulating renin level, Polyuria, Enuresis, Nocturia, Fa... OMIM:263800
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Anosmia, Cryptorchidism, Aganglionic megacolon, Abnorm... OMIM:609136
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired social interactions, Gonadotropin deficiency, Central diabetes insipidus, Recurrent uppe... ORPHA:293987
Lead Poisoning
Abnormal sperm morphology, Infertility, Abnormality of the autonomic nervous system, Decreased fe... ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Primary adrenal insufficiency, Hypoglycemia, Hypogonadism OMIM:617872
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Obesity, Miscar... ORPHA:86816
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Cryptorchidism, Obesity, Truncal obesity, Depres... ORPHA:96184
Hyperostosis Cranialis Interna
Hyposmia, Facial palsy, Optic atrophy OMIM:144755
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Ciliary Dyskinesia, Primary, 22
Infertility, Nasal polyposis, Recurrent sinusitis, Rhinitis, Reduced sperm motility OMIM:615444
Schaaf-Yang Syndrome
Failure to thrive in infancy, Cryptorchidism, Micropenis, Obesity, Hypogonadism OMIM:615547
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Renal insuff... OMIM:614723
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Renal potassium wasting, Polyuria, Enuresis, Rena... OMIM:612780
Summitt Syndrome
Obesity OMIM:272350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity, Precocious puberty, Wide nose, Maturity-onset diabetes of the young ORPHA:254531
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Broad nasal tip, Bulbous nose, Obesity, Microcephaly, Depressed nasal bridge, Hypoplasia of the c... ORPHA:480907
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circulating creatinine con... OMIM:607665
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Hypogonadotropic hypogonadism, Cere... ORPHA:54595
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Nasal polyposis OMIM:613808
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Recurr... OMIM:202200
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Chung-Jansen Syndrome
Cryptorchidism, Anteverted nares, Obesity, Short nose OMIM:617991
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial ... OMIM:203800
Short Stature-Obesity Syndrome
Narrow nose, Obesity, Prominent nasal bridge OMIM:269870
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis, Obesity, Pituitary adenoma, Abdominal obesity, Increased circulatin... OMIM:219090
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age OMIM:609425
7Q11.23 Microduplication Syndrome
Impaired social interactions, Broad nasal tip, Self-injurious behavior, Anxiety, Aggressive behav... ORPHA:96121
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Clark-Baraitser Syndrome
Depressed nasal bridge, Obesity, Short nose OMIM:617752
Laron Syndrome
Hypoplastic nasal bridge, Depressed nasal ridge, Hypercholesterolemia, Aplasia/Hypoplasia involvi... ORPHA:633
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Obesity, Congenital hypothyroidism, Depressed nasal bridge, Diabetes mellitus, An... OMIM:614613
Down Syndrome
Hypothyroidism, Depressed nasal ridge, Obesity, Aganglionic megacolon, Depressed nasal bridge, Sh... ORPHA:870
Prader-Willi Syndrome
Adrenal insufficiency, Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea, Small scro... OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Microcephaly, Macroorchidism, Obesity, Male hypogonadism OMIM:300055
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Elevated circulating creatinine concentration, Proteinur... ORPHA:411634
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Panic attack, Lethargy, Emotional lability, Fatigable weakness... ORPHA:255
Adnp Syndrome
Impaired social interactions, Cerebral atrophy, Recurrent upper respiratory tract infections, Anx... ORPHA:404448
Moebius Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Facial palsy ORPHA:570
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Hyperlipidemia, Nephrolithiasis, Pigmented micronodular adrenocortical di... ORPHA:189439
Wagr Syndrome
Cryptorchidism, Obesity, Microcephaly, Displacement of the urethral meatus, Ambiguous genitalia ORPHA:893
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypochloremia,... OMIM:241200
Rafiq Syndrome
Underdeveloped nasolabial fold, Bulbous nose, Obesity, Wide nasal bridge, Truncal obesity, Wide n... OMIM:614202
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism, Bulbous nose OMIM:300238
Leprechaunism
Hypokalemia, Decreased body weight, Nephrocalcinosis, Enlarged kidney, Central hypothyroidism, In... ORPHA:508
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Bulbous nose, Micropenis, External genital hypoplasia, Truncal obesity, Hypogona... ORPHA:3041
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Obesity, Papilledema ORPHA:238624
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Nasal polyposis, Chronic rhinitis OMIM:242670
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... OMIM:603233
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Obesity, Cerebral white matter atrophy, Microcep... ORPHA:464282
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Cryptorchidism, Hypoplasia of penis, Truncal obesity, Microcephaly, Hypogonadism, ... ORPHA:127
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Convex nasal ridge, Abnormality of the kidney, Microcephaly, Failure to thrive, Low hang... OMIM:610543
Coach Syndrome 2
Agenesis of corpus callosum, Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Microtriplication 11Q24.1
Wide nose, Microcephaly, Obesity, Hyperlipidemia ORPHA:289522
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Joubert Syndrome 37
Cryptorchidism, Micropenis, Hydronephrosis, Obesity, Wide nasal bridge, Hypoplasia of the corpus ... OMIM:619185
Beta-Mercaptolactate Cysteine Disulfiduria
Anteverted nares, Obesity, Convex nasal ridge, Abnormality of the ureter ORPHA:1035
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Summitt Syndrome
Wide nose, Obesity, Depressed nasal ridge, Tall stature ORPHA:3210
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Niemann-Pick Disease Type C
Cerebral atrophy, Cognitive impairment, Low frustration tolerance, Abnormal social behavior, Deme... ORPHA:646
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia ... ORPHA:284160
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating creatinine concentration, Proteinuria... ORPHA:449395
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to ... ORPHA:79444
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Increased facial ad... OMIM:151660
Atkin-Flaitz Syndrome
Broad nasal tip, Anteverted nares, Obesity, Macroorchidism ORPHA:1193
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Hyperuri... ORPHA:94088
Progressive Supranuclear Palsy
Cognitive impairment, Memory impairment, Dementia, Bradykinesia, Abnormal synaptic transmission, ... ORPHA:683
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Nephrotic syndrome, Progressive microcephaly, Failure to thrive in in... ORPHA:488627
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur...