Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
single-minded family bHLH transcription factor 1
Synonyms:
bHLHe14

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Sim1 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 Sim1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sim1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Mody
Abnormal circulating insulin concentration, Nephropathy, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia, Hyperinsulinemia OMIM:620195
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age OMIM:619278
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:173100
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Pituitary Hormone Deficiency, Combined, 3
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... OMIM:221750
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hyp... ORPHA:2089
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Hyper... ORPHA:99886
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276580
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... ORPHA:35878
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276575
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:182230
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Hypoketo... ORPHA:276556
Cataract 47
Glycosuria OMIM:612018
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational ag... OMIM:616026
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f... ORPHA:67045
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria, Failure to thrive OMIM:606824
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Large for gesta... ORPHA:263455
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Lissencephaly, X-Linked, 1
Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse... OMIM:300067
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria OMIM:222100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Elevated circulating pa... OMIM:613388
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Decreased ... OMIM:609734
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... ORPHA:2088
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polymicrogyria, Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Neonatal d... OMIM:619602
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:616192
Acquired Partial Lipodystrophy
Insulin resistance, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Failu... OMIM:227810
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr... OMIM:613038
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Failure to thrive, Beta 2-microgl... ORPHA:97362
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Alstrom Syndrome
Nephritis, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Decrease... OMIM:203800
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Cryptorchidism, Death in infancy, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism OMIM:612702
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Hemolytic anemia, Failure to thrive OMIM:612740
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos... OMIM:613404
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Failure to thrive, Glucose intolerance, Renal tubular dysfunction, Elevated hemoglobi... OMIM:616539
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thy... ORPHA:94086
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon... OMIM:615926
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Cog2-Cdg
Small pituitary gland ORPHA:435934
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol... OMIM:604213
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons... OMIM:603233
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:274300
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... ORPHA:436271
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... OMIM:615547
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... OMIM:612526
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia ORPHA:563612
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality... ORPHA:3157
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly... ORPHA:79085
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Failur... ORPHA:99885
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria OMIM:176200
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hyperinsulinemia, Decreased serum leptin, Type II diabetes mellitus, Splenomegaly, ... OMIM:269700
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... OMIM:220110
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal... OMIM:615993
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin... ORPHA:6
Acromelic Frontonasal Dysplasia
Hypopituitarism, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormality of th... ORPHA:411629
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Neonatal hy... OMIM:606407
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, G... OMIM:137920
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Failure to thrive, Hyper... OMIM:229600
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Obesity ORPHA:88643
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia OMIM:615453
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Hypernatriuria, Low-molecular-wei... ORPHA:47159
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Non-Acquired Isolated Growth Hormone Deficiency
Microphallus, Delayed puberty, Abdominal obesity, Neonatal hypoglycemia, Anterior hypopituitarism ORPHA:631
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Perlman Syndrome
Tall stature, Hyperinsulinemia, Femoral hernia, Inguinal hernia ORPHA:2849
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Bloom Syndrome
Leukemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Small for gestational age OMIM:210900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Micropenis, Diabetes mel... OMIM:610628
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Aminoaci... OMIM:219800
Joubert Syndrome 38
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... OMIM:619476
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Long penis, Hyperglycemia, Hyperinsulinemia, Panc... OMIM:246200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Luscan-Lumish Syndrome
Overgrowth, Obesity, Polyphagia, Aggressive behavior OMIM:616831
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... ORPHA:528
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous ad... OMIM:608594
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Obesity, Diabetes mellitus OMIM:605231
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Elevated ci... ORPHA:435660
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... ORPHA:2234
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea... OMIM:619004
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Renal insufficiency, Displacement of the urethral meatus, Hyp... ORPHA:2377
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... ORPHA:398069
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Cryptor... OMIM:613457
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Graves disease, Goiter, Puberty and gonadal disorders, Increased c... ORPHA:525731
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Cryptorchidism, Anterior pituitary hypoplasia OMIM:206900
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Nephronophthisis 15
Obesity OMIM:614845
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... ORPHA:72
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty ORPHA:251004
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re... ORPHA:699
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss,... ORPHA:134
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Trisomy 5P
Obesity ORPHA:1742
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Failure to thrive in infancy, Dec... OMIM:176270
Narcolepsy Type 1
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Restlessness ORPHA:2073
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hyperammonemia, Hypoglycemia ORPHA:664
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Glucose intolerance, Proteinuria, Hypertriglyceridemia, Eleva... OMIM:619127
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Neutropenia, Thrombocyto... ORPHA:391673
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Splenomegaly, Incre... OMIM:277900
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormalit... ORPHA:264200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonadal insufficiency, Small f... OMIM:210740
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism OMIM:610125
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Impulsivity OMIM:617991
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Nephrocalcinosis, Long penis,... ORPHA:769
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Anterior pi... ORPHA:177907
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hypospadias OMIM:175700
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Aggressive behavior, Large for gestational age, Agitation OMIM:616116
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal... OMIM:269880
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Diabetes mellitus, Hyperactivity OMIM:614613
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss ORPHA:95427
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism OMIM:619908
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Pica, Overweight, Recurrent hand flapping OMIM:615032
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hyperinsulinemic hypoglycemia OMIM:602579
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Diabetes mellitus, Hypertriglyceridemia OMIM:615381
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Agenesis of corpus callosum, Neonatal death, Agyria, Lissencephaly OMIM:616342
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia, Lissencephaly, ... ORPHA:300573
Tubulinopathy-Associated Dysgyria
Pachygyria, Agyria, Abnormal thalamus morphology, Dysgyria ORPHA:467166
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Urinary retention, Hypomagnesem... ORPHA:79102
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... ORPHA:261222
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hyperuricemia, Maternal di... ORPHA:79083
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Abnormality of the urinary system, ... ORPHA:813
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity OMIM:601794
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis, Obesity, Glucose intolerance, Splenomegaly, Impaired gl... OMIM:615630
Hereditary Coproporphyria
Nephropathy, Dark urine, Abnormal circulating porphyrin concentration, Increased urinary porphobi... ORPHA:79273
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Rafiq Syndrome
Aggressive behavior, Obesity, Flexion contracture, Truncal obesity OMIM:614202
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Small for gestational age, Failure to thrive OMIM:214150
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mellitus OMIM:609069
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:464306
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum ORPHA:2512
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Death in childhood, Decreased pineal volume OMIM:301108
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Neonatal death OMIM:614870
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:612462
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Hyperlipidemia ORPHA:199276
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Abnormal circulating lipid conce... OMIM:616541
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Simplified gyral pattern OMIM:619072
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Anterior pituitary hypoplasia OMIM:151050
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Failure to thrive, Hyp... ORPHA:79474
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Renal insufficiency, Abnormal renal tubule morphology, Hypochromic mi... ORPHA:440713
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hydronephrosis OMIM:615996
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Flexion contracture, Dysp... OMIM:613327
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid h... ORPHA:91
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Leukocytosis, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism, Death in infancy OMIM:241800
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid... ORPHA:508
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... ORPHA:2232
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus OMIM:615710
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Hydranencephaly
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema ORPHA:2177
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ... ORPHA:293987
Baralle-Macken Syndrome
Obesity OMIM:619255
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Graves disease, Anterior pituitary dysgenesis, Autoimmune hypo... ORPHA:227982
Scorpion Envenomation
Acute kidney injury, Ketonuria, Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating cre... ORPHA:466677
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus ORPHA:2348
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Fetal pyelectasis ORPHA:96168
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... OMIM:276700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Streak ovary, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Angelman Syndrome Due To A Point Mutation
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:411511
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... ORPHA:412035
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Laurence-Moon Syndrome
Obesity OMIM:245800
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Autoimmune Polyendocrinopathy Type 4
Thymoma, Type I diabetes mellitus, Anterior pituitary dysgenesis, Central diabetes insipidus, Hyp... ORPHA:227990
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n... OMIM:181450
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Flexion contracture, Restlessness OMIM:300055
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Hepatic Veno-Occlusive Disease
Increased body weight, Renal insufficiency, Increased total bilirubin ORPHA:890
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome