Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wolframin ER transmembrane glycoprotein
Synonyms:
Wolfram syndrome 1 homolog (human),  wolframin

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 Wfs1 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 predicted to be associated to Wfs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 10
Intrauterine growth retardation, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of... OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Intrauterine growth retardation, Transient neonatal diab... OMIM:601410
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased serum insulin-like growth factor 1, Growth de... ORPHA:314811
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Bangstad Syndrome
Small for gestational age, Goiter, Insulin-resistant diabetes mellitus, Severe short stature, Pro... OMIM:210740
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Short stature, Insulin-resistant d... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... ORPHA:314802
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... OMIM:262700
Childhood Disintegrative Disorder
Dementia, Anxiety, Social and occupational deterioration, Bowel incontinence, Mental deterioratio... ORPHA:168782
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Short stature, Hypogonadism, Ataxia, Postnatal gr... OMIM:616113
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Type 1 Diabetes Mellitus
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age, Hyperglycemia, Glycosuria, Type I diabetes mellitus OMIM:618857
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... OMIM:262400
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Weight loss, Hyperactivity, Graves disease OMIM:275000
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Diabetes mellitus, Typ... OMIM:606176
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age OMIM:618858
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Short stature OMIM:616311
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thrive, Decreased response to... ORPHA:71526
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... ORPHA:453533
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Dysphagia, Dysmetria, Focal dystonia, Progressive cerebel... OMIM:605361
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder, Impaired sensitivity to thyroid hormone, Increased circ... OMIM:188570
Mody
Intrauterine growth retardation, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Small for gestational age, Goiter OMIM:274300
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Lack of peer... ORPHA:96369
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Excessive insulin ... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Mahvash Disease
Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent... OMIM:619290
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... ORPHA:412066
Juvenile Huntington Disease
Dystonia, Dementia, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar atax... ORPHA:248111
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia, Short stature ORPHA:329249
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity, Decreased te... OMIM:614962
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Wolfram-Like Syndrome
Dementia, Severe postnatal growth retardation, Glucose intolerance, Progressive cerebellar ataxia... ORPHA:411590
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Chorea, Cognitive impairment, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, L... ORPHA:2089
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Hyperglycemia, Precocious puberty, Pancrea... OMIM:246200
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Intrauterine growth retardation, Short stature OMIM:608747
Medullary Thyroid Carcinoma
Dysphagia, Weight loss, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism,... ORPHA:1332
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Short stature DECIPHER:8
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperactivity, Hyperthyroidi... ORPHA:424
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Small for gestational age, Goiter, Hyperactivity, Hyperthyroidism OMIM:609152
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Dysphagia, Dysmetria, Chorea, Ataxia, Irritability, Mental deterioration, Anx... OMIM:618093
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, Hyperinsulinem... ORPHA:276556
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Huntington Disease
Gait imbalance, Decreased body mass index, Choking episodes, Apathy, Irritability, Oral-pharyngea... ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Polydipsia, Weight loss, Lethargy ORPHA:30925
Immunodeficiency 8
Hyperactivity OMIM:615401
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyroid-stim... ORPHA:99819
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Anaplastic Thyroid Carcinoma
Dysphagia, Goiter, Weight loss, Anaplastic thyroid carcinoma, Nodular goiter ORPHA:142
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Ataxia, Hypoglycemia, Failure to thrive OMIM:220111
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Short stature, Small for gestational age ORPHA:85288
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Hyperi... OMIM:604367
Thyroid Dyshormonogenesis 1
Hypothyroidism, Growth delay, Goiter, Lethargy OMIM:274400
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Dystonia, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity OMIM:309548
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Lethargy, Hyperglycemia, Hypogonadotropic hypogonadism, Weight loss, Diabetes... ORPHA:465508
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Attention deficit hyperactivity disorder... ORPHA:35878
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hyperthyroidism, Goiter OMIM:613239
Fraxe Intellectual Disability
Intrauterine growth retardation, Short stature, Aggressive behavior, Hyperactivity, Impulsivity ORPHA:100973
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Short stature, Goiter ORPHA:226292
Familial Thyroid Dyshormonogenesis
Lethargy, Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circu... ORPHA:95716
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus OMIM:609069
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Growth delay, Goiter, Neoplasm of... ORPHA:163634
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Short Syndrome
Intrauterine growth retardation, Small for gestational age, Insulin-resistant diabetes mellitus, ... OMIM:269880
Brain-Lung-Thyroid Syndrome
Dystonia, Hypoparathyroidism, Abnormal drinking behavior, Congenital hypothyroidism, Growth delay... ORPHA:209905
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive OMIM:618362
Pulmonary Blastoma
Weight loss ORPHA:64741
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:319487
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Lethargy OMIM:255900
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Bangstad Syndrome
Intrauterine growth retardation, Short stature, Increased circulating cortisol level, Polycystic ... ORPHA:1227
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Birth length less than 3rd percentile, Inability to walk... OMIM:300148
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Short stature OMIM:300271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Short stature, Aggressive behavior, Shuffling gait, Hyper... ORPHA:3077
Pediatric-Onset Graves Disease
Increased circulating T4 level, Intrauterine growth retardation, Goiter, Polyphagia, Failure to t... ORPHA:525731
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Weight loss, Hypoinsulinemia, Hypoglycemia ORPHA:2126
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidi... ORPHA:99832
Glycogen Storage Disease Vi
Failure to thrive in infancy, Postnatal growth retardation, Hypoglycemia OMIM:232700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty, Short stature OMIM:616033
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait, Obesity ORPHA:411515
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Unsteady gait, Hypoglycemia OMIM:610090
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Short stature, Polyphagia, Recurrent hypogl... ORPHA:254516
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Macroorchidism, Growth delay, Goiter, Thyroid hypoplasia, Failure to thrive, Pituitary ... ORPHA:90674
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... ORPHA:226313
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:97290
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Short stature ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety, Short stature OMIM:300979
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Thyroid Lymphoma
Dysphagia, Goiter, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Tuberculosis
Weight loss ORPHA:3389
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Anxiety, Depression OMIM:615483
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Intrauterine growth retardation, Severe... ORPHA:769
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss ORPHA:98934
Thyrocerebroretinal Syndrome
Ataxia, Goiter OMIM:274240
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss, Diabetes mellitus, Short stature ORPHA:317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Decreased body weight, Short stature OMIM:618342
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Short stature, Chorea, ... ORPHA:309246
Inflammatory Pseudotumor Of The Liver
Weight loss, Diabetes mellitus ORPHA:90003
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hypoglycemia, Primary adrenal insufficiency, Failure to thrive OMIM:617872
Blepharochalasis And Double Lip
Goiter OMIM:109900
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Growth delay, Failure to thrive, Impaired glucose tolerance, Glycosuria, Di... ORPHA:2088
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight ... ORPHA:99885
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Short stature, Thyroid hypoplasia, Decreased circulating free T4 level, I... OMIM:301035
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Short stature OMIM:615541
Central Diabetes Insipidus
Diabetes insipidus, Polydipsia, Failure to thrive, Weight loss, Lethargy ORPHA:178029
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter OMIM:180295
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Pendred Syndrome
Thyroid carcinoma, Goiter, Ataxia, Hyperparathyroidism, Hypothyroidism ORPHA:705
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Short stature, Polycystic ovaries, Hypergonadotropic hypogonadism, Obe... ORPHA:3085
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Short stature, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hy... OMIM:262600
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... OMIM:202200
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Weight loss, Ataxia, Oral aversion ORPHA:134
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Short stature, Failure to thrive, Abnormality of the hypothalam... ORPHA:95496
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Genetic Transient Congenital Hypothyroidism
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... ORPHA:226316
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age, Lethargy ORPHA:391673
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Cryptorchidism, Precocious puberty OMIM:614736
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Growth delay, Small for gestational age, Short stature, Cryp... OMIM:307030
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Dystonia, Hypoglycemia, Small for gestational age OMIM:614702
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia OMIM:608612
Igg4-Related Thyroid Disease
Dysphagia, Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotox... ORPHA:64744
Perry Syndrome
Dystonia, Inappropriate behavior, Suicidal ideation, Weight loss, Apathy, Bradykinesia, Short ste... OMIM:168605
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Obesity, Hyperinsulinemia ORPHA:791
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Failure to thrive, Aggressive behavior, Hyperactivity, Decreased response to growt... OMIM:615286
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Ataxia, Abnormality of the th... ORPHA:2047
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Short stature, Small for gestational age, Neonatal hypoglycemia, Postnatal growth r... ORPHA:231140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance, Postnatal growth ... OMIM:248370
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia OMIM:612716
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... ORPHA:361
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inabili... ORPHA:500180
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Adrenal insufficiency, Aggressive behavior, Cognitive impairment, Ina... ORPHA:43
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Hypoglycemia, Intrauterine growth retardation, Small for ... ORPHA:73272
Moynahan Syndrome
Hypogonadism, Cachexia, Short stature ORPHA:2574
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonat... ORPHA:263455
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Growth delay, Lethargy OMIM:274270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Diencephalic Syndrome
Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Hypothyroidism
Goiter, Short stature, Hypogonadism, Abnormality of the thyroid gland, Anterior hypopituitarism, ... ORPHA:442
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased adiponecti... ORPHA:79085
Galactokinase Deficiency
Hypoglycemia, Small for gestational age, Failure to thrive, Premature ovarian insufficiency, Hype... ORPHA:79237
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... ORPHA:556037
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Growth delay, Failure to thrive ORPHA:163693
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Hyperactivity, A... ORPHA:363400
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Intellectual Developmental Disorder, X-Linked 107
Obesity, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder OMIM:301013
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Weight los... ORPHA:97289
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Young-Onset Parkinson Disease
Dementia, Nausea, Cognitive impairment, Frontal lobe dementia, Apathy, Gastroparesis, Impulsivity... ORPHA:2828
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Failure to thrive, Abno... ORPHA:556030
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Impulsivity, Anxiety ORPHA:101039
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Cachexia, Slender build, Ataxia OMIM:613662
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Growth delay, Failure to thrive, Increased circulating c... OMIM:610600
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Leptin Receptor Deficiency
Short stature, Polyphagia, Aggressive behavior, Pituitary hypothyroidism, Abnormal eating behavio... OMIM:614963
Autosomal Dominant Progressive External Ophthalmoplegia
Gait disturbance, Dysphagia, Goiter, Failure to thrive, Glucose intolerance, Bradykinesia, Ataxia... ORPHA:254892
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Neoplasm of the thyroid gland, Short stature ORPHA:388
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Happy demeanor, Intrauterine growth retardation, ... OMIM:614104
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Intrauterine growth retardation, Hypoglycemia, Failure to thrive, Cryptorchidism OMIM:618958
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:226307
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Late-Onset Isolated Acth Deficiency
Lethargy, Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Decreased circulating... ORPHA:199299
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... ORPHA:95619
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Hyperactivity, Impulsivity, Depression ORPHA:88616
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Leprechaunism
Severe intrauterine growth retardation, Central hypothyroidism, Fasting hypoglycemia, Insulin res... ORPHA:508
Acquired Central Diabetes Insipidus
Weight loss, Diabetes insipidus, Polydipsia ORPHA:95626
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Diabetes mellitus, Exocrine pancre... OMIM:167800
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Choking episodes, Hyperactivity, Ataxia, Emotional lability, Impulsiv... ORPHA:35069
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Short stature, Polyphagia, Hyperglycemia, Premature adrenarche, Polydipsi... ORPHA:293987
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Bradykinesia, Increased serum leptin, Inability to... ORPHA:778
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxi... ORPHA:485350
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Broad-based gait, Decreased body weight, Precocious puberty OMIM:300958
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Growth delay, H... ORPHA:189439
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Intrauterine growth retardation, Annular pancreas, Hyperglycemia, Absent g... OMIM:615710
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Loss of ability to walk, Oral-pharyngeal dy... ORPHA:98897
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Intrauterine growth retardation ORPHA:369939
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Disinhibition, Abnormal social behavior, Memory impairment ORPHA:1020
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Riboflavin Transporter Deficiency
Cachexia, Dysphagia, Diabetes insipidus, Hypogonadism, Ataxia ORPHA:97229
Gomez-Lopez-Hernandez Syndrome
Short stature, Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Decreased re... OMIM:601853
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Hyperactivity, Emotional lability, Dysdiado... OMIM:610217
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Growth delay, Short stature, Failure to thrive, Delayed puberty ORPHA:369
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... ORPHA:79102
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Oromandibular Dystonia
Dysphagia, Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Generalized dystonia, ... ORPHA:93958
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Alstrom Syndrome
Diabetes insipidus, Short stature, Insulin-resistant diabetes mellitus, Multinodular goiter, Trun... OMIM:203800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia, Type I diabetes mellitus ORPHA:1979
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Broad-based gait ORPHA:457260
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Growth delay, Short stature, Polyphagia, Self-injurious behavior, ... ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature OMIM:300434
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Diabetes mellitus, Hypothyr... ORPHA:3198
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum lept... ORPHA:435660
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... ORPHA:163681
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Poor eye contact ORPHA:444002
Citrullinemia Type Ii
Hyperlipidemia, Decreased body mass index, Aggressive behavior, Abnormal eating behavior, Hyperch... ORPHA:247585
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615108
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Short stature OMIM:300558
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Goiter, Thyroid hypoplasia, Elevated ci... OMIM:218700
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Dopa-Responsive Dystonia
Panic attack, Vomiting, Agoraphobia, Irritability, Emotional lability, Abnormal social behavior, ... ORPHA:255
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased serum leptin, Decreased adipon... ORPHA:435651
Reticular Dysgenesis
Failure to thrive, Weight loss, Aplasia/Hypoplasia of the thymus ORPHA:33355
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Hypoglycemia OMIM:617156
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Galactose Epimerase Deficiency
Weight loss, Growth delay ORPHA:79238
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Short stature, Chorea, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Aredyld Syndrome
Cachexia, Type II diabetes mellitus, Intrauterine growth retardation, Short stature, Type I diabe... ORPHA:1133
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Growth delay, Thyroid hypoplasia, Failure to thrive, Severe short stature, Hypot... ORPHA:3047
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Renpenning Syndrome
Cachexia, Growth delay, Severe short stature, Diabetes mellitus, Decreased testicular size ORPHA:3242
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Hyperglycemia OMIM:151660
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... OMIM:615109
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hypoglycemia... ORPHA:85138
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Intrauterine growth retardation, Small for gestational age, Postnatal growth retard... ORPHA:397590
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Alazami-Yuan Syndrome
Hyperactivity, Short stature OMIM:617126
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Pyruvate Carboxylase Deficiency
Dystonia, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive, Ataxia, Tip-toe gait ORPHA:3008
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Isaac Syndrome
Weight loss ORPHA:84142
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Weight loss, Inability to walk, Generalized dystonia, Tip-toe gait, ... ORPHA:216866
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Smith-Magenis Syndrome
Short stature, Impaired pain sensation, Self-mutilation, Hypercholesterolemia, Hyperactivity, Hyp... OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Short stature, Aggressive behavior, Hypogonadism, Hyperactivity, Abdominal obesity, ... OMIM:300354
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Failure to thrive, Recurrent hypoglycemia, Impaired gluconeogenesis, Lethargy OMIM:212140
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Intrauterine growth retardation OMIM:615824
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... ORPHA:785
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, P... OMIM:162300
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Severe short stature, Delayed... ORPHA:633
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chromosome 2Q37 Deletion Syndrome
Short stature, Self-injurious behavior, Aggressive behavior, Hyperactivity, Obesity, Pain insensi... OMIM:600430
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Atypical Werner Syndrome
Ovarian neoplasm, Type II diabetes mellitus, Abnormality of circulating leptin level, Short statu... ORPHA:79474
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Impaired pain sensation, Failure to thrive, Self-... ORPHA:412035
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Hyperparathy... OMIM:171400
Vipoma
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... ORPHA:97282
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... OMIM:158350
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Short stature, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Happy demeanor, Gait imbalance, Inappropriate laughter, Abnormal eating behavior, Hype... ORPHA:98794
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Intrauterine growth retardation, Short stature, Insulin r... ORPHA:813
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Short stature OMIM:617302
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hy... ORPHA:71212
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Hyperthyroidism, Irritability, Diabe... ORPHA:449291
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Hypoglycemia, Failure to thrive,... ORPHA:95409
Congenital Generalized Lipodystrophy
Precocious puberty in females, Insulin resistance, Failure to thrive, Polycystic ovaries, Diabete... ORPHA:528
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysphagia, Dysmetria, Primary adrenal insufficiency, Hyperactivity, Inability t... ORPHA:139396
Christianson Syndrome
Dystonia, Cachexia, Dysphagia, Truncal ataxia, Gait ataxia ORPHA:85278
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss, Abnormal circulating aldosterone, Proportionate short ... ORPHA:171876
Pallister-Hall Syndrome
Intrauterine growth retardation, Short stature, Decreased testicular size, Adrenal hypoplasia, Pa... OMIM:146510
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Congenital hypothyroidism, Mild short stature, Hyperactivity, Di... OMIM:614613
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased ... ORPHA:85327
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Thyroid Ectopia
Ectopic thyroid, Growth delay, Short stature, Hypothyroidism, Abnormality of the thyroid gland ORPHA:95712
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Short stature, Lethargy OMIM:618120
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Short Syndrome
Weight loss, Severe short stature, Diabetes mellitus, Insulin resistance ORPHA:3163
Somatostatinoma
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... ORPHA:97283
Poems Syndrome
Weight loss, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Ac... ORPHA:2905
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Chromosome 10Q26 Deletion Syndrome
Short stature, Small for gestational age, Aggressive behavior, Hyperactivity, Postnatal growth re... OMIM:609625
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Small for gestational age, Short stature ORPHA:352490
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Severe postnatal growth retardation, Short stature ORPHA:440713
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Growth delay OMIM:616809
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Hypoglycemia, Lethargy ORPHA:42
16P12.1P12.3 Triplication Syndrome
Skin-picking, Intrauterine growth retardation, Failure to thrive, Decreased response to growth ho... ORPHA:485405
Secondary Short Bowel Syndrome
Central hypothyroidism, Growth delay, Polyphagia, Failure to thrive, Weight loss, Primary hypothy... ORPHA:95427
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Celiac Disease, Susceptibility To, 1
Short stature, Failure to thrive, Weight loss, Ataxia, Thyroiditis, Postnatal growth retardation,... OMIM:212750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus ORPHA:371428
Potocki-Lupski Syndrome
Short stature, Small for gestational age, Hypocholesterolemia, Failure to thrive, Hyperactivity, ... OMIM:610883
Thyroid Hypoplasia
Thyroid hypoplasia, Short stature, Growth delay, Hypothyroidism ORPHA:95720
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Thymic Carcinoma
Weight loss, Neoplasm of the thymus ORPHA:99868
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Heart Defects, Congenital, And Other Congenital Anomalies
Intrauterine growth retardation, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Glycosu... OMIM:600001
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Adenylosuccinase Deficiency
Happy demeanor, Growth delay, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Self-biting, Aggressive behavior, Hypogonadism, Hyperactivity, Precocious puberty ORPHA:3306
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hypoglycemia, Hyperactive renin-angiotensin system, Failure ... ORPHA:90790
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:618430
Mcdonough Syndrome
Cryptorchidism, Cachexia, Short stature ORPHA:2471
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Short stature ORPHA:391307
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Weight loss, Bradykinesia, Gait ataxia ORPHA:157941
Cowden Syndrome
Goiter, Short stature, Failure to thrive, Adenoma sebaceum, Neoplasm of the thyroid gland, Follic... ORPHA:201
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Cirrho... ORPHA:79086
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Weight loss, Pulmonary carcinoid... ORPHA:97287
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Emotional lability, Abnormal social behavior, Bo... ORPHA:309271
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypoglycemia, Adenoma sebaceum, Increased circulating cortisol level, Ins... OMIM:131100
Carney Complex, Type 1
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... OMIM:160980
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Wiedemann-Steiner Syndrome
Dysphagia, Intrauterine growth retardation, Short stature, Failure to thrive, Aggressive behavior... ORPHA:319182
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Cri-Du-Chat Syndrome
Growth delay, Small for gestational age, Aggressive behavior, Conspicuously happy disposition, Se... OMIM:123450
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Whipple Disease
Cachexia, Polydipsia, Insulin resistance, Ataxia, Hypothyroidism ORPHA:3452
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Lethargy OMIM:210200
Angelman Syndrome
Precocious puberty in females, Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Ob... ORPHA:72
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Short stature, Po... OMIM:176270
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypothyroidism, Cryptorchidism OMIM:617575
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100080
Coffin-Siris Syndrome 7
Hyperactivity, Short stature OMIM:618027
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Cachexia, Arm dystonia, Dysphagia, Axial dystonia, Oromandibular dystonia, Retrocollis,... ORPHA:300605
Dend Syndrome
Hyperglycemia ORPHA:79134
Wolman Disease
Growth delay, Adrenal insufficiency, Cachexia, Adrenal calcification ORPHA:75233
Hsd10 Disease
Abnormal social behavior, Dysphagia ORPHA:391417
Glucagonoma
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... ORPHA:97280
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Postnatal growth re... ORPHA:2457
Ppoma
Adrenocortical adenoma, Increased circulating cortisol level, Weight loss, Neoplasm of the pancre... ORPHA:97278
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Familial Pancreatic Carcinoma
Weight loss, Ovarian carcinoma, Diabetes mellitus, Pancreatic adenocarcinoma ORPHA:1333
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Growth delay, Bile duct proliferation, Postnatal growth retar... OMIM:613027
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Dysphagia, Choreoathetosis, Bradykinesia, Blepharospasm, Hy... OMIM:234200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimu... ORPHA:444077
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Failure to thrive, Aggressive behavior, Shuffling gait, Hyperactivity, Decreased b... OMIM:300534
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Short stature, Failure to thrive, Absenc... ORPHA:90796
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ OMIM:616858
Carney-Stratakis Syndrome
Weight loss, Dysphagia, Paraganglioma ORPHA:97286
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Growth delay, Lethargy ORPHA:79242
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Rhizomelia, Severe short-limb dwarfism ORPHA:1842
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Weight loss, Proportionate short stature, Severe short stature, ... ORPHA:3208
Follicular Lymphoma
Weight loss ORPHA:545
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Paraganglioma ORPHA:94080
Mast Cell Sarcoma
Weight loss ORPHA:66661
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Dysphagia, Hyperinsulinemia, Insulin resistance OMIM:613327
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Self-biting, Failure to thrive, Aggressive behavior, Bulimia, Hyperactivi... OMIM:300912
Lynch Syndrome
Gait disturbance, Ovarian neoplasm, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the pancr... ORPHA:144
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Focal Myositis
Weight loss ORPHA:48918
Familial Colorectal Cancer Type X
Gait disturbance, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the pancreas, Neoplasm of t... ORPHA:440437
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Intrauterine growth retardation, Decreased serum insulin-like growth factor 1, ... ORPHA:363528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Hypoglycemia, Short stature, Failure to thrive, Hypothyroidism OMIM:618005
Sheehan Syndrome
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Fatal Familial Insomnia
Ataxia, Weight loss, Dysphagia OMIM:600072
Grfoma