Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
insulin receptor
Synonyms:
IR,  CD220,  4932439J01Rik,  D630014A15Rik,  IR-B,  IR-A

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 Insr 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 Insr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Mody
Abnormal oral glucose tolerance, Abnormality of the kidney, Hyperinsulinemic hypoglycemia, Glucos... ORPHA:552
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Cataract 47
Glycosuria OMIM:612018
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmen... OMIM:308990
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Renal steatosis, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia,... OMIM:261680
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Hepatic failure, Elevated circulating aspartate amino... ORPHA:2088
Renal Glucosuria
Enuresis nocturna, Polyuria, Glycosuria OMIM:233100
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia OMIM:606528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes ... OMIM:616026
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Ele... ORPHA:263455
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Abnormalit... ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Re... OMIM:613388
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abnormal circulating li... OMIM:615980
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Marked muscular hypertr... ORPHA:435660
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy, Hypoglycemia ORPHA:366
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Acute hyperammonemia, Failure to thrive, Ketonuria, Acute hepatic steatosis OMIM:210200
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-re... ORPHA:435651
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ketotic hypoglycemia, Hepatic steatosis, Failure... ORPHA:26792
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insufficiency, Re... OMIM:134600
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Elevate... OMIM:231680
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... ORPHA:71529
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatomegaly, ... OMIM:231670
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Myopat... ORPHA:79087
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Increased hepatocellular lipid drop... OMIM:220110
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria, Acute hyperammonemia, Failure to thrive, Skeletal muscle atrophy, ... OMIM:210210
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insuli... ORPHA:2457
Autism, Susceptibility To, 3
Ketonuria, Increased serum serotonin OMIM:608049
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Skeletal muscle steatosis, Aminoaciduria, Diffuse hepatic steatosis, Glycosuri... ORPHA:436271
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Distal amyotro... OMIM:618400
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Methylmalonic acidemia, Failure to thrive OMIM:251120
Wilson Disease
Cirrhosis, Hyperphosphaturia, Chondrocalcinosis, Hepatocellular carcinoma, Aminoaciduria, Glycosu... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Hy... OMIM:617872
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Reduced muscle carniti... OMIM:212140
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased serum lactate, Short stature OMIM:616209
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insipidus, Hypogonadism, Di... ORPHA:181393
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hypoglycemia OMIM:615751
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Hyperglycemia, Contractures of the joints of the lower limbs,... ORPHA:99885
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Hyperglycinemia, Hepatomegaly, Methylmalonic aciduria, Methylmalonic acidemia, Fa... OMIM:251110
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal... OMIM:227810
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hyperphosphaturia, Transient aminoaci... OMIM:229600
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:370
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipo... ORPHA:2348
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Ketonuria, Left ventr... OMIM:619167
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperglycemia, Hyperuricemia, Hypoglycemia, Weight loss, Hepatomegaly, Ketonuria ORPHA:134
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Marked muscular hypertrophy, Hepatic steatosis,... ORPHA:79083
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hyp... ORPHA:228305
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Hyperglycinemia, Hepatomegaly, Methylmalonic aciduria, Methylmalonic acidemia, Fa... OMIM:251100
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Muscular dystrophy, Hypoglycemia, Hypertriglyceridemia, Adrenal insuff... OMIM:307030
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adipose tissue lo... OMIM:246200
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Elevated hepatic transa... ORPHA:369
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Dicarboxylic aciduria, Myoglo... OMIM:231530
Renal Tubular Acidosis, Proximal
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis, Short stature OMIM:179830
Lcat Deficiency
Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hyperammonemia, Elevated hepatic transaminase, Acute rhabdomyolysis, Premature pubarche, Hypothyr... OMIM:616878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased LDL cholesterol concentration, Decrea... OMIM:607616
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, Nonketotic hypoglycemia, Recurrent hypoglycemia, 3... ORPHA:20
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:264580
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Elevated hepatic transaminase, He... OMIM:201450
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Dent Disease
Renal insufficiency, Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperp... ORPHA:1652
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, EMG: myopathic abnormalities, Hyperammonemia, Compensated hypothyroidism, ... ORPHA:480864
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Renal tubular acidosi... OMIM:255120
Alpha-Ketoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:203740
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ketonuria, Distal amyotrophy ORPHA:1399
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hypoglycemia ORPHA:35
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Hepatomegaly OMIM:619053
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypersplenism, Cirrhosis, Increased hepatic echogenicity, Acute hepatic fai... OMIM:278000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemi... ORPHA:26793
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Metabolic acidosis OMIM:301021
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Renal insufficiency, Micropenis OMIM:613861
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Decreased muscle mass, Abnormality of ir... ORPHA:465508
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Decreased liver f... OMIM:617093
Rft1-Cdg
Hepatomegaly, Arthrogryposis multiplex congenita, Failure to thrive ORPHA:244310
Renal Cysts And Diabetes Syndrome
Impaired glucose tolerance, Elevated circulating creatinine concentration, Hyperuricemia, Biliary... OMIM:137920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... OMIM:500009
Ornithine Transcarbamylase Deficiency
Hepatic failure, Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Pancreatic Agenesis 1
Pancreatic hypoplasia, Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Exocrine ... OMIM:260370
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Inc... OMIM:616516
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Lactic acidosis, Growth delay, Increased serum lactate OMIM:616111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, Insulin resistance, Incr... ORPHA:280365
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Umbilical hernia, Failure to thrive, Ketonuria, Large for gestational age OMIM:614520
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Organic aciduria, Hyperammonemia, Abnormal circulatin... ORPHA:6
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Distal amyotrophy, E... OMIM:232400
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive in infancy, Delayed puberty, Skeletal muscle atrophy, Renal ... OMIM:219800
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Hypergonadotropic hypog... OMIM:230400
Richards-Rundle Syndrome
Hypogonadism, Ketonuria, Absence of secondary sex characteristics, Skeletal muscle atrophy OMIM:245100
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Muscular ... OMIM:613327
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proteinuria OMIM:245900
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipod... ORPHA:90970
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Increased serum pyruvate, Hypoglycemia OMIM:614741
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Renal steatosis, Hepatic steatosis, Hypothyroidism, Tendon xan... ORPHA:412
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239510
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Jaundice, Splen... OMIM:603552
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hyp... ORPHA:681
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Hypoglycemia, Glomerulopathy, Hemolytic-uremic syndrome, Jaundice, Hypomethionine... ORPHA:79282
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Cholestasi... OMIM:603358
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Pearson Syndrome
Hypocalcemia, Pancreatic fibrosis, Small for gestational age, Hypomagnesemia, Renal insufficiency... ORPHA:699
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal i... OMIM:617575
Perlman Syndrome
Hyperinsulinemia, Femoral hernia, Hepatomegaly, Inguinal hernia, Nephroblastoma, Hypoplasia of pe... ORPHA:2849
Retinitis Pigmentosa
Atypical scarring of skin, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:608594
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Elevated hepatic transaminase, ... ORPHA:247585
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic ... ORPHA:99901
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hypopitu... OMIM:619013
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent skin infections,... OMIM:300635
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentratio... ORPHA:79159
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Alstrom Syndrome
Diabetes insipidus, Hyperinsulinemia, Elevated hepatic transaminase, Chronic active hepatitis, Hy... OMIM:203800
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl... ORPHA:411629
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Hyperglycinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:245400
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Increased circulating chylomicron c... ORPHA:444490
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint ... OMIM:175700
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Ddost-Cdg
Elevated hepatic transaminase, Nephrotic range proteinuria, Hepatic steatosis, Lipodystrophy, Fai... ORPHA:300536
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:269700
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati... OMIM:613070
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Primary adrenal insufficiency, Hashimoto thyroiditis, Gl... ORPHA:589
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Tiglic Acidemia
Acidosis OMIM:275190
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increa... ORPHA:890
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Organic aciduria, Myopathy, Fatty replacement... OMIM:255100
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:228308
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Diabetes mellitus OMIM:202900
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Renal tubular acidosis, Hepatomegaly, Hepatic failur... ORPHA:156
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Diastasis recti, Arthrogryposis multiplex congenita, Postprandi... ORPHA:440713
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Proteinuria OMIM:614034
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Rhabdomyolysis, Hypoglyc... OMIM:212138
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Growth delay, Proximal renal tubular acidosis, Hyperchloremic acidosis, Bicarbonate-wasting renal... OMIM:604278
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Hand mu... ORPHA:98908
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic aciduria, Methy... ORPHA:289504
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Acidosis OMIM:204730
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Tendon xant... OMIM:603813
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Failure to thrive, Splenomegaly OMIM:618495
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Atypical Werner Syndrome
Delayed puberty, Type II diabetes mellitus, Skeletal muscle atrophy, Generalized lipodystrophy, H... ORPHA:79474
Insulin-Resistance Syndrome Type A
Delayed puberty, Type II diabetes mellitus ORPHA:2297
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Acute kidney injury, Hyperglycemia, Rhabdomyoly... ORPHA:466677
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Increased muscle lip... ORPHA:254864
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Immunodeficiency 76
Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Macrovesicular hepatic steatosis, Cardiomegaly, Renal insufficiency, U... OMIM:608836
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Leprechaunism
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Insulin resistance, Enlarged kidney, Recurren... ORPHA:508
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Hypertriglyceri... OMIM:619127
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Aminoaciduria, Hepat... OMIM:615486
Adrenomyodystrophy
Megacystis, Hepatic steatosis, Primary adrenal insufficiency, Abnormality of the urinary system, ... ORPHA:977
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, D... OMIM:611126
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Recurrent pn... OMIM:619281
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Proximal renal tubular acidosis, Hyperalani... OMIM:266150
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance ORPHA:75563
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increa... ORPHA:3008
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Harderoporphyria
Increased circulating ferritin concentration, Red urine, Hepatomegaly, Prolonged neonatal jaundic... OMIM:618892
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Increased hepatoc... ORPHA:71
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Hypog... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, Failure to thrive, Ragged-red muscle... OMIM:614924
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Lactic acidosis, Ketoacidosis, Episodic ketoacidosis, Increased serum lactate OMIM:615453
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure OMIM:617049
Mu-Heavy Chain Disease
Weight loss, Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Failure to thr... OMIM:615895
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Flexion contracture, Panniculitis, Lipodystrophy, Hepatomegaly, Hy... OMIM:617591
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Absent gallbladder, Aplasia of the left hemidiaphragm, Biliary atresia, Umbilical ... OMIM:600001
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hy... ORPHA:348
Immunodeficiency 60
Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Achalasia, Colitis, Celiac disease OMIM:618969
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Hepatic steatosis, Generaliz... ORPHA:52430
Necrotizing Enterocolitis
Peritonitis, Hyponatremia, Small for gestational age, Ascites, Hyperglycemia, Abnormal glucose ho... ORPHA:391673
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Failure to thrive ORPHA:570422
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Long penis, Insulin resistance, Enlarged ovaries, Postprandia... ORPHA:769
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Flexion contracture OMIM:300884
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis, Renal steatosis, Hepatic steatosis, Hypoglycemia, Jaundice, N... OMIM:228100
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Abnormal urine potassium con... ORPHA:275761
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Aminoaciduria, Generalized amyotrophy, Elevated circulating creatin... OMIM:609560
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Proximal tubulo... OMIM:212065
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly ORPHA:172
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Scapular winging, Increased intramyocellular lipid dr... ORPHA:26791
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Hypothyroidism, Abnormal circulating tyrosine concentration, Fail... ORPHA:2118
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, EMG: myopathic abnorm... ORPHA:98907
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pancreatic fibrosis, Type I diabetes mellitu... OMIM:557000
Glutamate-Cysteine Ligase Deficiency
Jaundice, Myopathy, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Hand muscle atrophy, Distal amyotrophy, Failure to thrive, Weakness of facial mus... OMIM:618811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Hyperlipidemia, E... ORPHA:79259
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Hyperinsulinemia, Increased blood urea nitrogen, Insulin resistance, N... ORPHA:230
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia OMIM:204000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Hypospadias, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:604273
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Thyrotoxicosis with toxic multinodular goiter, Increased intram... ORPHA:79102
Cystinosis
Hypophosphatemia, Nephrogenic diabetes insipidus, Hypothyroidism, Aminoaciduria, Nephropathy, Del... ORPHA:213
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Adrenomyodystrophy
Hepatic steatosis, Myopathy, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Failure to thrive secondary to recurrent infections, Splenomegaly OMIM:608971
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Cardiomegaly, Left ventricular hyper... OMIM:617713
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Renal tubular acidosis, Renal dysplasia, Hepatomegaly, Decre... OMIM:614922
Phenylketonuria
Aminoaciduria ORPHA:716
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79230
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hypertyrosinemia, Hypophosphatemic ric... OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Hyperalaninemia, Hyperpro... OMIM:619003
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Elevated hepatic transaminase, Hypoketotic hypo... ORPHA:159
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:603278
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Inguinal hernia, Pancreatitis, Failure to thrive, Homocyst... OMIM:236200
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Rhabdomyolysis, Aminoaciduria, H... OMIM:124000
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Portal ... OMIM:616278
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hypoglycemia, Renal salt wasting, Congenital hypothyroidism, Hyperkalemia, Precocio... OMIM:614736
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Glycogen Storage Disease Ia
Xanthelasma, Decreased muscle mass, Elevated hepatic transaminase, Focal segmental glomeruloscler... OMIM:232200
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal renal morphology, Abnormality of the urinary system, Hypertriglyce... OMIM:182290
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypothyroidism, Hypopituitarism, Left ventricular hypertrophy, Hyperglycemia ORPHA:90065
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Abnormality of the extraocular muscles, Decreased muscle mass, Elevated hepatic transa... ORPHA:298
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Calci... OMIM:239200
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Placental Insufficiency
Insulin resistance ORPHA:439167
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hepatic... OMIM:616263
Sialidosis Type 2
Flexion contracture, Nephropathy, Umbilical hernia, Hepatomegaly, Inguinal hernia, Ascites, Skele... ORPHA:87876
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperalaninemia, Hyperprolinemia ORPHA:79246
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Delayed puberty, Skeletal muscle atrophy, Hep... OMIM:615704
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Increased circulating ferritin concentration, Elevated hepatic transam... ORPHA:540
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
Hereditary Coproporphyria
Porphyrinuria, Atypical scarring of skin, Hepatocellular carcinoma, Dark urine, Hyponatremia, Nep... ORPHA:79273
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Elevated ... ORPHA:66634
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Facial palsy, Failure to thrive, Myopathy, Ethylmalonic aciduria OMIM:201470
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Cholestasis, Hepa... ORPHA:541423
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Elevated hepatic transaminase, Hepatomegaly, Failure to thri