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Gene: Insr MGI:96575

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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:
CD220,  IR,  D630014A15Rik,  IR-B,  4932439J01Rik,  IR-A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Hyperinsulinemia, Hyperglycemia OMIM:616214
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis 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, Maternal diabetes, Hyperglycemia OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus 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
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... ORPHA:552
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic steatosis OMIM:261650
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, G... ORPHA:2089
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, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Familial Renal Glucosuria
Renal tubular dysfunction, Nephropathy, Recurrent urinary tract infections, Glycosuria ORPHA:69076
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Hepatomegaly, Hepatic failure, Hypoglycemia, Renal steatosis, Elevated circulating ala... OMIM:261680
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia OMIM:618857
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... ORPHA:35878
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... ORPHA:2088
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction OMIM:606528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Loss... OMIM:604367
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... ORPHA:263455
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemi... OMIM:210200
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Nephrogenic diabetes insipidus, Cholestatic liver disease, Giant cell hepatiti... OMIM:613404
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic steat... ORPHA:79084
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... OMIM:613388
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Elevated hepatic transam... OMIM:616026
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant ... OMIM:613877
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... OMIM:619355
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... ORPHA:435651
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Glutaric Acidemia I
Failure to thrive, Ketonuria, Hepatomegaly, Elevated circulating glutaric acid concentration, Hyp... OMIM:231670
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... OMIM:134600
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Increa... ORPHA:26792
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Elevated circulating gl... OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... OMIM:619048
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... OMIM:615980
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Hypoglycemia... OMIM:210210
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalo... OMIM:251120
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen... OMIM:262190
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Microscopic hematuria, Proteinuria, Glomerulopathy, Hepatic stea... ORPHA:79087
Glutaric Acidemia Type 3
Failure to thrive, Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of ci... ORPHA:35706
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Autism, Susceptibility To, 3
Increased serum serotonin, Ketonuria OMIM:608049
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Galactokinase Deficiency
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... ORPHA:79237
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... ORPHA:436271
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... OMIM:617872
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... OMIM:618400
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hy... OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, S... ORPHA:528
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... ORPHA:181393
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:616192
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentr... OMIM:619386
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... OMIM:220110
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Ketonuria OMIM:615751
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... ORPHA:99885
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Hyperglycinem... OMIM:251110
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Reduced subcutaneous adipose tissue, Failure to thrive, Hypophosphatem... OMIM:227810
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... ORPHA:369
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Beta-Ketothiolase Deficiency
Ketonuria, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia ORPHA:134
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fructose Intolerance, Hereditary
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Transient aminoaciduria, Hyperbiliru... OMIM:229600
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Insulin resistance, Lipoatrophy, Skeletal m... ORPHA:2348
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompaction, Neonatal d... OMIM:619167
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... OMIM:230350
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... ORPHA:370
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Ketonuria, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Hyperglycinem... OMIM:251100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Ma... ORPHA:79083
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Renal Tubular Acidosis, Proximal
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis, Short stature OMIM:179830
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Myoglobinuria, Dicarboxylic aciduria, Hypogl... OMIM:231530
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Muscular dystrophy, Increased urinary glycerol,... OMIM:307030
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Premature thelarche,... OMIM:616878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Insulin-resistant diabetes... ORPHA:90301
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... ORPHA:20
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... ORPHA:75234
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... OMIM:605814
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypogonadism, Hy... OMIM:615381
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased urinary cortiso... OMIM:615954
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carn... OMIM:201450
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, EMG: myopathic abnor... ORPHA:480864
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Lower limb musc... OMIM:617950
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased bo... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Increased bod... ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... OMIM:255120
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ketonuria, Distal amyotrophy ORPHA:1399
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Hepatomegaly OMIM:619053
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Organic aciduria ORPHA:35
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Hypogonadism OMIM:277700
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... OMIM:219800
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis, Intrauterine growth retardation, Neonatal death OMIM:301021
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Renal tubular dysfunction, Elevated hemoglobin A1c, Glucose intolerance, Glycosuria OMIM:616539
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Failure to thrive OMIM:612718
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Aminoaciduria, Splenomegaly ORPHA:664
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... OMIM:614300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Duplicated collecting... OMIM:617093
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... ORPHA:417
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Juvenile Nephropathic Cystinosis
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... ORPHA:411634
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Ketonuria, Aminoaciduria, Large for gestational age, Umbilical hernia OMIM:614520
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia OMIM:613646
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Loss of subcutane... ORPHA:280365
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Increased serum lactate, Growth delay, Lactic acidosis OMIM:616111
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... ORPHA:6
Galactosemia I
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... OMIM:230400
Richards-Rundle Syndrome
Ketonuria, Skeletal muscle atrophy, Absence of secondary sex characteristics, Hypogonadism OMIM:245100
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Skeletal musc... ORPHA:90970
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:616516
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency OMIM:613861
Orthostatic Hypotension 2
Hypoglycemia, Anemia, Decreased glomerular filtration rate OMIM:618182
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Abnormal circulating creatine kinase conc... ORPHA:369840
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Weight loss, Jaundice ORPHA:79238
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Myopathy OMIM:618234
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal mu... OMIM:613327
Mpi-Cdg
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria, Saccharopinuria OMIM:268700
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Organic aciduria OMIM:614741
Stimmler Syndrome
Type II diabetes mellitus, Aminoaciduria ORPHA:3199
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... ORPHA:209919
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Increased serum... OMIM:500009
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Ketonuria, Hyperammonemia, Hypomethioninemia, Methylmalonic aciduria, Elevated... ORPHA:79282
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... OMIM:618549
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Gracile Syndrome
Increased circulating ferritin concentration, Aminoaciduria, Increased serum pyruvate, Cholestasi... OMIM:603358
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hype... OMIM:608594
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segment... OMIM:617575
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Limb hypertonia, Neonatal death, Hyperalaninemia, Hepatic steatosis OMIM:615918
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal herni... ORPHA:2849
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Increased muscle glycogen content, Hepatomegaly OMIM:261750
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189427
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Hypertriglyceridemia, Hypoalbu... OMIM:619013
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dicarboxylic aciduria, Decreased plasma carnitine, Elevated circulating acy... ORPHA:79159
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glyco... ORPHA:411629
Lipodystrophy, Congenital Generalized, Type 2
Nephrolithiasis, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A... OMIM:269700
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Acute hepatic failure, Hyper... ORPHA:99901
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... ORPHA:444490
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Ddost-Cdg
Failure to thrive, Nephrotic range proteinuria, Elevated hepatic transaminase, Lipodystrophy, Pri... ORPHA:300536
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Increased blood urea nitrogen, Anemia, Hemoglobinuria, Leukopenia, Glycos... ORPHA:447
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Glycosuria, Stage 5 chronic kidney disease OMIM:268315
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:212138
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Hypospadias, Ca... OMIM:175700
Alstrom Syndrome
Hyperinsulinemia, Chronic active hepatitis, Hepatomegaly, Nephritis, Decreased response to growth... OMIM:203800
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Diastasis recti, Cholestatic liver disease, Flexion contracture, Ingu... ORPHA:440713
Myasthenia Gravis
Hyperthyroidism, Glycosuria, Hemolytic anemia, Primary adrenal insufficiency, Abnormality of the ... ORPHA:589
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Lipodystrophy, Insulin-resistant diabetes mell... OMIM:269880
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Methylmalonic aciduria, Hypertaurinemia, Elevated circulating aspartate aminot... OMIM:245400
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... ORPHA:79303
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... ORPHA:189439
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, P... ORPHA:101330
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Glob... ORPHA:47159
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:600649
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria, Diabetes mellitus OMIM:202900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Tiglic Acidemia
Acidosis OMIM:275190
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Fatty replacement of skeletal muscle, Elevated circulating creatine kinase conc... OMIM:255100
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Skeletal mus... ORPHA:79474
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Hypoglycemia, Organic aciduria, Decrease... OMIM:246450
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Hypercholes... OMIM:603813
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Methylmalonic aciduria, Hypoglycemia, Elevated hepatic transaminase, Dicarboxy... ORPHA:289504
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, 3-hydroxydicarboxylic aciduria, Acute hepatic fai... OMIM:613070
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... ORPHA:890
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Lower limb muscle weakness, Hyperglycemia OMIM:619737
Insulin-Resistance Syndrome Type A
Type II diabetes mellitus, Delayed puberty ORPHA:2297
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminas... ORPHA:156
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis, Severe short stature OMIM:204730
Scorpion Envenomation
Ketonuria, Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspar... ORPHA:466677
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hepatomegaly, Hepatic failu... ORPHA:2394
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Renal insufficiency, Hyperglycemia OMIM:615986
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle, Achalasia, Celiac disease OMIM:618969
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mellitus OMIM:609069
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... OMIM:619281
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... ORPHA:53693
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Bloom Syndrome
Elevated hemoglobin A1c, Leukemia, Type II diabetes mellitus OMIM:210900
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... ORPHA:508
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Hydroxykynureninuria
Jaundice, Aminoaciduria OMIM:236800
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Adrenomyodystrophy
Failure to thrive, Megacystis, Abnormality of the urinary system, Primary adrenal insufficiency, ... ORPHA:977
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Hyperlipoproteinemia, Type Id
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... OMIM:615947
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Decreased plasma carnitine, Ragged... ORPHA:254864
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase ORPHA:75563
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Proximal muscle ... ORPHA:905
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hepatomegaly, Increased urinary glycerol, Neonatal hypoglycemia, Hyp... ORPHA:348
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceri... OMIM:619127
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Camptodactyly, Renal hypopla... OMIM:604273
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Elevated hepatic tr... OMIM:617591
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis, Myopathy OMIM:300270
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Ragged-red muscle... OMIM:614924
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... OMIM:618108
Pyruvate Carboxylase Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Inc... ORPHA:3008
Pyruvate Carboxylase Deficiency
Hepatomegaly, Proximal renal tubular acidosis, Increased serum pyruvate, Hypoglycemia, Hyperalani... OMIM:266150
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Hyponatremia, Abnormal glucose homeostasis, Ascites, Hype... ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis OMIM:615453
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Stage 5 chronic k... OMIM:619487
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,... OMIM:600001
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Elevated hepatic transaminase, Hypo... ORPHA:71
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Dys... OMIM:608809
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Weight loss, Jaundice, Abnormal urine potassium concentration, Elev... ORPHA:275761
Harderoporphyria
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Hepatomegaly, Splenome... OMIM:618892
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis OMIM:618394
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased circulating androgen c... ORPHA:769
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Short stature, Metabolic acidosis, Proximal renal tubular acidosis, Decreased serum bicarbonate c... OMIM:604278
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion contracture, Art... OMIM:214150
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Rimmed vacuoles, Increased v... ORPHA:52430
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... OMIM:615486
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Hawkinsinuria
Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, Failure to thrive, ... ORPHA:2118
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, 3-Methy... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir... OMIM:614727
Galactose Mutarotase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergalactosemia, Cholestasis ORPHA:570422
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Cystinosis
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... ORPHA:213
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Weakness of facial musculature, Hand muscle atrophy, Foot dorsiflexor weakness... OMIM:618811
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, EMG: myopathic abnormalities, Abnormal circulating creatine... ORPHA:98907
Visceral Steatosis, Congenital
Hypocalcemia, Jaundice, Neonatal death, Hypoglycemia, Renal steatosis, Myocardial steatosis, Hepa... OMIM:228100
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Abnormal muscle fiber morphology, Hyp... ORPHA:79102
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Weight loss ORPHA:100024
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... OMIM:611126
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:267700
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi... ORPHA:230
Placental Insufficiency
Insulin resistance ORPHA:439167
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Jaundice, Aminoaciduria, Myopathy ORPHA:33574
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated hepatic transaminase, Elevated circulating thyro... ORPHA:94086
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic... OMIM:603278
Cog7-Cdg
Failure to thrive, Hepatomegaly, Small for gestational age, Abnormality of the kidney, Hepatosple... ORPHA:79333
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Hyperala... OMIM:619003
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... ORPHA:2924
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Aminoaciduria, EMG: myopathic abnormalities, Elevated circulating creatine kinas... OMIM:609560
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Phenylketonuria
Aminoaciduria ORPHA:716
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Methioninuria, Pancreatitis, Inguinal hernia, Homocystinuria, Hyperhomocystine... OMIM:236200
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia ORPHA:90065
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyperkalemia, Renal sa... OMIM:614736
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... ORPHA:159
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... ORPHA:79230
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... OMIM:124000
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Abnormality of the urinary system, Abnormal renal morphology, H... OMIM:182290
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... ORPHA:411696
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... ORPHA:3163
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotrop... ORPHA:298
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Hereditary Coproporphyria
Dark urine, Proximal muscle weakness in lower limbs, Increased urinary porphobilinogen, Hepatocel... ORPHA:79273
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Nephrogenic diabetes insipidus, Cholestatic liver disease, Giant cell hepatiti... OMIM:208085
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... OMIM:616860
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea OMIM:614602
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Diaphragmatic eventration, Elevated circul... ORPHA:66634
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperprolinemia, Hyperalaninemia ORPHA:79246
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Hypogonadism, Insulin resistance ORPHA:73272
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
3-Methylglutaconic Aciduria, Type V
Glutaric aciduria, Hypospadias, Microvesicular hepatic steatosis, 3-Methylglutaric aciduria OMIM:610198
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulat... OMIM:239200
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... ORPHA:234
Infantile Liver Failure Syndrome 2
Hypoglycemia, Elevated hepatic transaminase, Jaundice, Acute hepatic failure OMIM:616483
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Flexion contracture, Facial palsy, Ethylmalonic aciduria, Myopathy OMIM:201470
Bile Acid Synthesis Defect, Congenital, 1