Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MLX interacting protein-like
Synonyms:
bHLHd14,  ChREBP,  Wbscr14,  WS-bHLH

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 Mlxipl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mlxipl by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Williams Syndrome
Cholelithiasis, Hypercalcemia, Failure to thrive in infancy, Constipation, Abnormal circulating l... ORPHA:904

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Abdominal pain, Lactose intolerance, Flatulence,... OMIM:223100
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipo... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Loss of gluteal subcutaneous adipose tissue... OMIM:604367
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hy... OMIM:246700
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Hypoglycemia, Hyperinsulinemia, Failure to thrive, Abnormal inte... OMIM:606528
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Increased LDL cholesterol concentrat... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Lipoatrophy, Diabetes mell... ORPHA:79084
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomeg... OMIM:232700
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Failure to thrive, Villous atrophy, Protein-losing enteropa... OMIM:615863
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Abnormal intestine morphology, Dysphagia, ... ORPHA:70482
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Weight loss, Gastrointestinal hemorrhage, Gastroesophageal reflux... ORPHA:2198
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Diabetes mellitus, Ty... ORPHA:181393
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Increas... ORPHA:324575
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, E... ORPHA:90003
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Fever, Splenomegaly, Weight loss ORPHA:52416
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Elevated... OMIM:615381
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal enz... ORPHA:171706
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Trehalase Deficiency
Abdominal pain, Abdominal distention, Malabsorption, Diarrhea, Vomiting ORPHA:103909
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Dysphagia, Weight loss, Decreased prealbumin level ORPHA:930
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Hepatomegaly, Failure to thrive, Abnormal intestine morphology, Diarrhea OMIM:618495
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Central adrenal in... ORPHA:71526
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia OMIM:615026
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Insul... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Type I diabetes mellitus, Increased C-peptide level,... ORPHA:276575
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Esophageal varix, Na... ORPHA:75234
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Abnormality of body weight, Abdominal pain, Vomiting ORPHA:314811
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Chylomicron Retention Disease
Fat malabsorption, Hepatic steatosis, Increased hepatocellular lipid droplets, Vomiting, Abdomina... ORPHA:71
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Cholestasis, Constipation, Vomiting, Abnormal blood io... ORPHA:95427
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Increased fecal bile acid, Steatorrhea OMIM:613291
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, ... OMIM:613662
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Constipation, Macroglossia, Prolonged neonatal jaundice, Neonata... ORPHA:95717
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia, Malabsorption, Villous atro... OMIM:600955
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepa... ORPHA:79237
Immunodeficiency 19
Failure to thrive, Diarrhea OMIM:615617
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Villous atrophy, Protein-losing enteropathy, Ci... OMIM:602579
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Constipation, Aganglionic megacolon, Nausea and vomiti... ORPHA:388
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Maternal diabetes, Splenomegaly, Lipoatrophy, Hepatomegaly... ORPHA:79083
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Bloody mucoid diarrh... ORPHA:209964
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:245400
Hereditary Central Diabetes Insipidus
Fever, Polydipsia, Diarrhea, Weight loss, Vomiting ORPHA:30925
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Vomiting, Hypocalcemia, Obesity, Feeding difficulties... ORPHA:26793
Rabies
Fever, Nausea and vomiting, Anorexia, Diarrhea ORPHA:770
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea OMIM:269840
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Elevated circulating C-reactive protein concentration OMIM:619398
Enteric Anendocrinosis
Portal hypertension, Type I diabetes mellitus, Malabsorption, Cholestatic liver disease, Diarrhea... ORPHA:83620
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Permanent Congenital Hypothyroidism
Constipation, Feeding difficulties, Jaundice, Macroglossia, Abdominal distention, Hypothermia ORPHA:226292
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Increased C-peptide level, Decreased circulating free fatty acid level, Ex... ORPHA:276556
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Diarrhea, Vomiting OMIM:605911
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Weight loss, Vomiting, Elevated circulat... ORPHA:2070
Ménétrier Disease
Nausea, Hypoproteinemia, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, ... ORPHA:2494
Congenital Short Bowel Syndrome
Abnormal peristalsis, Decreased intestinal transit time, Intestinal malrotation, Chronic diarrhea... OMIM:615237
Diarrhea 6
Abdominal pain, Diarrhea OMIM:614616
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati... ORPHA:95716
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Diarrhea OMIM:261750
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Hyperactive bowel sounds, Abdominal distention, Failure to thrive, ... OMIM:606824
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age, Villous atrophy OMIM:613217
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decrease... ORPHA:159
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Abdominal pain, Diarrhea OMIM:222900
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Failure... ORPHA:79319
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Ma... ORPHA:226313
Angioedema, Hereditary, 8
Abdominal pain, Episodic vomiting, Diarrhea OMIM:619367
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, De... ORPHA:435651
Cap Polyposis
Colorectal polyposis, Hematochezia, Weight loss, Constipation, Abdominal pain, Abdominal distenti... ORPHA:160148
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Lactose intolerance, Diarrhea OMIM:223000
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Abdominal distention, Abnormal circulating protein concentration, Prot... ORPHA:103910
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Hypothermia ORPHA:29822
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Abnormali... ORPHA:26790
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increased C-peptide level, Decreas... ORPHA:79644
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Umbilical hernia, Ma... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... OMIM:615710
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Abnormal intestine morphology, Malnutrition, Villous atrophy OMIM:251850
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Central Diabetes Insipidus
Hyponatremia, Weight loss, Anorexia, Fever, Nausea and vomiting, Failure to thrive, Polydipsia, D... ORPHA:178029
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Increased fecal coproporphyri... OMIM:121300
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Diarrhea, Decreased HDL cholesterol concentration, Periportal fib... OMIM:278000
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Abnormality of the gastrointestinal tract, Cirrhosis, Macro... ORPHA:298
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Chronic diarrhea, Jaundice, Nausea and vomiting, Abdominal pain, Elevat... ORPHA:65682
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Nausea and vomiting, Abdominal pain, Malabsorption, Abnormality of te... ORPHA:42642
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Increased C-peptide level, Decre... ORPHA:71212
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Pulmonary Blastoma
Weight loss, Fever ORPHA:64741
Congenital Tufting Enteropathy
Weight loss, Vomiting, Abnormal small intestinal mucosa morphology, Chronic diarrhea, Anal atresi... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Reticular Dysgenesis
Fever, Failure to thrive, Malabsorption, Diarrhea, Weight loss ORPHA:33355
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cholestasis, Abnormal intestine morphology, Cirrhosis, Hepatic fibrosis, Diarrhea OMIM:609313
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Pancolitis, Chronic diarrhea, Abdominal pain, Ileitis, Abnormal intestine morpho... OMIM:619079
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Anorexia, Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cirrhosis, Peritonitis, Cholecystitis, Splenome... ORPHA:131
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Weight loss, Gastrostomy tube feeding in infancy, Feeding di... ORPHA:141152
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Feeding difficulties, Hepatomegaly, Jaundice, Elev... ORPHA:79333
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia, Fever, Abnormality of the peritoneum ORPHA:2023
Potocki-Lupski Syndrome
Feeding difficulties in infancy, High palate, Small for gestational age, Gastroesophageal reflux,... OMIM:610883
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Inguinal hernia ORPHA:2849
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulat... ORPHA:20
Immunodeficiency 31C
Abnormal intestine morphology, Diabetes mellitus, Diarrhea, Villous atrophy OMIM:614162
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Intermittent diarrhea, Hepatosplenomegaly, Weight loss, Colon ... ORPHA:1333
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Anorexia, Abnormal intestine morphology, Hypoalbuminemia, Secretory diarrhea, Di... OMIM:600351
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:235555
Secondary Intestinal Lymphangiectasia
Cirrhosis, Increased stool alpha1-antitrypsin concentration, Decreased prealbumin level, Intussus... ORPHA:90363
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Fat malabsorption, Decreased body weight, Type I diabetes mellitus, Elevate... ORPHA:96180
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Increased hepatic glycogen content, Hepatomegaly, ... ORPHA:369
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Elevated gamma-glutamyltransferase level, Bile duct proliferation, Decreased liver ... OMIM:618329
Immunodeficiency 104
Hepatomegaly, Failure to thrive secondary to recurrent infections, Splenomegaly, Diarrhea OMIM:608971
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic choles... OMIM:601847
Wolman Disease
Hepatic failure, Splenomegaly, Fever, Hepatomegaly, Esophageal varix, Nausea and vomiting, Abdomi... ORPHA:75233
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Increased circulating ferritin concentration, Splenomegaly, Feve... OMIM:616050
Mody
Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Hype... ORPHA:552
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Elevated ... OMIM:617156
Trichohepatoenteric Syndrome 2
Small for gestational age, Decreased serum iron, Colitis, Hepatomegaly, Failure to thrive, Hepati... OMIM:614602
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Hypercholesterolemia, Reduced radio... ORPHA:90674
Tuberculosis
Weight loss, Fever ORPHA:3389
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Slender build, Constipation, Gastrointestinal dysm... OMIM:603041
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, E... OMIM:232400
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Hyperinsulinemia ORPHA:791
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
Diabetes Mellitus, Permanent Neonatal, 2
Reduced C-peptide level, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Donohue Syndrome
Fasting hypoglycemia, Cholestasis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Elevated hepatic transaminase, Postprandial hyp... ORPHA:2089
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Microvillar PAS-positive secretory granules, Abdominal distention, Depend... OMIM:619445
Immunodeficiency 69
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Fever, Failure to... OMIM:618963
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Impaired sensitivit... ORPHA:90673
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Intermittent diarrhea, Hypoglycemia, Methylmalonic acidemia, Failure to th... ORPHA:289504
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Hepatic steatosis, Hepatic fibrosis, Hypoglycemia, Cholestasis, Hypercholesterolemia, Fas... ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Eleva... OMIM:255120
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Anorexia, Splenomegaly, Hepatomegaly, Hamartomatous pol... ORPHA:2930
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Reye syndrome-like episodes, Hepatomegaly, Acute ... OMIM:256810
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Decrea... ORPHA:226316
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Anorexia, Hamartomatous poly... OMIM:175500
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hepatic fibrosis, Cholestasis, Hypercholesterolemia, Spl... ORPHA:370
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hepatomegaly, Hypergonad... OMIM:203800
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Diarrhea OMIM:613501
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Weight loss, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, F... ORPHA:67
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia ORPHA:168593
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Poor suck, Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fu... OMIM:615160
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Splenomegaly,... OMIM:211600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Hyperphosphatemia, Elevated hepatic transaminase, Increase... ORPHA:94086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Nausea, Fasting hypoglycemia, Hepatic fibrosis, Hypercholesterolemia, Recur... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Decreased liver function, Hepatomegaly, Abdominal distention, Failure to thrive, Pro... OMIM:608104
Congenital Hypothyroidism
Feeding difficulties in infancy, Constipation, Tracheoesophageal fistula, Macroglossia, Abdominal... ORPHA:442
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hepatic fibrosis, Hypercholesterolemia, Eleva... ORPHA:247585
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Constipation, Recurrent hypoglycemia, Hypophosphatemic rickets, Neopla... ORPHA:2126
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Caroli Disease
Nausea, Biliary cirrhosis, Cholestasis, Cholangitis, Intrahepatic cholestasis, Liver abscess, Cho... ORPHA:53035
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Failur... OMIM:174900
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Insulin resistance, Elevated circulating growth hormone concentration, Insulin-r... ORPHA:90301
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Hepatomegaly, Fever, Splenomegaly, Weight loss ORPHA:86893
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Fever, Hyperactive bowel sounds, Abdominal distention, Failure to thr... ORPHA:35710
Chronic Hiccup
Abnormal eating behavior, Weight loss, Malnutrition ORPHA:396
Refractory Celiac Disease
Hypoproteinemia, Hypomagnesemia, Hypocalcemia, Chronic diarrhea, Abnormal spleen physiology, Abdo... ORPHA:398063
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hypoglycemia, Decreased plasma total carnitine, Decreased liver function, Hepa... ORPHA:42
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hyponatremia, Type I diabetes mellitus, Hypercalcemia, Weight loss, Constipation, D... ORPHA:199299
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Galactose Epimerase Deficiency
Feeding difficulties, Hepatomegaly, Jaundice, Splenomegaly, Nausea and vomiting, Weight loss ORPHA:79238
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the liver, Weight loss, Fever, Abnormal... ORPHA:33276
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Hepatomegaly, Failure to thrive, Vomiting OMIM:617872
Somatostatinoma
Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Intermittent jaundice, Diabe... ORPHA:97283
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Anorexia, Fever, Projectile vomiting, Hypo... ORPHA:33475
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hypothyroidism, Flexion contracture, Hepatomegaly, Hypergonadotropic hypogonad... OMIM:212065
Primary Erythromelalgia
Hypothermia ORPHA:90026
Ppoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Interm... ORPHA:97278
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Brunner Syndrome
Diarrhea OMIM:300615
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Fever, Hepatitis, Hypoalbuminemia, Fetal ascites, Hyperammonemia, H... ORPHA:292
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Anorexia, Hepatome... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Anorexia, Hepatome... ORPHA:100082
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Calcinosis, Delayed puberty ORPHA:90154
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormality of the pancreas, Elevated circulating C-reactive protein concentration, ... ORPHA:54251
Vascular Hyalinosis
Malabsorption, Hematochezia, Diarrhea, Protein-losing enteropathy OMIM:277175
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Abdominal distention, Hepatic necrosis, Hyperbilirubinemia, Liver absc... ORPHA:88673
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hepatic failure, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase ORPHA:156
Necrotizing Enterocolitis
Bloody diarrhea, Hyponatremia, Small for gestational age, Peritonitis, Abdominal distention, Abno... ORPHA:391673
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Orthostatic Hypotension 1
High palate, Neonatal hypoglycemia, Intermittent hypothermia OMIM:223360
Visceral Myopathy 1
Megaduodenum, Constipation, Aganglionic megacolon, Microcolon, Abdominal pain, Abdominal distenti... OMIM:155310
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:226307
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Anorexia, Fever, Hepatomegaly, Hyperuricemia, Oral aversion, Hyperglyc... ORPHA:134
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Elevated tissue non-specific alkaline phosphatase, Hy... ORPHA:785
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Insulin resistance, Anorexia, Fever, Splenomegaly, Hep... ORPHA:3452
Maculopapular Cutaneous Mastocytosis
Nausea, Fever, Abdominal pain, Diarrhea, Vomiting ORPHA:79457
Galactosemia I
Hypergalactosemia, Increased level of galactonate in red blood cells, Decreased liver function, H... OMIM:230400
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Constipation, Abdominal pain, Chronic constipation, Diarrhea, Vomiting OMIM:248360
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Fasting hypoglycemia, Increased C-peptide level, Insulin resi... ORPHA:769
Hodgkin Lymphoma
Anorexia, Hepatomegaly, Fever, Splenomegaly, Weight loss ORPHA:98293
Dracunculiasis
Nausea and vomiting, Low-grade fever, Diarrhea ORPHA:231
Rhabdoid Tumor
Weight loss, Hypercalcemia, Fever, Neoplasm of the liver, Abdominal pain, Nausea and vomiting, Po... ORPHA:69077
Isolated Agammaglobulinemia
Fever, Failure to thrive, Diarrhea, Malabsorption ORPHA:229717
Immunodeficiency 27A
Hepatosplenomegaly, Weight loss, Anorexia, Fever, Splenomegaly, Hypoalbuminemia, Diarrhea OMIM:209950
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Diarrhea, Vomiting OMIM:616069
Alexander Disease
High palate, Constipation, Nausea and vomiting, Failure to thrive, Dysphagia, Diabetes mellitus, ... ORPHA:58
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Feeding difficulties, Chronic diarrhea, Splenomegaly, Hepatomegaly, Recurrent in... OMIM:613489
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Constipation, Obesity, Fever, Abnormality of temperature regulation, Hypothermia OMIM:618493
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Hypoglycemia, Cholestasis, Failure to thrive in ... ORPHA:810
Methanol Poisoning
Hyperlipidemia, Abdominal pain, Type II diabetes mellitus, Diarrhea, Type I diabetes mellitus, Vo... ORPHA:31825
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Hyponatremia, Hyperkalemia, Failure to thrive, Hyperaldosteronis... OMIM:264350
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Feeding difficulties, Failure to t... OMIM:177735
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Hepatomegaly OMIM:246900
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Weight loss, Protracted diarrhea, Anorexia, Hepatomegaly, Abdominal pain, Melena... ORPHA:100080
Hyperphosphatemia, Polyuria, And Seizures
Fever, Hyperphosphatemia, Diarrhea, Vomiting OMIM:239350
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Gastrointestinal dysmotility, Polydipsia, Obesity, Feeding difficul... ORPHA:293987
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Neuroleptic Malignant Syndrome
Nausea, Hyponatremia, Hyperkalemia, Hypocalcemia, Fever, Hyperuricemia, Elevated circulating crea... ORPHA:94093
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Feeding difficulties in infancy, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619048
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal pain, Abdominal distention, Weight loss ORPHA:168811
Abetalipoproteinemia
Fat malabsorption, Hepatic steatosis, Decreased LDL cholesterol concentration, Vomiting, Hypotrig... ORPHA:14
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Nausea, Hyperalaninemia, Feeding difficulties, Reye syndrome-like episodes, Hepatomegaly, Hypergl... ORPHA:927
Lysosomal Acid Lipase Deficiency
Hepatic failure, Fatal liver failure in infancy, Abdominal distention, Hypersplenism, Diarrhea, D... ORPHA:275761
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Colitis, Inflammation of the large intestine, Failure to thrive, Dysphagia, Chronic gastritis, Di... OMIM:608809
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Fever, Hepatomegaly, Failure to thrive, Low plasma citrulline, Episodic vomiting... ORPHA:255210
Folate Malabsorption, Hereditary
Malabsorption, Feeding difficulties in infancy, Failure to thrive, Diarrhea OMIM:229050
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Glucagonoma
Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Intermittent jaundice, Diabe... ORPHA:97280
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia, Diarrhea OMIM:226200
Ebola Hemorrhagic Fever
Nausea, Acute pancreatitis, Gastrointestinal hemorrhage, Fever, Abdominal pain, Hepatitis, Dyspha... ORPHA:319218
Propionic Acidemia
Constipation, Hypoglycemia, Hepatomegaly, Hyperammonemia ORPHA:35
Marburg Hemorrhagic Fever
Bloody diarrhea, Nausea, Abnormality of the gastrointestinal tract, Hypokalemia, Elevated circula... ORPHA:99826
Autosomal Agammaglobulinemia
High palate, Fever, Failure to thrive, Hepatitis, Malabsorption, Diarrhea ORPHA:33110
Typhoid
Gastrointestinal hemorrhage, Constipation, Splenomegaly, Fever, Hepatomegaly, Abdominal pain, Dia... ORPHA:99745
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating cre... OMIM:600649
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Cholestasis, Failure to thrive in infancy, Hyperbilirubinemia, Diarr... ORPHA:247598
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Abdominal pain, Abnormal intestine morphology, Malabsorption, Hypo... OMIM:226300
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Immunodeficiency 57 With Autoinflammation
Gastritis, Inflammation of the large intestine, Failure to thrive, Perianal abscess, Diarrhea OMIM:618108
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypoglycemia, Feeding difficulties, Methylmalonic acidemia, Jaundice, Hypome... ORPHA:79282
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Elevated circul... OMIM:619481
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Aganglionic megacolon, Fever, Splenomegaly, Hepat... ORPHA:3386
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
X-Linked Agammaglobulinemia
Hypocalcemia, Fever, Chronic diarrhea, Failure to thrive, Hepatitis, Glossoptosis, Malabsorption,... ORPHA:47
Grfoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Interm... ORPHA:97261
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Malabsorption, Cachexia, Duodenal ulcer, Steatorrhea ORPHA:3217
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Feeding difficulties in infancy, Small for gestational age, Elevated circulating ... OMIM:618775
Cog4-Cdg
Intermittent diarrhea, Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia, Fa... ORPHA:263501
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abdominal distention, Abnormal gastric ... ORPHA:1876
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Abnormality of the gastrointestinal tract, Hepatosplenomegaly, Ga... ORPHA:85450
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Intellectual Developmental Disorder, Autosomal Dominant 57
Constipation, High palate, Feeding difficulties, Diarrhea OMIM:618050
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Constipation, Hyperkalemi... ORPHA:361
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Vomiting, Gastroesophageal reflux, Feeding difficulties, Hepatom... ORPHA:17
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hepatic failure, Hypoglycemia, Hyperisoleucinemia, De... ORPHA:2394
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Nausea and vomiting, Abdominal distention, Abdominal pain, Abnormality of th... ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Dysphagia OMIM:618958
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Vipoma
Hypokalemia, Weight loss, Hypercalcemia, Anorexia, Neoplasm of the liver, Abnormal gastrointestin... ORPHA:97282
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Hyperinsulinemia, Increas... ORPHA:508
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Weight loss, Cachexia OMIM:612075
Immunodeficiency 76
Colitis, Splenomegaly, Chronic diarrhea OMIM:619164
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Porphyria Due To Ala Dehydratase Deficiency
Nausea, Increased erythrocyte protoporphyrin concentration, Hyponatremia, Constipation, Abdominal... ORPHA:100924
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nausea, Elevated circulating creatine kinase concentration, Dysphagia, Poor appetite, Diarrhea ORPHA:352447
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Porphyria
Constipation, Anorexia, Fever, Abdominal pain, Nausea and vomiting, Abnormal circulating porphyri... ORPHA:738
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cardiomegaly, Hypothyroidism, Portal hypertension, ... ORPHA:465508
Anal Sphincter Dysplasia
Constipation, Encopresis, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance, Hypogonadism ORPHA:73272
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Intermittent hypothermia, Gastroesophageal reflux,... OMIM:608643
Fatal Familial Insomnia
Constipation, Fever, Weight loss, Dysphagia OMIM:600072
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating creatinine concentration, Nonketotic hypoglycemia, Diarrhea, H... OMIM:608836
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Weight loss, Recurrent fever OMIM:617321
Attrv30M Amyloidosis
Constipation, Weight loss, Diarrhea ORPHA:85447
Neuroendocrine Tumor Of Stomach
Bloody diarrhea, Intermittent diarrhea, Hepatic failure, Weight loss, Protracted diarrhea, Zollin... ORPHA:100075
Oculopharyngodistal Myopathy
High palate, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, High, narrow pal... ORPHA:98897
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Zollinger-Ellison Syndrome
Hematochezia, Nausea, Weight loss, Gastrointestinal hemorrhage, Hypercalcemia, Zollinger-Ellison ... ORPHA:913
Galactosemia
Hypergalactosemia, Hepatic failure, Feeding difficulties, Hepatomegaly, Jaundice, Increased level... ORPHA:352
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Failure to thrive, Villous atrophy, Diarrhea, Vomiting OMIM:601110
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Fever, Jaundice, Extrahepatic cholestasis, Abdominal pain, Weig... ORPHA:99978
Menkes Disease
Feeding difficulties in infancy, Hypoglycemia, Gastrointestinal hemorrhage, Nausea and vomiting, ... ORPHA:565
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Hepatomegaly, Recurrent aphthous stomatitis, Abdominal ... ORPHA:343
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Weight loss, Hypocalcemia, Recurrent aphthous stomatitis, Abdominal pai... OMIM:212750
Aggressive Systemic Mastocytosis
Portal hypertension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Weight loss, Anorexia, Decr... ORPHA:98850
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Diarrhea ORPHA:858
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Abnormal enzyme/coenzyme activity, Abnormal adipose tissue ... ORPHA:79324
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Constipation, Diarrhea OMIM:615548
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Fever, Hepatomegaly, Abdominal pain, Nausea and vom... ORPHA:99828
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Hypogonadotropic hypogonadism, Spleno... OMIM:235200
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperalaninemia, Re... ORPHA:348
Glycerol Kinase Deficiency
Small for gestational age, Hypoglycemia, Episodic vomiting, Hypertriglyceridemia OMIM:307030
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Nausea, Weight loss, Jaundice, Pancreatic calci... ORPHA:103918
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Fever, Hepatomegaly, Abdominal pain, Malnu... ORPHA:79456
Hereditary Fructose Intolerance
Nausea, Constipation, Hepatomegaly, Jaundice, Hyperuricemia, Reactive hypoglycemia, Abdominal pai... ORPHA:469
Thrombotic Thrombocytopenic Purpura
Fever, Abdominal pain, Diarrhea, Decreased serum creatinine ORPHA:54057
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Hypoglycemia, Cholestasis, Hepatoc... OMIM:231100
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Enlarged polycystic ovaries, Type II diabe... ORPHA:91
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Peritoneal Cystic Mesothelioma
Constipation, Peritonitis, Abdominal pain, Abdominal distention, Weight loss ORPHA:168816
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Diarrhea, Failure to thrive secondary to recurrent infections OMIM:601457
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Abnorm... ORPHA:70475
Addison Disease
Hypoglycemia, Hyponatremia, Type I diabetes mellitus, Hypercalcemia, Increased circulating renin ... ORPHA:85138
Aa Amyloidosis
Nausea, Cholestasis, Chronic diarrhea, Hepatomegaly, Abdominal pain, Malnutrition, Malabsorption,... ORPHA:85445
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Intestinal carcinoid, Constipation, Protracted diarrhea, Abnormal bowel sounds, An... ORPHA:100079
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Failure to thrive, Diabetes mellitus, Diarrhea, Type I diabetes mellitus, Vomiting OMIM:560000
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Gastrointestinal dysmotility, Decreased liver f... ORPHA:90051
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, H... OMIM:605814
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance, Hyperlipidemia ORPHA:90153
Rapadilino Syndrome
High palate, Diarrhea, High, narrow palate, Cleft palate OMIM:266280
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Acquired Hypertrichosis Lanuginosa
Weight loss, Chronic diarrhea, Macroglossia, Poor appetite, Glossitis ORPHA:2221
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Portal hypertension, Cholestasis, Inguinal hernia, Hepatitis, Arthrogryposis... ORPHA:440713
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Protracted diarrhea, Anorexia, Fever, Hepatitis, Failure to thrive secondary ... ORPHA:169160
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Weight loss, Hypercalcemia, Increased circulating renin level, Consti... ORPHA:95409
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Abnormal circulating creatine concentration, Constipation, Neoplasm ... ORPHA:440437
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea OMIM:615592
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Hepatomegaly, Hepatic amyloidosis, Abdominal pain,... OMIM:142680
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Bloody diarrhea, Duodenitis, Villous atrophy OMIM:614328
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:767
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Colitis, Protracted diarrhea, Failure to thrive, Malabsorption, Vil... OMIM:209920
Ethylene Glycol Poisoning
Nausea, Vomiting, Hypocalcemia, Hyperkalemia, Gastritis, Hypothermia ORPHA:31826
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Fever, Chronic diarrhea, Ulcerative colitis OMIM:618394
Kaufman Oculocerebrofacial Syndrome
Feeding difficulties in infancy, High palate, Constipation, Intestinal malrotation, Failure to th... OMIM:244450
Huntington Disease
Choking episodes, Oral-pharyngeal dysphagia, Decreased body mass index, Polyphagia, Abnormal circ... ORPHA:399
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Weight loss, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, ... ORPHA:100085
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Chronic diarrhea, Hypoalbumi... ORPHA:79327
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Fever, Weight loss ORPHA:100024
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Zollinger-Ellison syndrome, Insulinoma, Esophagitis, Pancreatic isle... OMIM:131100
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Dysphagia, Hyperammonemia OMIM:618253
Classic Galactosemia
Hepatic failure, Hypoglycemia, Feeding difficulties, Hepatomegaly, Jaundice, Elevated hepatic tra... ORPHA:79239
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Hypokalemia, Colonic stenosis, Elevated circulating crea... ORPHA:90038
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Recurrent pancreatitis, Insulin resistance, Hypercholesterolemia, Decreased adipos... OMIM:606721
Adult-Onset Autosomal Dominant Leukodystrophy
Constipation, Malnutrition, Dysphagia, Temperature instability, Hypothermia ORPHA:99027
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Elevated... ORPHA:567983
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea, Diabetes mellitus ORPHA:49827
Nephroblastoma
Weight loss, Abdominal pain, Neoplasm of the liver, Fever ORPHA:654
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Ch... ORPHA:79303
Polymyositis
Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Anorexia, Fever, Hepatomegaly... ORPHA:732
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, H... ORPHA:90362
Satoyoshi Syndrome
Malabsorption, Mildly elevated creatine kinase, Diarrhea OMIM:600705
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Pigmented micronodular adrenocortical disease, Increased urina... ORPHA:189439
Ileal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Weight loss, Abnormal bowel sounds, Zollinger-Ell... ORPHA:100078
Jejunal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Weight loss, Abnormal bowel sounds, Zollinger-Ell... ORPHA:100077
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Achlorhydria, Vomiting... ORPHA:173
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Feeding difficulties in infancy, Hyponatremia, Failure to thrive in infancy, Incr... ORPHA:171876
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Corneal scarrin... ORPHA:101330
Pancreatoblastoma
Weight loss, Jaundice, Abdominal pain, Abdominal distention, Pancreatic calcification, Elevated m... ORPHA:677
Chromosome 19P13.13 Deletion Syndrome
Constipation, Feeding difficulties, Abdominal pain, Diarrhea, Vomiting OMIM:613638
Botulism
Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diarrhea ORPHA:1267
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Chronic diarrhea, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, F... OMIM:619484
Short Syndrome
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal hernia, Glucose intoler... OMIM:269880
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, Cholelithi... ORPHA:171
Lassa Fever
Fever, Jaundice, Abdominal pain, Nausea and vomiting, Dysphagia, Diarrhea ORPHA:99824
Hyperprolinemia Type 2
Hyperalaninemia, Hyperprolinemia, Feeding difficulties, Abdominal pain, Dysphagia, Hyperglycinemi... ORPHA:79101
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Nausea and vomiting, Failure to thrive, Diarrhea, Weight loss ORPHA:1842
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Bifid uvula, Elevated circulating alanine aminotransferase concentration, Mali... OMIM:614921
Alg8-Cdg
Abnormality of the gastrointestinal tract, Hyponatremia, Small for gestational age, Feeding diffi... ORPHA:79325
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Intestinal malrotation, Rectal atresia, Interface... OMIM:243150
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly, Hepatomegaly, D... OMIM:616100
Porphyria, Acute Intermittent
Nausea, Constipation, Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Diarrhea, Vomiting OMIM:176000
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Fever, Abdominal pain, Intestinal obstruct... ORPHA:449400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Foodborne Botulism
Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diarrhea ORPHA:228371
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss, Fever ORPHA:48918
Myopathy, Myofibrillar, 1
Constipation, Diarrhea OMIM:601419
Dominant Beta-Thalassemia
Hepatosplenomegaly, Failure to thrive in infancy, Chronic hepatitis, Feeding difficulties, Spleno... ORPHA:231226
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Hypercholesterolemia, Pro... ORPHA:79259
Classic Hodgkin Lymphoma
Weight loss, Anorexia, Fever, Hepatomegaly, Splenomegaly, Poor appetite ORPHA:391
Lynch Syndrome
Gastrointestinal hemorrhage, Colon cancer, Constipation, Neoplasm of the rectum, Abdominal pain, ... ORPHA:144
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Hepatomegaly, Chronic diarrhea, Bowel incont... ORPHA:330001
Immunodeficiency 56
Hepatic failure, Cholangitis, Chronic diarrhea, Chronic hepatitis due to cryptosporidium infectio... OMIM:615207
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Immunodeficiency 55
Diarrhea OMIM:617827
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Constipation, Macroglossia, Abdominal distention, Hyperbilirubin... OMIM:218700
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Follicular Lymphoma
Weight loss, Splenomegaly, Fever, Abnormality of the peritoneum ORPHA:545
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration,... OMIM:619644
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Hypoglycemia, Chronic diarrhea OMIM:616355
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Chronic diarrhea, Failure to thrive, Hepatitis, Villous atrophy, Type I diabetes mellitus OMIM:304790
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Abdominal distention, Failure to thrive, Hyperaldostero... OMIM:214700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Elevated circulating C-reactive protein concentration, Fever, Inflammation of the la... ORPHA:324964
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:616483
Gallbladder Neuroendocrine Tumor
Nausea, Weight loss, Biliary tract obstruction, Cholecystitis, Anorexia, Biliary tract neoplasm, ... ORPHA:100086
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Weight loss, Diarrhea ORPHA:411703
Glycogen Storage Disease Ia
Intermittent diarrhea, Hyperlipidemia, Hypoglycemia, Protuberant abdomen, Hepatomegaly, Hyperuric... OMIM:232200
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Cachexia ORPHA:85278
Leishmaniasis
Anorexia, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Weight loss... ORPHA:507
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Fever, Hypertriglyceridemia, Di... OMIM:619313
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Di... OMIM:616541
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Type I diabetes mellitus, Small for gestation... OMIM:557000
Occipital Horn Syndrome
Poor suck, Hiatus hernia, Cholestasis, Gastroesophageal reflux, High, narrow palate, Jaundice, He... ORPHA:198
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Panniculitis, Elevated hepatic tr... OMIM:617591
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Failure to thrive, Malabsorption, Protruding tongue, Diarrhea