Gene: Myo5b MGI:106598

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myosin VB

Synonyms:

N/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 Myo5b 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.

Human diseases associated with Myo5b (3 diseases)
Human diseases predicted to be associated with Myo5b (894 diseases)

The table below shows human diseases associated to Myo5b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morphology	OMIM:251850
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Failure to thrive, Acholic stools	OMIM:619868

The table below shows human diseases predicted to be associated to Myo5b by phenotypic similarity.

Disease	Matching phenotypes	Source
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morphology	OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa...	OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome	Vomiting, Diarrhea, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphol...	OMIM:606528
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy	OMIM:615863
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Diarrhea, Death in infancy, Early cutaneous photosensitivity, Colitis	OMIM:219095
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Short Stature Due To Ghsr Deficiency	Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight, Abdominal pain	ORPHA:314811
Proprotein Convertase 1/3 Deficiency	Diarrhea, Obesity, Villous atrophy, Malabsorption, Reactive hypoglycemia, Hypoinsulinemia	OMIM:600955
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy...	ORPHA:293964
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perioral erythema, Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis, Perianal eryt...	OMIM:614328
Chylomicron Retention Disease	Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe...	OMIM:246700
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Villous atrophy, Abnormal small in...	ORPHA:95427
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec...	ORPHA:209964
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil...	ORPHA:92050
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,...	OMIM:620045
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Villous atrop...	OMIM:602579
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Neonatal hypoglycemia, Premature skin wrinkling, Abdominal obesity	ORPHA:631
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int...	ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
Angioedema, Hereditary, 8	Episodic vomiting, Abdominal pain, Diarrhea, Angioedema	OMIM:619367
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo...	ORPHA:160148
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Hypoglycemia, Premature skin wrinkling	OMIM:617950
Trichohepatoenteric Syndrome 2	Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Colitis, Chronic diarrhea, Small f...	OMIM:614602
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Premature graying of hair, Malabsorption	OMIM:277175
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Autoinflammation With Infantile Enterocolitis	Secretory diarrhea, Failure to thrive, Villous atrophy, Feeding difficulties in infancy, Enteroco...	OMIM:616050
Diarrhea 13	Vomiting, Secretory diarrhea, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy...	ORPHA:324575
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Coproporphyria, Hereditary	Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:copropor...	OMIM:121300
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Gastrojejunal tube feeding in infancy, Hypoglycemia, Feeding difficulties in infancy, Small for g...	ORPHA:231147
Dermatoleukodystrophy	Progeroid facial appearance, Premature skin wrinkling	OMIM:221790
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Alg8-Cdg	Diarrhea, Vomiting, Failure to thrive, Abnormality of subcutaneous fat tissue, Premature skin wri...	ORPHA:79325
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Brunner Syndrome	Diarrhea, Flushing	OMIM:300615
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Decreased body weight, Feeding difficulties in infancy, High palate, Neonatal hypog...	ORPHA:231140
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention	ORPHA:103910
Small Bowel Atresia	Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo...	ORPHA:1201
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Hypoglycemia	OMIM:262400
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Feeding difficulties in infancy, Failure to thrive, Hypoglycemia	OMIM:610090
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Cog7-Cdg	Diarrhea, Failure to thrive, Excessive wrinkled skin, Jaundice, Small for gestational age, Feedin...	ORPHA:79333
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Maculopapular Cutaneous Mastocytosis	Erythema, Diarrhea, Dermatographic urticaria, Vomiting, Generalized abnormality of skin, Nausea, ...	ORPHA:79457
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Ornithine Transcarbamylase Deficiency	Hepatic failure, Hypoglycemia, Pyloric stenosis	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 2	Diarrhea, Failure to thrive, Death in childhood, Intermittent jaundice, Fat malabsorption, Hepato...	OMIM:601847
Immunodeficiency 85 And Autoimmunity	Vomiting, Failure to thrive in infancy, Villous atrophy, Tube feeding, Chronic diarrhea	OMIM:619510
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate	OMIM:601110
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorption, Weight loss,...	ORPHA:398063
Microphthalmia, Syndromic 8	Cleft palate, Premature skin wrinkling	OMIM:601349
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections	OMIM:608971
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Osteootohepatoenteric Syndrome	Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight...	OMIM:619377
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ...	ORPHA:276580
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abnormality of the g...	ORPHA:2070
Netherton Syndrome	Failure to thrive, Angioedema, Recurrent infection of the gastrointestinal tract, Villous atrophy...	OMIM:256500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Pallor, Reactive hypoglycemia, Increased body weight,...	ORPHA:276608
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hypoglycemia	OMIM:232700
Glucose/Galactose Malabsorption	Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Abn...	OMIM:606824
Rabies	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:770
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Hyperinsulinism Due To Ucp2 Deficiency	Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Pallor, Reactive hyp...	ORPHA:276556
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to thrive, D...	ORPHA:79319
Combined Malonic And Methylmalonic Acidemia	Vomiting, Failure to thrive, Hypoglycemia, Nasogastric tube feeding, Intermittent diarrhea	ORPHA:289504
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Villous atrophy, Ileus, Chronic diarrhea	OMIM:304790
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Mhc Class Ii Deficiency 1	Failure to thrive, Protracted diarrhea, Malabsorption, Villous atrophy, Colitis	OMIM:209920
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Poor wound healing, Constipation	OMIM:615548
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas...	OMIM:174900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti...	OMIM:603041
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Jaundice, Esophageal varix	ORPHA:75234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ...	ORPHA:276575
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Constipation, Dysphagia, Feed...	ORPHA:35708
Pearson Marrow-Pancreas Syndrome	Erythema, Type I diabetes mellitus, Hepatic failure, Vomiting, Failure to thrive, Exocrine pancre...	OMIM:557000
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender build, Small for gestational age, Failure to thrive, Progeroid facial appearance	ORPHA:50811
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma...	ORPHA:90362
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Obesity, Fasting hypoglycemia	ORPHA:171706
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Hyperglycemia, Mal...	OMIM:615710
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Inflammation of the large intestine, Failure to thrive, Crohn's disease	OMIM:615767
Mednik Syndrome	Erythema, Microcolon, Diarrhea, Volvulus, Death in childhood, Death in infancy, Jejunal atresia, ...	OMIM:609313
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting, Hypoglycemia	OMIM:620137
Cog8-Cdg	Protein-losing enteropathy, Spontaneous hematomas, Failure to thrive, Hypoglycemia	ORPHA:95428
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gastroesophageal reflux, Recurrent hypoglycemia	OMIM:618158
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Hypoglycemia, Chronic constipation, Constipation, Abdominal pain	OMIM:248360
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Temple Syndrome	Bifid uvula, Recurrent hypoglycemia, Nasogastric tube feeding, Obesity, Type II diabetes mellitus...	ORPHA:254516
Mehmo Syndrome	Hypoglycemia, Obesity, Small for gestational age, Cleft palate	OMIM:300148
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Chronic constipation	OMIM:620211
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Hyperglycemia,...	OMIM:269880
Cutaneous Mastocytoma	Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, Diarrhea, Angioed...	ORPHA:79455
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Hypoglycemia	ORPHA:446
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Transaldolase Deficiency	Telangiectasia, Premature skin wrinkling	ORPHA:101028
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Abnormality of t...	ORPHA:2089
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p...	ORPHA:70475
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Failure to thr...	OMIM:614700
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Premature skin wrinkling, Large for gestati...	ORPHA:363705
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Diarrhea, Failure to thrive, Steatorrhea, Jaundice	OMIM:235555
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Failure to thrive, Hypoglycemia	ORPHA:67048
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Hypoglycemia, Episodic vomiting, Small for gestational age, Poor suck	OMIM:615160
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers	ORPHA:498359
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Type I diabetes mellitus, Failure to thrive in infancy, Villous atrophy, Scaling skin, Chronic di...	OMIM:606367
Shigellosis	Hepatic failure, Vomiting, Hypoglycemia, Ulcerative colitis, Failure to thrive in infancy, Bloody...	ORPHA:810
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer, Cutaneous photosensitivity	ORPHA:3217
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia	OMIM:617872
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti...	OMIM:142623
Propionic Acidemia	Constipation, Hypoglycemia	ORPHA:35
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma	ORPHA:369
Dihydrolipoamide Dehydrogenase Deficiency	Feeding difficulties, Decreased liver function, Death in childhood, Hypoglycemia	OMIM:246900
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, Jaundice, Fat malabsor...	OMIM:607765
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Cachexia, Weig...	ORPHA:298
Pancreatic Colipase Deficiency	Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea	ORPHA:309108
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Mala...	ORPHA:2930
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Failure to thrive, Perianal abscess, Gastritis	OMIM:618108
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Nausea and vomiting, Abdominal pain, Weight loss, Acholic stools, Jaundice, Chronic dia...	ORPHA:65682
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Exocrine pancre...	ORPHA:552
Combined Oxidative Phosphorylation Deficiency 47	Dysphagia, Failure to thrive, Hypoglycemia	OMIM:618958
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Intermittent diarrhea, Feeding difficulties	OMIM:620270
Focal Facial Dermal Dysplasia 3, Setleis Type	Anal atresia, Aged leonine appearance	OMIM:227260
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Immunodeficiency 76	Colitis, Chronic diarrhea, Death in childhood	OMIM:619164
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin	ORPHA:2500
Fg Syndrome Type 1	Abnormal large intestine morphology, Gastroesophageal reflux, Facial wrinkling, Slender build, An...	ORPHA:93932
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Failure to thrive, Feeding difficulties	ORPHA:26792
Reticular Dysgenesis	Diarrhea, Skin ulcer, Failure to thrive, Malabsorption, Weight loss	ORPHA:33355
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglyc...	ORPHA:263455
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Villous atrophy, Weight loss, Diabetes mellitus, Gastrointe...	OMIM:614162
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Feeding difficulties, Hypoglycemia	OMIM:616111
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstru...	ORPHA:343
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Deat...	OMIM:608104
Neuroendocrine Tumor Of The Rectum	Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100082
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Feeding difficulties in infancy, Failure to thrive, Hypoglycemia	OMIM:619048
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin, Prematurely aged appearance, Congenital pyloric atresia, Premature graying of hair	ORPHA:2617
Sandhoff Disease, Juvenile Form	Diarrhea, Dysphagia, Failure to thrive, Constipation	ORPHA:309162
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Dermatographic urticaria, Vomiting, Generalized abnormalit...	ORPHA:79456
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Feeding di...	OMIM:245400
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Vomiting, Cyanosis, Hypoglycemia	OMIM:240200
Cholestasis, Progressive Familial Intrahepatic, 1	Jaundice, Diarrhea, Fat malabsorption, Failure to thrive	OMIM:211600
Dracunculiasis	Diarrhea, Nausea and vomiting, Skin ulcer	ORPHA:231
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Vomiting, Failure to thrive, Villous atrophy, Death in childhood, Death in infancy, Abn...	OMIM:212065
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Intermittent diarrhea, Nausea a...	ORPHA:1333
Encephalopathy, Ethylmalonic	Failure to thrive, Petechiae, Death in infancy, Chronic diarrhea, Acrocyanosis, Feeding difficulties	OMIM:602473
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Ataxia-Telangiectasia	Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Telangiectasia of the sk...	ORPHA:100
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Feeding difficulties, Premature skin wrinkling	OMIM:616603
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Vomiting	ORPHA:79159
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition	OMIM:619971
Houge-Janssens Syndrome 1	Chronic diarrhea, Hypoglycemia, Pyloric stenosis	OMIM:616355
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Diarrhea, Failure to thrive, Hypoglycemia, Dry skin, Nausea and vomitin...	ORPHA:199299
Congenital Disorder Of Glycosylation, Type Il	Villous atrophy, Failure to thrive	OMIM:608776
Blue Diaper Syndrome	Increased body weight, Diarrhea, Increased proinsulin:insulin ratio, Recurrent hypoglycemia	ORPHA:94086
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Progeroid fa...	OMIM:606721
Immunodeficiency 17	Anoperineal fistula, Failure to thrive, Death in childhood, Death in infancy, Recurrent gastroent...	OMIM:615607
Glycogen Storage Disease Ixb	Diarrhea, Hypoglycemia	OMIM:261750
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Cutis Laxa, Autosomal Recessive, Type Iib	Gastroesophageal reflux, Failure to thrive, Bruising susceptibility, Redundant skin, Excessive wr...	OMIM:612940
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Feeding difficulties in infancy, Small for gestational age, Hypoglycemia, Gastrostomy tube feedin...	ORPHA:231137
Pyruvate Dehydrogenase E3 Deficiency	Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia, Feeding difficulties	ORPHA:2394
Enteric Anendocrinosis	Vomiting, Type I diabetes mellitus, Diarrhea, Malabsorption	ORPHA:83620
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Failure to thrive, Pallor, Nausea and vomiting, Anorexia, Glos...	ORPHA:90045
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Facial telangiectasia...	ORPHA:100080
Immunodeficiency 15B	Chronic diarrhea, Failure to thrive, Death in infancy	OMIM:615592
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia	ORPHA:178029
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Death in c...	OMIM:243150
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Facial telangiectasia, Derm...	ORPHA:100075
Riboflavin Deficiency	Hypoglycemia, Poor suck	OMIM:615026
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea, Death in childhood	OMIM:266250
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Vomiting, Diarrhea, Hypoglycemia	OMIM:605911
Myoclonic-Astatic Epilepsy	Premature skin wrinkling	ORPHA:1942
Intestinal Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Death in infancy, Dysphagia	ORPHA:178481
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Vomiting, Failure to thrive, Dry skin, Hypoketotic hypoglycemia, Death in infancy	OMIM:610768
Insulinoma	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Zollin...	ORPHA:97279
Folate Malabsorption, Hereditary	Malabsorption, Feeding difficulties in infancy, Diarrhea, Failure to thrive	OMIM:229050
Adiposis Dolorosa	Diarrhea, Xerostomia, Bruising susceptibility, Dry skin, Obesity, Telangiectasia of the skin, Con...	ORPHA:36397
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Vomiting, Hypoglycemia	OMIM:616483
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Feeding difficulties, Small for gestational age, Failure to thrive	OMIM:614702
Angioedema, Hereditary, 1	Erythema, Diarrhea, Vomiting, Angioedema, Intestinal edema, Abdominal pain	OMIM:106100
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Constipation, Hypoinsul...	ORPHA:2126
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation	ORPHA:85447
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Hemochromatosis, Neonatal	Prolonged neonatal jaundice, Hepatic failure, Hypoglycemia	OMIM:231100
Laron Syndrome	Hypoglycemia, Prematurely aged appearance, Truncal obesity	ORPHA:633
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Death in infancy, Anorexia	OMIM:619386
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Bloody diarrhea, Hyperglycemia, Cyanosis, Abnormal g...	ORPHA:391673
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia	ORPHA:163693
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Diabetes mellitus, Pallor, Anorexia	ORPHA:49827
Cog5-Cdg	High palate, Gastrostomy tube feeding in infancy, Premature skin wrinkling	ORPHA:263487
Alpha-Heavy Chain Disease	Abdominal pain, Abnormal small intestine morphology, Malabsorption	ORPHA:100025
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia	OMIM:617638
Ethylmalonic Encephalopathy	Petechiae, Diarrhea, Acrocyanosis, Failure to thrive	ORPHA:51188
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Bloody diarrhea, Intestinal obstruction, Gastrointestinal dysmotil...	ORPHA:67
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Death in infancy, Jaundice	OMIM:617049
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Gastroesophageal reflux, Hypoglycemia, Death in infancy, Abdominal distention, Feeding difficulties	OMIM:620275
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Congenital pyloric atresia, Death in infancy, Esophageal atresia, Fragile skin	OMIM:226730
Geroderma Osteodysplasticum	Cutis laxa, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Premature skin...	OMIM:231070
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Cutis laxa, Abdominal distention, Anal atresia, Recto...	OMIM:270420
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Chronic diarrhea, Failure to thrive, Intestinal inflammation	OMIM:619858
Parenteral Nutrition-Associated Cholestasis	Hepatic failure, Villous atrophy, Abdominal pain, Jaundice, Small for gestational age	ORPHA:567983
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Feeding difficulties	OMIM:616095
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Decreased liver function, Hypoglycemia, Cachexia	ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in a...	OMIM:619055
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Death in childhood, Death in ado...	OMIM:560000
Cholera	Diarrhea, Vomiting, Hypoglycemia, Palmoplantar cutis laxa, Achlorhydria, Abdominal pain, Abdomina...	ORPHA:173
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, High palate, Prematurely aged appearance, Feeding difficulties in infancy	ORPHA:1387
Immunodeficiency 19	Chronic diarrhea, Failure to thrive	OMIM:615617
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Feeding difficulties, Failure to thrive, Hypoglycemia	ORPHA:5
Bachmann-Bupp Syndrome	Hypoglycemia, Dry skin, Large for gestational age, Feeding difficulties in infancy, High palate	OMIM:619075
Syndromic Diarrhea	Intractable diarrhea, Bloody diarrhea, Dry skin, Villous atrophy, Hepatoblastoma, Gastritis, Depe...	ORPHA:84064
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Anteriorly placed anus, Facial wrinkling, Intestinal malrotation, C...	OMIM:305450
Erythroderma Desquamativum	Diarrhea, Failure to thrive	ORPHA:314
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Feeding difficulties in infancy, Neonatal hypoglycemia, Failure to thrive, Death in infancy	OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 19	Feeding difficulties, Hypoglycemia	OMIM:618241
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive	OMIM:613501
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio...	ORPHA:85450
Mitochondrial Complex I Deficiency, Nuclear Type 33	Feeding difficulties, Dysphagia, Small for gestational age, Hypoglycemia	OMIM:618253
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Feeding difficulties	ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Decreased liver function, Protruding to...	OMIM:608779
Cutis Laxa, Autosomal Recessive, Type Iia	Failure to thrive, Redundant skin, Excessive wrinkled skin, Feeding difficulties in infancy, Cuti...	OMIM:219200
Classic Galactosemia	Hepatic failure, Diarrhea, Vomiting, Hypoglycemia, Jaundice, Feeding difficulties	ORPHA:79239
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Feeding difficulties, Failure to thrive, Hypoglycemia	OMIM:614739
Focal Facial Dermal Dysplasia Type Iii	Anal atresia, Prematurely aged appearance, Redundant skin	ORPHA:1807
Mirage Syndrome	Gastroesophageal reflux, Hypoglycemia, Petechiae, Decreased body weight, Achalasia, Chronic diarr...	OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Increased body weight, Nausea, Fasting hypog...	ORPHA:264580
Immunodeficiency 82 With Systemic Inflammation	Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Anorexia, Villous atrophy, Bowel i...	OMIM:619381
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Decreased body weight, Constipation, Abdo...	ORPHA:589821
Nicolaides-Baraitser Syndrome	High, narrow palate, Excessive wrinkled skin	ORPHA:3051
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, Jaundice	OMIM:613812
Pyridoxine-Dependent Epilepsy	Feeding difficulties, Hypoglycemia	ORPHA:3006
Rapadilino Syndrome	High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate	OMIM:266280
Propionic Acidemia	Vomiting, Failure to thrive, Hypoglycemia, Feeding difficulties in infancy, Constipation, Poor ap...	OMIM:606054
American Trypanosomiasis	Diarrhea, Pallor, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine phys...	ORPHA:3386
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Pallor	ORPHA:29822
Fructose-1,6-Bisphosphatase Deficiency	Diarrhea, Vomiting, Hypoglycemia, Pallor, Reye syndrome-like episodes, Fasting hypoglycemia, Neon...	ORPHA:348
Autosomal Dominant Cutis Laxa	Vomiting, Small bowel diverticula, Premature skin wrinkling, Redundant skin, Redundant neck skin,...	ORPHA:90348
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Hereditary Angioedema Type 1	Diarrhea, Dermatographic urticaria, Vomiting, Intestinal edema, Abdominal pain, Nausea, Abnormal ...	ORPHA:100050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ...	OMIM:226300
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Hypoglycemia, Subcutaneous lipoma, Esophagitis, Zollinger-Ellison syndrome	OMIM:131100
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Weight loss, Anor...	ORPHA:98850
Acquired Partial Lipodystrophy	Insulin resistance, Progeroid facial appearance	ORPHA:79087
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections	OMIM:601457
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease...	ORPHA:79327
Pancreatoblastoma	Diarrhea, Vomiting, Abdominal pain, Weight loss, Abdominal distention, Jaundice	ORPHA:677
Congenital Toxoplasmosis	Failure to thrive in infancy, Jaundice, Diarrhea	ORPHA:858
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Fontaine Progeroid Syndrome	High, narrow palate, Gastroesophageal reflux, Failure to thrive, Anteriorly placed anus, Prematur...	OMIM:612289
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Hypoglycemia, Cyanosis, Fasting hypoglycemia, Impaired gluconeogenesis	OMIM:261680
Mitochondrial Pyruvate Carrier Deficiency	Hypoglycemia	OMIM:614741
Pyridoxal Phosphate-Responsive Seizures	Feeding difficulties, Failure to thrive, Hypoglycemia	ORPHA:79096
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Abdominal pain, Colitis	OMIM:613960
Nicolaides-Baraitser Syndrome	High, narrow palate, Failure to thrive, Periorbital wrinkles, Premature skin wrinkling, Excessive...	OMIM:601358
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Failure to thrive, Recurrent hypoglycemia, Impaired gluconeogenesis	OMIM:212140
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Hypoactive bowe...	ORPHA:97278
Acrodermatitis Enteropathica	Erythema, Failure to thrive, Skin ulcer, Generalized abnormality of skin, Furrowed tongue, Dry sk...	ORPHA:37
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death	OMIM:618835
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Hypoglycemia, Hyperglycemia, Pallor, Weight loss, Anorexia	ORPHA:134
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death	OMIM:618839
Long-Olsen-Distelmaier Syndrome	Hypoglycemia, Feeding difficulties, Failure to thrive, Death in childhood	OMIM:620609
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Recurrent hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Neonatal hypogl...	ORPHA:79644
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Nausea and vomi...	ORPHA:97283
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Hypoglycemia, Frequent Giardia lamblia infestation	OMIM:615577
Werner Syndrome	Insulin resistance, Gastrointestinal carcinoma, Subcutaneous calcification, Skin ulcer, Premature...	ORPHA:902
Stuve-Wiedemann Syndrome 1	Smooth tongue, Premature skin wrinkling, Death in infancy, Dysphagia, Feeding difficulties	OMIM:601559
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Feeding difficulties in infancy, Vomiting, Failure to thrive, Hypoglycemia	OMIM:210200
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Vomiting, Failure to thrive, Hypoglycemia, Acute hepatic failure, Hyperglycemia	OMIM:615453
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Feeding diffi...	OMIM:619573
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Death in infancy	OMIM:619446
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Failure to thrive, Prominent veins on trunk, Redundant skin, Redundant neck skin, Excessive wrink...	ORPHA:357074
Glutaric Aciduria Iii	Diarrhea, Vomiting, Failure to thrive	OMIM:231690
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Isolated Agammaglobulinemia	Malabsorption, Diarrhea, Skin ulcer, Failure to thrive	ORPHA:229717
Sepsis In Premature Infants	Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma	OMIM:176000
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Death in infancy, ...	OMIM:278000
Snakebite Envenomation	Erythema, Neuromuscular dysphagia, Diarrhea, Vomiting, Angioedema, Pseudobulbar paralysis, Ecchym...	ORPHA:449285
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Gastroesophageal reflux, Death in infancy, Nonketotic hypoglycemia, Episodic vomiting, Necrotizin...	OMIM:201475
Trichohepatoenteric Syndrome 1	Bifid uvula, Hepatic failure, Intractable diarrhea, Failure to thrive, Villous atrophy, Jaundice,...	OMIM:222470
Short Syndrome	Insulin resistance, Excessive wrinkled skin, Weight loss, Diabetes mellitus, Poor appetite	ORPHA:3163
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Vomiting, Diarrhea, Failure to thrive, Hypoglycemia, Feeding difficulties	OMIM:251000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Failure to thrive, Fasting hyperinsulinemia, Acute hepatic failure, Hypoketot...	ORPHA:71212
Lassa Fever	Diarrhea, Nausea and vomiting, Abdominal pain, Jaundice, Dysphagia, Miscarriage	ORPHA:99824
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Recurrent aphthous stomatitis, A...	OMIM:212750
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic di...	OMIM:613489
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Slender build, Small for gestational age, Failure to thrive, Progeroid facial appearance	OMIM:608154
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Nausea, Constipation, Episodic vomiting, Abdominal di...	ORPHA:100924
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Erythema, Diarrhea, Esophagitis, Intesti...	ORPHA:913
Hsd10 Disease, Infantile Type	Gastrointestinal dysmotility, Dysphagia, Cyanosis, Hypoglycemia	ORPHA:391428
Acquired Hypertrichosis Lanuginosa	Weight loss, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite	ORPHA:2221
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Fasting hypoglycemia,...	ORPHA:2088
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, High palate	OMIM:607906
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Nausea, Feeding difficulties,...	ORPHA:927
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Bruising susceptibility, Nausea and vomiting, Petechiae, A...	ORPHA:99828
Hoyeraal-Hreidarsson Syndrome	Oral leukoplakia, Failure to thrive, Excessive wrinkled skin, Premature graying of hair	ORPHA:3322
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Prolonged neonatal jaundice, Chronic diarrhea	OMIM:619481
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec...	ORPHA:100079
Hsd10 Mitochondrial Disease	Hypoglycemia	OMIM:300438
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Lactose intolerance, Protuberant abdomen, Neonatal hypoglycemia, Intes...	ORPHA:457485
Basilicata-Akhtar Syndrome	Gastroesophageal reflux, Neonatal hypoglycemia, Feeding difficulties, Chronic constipation	OMIM:301032
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, Hi...	OMIM:147060
Ileal Neuroendocrine Tumor	Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Dermatological manifestations ...	ORPHA:100078
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Dermal translucency, Pyloric st...	OMIM:614438
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Dorsocervical fat pad, Decreased body weight, Diabetes mellitus, Small for gestatio...	ORPHA:391408
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia, Fasting hypoglycemia	ORPHA:436174
Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:1267
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Feeding difficulties in infancy, Small for gestational age, Cleft palate	ORPHA:397590
Campomelia, Cumming Type	Abnormal intestine morphology, Prematurely aged appearance, Cleft palate, Death in infancy	ORPHA:1318
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Vomiting, Recurrent hypoglycemia, Increased body weight, Nausea, Ketotic hypoglycemia, ...	ORPHA:79240
Kaposi Sarcoma	Diarrhea, Abnormality of the gastrointestinal tract, Weight loss	ORPHA:33276
Inflammatory Skin And Bowel Disease, Neonatal, 2	Vomiting, Secretory diarrhea, Failure to thrive	OMIM:616069
Dermatosparaxis Ehlers-Danlos Syndrome	Gastroesophageal reflux, Abnormality of subcutaneous fat tissue, Esophagitis, Excessive wrinkled ...	ORPHA:1901
Immunodeficiency 69	Diarrhea, Failure to thrive	OMIM:618963
Glycogen Storage Disease Iii	Hypoglycemia	OMIM:232400
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg...	OMIM:162300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Vomiting, Diarrhea, Failure to thrive, Jaundice, Feeding difficulties	OMIM:250940
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Nausea and vomiting, Redundant neck skin, Weight loss	ORPHA:1842
Familial Glucocorticoid Deficiency	Diarrhea, Vomiting, Failure to thrive, Episodic abdominal pain, Ketotic hypoglycemia, Weight loss...	ORPHA:361
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Diarrhea, Villous atrophy, Abnormal intestine morphology, Enterocolitis...	ORPHA:391487
Addison Disease	Type I diabetes mellitus, Diarrhea, Failure to thrive, Hypoglycemia, Dry skin, Nausea and vomitin...	ORPHA:85138
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Acu...	OMIM:256810
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:264350
Progeroid Syndrome, Petty Type	Failure to thrive, Redundant skin, Reduced subcutaneous adipose tissue, Cutis laxa, Prematurely a...	ORPHA:2963
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nausea, Diarrhea, Dysphagia, Poor appetite	ORPHA:352447
Typhoid	Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Constipation	ORPHA:99745
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti...	OMIM:301074
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age	ORPHA:73272
Immunodeficiency 59 And Hypoglycemia	Hypoglycemia, Recurrent aphthous stomatitis, Malabsorption, Prolonged neonatal jaundice, High pal...	OMIM:233600
Keppen-Lubinsky Syndrome	High palate, Premature skin wrinkling, Failure to thrive, Progeroid facial appearance	ORPHA:435628
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Glycosuria, Hypoglycemia, Neonatal death, Nausea, Jaundice	OMIM:231680
Immunodeficiency 46	Chronic diarrhea, Failure to thrive	OMIM:616740
Glucocorticoid Deficiency 2	Achalasia, Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Foodborne Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:228371
Immunodeficiency 14B, Autosomal Recessive	Colitis, Inflammation of the large intestine, Chronic diarrhea	OMIM:619281
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Reactive hypoglycemia, Nausea, Abdominal pain, Chronic hepatic failure, Const...	ORPHA:469
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Subcutaneous lipoma, Hypoactive bowe...	ORPHA:97261
Shwachman-Diamond Syndrome 2	Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Death in childhood, Death in infa...	OMIM:617941
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Gastroesophageal reflux, Progeroid facial appearance, Insulin-resistant diabetes mel...	ORPHA:2959
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Silver-Russell Syndrome	Insulin resistance, Gastroesophageal reflux, Recurrent hypoglycemia, Failure to thrive in infancy...	ORPHA:813
Arthrogryposis Multiplex Congenita 5	Gastrostomy tube feeding in infancy, Death in infancy, Premature skin wrinkling	OMIM:618947
Barber-Say Syndrome	Velopharyngeal insufficiency, Premature skin wrinkling, Dry skin, Redundant skin, Dermal transluc...	OMIM:209885
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Hepatic failure, Death in childhood, Death in infancy	OMIM:611126
Infantile Systemic Hyalinosis	Skin ulcer, Failure to thrive, Malabsorption, Abnormality of the gastrointestinal tract, Telangie...	ORPHA:2176
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Hypoglycemia, Subcutaneous hemorrhage, Cutis marmorata, Inte...	ORPHA:109
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Failure to thrive, Feeding difficulties in infancy, Ectoderm...	ORPHA:98813
Microscopic Polyangiitis	Erythema, Gastrointestinal hemorrhage, Diarrhea, Skin ulcer, Subcutaneous hemorrhage, Gastrointes...	ORPHA:727
Silver-Russell Syndrome 1	Small for gestational age, Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Bruising susceptibility, Failure to thrive	OMIM:619484
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Anteriorly placed anus, Hypoketotic hypoglycemia, Obesity, Jaundice, Overweight, Small ...	ORPHA:26793
Methanol Poisoning	Type I diabetes mellitus, Diarrhea, Vomiting, Type II diabetes mellitus, Abdominal pain	ORPHA:31825
Pituitary Stalk Interruption Syndrome	Hypoglycemia, Failure to thrive, Death in infancy	ORPHA:95496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Type I diabetes mellitus, Inflammation of the large intestine, Diarrhea, Lymp...	ORPHA:436159
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Failure to thrive, Feeding difficulties	OMIM:177735
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Immunodeficiency 48	Chronic diarrhea, Failure to thrive	OMIM:269840
Yao Syndrome	Diarrhea, Abdominal pain, Weight loss, Xerostomia	OMIM:617321
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema, Poor appetite	OMIM:201100
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea, Melena, Abdominal pain, Dysphagia, Poor ...	ORPHA:319218
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Chronic diarrhea, Failure to thrive	OMIM:615285
Cog4-Cdg	Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Fatal liver fail...	ORPHA:263501
D-Glyceric Aciduria	Gastroesophageal reflux, Failure to thrive, Hypoglycemia	OMIM:220120
Mandibuloacral Dysplasia With Type B Lipodystrophy	Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia...	OMIM:608612
Cockayne Syndrome	Gastroesophageal reflux, Premature skin wrinkling, Cutaneous photosensitivity, Reduced subcutaneo...	ORPHA:191
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease	OMIM:616100
Cold Agglutinin Disease	Nausea and vomiting, Diarrhea, Pallor	ORPHA:56425
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Failure to thrive, Dry skin, Death in infancy, Chronic diarr...	OMIM:614576
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Bruising susceptibility, Striae distensae, Excessive wrinkled skin, ...	ORPHA:758
Carcinoid Syndrome	Lack of bowel sounds, Protracted diarrhea, Facial telangiectasia, Nausea and vomiting, Episodic a...	ORPHA:100093
Hypotonia-Cystinuria Syndrome	Feeding difficulties in infancy, Neonatal hypoglycemia, Failure to thrive	OMIM:606407
Ogden Syndrome	Diarrhea, Vomiting, Facial wrinkling, Redundant skin, Redundant neck skin, Minimal subcutaneous f...	OMIM:300855
Graft Versus Host Disease	Diarrhea, Vomiting, Failure to thrive, Recurrent gastroenteritis, Nausea, Abdominal pain, Scaling...	ORPHA:39812
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck	OMIM:617788
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties	ORPHA:79101
Autosomal Agammaglobulinemia	Malabsorption, High palate, Diarrhea, Failure to thrive	ORPHA:33110
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Maple Syrup Urine Disease, Type Ia	Feeding difficulties in infancy, Vomiting, Hypoglycemia	OMIM:248600
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Severe failure to thrive, Fasting hy...	OMIM:246200
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Diarrhea, Hypoglycemia, Pallor, Death in childhood, Episodic vomiting	OMIM:246450
Immunodeficiency 58	Failure to thrive, Cold urticaria, Recurrent aphthous stomatitis, Esophagitis, Psoriasiform lesio...	OMIM:618131
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Peritonitis, Abdominal pain, Colonic stenos...	ORPHA:90038
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Vomiting, Hypoglycemia, Death in infancy, Feeding difficulties in infancy, Nonketotic h...	OMIM:608836
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Anorexia, Facial telangiectasia, Intermittent jaundice, Episodic abdominal pain, Neopla...	ORPHA:100085
Lissencephaly, X-Linked, 2	High palate, Diarrhea, Feeding difficulties in infancy	OMIM:300215
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Failure to thrive	ORPHA:277
Smith-Kingsmore Syndrome	Large for gestational age, Feeding difficulties, Hypoglycemia	OMIM:616638
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Insulin resistance, Gastroesophageal reflux, Vomiting, Failure to thrive, Es...	ORPHA:96182
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Submucous cleft hard palate, High palate, Chronic diarrhea, Pyloric stenosis	ORPHA:457279
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia	ORPHA:364
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Diarrhea, Failure to thrive, Malabsorption, Protruding tongue, Macroglossia	OMIM:242860
Acute Adrenal Insufficiency	Diarrhea, Failure to thrive, Hypoglycemia, Dry skin, Nausea and vomiting, Weight loss, Constipati...	ORPHA:95409
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Small for gestational age, Recurrent hypoglycemia	OMIM:616817
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Hypoketotic hypoglycemia, Feeding difficulties in infancy, Fulminant hepat...	OMIM:231530
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hypoketotic hypoglycemia, Vomiting	OMIM:600649
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Malnutrition, F...	ORPHA:275761
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Specific Granule Deficiency 2	Death in infancy, Intractable diarrhea, Failure to thrive, Death in childhood	OMIM:617475
Combined Oxidative Phosphorylation Deficiency 59	Ketotic hypoglycemia, Vomiting, Failure to thrive, Feeding difficulties	OMIM:620646
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia	OMIM:618120
Immunodeficiency 9	Failure to thrive, Recurrent aphthous stomatitis, Death in infancy, Ectodermal dysplasia, Chronic...	OMIM:612782
Glycogen Storage Disease Ia	Hypoglycemia, Protuberant abdomen, Fasting hypoglycemia, Intermittent diarrhea, Hepatocellular ca...	OMIM:232200
Congenital Myopathy 20	High palate, Chronic diarrhea, Failure to thrive	OMIM:620310
Immunodeficiency 27A	Diarrhea, Weight loss, Anorexia	OMIM:209950
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum, Recurrent aphthous stomatitis, Diarrhea	OMIM:150550
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption	ORPHA:96180
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Obesity, Type II diabetes mellitus, Protrud...	ORPHA:870
Immunodeficiency 115 With Autoinflammation	Intermittent diarrhea, Intestinal lymphangiectasia	OMIM:620632
Tenorio Syndrome	Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, Hypoinsulinemia, Macroglossia	OMIM:616260
Immunodeficiency 60 And Autoimmunity	Colitis, Chronic diarrhea, Ulcerative colitis, Crohn's disease	OMIM:618394
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Dry skin, Red...	ORPHA:1340
Galactosemia I	Vomiting, Diarrhea, Failure to thrive, Decreased liver function	OMIM:230400
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Death in inf...	OMIM:609069
Autosomal Recessive Cutis Laxa Type 2A	Progeroid facial appearance, Excessive wrinkled skin	ORPHA:357058
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Diarrhea	ORPHA:2575
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Abdominal distention, S...	ORPHA:309031
X-Linked Agammaglobulinemia	Skin ulcer, Failure to thrive, Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis	ORPHA:47
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	High palate, Feeding difficulties, Failure to thrive, Hypoglycemia	OMIM:618005
Immunodeficiency 40	Focal active colitis, Intermittent diarrhea, Chronic diarrhea, Rectal fistula	OMIM:616433
Juvenile Polyposis Syndrome	Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Failure to thri...	ORPHA:2929
Renal Agenesis, Bilateral	Abnormal intestine morphology, Tracheoesophageal fistula, Nonketotic hypoglycemia, Cleft palate	ORPHA:1848
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Colitis, Cutis marmorata, Chronic diarrhea	OMIM:301220
B4Galt1-Cdg	Diarrhea, Small for gestational age, Redundant neck skin	ORPHA:79332
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Immunodeficiency 56	Hepatic failure, Recurrent infection of the gastrointestinal tract, Failure to thrive, Chronic di...	OMIM:615207
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Prolonged neonatal jaundice, Neonatal hypoglycemia	ORPHA:199296
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia	OMIM:614736
Trichothiodystrophy 1, Photosensitive	Dry skin, Malabsorption, Death in infancy, Intestinal obstruction, Telangiectasia, Chronic diarrh...	OMIM:601675
Congenital Syphilis	Diarrhea, Hypoglycemia, Palmoplantar scaling skin, Malabsorption, Petechiae, Prolonged neonatal j...	ORPHA:499009
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Recurrent aphthous stomatitis, Recurrent infection of the gastrointestinal tract, Pyode...	ORPHA:486
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia	OMIM:201400
Pyruvate Carboxylase Deficiency	Hypoglycemia	OMIM:266150
Sotos Syndrome	High, narrow palate, Gastroesophageal reflux, Glucose intolerance, Increased body weight, Episodi...	OMIM:117550
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Diarrhea, Pallor, Nausea, Weight loss, Abdominal pain, Flushing, Urticaria	ORPHA:98849
De Barsy Syndrome	Progeroid facial appearance, Failure to thrive, Prominent veins on trunk, Excessive wrinkled skin...	ORPHA:2962
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Feeding difficulties, Hypoglycemia	OMIM:617710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive	OMIM:618495
Alg9-Cdg	Bifid uvula, Vomiting, Gastroesophageal reflux, Diarrhea, Villous atrophy	ORPHA:79328
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia	OMIM:202200
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Decreased liver function, Hypoglycemia, Reye syndrome-like episodes, Dysphagia, Feeding...	ORPHA:26791
Complement Component 4B Deficiency	Chronic diarrhea	OMIM:614379
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Generalized abnormality of skin, Anal fissure, Perianal dermatitis, Recurrent gastroent...	ORPHA:294023
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Hypoglycemia, Decreased liver function, Jaundice, Small for gestational age	OMIM:617093
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypoglycemia, Small for gestational age, Feeding difficulties, Poor suck	OMIM:607143
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Glycosuria, Failure to thrive, Hypoglycemia, Malnutrition,...	OMIM:229600
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Hypoglycemia, Acute hepatic fail...	OMIM:276700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Diarrhea	OMIM:614069
Dyskeratosis Congenita, Autosomal Dominant 2	Oral leukoplakia, Failure to thrive, Premature graying of hair, Chronic diarrhea, Esophageal stri...	OMIM:613989
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Vomiting, Hypoglycemia	OMIM:201450
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Death in infancy, Neonatal death, Jaundice, Neonatal hypoglycemia, Dysphagia, ...	OMIM:617248
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Death in infancy, Neonatal death	OMIM:620300
Caspase 8 Deficiency	Chronic diarrhea, Failure to thrive	OMIM:607271
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Recurrent hypoglycemia, Pallor, Weight loss, Nonketotic hypoglycemia, Reye syndrome-lik...	ORPHA:20
Stevens-Johnson Syndrome	Erythema, Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weig...	ORPHA:36426
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Pallor, Na...	ORPHA:544482
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Vomiting, Failure to thrive, Hypoglycemia, Failure to thrive in infancy, Exocrine pancreatic insu...	<

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