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Gene: Myo5b MGI:106598

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Malnutrition, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Abnormal intestine mor... OMIM:606528
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Early cutaneous photosensitivity, Diarrhea, Erythema, Colitis OMIM:219095
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Abdominal pain, Vomiting, Decreased body weight ORPHA:314811
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Reactive hypoglycemia, Malabsorption, Diarrhea, Obesity, Hypoinsulinemia OMIM:600955
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Perianal erythema, Duodenitis, Bloody diarrhea, Perioral erythema, Failure to th... OMIM:614328
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Fail... OMIM:606824
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Weight lo... OMIM:620045
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Death in childhood, Protein-losing enteropathy, Vomit... OMIM:602579
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Angioedema, Hereditary, 8
Angioedema, Episodic vomiting, Diarrhea, Abdominal pain OMIM:619367
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protein-losing enteropathy OMIM:277175
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Failure to thrive, Hypoglycemia OMIM:617950
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Urticaria, F... OMIM:616050
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, Feeding difficulties in infancy, Cleft palate, Gastrojej... ORPHA:231147
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Alg8-Cdg
Abnormality of the gastrointestinal tract, Abnormality of subcutaneous fat tissue, Small for gest... ORPHA:79325
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Enteric Anendocrinosis
Type I diabetes mellitus, Diarrhea, Vomiting, Malabsorption ORPHA:83620
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Brunner Syndrome
Diarrhea, Flushing OMIM:300615
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Feeding difficulties in infancy, High palate, Decreased ... ORPHA:231140
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Reticular Dysgenesis
Malabsorption, Diarrhea, Skin ulcer, Weight loss, Failure to thrive ORPHA:33355
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:610090
Cog7-Cdg
Small for gestational age, Jaundice, Diarrhea, Feeding difficulties, Excessive wrinkled skin, Fai... ORPHA:79333
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Intermittent jaundice, Death in childhood, Hepatocellular carcinoma, Fat malabsorption,... OMIM:601847
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, Generalize... ORPHA:79457
Refractory Celiac Disease
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... ORPHA:398063
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Hypoglycemia ORPHA:664
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding OMIM:619510
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections OMIM:608971
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Microphthalmia, Syndromic 8
Premature skin wrinkling, Cleft palate OMIM:601349
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia OMIM:261650
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Dysphagia, We... ORPHA:2070
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Feeding di... ORPHA:276580
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pallor, Fasting hypoglycemia, Hyp... ORPHA:276608
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Netherton Syndrome
Villous atrophy, Angioedema, Urticaria, Failure to thrive, Recurrent infection of the gastrointes... OMIM:256500
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive OMIM:209920
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Feeding difficulties, Re... ORPHA:276556
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive OMIM:304790
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Death in early adulthood, Intestinal pseudo-obstruction, Gastroparesis, Cach... OMIM:603041
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Vomiting, Intermittent diarrhea, Failure to thrive, Nasogastric tube feeding ORPHA:289504
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Erythema, C... OMIM:557000
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Poor wound healing OMIM:615548
Cholesteryl Ester Storage Disease
Nausea and vomiting, Jaundice, Diarrhea, Esophageal varix, Hepatic failure ORPHA:75234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Feeding difficulties, Pallor,... ORPHA:276575
Mitchell-Riley Syndrome
Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly p... OMIM:615710
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Fasting hypoglycemia ORPHA:171706
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build ORPHA:50811
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Cutaneous photosensitivity ORPHA:3217
Mednik Syndrome
Death in infancy, Jejunal atresia, Diarrhea, Erythema, Death in childhood, Neonatal death, Volvul... OMIM:609313
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Hypoglycemia, Abdominal pain OMIM:620137
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Cog8-Cdg
Spontaneous hematomas, Failure to thrive, Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Temple Syndrome
Small for gestational age, Feeding difficulties in infancy, Obesity, Feeding difficulties, Recurr... ORPHA:254516
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gastroesophageal reflux OMIM:618158
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... ORPHA:2930
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Diarrhea, Steatorrhea, Hepatic failure, Failure to thrive OMIM:235555
Hyperinsulinemic Hypoglycemia, Familial, 8
Chronic constipation, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Mehmo Syndrome
Small for gestational age, Obesity, Cleft palate, Hypoglycemia OMIM:300148
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Glycosuria, Postprandial hypergl... ORPHA:2089
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Prominent superficial veins, Large for gestational age, Pyloric sten... ORPHA:363705
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia, Poor suck, Decreased liver function, Episodic vomiting OMIM:615160
Transaldolase Deficiency
Premature skin wrinkling, Telangiectasia ORPHA:101028
Short Syndrome
Prominent superficial veins, Small for gestational age, Insulin resistance, Insulin-resistant dia... OMIM:269880
Cutaneous Mastocytoma
Telangiectasia of the skin, Abdominal pain, Angioedema, Erythema, Diarrhea, Darier's sign, Flushi... ORPHA:79455
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to t... OMIM:607765
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Scaling skin, Type I diabetes me... OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Psoriasiform lesion, Chronic diarrhea, Inflammation of the l... OMIM:614700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma ORPHA:369
Dihydrolipoamide Dehydrogenase Deficiency
Feeding difficulties, Hypoglycemia, Decreased liver function, Death in childhood OMIM:246900
Shigellosis
Failure to thrive in infancy, Hypoglycemia, Anorexia, Abdominal pain, Intestinal perforation, Per... ORPHA:810
Propionic Acidemia
Constipation, Hypoglycemia ORPHA:35
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Vomiting, Hypoglycemia, Hepatic failure OMIM:617872
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... ORPHA:298
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s... ORPHA:65682
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Dysphagia OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Feeding difficulties OMIM:616111
Immunodeficiency 76
Chronic diarrhea, Colitis, Death in childhood OMIM:619164
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Glycosuria, Vomitin... ORPHA:263455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Ketotic hypoglycemia, Feeding difficulties ORPHA:26792
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive OMIM:618108
Isolated Agammaglobulinemia
Diarrhea, Failure to thrive, Skin ulcer, Malabsorption ORPHA:229717
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Anal atresia OMIM:227260
Acrogeria
Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer ORPHA:2500
Fg Syndrome Type 1
Abnormal large intestine morphology, Facial wrinkling, Malrotation of colon, Pyloric stenosis, Hi... ORPHA:93932
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:619048
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... ORPHA:343
Immunodeficiency 48
Diarrhea, Failure to thrive OMIM:269840
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Cyanosis, Vomiting, Hypoglycemia OMIM:240200
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption, Failure to thrive, Jaundice OMIM:211600
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein... OMIM:614162
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Prematurely aged appearance, Congenital pyloric atresia ORPHA:2617
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased... OMIM:608104
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Feeding difficulties, Death in childhood, Neonatal death, Failure... OMIM:245400
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Darier's sign, Urticaria, De... ORPHA:79456
Familial Pancreatic Carcinoma
Nausea and vomiting, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestinal obst... ORPHA:1333
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Dracunculiasis
Nausea and vomiting, Diarrhea, Skin ulcer ORPHA:231
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Glycogen Storage Disease Ixb
Diarrhea, Hypoglycemia OMIM:261750
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Villous atrophy, Feeding difficulties in infancy, Abnormal subcutaneous fat tis... OMIM:212065
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... ORPHA:100082
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Ketotic hypoglycemia ORPHA:79159
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Ataxia-Telangiectasia
Diabetes mellitus, Telangiectasia of the skin, Prematurely aged appearance, Premature graying of ... ORPHA:100
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea, Hypoglycemia OMIM:616355
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Feeding difficulties, Cutis laxa, Dermal translucency OMIM:616603
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Blue Diaper Syndrome
Diarrhea, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Intestinal Botulism
Nausea and vomiting, Death in infancy, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
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
Failure to thrive, Hypoglycemia, Feeding difficulties, Vomiting, Hepatic failure ORPHA:2394
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Hypoglycemia, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Dry skin, ... ORPHA:199299
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Ga... OMIM:612940
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Small for gestational ... OMIM:606721
Immunodeficiency 15B
Death in infancy, Failure to thrive, Chronic diarrhea OMIM:615592
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Pallor, Failure to thrive, Glos... ORPHA:90045
Riboflavin Deficiency
Poor suck, Hypoglycemia OMIM:615026
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Erythema, Chronic diarrhea, Skin ulcer, Furrowed tongue, ... ORPHA:37
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,... OMIM:243150
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Immunodeficiency 17
Death in infancy, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent... OMIM:615607
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea, Death in childhood OMIM:266250
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Solitary Fibrous Tumor
Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypoglycemia, Constipation, Hypoinsul... ORPHA:2126
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Diarrhea, Dry skin, Vomiting, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Urti... ORPHA:98850
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Angioedema, Erythema, Diarrhea, Vomiting OMIM:106100
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia, Jaundice, Hepatic failure, Failure to thrive OMIM:617049
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Jaundice, Vomiting, Hypoglycemia OMIM:616483
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Bloody diarrh... ORPHA:100080
Adiposis Dolorosa
Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Constipation, Dry skin, Bruising susce... ORPHA:36397
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia, Feeding difficulties OMIM:614702
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, W... ORPHA:100075
Laron Syndrome
Truncal obesity, Prematurely aged appearance, Hypoglycemia ORPHA:633
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Anorexia OMIM:619386
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... OMIM:231070
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Diabetes mellitus, Pallor, Anorexia ORPHA:49827
Cog5-Cdg
Premature skin wrinkling, High palate, Gastrostomy tube feeding in infancy ORPHA:263487
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Small for gestational age, Abdominal pain, Jaundice, Hepatic failure ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia, Abdominal distention, Feeding difficulties, Gastroesophageal reflux OMIM:620275
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Cutis laxa, Recto... OMIM:270420
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Hypoglycemia, Death in adolescence, Feeding difficul... OMIM:619055
Cholera
Miscarriage, Achlorhydria, Hypoglycemia, Abdominal pain, Diarrhea, Vomiting, Abdominal cramps, Pa... ORPHA:173
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cachexia, Diarrhea, Vomiting, Decreased liver function ORPHA:42
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Chronic diarrhea, Failure to thrive, Intestinal inflammation OMIM:619858
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Hemochromatosis, Neonatal
Hepatic failure, Hypoglycemia, Prolonged neonatal jaundice OMIM:231100
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis OMIM:617638
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Malabsorption, Chronic diarrhea, High palate, Recurrent aphthous stomatitis, Prolon... OMIM:233600
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Chronic diarrhea, Steatorrhea OMIM:619481
Ethylmalonic Encephalopathy
Acrocyanosis, Diarrhea, Failure to thrive, Petechiae ORPHA:51188
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Small for gestational age, Gastritis, Blood... ORPHA:84064
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Death in adolescence, Vomiting, Death in childhood, Type I diabetes mellitus, Failure t... OMIM:560000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Feeding difficulties ORPHA:5
Cataract-Intellectual Disability-Hypogonadism Syndrome
Feeding difficulties in infancy, High palate, Prematurely aged appearance, Furrowed tongue ORPHA:1387
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Feeding difficulties OMIM:618241
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Feeding difficulties in infancy, High palate, Dry skin OMIM:619075
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Death in infancy, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Opitz-Kaveggia Syndrome
Anal stenosis, Intestinal malrotation, Facial wrinkling, Pyloric stenosis, Narrow palate, Cleft p... OMIM:305450
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Hyperinsulinemia, Feeding difficulties, Failure to thrive ORPHA:79237
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Mitochondrial Complex I Deficiency, Nuclear Type 33
Feeding difficulties, Small for gestational age, Hypoglycemia, Dysphagia OMIM:618253
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Classic Galactosemia
Hypoglycemia, Jaundice, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure ORPHA:79239
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Feeding difficulties ORPHA:79096
Immunodeficiency 19
Chronic diarrhea, Failure to thrive OMIM:615617
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Hypoglycemia, Protruding tongue, Jaundice, Feeding difficulties, Excessive wrin... OMIM:608779
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Vomiting... ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 3
Jaundice, Hepatic failure, Diarrhea, Hematochezia, Acholic stools, Steatorrhea, Failure to thrive OMIM:613812
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Feeding difficulties OMIM:614739
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Gastroesophageal reflux, Constipation, Dysphagia, ... ORPHA:589821
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Cutis Laxa, Autosomal Recessive, Type Iia
Redundant skin, Feeding difficulties in infancy, Cutis laxa, Excessive wrinkled skin, High palate... OMIM:219200
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Feeding difficulties ORPHA:3006
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Vomiting, Pallor, Death in childhood OMIM:246450
Mirage Syndrome
Hypoglycemia, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Decreased body wei... OMIM:617053
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Esophageal atresia, Congenital pyloric atresia, Intractable diarrhea, Fragile skin OMIM:226730
Propionic Acidemia
Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Constipation, Vomiting, Failure to ... OMIM:606054
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Focal Facial Dermal Dysplasia Type Iii
Prematurely aged appearance, Redundant skin, Anal atresia ORPHA:1807
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... OMIM:619381
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Reye syndrome-like episodes, Diarrhea, Vomiting, Pallor, Fasting hypoglycemia, Neon... ORPHA:348
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... OMIM:226300
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Pallor ORPHA:29822
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, High, narrow palate ORPHA:3051
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
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Urticaria, Dermatogr... ORPHA:100050
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Feeding difficultie... ORPHA:90348
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hypoglycemia, Fasting hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261680
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Congenital Toxoplasmosis
Jaundice, Failure to thrive in infancy, Diarrhea ORPHA:858
Immunodeficiency 9
Death in infancy, Chronic diarrhea, Ectodermal dysplasia, Recurrent aphthous stomatitis, Stomatit... OMIM:612782
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Diarrhea, Malabsorption OMIM:602347
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... ORPHA:79327
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea OMIM:176000
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive OMIM:242860
Carnitine Deficiency, Systemic Primary
Diarrhea, Recurrent hypoglycemia, Vomiting, Impaired gluconeogenesis, Failure to thrive OMIM:212140
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Pallor, Ach... ORPHA:3386
Acquired Partial Lipodystrophy
Insulin resistance, Progeroid facial appearance ORPHA:79087
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97278
Retinal Dystrophy And Microvillus Inclusion Disease
Death in infancy, Chronic diarrhea OMIM:619446
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Diabetes mellitus, Anor... ORPHA:97283
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Small for ges... OMIM:612289
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Feeding difficulties in infancy, Failure to thrive, Vomiting, Hypoglycemia OMIM:210200
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia, Decreased liver function OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia, Decreased liver function OMIM:618839
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy, Necrotizing enterocolitis, Gastroesophageal reflux, Ep... OMIM:201475
Autosomal Agammaglobulinemia
Diarrhea, Failure to thrive, High palate, Malabsorption ORPHA:33110
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis, Subcutaneous lipoma OMIM:131100
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Jaundice... ORPHA:90051
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Diabetes mellitus, Anor... ORPHA:97280
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hypoglycemia, Vomiting, Hyperglycemia, Failure to thrive OMIM:615453
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Protuberant abdomen, Intestinal polyp, Neonatal h... ORPHA:457485
Stuve-Wiedemann Syndrome 1
Death in infancy, Feeding difficulties, Smooth tongue, Dysphagia, Premature skin wrinkling OMIM:601559
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Snakebite Envenomation
Angioedema, Erythema, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paralysis, Vomiting, Ecchym... ORPHA:449285
Nicolaides-Baraitser Syndrome
High, narrow palate, Feeding difficulties, Excessive wrinkled skin, Constipation, Periorbital wri... OMIM:601358
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis OMIM:613960
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea ORPHA:85445
Trichohepatoenteric Syndrome 1
Villous atrophy, Small for gestational age, Jaundice, Hepatic failure, Intractable diarrhea, Fail... OMIM:222470
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Diarrhea, Weight loss, Vomiting, Pallor, Hyperglycemia ORPHA:134
Immunodeficiency 69
Diarrhea, Failure to thrive OMIM:618963
Werner Syndrome
Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Insulin resistance, Lack of... ORPHA:902
Celiac Disease, Susceptibility To, 1
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... OMIM:212750
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, P... OMIM:278000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Fasting hyperinsulinemia, Hypog... ORPHA:71212
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation, Hypoglycemia OMIM:615577
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Villous atrophy, Jaundi... OMIM:619573
Fanconi-Bickel Syndrome
Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Abdominal distention, Glycosuri... ORPHA:2088
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting... ORPHA:391673
Short Syndrome
Diabetes mellitus, Poor appetite, Insulin resistance, Weight loss, Excessive wrinkled skin ORPHA:3163
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Eryt... ORPHA:913
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection o... OMIM:613489
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis ORPHA:2221
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... ORPHA:100924
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build OMIM:608154
Hsd10 Disease, Infantile Type
Gastrointestinal dysmotility, Cyanosis, Hypoglycemia, Dysphagia ORPHA:391428
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... ORPHA:357074
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... ORPHA:927
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Bruising susceptibili... ORPHA:99828
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Lassa Fever
Nausea and vomiting, Miscarriage, Abdominal pain, Jaundice, Diarrhea, Dysphagia ORPHA:99824
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Poor appetite, Malabsorption, Abdominal distention, Fasting ... OMIM:227810
Basilicata-Akhtar Syndrome
Chronic constipation, Gastroesophageal reflux, Neonatal hypoglycemia, Feeding difficulties OMIM:301032
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Excessive wrinkled skin, Failure to thrive, Oral leukoplakia ORPHA:3322
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Feeding difficulties, Recurrent hypoglycemia, Hyperinsulinemic hypogly... ORPHA:79644
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Nausea, Gastrointestinal obstruction, Weig... ORPHA:100078
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Diarrhea, Hepatocellular adenoma, Increased body weight, Recurrent hypoglyc... ORPHA:79240
X-Linked Agammaglobulinemia
Malabsorption, Chronic diarrhea, Skin ulcer, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Fasting hypoglycemia ORPHA:436174
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Decreased body... ORPHA:391408
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:264350
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Secretory diarrhea, Vomiting OMIM:616069
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Silver-Russell Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Small for gestational age, Cleft palate, Hypoglycemia ORPHA:397590
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss ORPHA:33276
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Pyloric stenosis, Cutis laxa, Excessive wrinkled skin, Dermal transl... OMIM:614438
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, High, narrow palate, Di... OMIM:162300
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Redundant neck skin, Diarrhea, Weight loss, Failure to thrive ORPHA:1842
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Weight loss, Vomiting ORPHA:677
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Addison Disease
Nausea and vomiting, Hypoglycemia, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Dry skin, ... ORPHA:85138
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hypoglycemia, Hepatocellular carcinoma, Reye syndrome-like episodes, Jaund... OMIM:256810
Campomelia, Cumming Type
Death in infancy, Prematurely aged appearance, Abnormal intestine morphology, Cleft palate ORPHA:1318
Dermatosparaxis Ehlers-Danlos Syndrome
Abnormality of subcutaneous fat tissue, Hiatus hernia, Excessive wrinkled skin, Gastroesophageal ... ORPHA:1901
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive ORPHA:73272
Shwachman-Diamond Syndrome 2
Death in infancy, Diarrhea, Death in childhood, High palate, Steatorrhea, Failure to thrive, Exoc... OMIM:617941
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology, Ty... ORPHA:391487
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Jaundice, Vomiting, Glycosuria, Neonatal death, Nausea OMIM:231680
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Fai... ORPHA:2963
Hereditary Fructose Intolerance
Abdominal pain, Reactive hypoglycemia, Abdominal distention, Jaundice, Diarrhea, Constipation, Vo... ORPHA:469
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97261
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Immunodeficiency 46
Chronic diarrhea, Failure to thrive OMIM:616740
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Anorexia, Diarrhea, Hypoglycemic seizures, Episodic abdominal pain, Weight ... ORPHA:361
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain ORPHA:99745
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Feeding difficulties, Recurr... ORPHA:813
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Weight loss OMIM:617321
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... OMIM:301074
Arthrogryposis Multiplex Congenita 5
Death in infancy, Premature skin wrinkling, Gastrostomy tube feeding in infancy OMIM:618947
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:619281
Keppen-Lubinsky Syndrome
Premature skin wrinkling, Failure to thrive, High palate, Progeroid facial appearance ORPHA:435628
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Lack of facial subcutaneous fat, Prematurely aged appearance, Progeroi... ORPHA:2959
Barber-Say Syndrome
Redundant skin, Velopharyngeal insufficiency, High palate, Premature skin wrinkling, Dry skin, De... OMIM:209885
D-Glyceric Aciduria
Failure to thrive, Gastroesophageal reflux, Hypoglycemia OMIM:220120
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Cutis marmorata, Hypoglycemia, Abnormal large intestine morphology, Cachexi... ORPHA:109
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hepatic failure, Hypoglycemia, Death in childhood OMIM:611126
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive, Bruising susceptibility OMIM:619484
Silver-Russell Syndrome 1
Small for gestational age, Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Chronic diarrhea, Ectodermal dysplasia, Inflammation of the larg... ORPHA:98813
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Cutis marmorata, Abdominal pain, Diarrhea, Eryt... ORPHA:727
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Overweight, Jaundice, Obesity, Feeding difficulties, Anteriorly placed... ORPHA:26793
Pituitary Stalk Interruption Syndrome
Death in infancy, Failure to thrive, Hypoglycemia ORPHA:95496
Maple Syrup Urine Disease
Feeding difficulties in infancy, Vomiting, Hypoglycemia OMIM:248600
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Methanol Poisoning
Abdominal pain, Diarrhea, Vomiting, Type II diabetes mellitus, Type I diabetes mellitus ORPHA:31825
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... ORPHA:436159
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... OMIM:608612
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Poor appetite, Diarrhea, Perioral erythema, Dry skin OMIM:201100
Down Syndrome
Aganglionic megacolon, Prematurely aged appearance, Protruding tongue, Obesity, Narrow palate, Ma... ORPHA:870
Graft Versus Host Disease
Abdominal pain, Jaundice, Diarrhea, Gastrointestinal inflammation, Vomiting, Scaling skin, Recurr... ORPHA:39812
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Whipple Disease
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Cachexia, Malabsorption, Diarrhea, Insulin... ORPHA:3452
Hypotonia-Cystinuria Syndrome
Feeding difficulties in infancy, Failure to thrive, Neonatal hypoglycemia OMIM:606407
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Chronic diarrhea, Esophageal varix, Dry skin, Inflammation of the large intesti... OMIM:614576
Donohue Syndrome
Abdominal distention, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglyc... OMIM:246200
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea, Pallor ORPHA:56425
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Vomiting, Hypoglycemia OMIM:251000
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Death in infancy, Hypoglycemia, Feeding difficulties in infancy, Diarrhe... OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Failure to thrive, Poor suck OMIM:617788
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Vipoma
Nausea and vomiting, Diabetes mellitus, Anorexia, Malabsorption, Poor appetite, Erythema, Secreto... ORPHA:97282
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Telangiectasia of the skin, Lack of skin elasticity, Excessive wrink... ORPHA:758
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... ORPHA:319218
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Diabetes mellitus, Cachexia, Feeding difficulties in infancy... ORPHA:191
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Failure to thrive ORPHA:277
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Maternal diab... OMIM:300855
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Acute Adrenal Insufficiency
Nausea and vomiting, Hypoglycemia, Anorexia, Abdominal pain, Diarrhea, Dry skin, Weight loss, Con... ORPHA:95409
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hypoglycemic seizures, Hypoketotic hy... OMIM:231530
Smith-Kingsmore Syndrome
Feeding difficulties, Hypoglycemia, Large for gestational age OMIM:616638
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, I... ORPHA:96182
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis,... ORPHA:90038
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Decreased body weight, Type I diabetes mellitus, Fat malabsorption ORPHA:96180
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarr... OMIM:601675
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Immunodeficiency 58
Helicobacter pylori infection, Psoriasiform lesion, Chronic diarrhea, Cutaneous photosensitivity,... OMIM:618131
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Hypoketotic hypoglycemia, Feeding difficulties OMIM:255120
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... ORPHA:275761
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Pyoderma gangrenosum, Recurrent aphthous stomatitis OMIM:150550
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Glycogen Storage Disease Ia
Hypoglycemia, Hepatocellular carcinoma, Fasting hypoglycemia, Protuberant abdomen, Intermittent d... OMIM:232200
Galactosemia I
Diarrhea, Failure to thrive, Vomiting, Decreased liver function OMIM:230400
Specific Granule Deficiency 2
Intractable diarrhea, Death in infancy, Failure to thrive, Death in childhood OMIM:617475
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Hypoglycemia OMIM:201450
Tenorio Syndrome
Hypoglycemia, Macroglossia, Gastroesophageal reflux, Recurrent aphthous stomatitis, Hypoinsulinemia OMIM:616260
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive, High palate OMIM:620310
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Hypoketotic hypoglycemia OMIM:600649
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Hyperglyc... OMIM:609069
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, High palate, Hypoglycemia, Feeding difficulties OMIM:618005
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis OMIM:618394
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Cutis marmorata, Anorexia, Malabsorption, Diarrhea, Urticaria, Pallo... ORPHA:33226
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Failure to thrive in infancy, Cutis marmorata OMIM:301220
Deeah Syndrome
Death in infancy, Malabsorption, Chronic diarrhea, Narrow palate, Death in adolescence, Death in ... OMIM:619004
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Intermittent jaundice, Weight loss, Neoplasm of the liv... ORPHA:100085
Wild Type Attr Amyloidosis
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... ORPHA:330001
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Failure to thrive in infancy, Redundant skin, Feeding ... ORPHA:1340
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hypoglycemia, Hepatic failure, Paralytic ileu... OMIM:276700
Immunodeficiency 27A
Diarrhea, Anorexia, Weight loss OMIM:209950
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Autosomal Dominant Severe Congenital Neutropenia
Abdominal pain, Diarrhea, Pyoderma gangrenosum, Recurrent aphthous stomatitis, Recurrent infectio... ORPHA:486
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... ORPHA:100093
B4Galt1-Cdg
Diarrhea, Redundant neck skin, Small for gestational age ORPHA:79332
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Feeding difficulties in infancy, Jaundice, Vomiting, Hepatic failure, Failure to th... OMIM:251880
Sotos Syndrome
High, narrow palate, Increased body weight, Narrow palate, Feeding difficulties, Glucose intolera... OMIM:117550
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia OMIM:201400
Immunodeficiency 40
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula OMIM:616433
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Urticaria, Pallor, Nausea, Flushing ORPHA:98849
Immunodeficiency 56
Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Hepatic f... OMIM:615207
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive OMIM:618495
Alg9-Cdg
Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula ORPHA:79328
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Progeroid facial appearance ORPHA:357058
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Reye syndrome-like episodes, Feeding difficulties, Vomiting, Decreased liver functi... ORPHA:26791
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Feeding difficulties OMIM:617710
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Abdominal pain, Jaundice, Malnutrition, Vomiting, Glyc... OMIM:229600
Neonatal Inflammatory Skin And Bowel Disease
Anal fissure, Erythema, Perianal dermatitis, Bloody diarrhea, Scaling skin, Recurrent gastroenter... ORPHA:294023
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Jaundice, Feeding difficulties, Dysphagia, Neonatal death, Failure to thrive, P... OMIM:617248
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate OMIM:614069
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Hypoglycemia ORPHA:156
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Vomiting, Hypoglycemia, Feeding difficulties OMIM:210210
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypoglycemia, Feeding difficulties, Failure to thrive, Poor suck OMIM:607143
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hypoglycemia, Jaundice, Decreased liver function, Failure to thrive OMIM:617093
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Chronic diarrhea, Premature graying of hair, Failure to thrive, Oral leukop... OMIM:613989
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive in infancy, Hypoglycemia, High palate, Vomiting, Prolonged neonatal jaundice, F... OMIM:619418
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... ORPHA:342
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Hypoglycemia, Abdominal distention, Jaundice, Hepatic failure, Failure to thrive OMIM:617156
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, High ... ORPHA:2962
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Anorexia, Reye syndrome-like episodes, Jaundice, Diarrhea, Weight loss, ... ORPHA:20
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, ... ORPHA:544482
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance OMIM:300953
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Small for gestational age, Prematurel... OMIM:264090
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia, Feeding difficulties, Macroglossia, High palate OMIM:614501
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Vomiting ORPHA:230
Caspase 8 Deficiency
Chronic diarrhea, Failure to thrive OMIM:607271
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Lack of skin elasticity, Weigh... ORPHA:740
Perlman Syndrome
Distal ileal atresia, Volvulus, Hypoglycemia, Large for gestational age OMIM:267000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia, Death in childhood OMIM:616457
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... ORPHA:36426
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Prolonged neonatal jaundice ORPHA:199296
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Protracted diarrhea, Failure to thrive secondary to recurrent infections, Anorexia ORPHA:169160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Hypoglycemic s... ORPHA:79259
Xfe Progeroid Syndrome
Failure to thrive, Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Cutaneo... OMIM:610965
Leprechaunism
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Insulin resistance, H... ORPHA:508
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia, Feeding difficulties OMIM:613986
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Dominant Beta-Thalassemia
Diabetes mellitus, Failure to thrive in infancy, Jaundice, Diarrhea, Skin ulcer, Feeding difficul... ORPHA:231226
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Hig... OMIM:618000
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Failure to thrive, Small for gestational age, Feeding difficulties OMIM:609015
Sheehan Syndrome
Hypoglycemia, Poor appetite, Obesity, Constipation, Pallor, Dry skin, Nausea ORPHA:91355
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Premature skin wrinkling, Dry skin, Redundant skin OMIM:200110
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Feeding difficulties in infancy, Death in infancy, Hepatic failure, Hypoglycemia OMIM:619355
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hypoglycemic seizure... ORPHA:480864
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Chronic diarrhea, Rectal abscess, Poor wound healing OMIM:116920
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea, Failure to thrive OMIM:300400
Boutonneuse Fever
Diarrhea, Nausea, Petechiae, Abdominal pain ORPHA:83313
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, Progeroid facial appearance, Insulin resistance, Lack of skin elasti... ORPHA:90153
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Macroglossia, Chronic diarrhea OMIM:618523
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting, Acroc... OMIM:223900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Gastritis, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Urti... ORPHA:37042
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling ORPHA:363618
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu... OMIM:615919
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Hypoglycemia, Malabsorption, Feeding difficulti... ORPHA:565
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Chronic diarrhea, Cleft palate, Vomiting, Bifid uvula OMIM:614921
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Type I diabetes mellitus, Atrophic gastritis, Diarrhea, Malabsorption OMIM:240300
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Intestinal malrotation, Hypoglycemia, Esophageal varix, Feeding diffic... OMIM:613658
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... ORPHA:436252
Immunodeficiency 7
Diarrhea, Failure to thrive OMIM:615387
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Type II diabetes mellitus, Progeroid facial appearance, Dysphagia ORPHA:412057
Scleromyxedema
Abnormality of the gastrointestinal tract, Aged leonine appearance, Hypoperistalsis, Gastroesopha... ORPHA:167635
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Increased subcutaneous truncal adipos... ORPHA:3455
Acute Radiation Syndrome
Diarrhea, Skin ulcer, Telangiectasia, Vomiting, Scaling skin ORPHA:454831
Melas
Diabetes mellitus, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Erythema, Diarrhe... ORPHA:550
Malakoplakia
Abdominal pain, Diarrhea, Skin ulcer, Neoplasm of the rectum, Neoplasm of the colon ORPHA:556
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Death in infancy, Death in childhood, Intermittent diarrhea, Failure to th... OMIM:619644
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation, Acral ulceration OMIM:608654
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy OMIM:618805
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Failure to thrive, Vomiting, Hypoglycemia ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Decreased liver function, Feeding difficulties OMIM:618329
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia, Feeding difficulties, Vomiting, Failure to thrive ORPHA:2609
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Fabry Disease
Angiokeratoma, Abdominal pain, Diarrhea, Angiokeratoma corporis diffusum, Tenesmus, Vomiting, Nausea OMIM:301500
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Redundant skin ORPHA:1860
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Bronchial Neuroendocrine Tumor
Anorexia, Poor appetite, Bowel urgency, Weight loss, Protracted diarrhea, Facial telangiectasia, ... ORPHA:97287
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Beta-Thalassemia Major
Diabetes mellitus, Failure to thrive in infancy, Jaundice, Diarrhea, Skin ulcer, Feeding difficul... ORPHA:231214
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Hematochezia, Inflammation of the large intestine, Vasculitis in the skin, Colon... OMIM:617718
Werner Syndrome
Diabetes mellitus, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcifi... OMIM:277700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritonitis, Vomiting, Constipation, ... ORPHA:32960
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Glutaric Acidemia I
Failure to thrive, Hypoglycemia OMIM:231670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea ORPHA:572
Pediatric-Onset Graves Disease
Nausea and vomiting, Jaundice, Diarrhea, Failure to thrive, Flushing ORPHA:525731
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Ecchymosis, Bruising susceptibility, Nausea ORPHA:324636
Shashi-Pena Syndrome
Feeding difficulties in infancy, Hypoglycemia OMIM:617190
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Cachexia, Urticaria, Cutaneous photosensitivity, Dry skin ORPHA:220295
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Diarrhea OMIM:619849
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Histiocytoid Cardiomyopathy
Cyanosis, Hypoglycemia, Cleft palate, Vomiting, Pallor, Failure to thrive ORPHA:137675
Alg12-Cdg
Redundant skin, Intestinal malrotation, Feeding difficulties, Recurrent hypoglycemia, Gastroesoph... ORPHA:79324
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Failure to thrive, Weight loss OMIM:256700
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain OMIM:617099
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Chronic Graft Versus Host Disease
Poor wound healing, Anorexia, Abdominal pain, Esophageal stricture, Erythema, Xerostomia, Diarrhe... ORPHA:99921
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Protuberant abdomen, Hepatocellular carcinoma OMIM:232220
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Cyanosis, Fasting hypoglycemia, Hepatic failure ORPHA:159
Glycogen Storage Disease Ic
Stomatitis, Hypoglycemia, Spider hemangioma, Inflammation of the large intestine, Hepatocellular ... OMIM:232240
Zygomycosis
Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Abdominal pain, Hematemesis, Diarrhea,... ORPHA:73263
Leigh Syndrome
Hypoglycemia, Gastrointestinal dysmotility, Dysphagia, Feeding difficulties, Hepatic failure, Fai... ORPHA:506
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Failure to thrive, Exocrine pancre... OMIM:219700
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Immunodeficiency 97 With Autoinflammation
Diarrhea, Colitis, Enterocolitis, Abdominal pain OMIM:619802
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Redundant skin, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse,... OMIM:613177
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive OMIM:618050
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Malabsorption ORPHA:83471
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Diarrhea, Erythema, Fasting hyperinsulinemia, Episodic abdominal pain, Zollinger-El... ORPHA:276152
Wrinkly Skin Syndrome
Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, High palat... OMIM:278250
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Cleft soft palate, High, narrow... OMIM:619950
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... ORPHA:464321
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Erythema, Vomiting, Death in childhood, Episodic vomiting OMIM:618321
Kabuki Syndrome 2
Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight, Neonatal hypog... OMIM:300867
Combined Oxidative Phosphorylation Defect Type 39
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Vomiting, Neonatal hypoglyc... ORPHA:565624
Timothy Syndrome
Hypoglycemia OMIM:601005
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Feeding difficulties in infancy, Poor suck, Chronic hepatic failure... ORPHA:746
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal... OMIM:613385
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:619824
Arterial Tortuosity Syndrome
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Hiatus hernia, Pyloric s... ORPHA:3342
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Chronic diarrhea, Intestinal obstruction, Failure to thrive OMIM:600802
Holoprosencephaly
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Feeding difficulties in infancy, I... ORPHA:2162
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Relapsing Fever
Jaundice, Vomiting, Diarrhea, Abdominal pain ORPHA:91547
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy OMIM:618183
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Hypoglycemia, Feeding difficulties in infancy, Vomiting, Hepatic fail... OMIM:252010
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrotic ectodermal dysplasia, Chronic diarrhea, Dry skin, Failure to thrive, Recurrent infecti... OMIM:612132
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Rectal abscess OMIM:601495
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic diarrhea, Colitis, Stomatitis, Failure to thrive, Recurrent infection of the gastrointest... ORPHA:911
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Achalasia, Telangiectasia of the skin, Hypoglycemia OMIM:616007
X-Linked Dominant Chondrodysplasia Punctata
High palate, Scaling skin, Neonatal hypoglycemia ORPHA:35173
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesopha... ORPHA:500055
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:93552
Systemic Capillary Leak Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:188
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased mitochondrial complex III activity in liver tissue, Hypoglycemia, Feeding difficulties ... OMIM:124000
Atypical Werner Syndrome
Decreased body weight, Prominent superficial veins, Prematurely aged appearance, Telangiectasia o... ORPHA:79474
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Poor wound healing, Excessive wrinkled skin, Palmoplantar cutis laxa... OMIM:225400
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Diarrhea, Jaundice, Recurrent gastroenteritis, Chronic hepatic failure ORPHA:79124
Lujo Hemorrhagic Fever
Odynophagia, Fulminant hepatitis, Diarrhea, Vomiting, Abdominal cramps, Dysphagia, Ecchymosis, Na... ORPHA:319213
Citrullinemia Type Ii
Diarrhea, Vomiting, Decreased body mass index, Hepatocellular carcinoma ORPHA:247585
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Failure to thrive, Nonketotic hypoglycemia ORPHA:99901
Omenn Syndrome
Chronic diarrhea, Failure to thrive, Dry skin ORPHA:39041
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Episodic vomiting, Hypoglycemia OMIM:615751
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Failure to thrive ORPHA:17
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Hypoglycemia, Anorexia, Abdominal pain, Odynophagia, J... ORPHA:99826
Good Syndrome
Diarrhea, Diabetes mellitus, Dysphagia ORPHA:169105
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Angioedema, Diarrhea, Abdominal pain ORPHA:36412
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Failure to thrive, Feeding difficulties ORPHA:427
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Pituitary Apoplexy
Nausea and vomiting, Hypoglycemia, Pallor ORPHA:95613
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Jaundice, Feeding difficulties, Stomatitis, Failure to thrive, Glossitis ORPHA:79282
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Oral-pharyngeal dysphagia OMIM:616878
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Hepatic failure, Episodic abdominal pain ORPHA:228305
Reni Syndrome
Hypoglycemia OMIM:617575
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Progeroid facial appearance, Cutis laxa ORPHA:75496
Reactive Arthritis
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... ORPHA:29207
Familial Mediterranean Fever
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... OMIM:249100
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Nausea, Rectal ... ORPHA:287
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Vomiting, Nausea, Poor appetite ORPHA:542323
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Malnutrition, Cutis laxa, Truncal obesity, Vomiting, Failure to thri... OMIM:222700
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Plethora, Purpura, Diabetes mellitus, Dorsocervical fat ... ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Chronic constipation, Hypoglycemia, Obesity, Cleft palate OMIM:301066
Legionnaires Disease
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Diarrhea ORPHA:549
Immunodeficiency 22
Diarrhea, Failure to thrive, Protracted diarrhea OMIM:615758
Avian Influenza
Diarrhea, Miscarriage, Vomiting, Abdominal pain ORPHA:454836
Mucopolysaccharidosis, Type Ii
Macroglossia, Diarrhea, Intestinal pseudo-obstruction OMIM:309900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Prematurely aged appearance, Progeroid facial appearance ORPHA:90154
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
High palate, Hypoglycemia OMIM:620224
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Feeding difficulties in infancy... OMIM:616914
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Scaling skin, Dry skin OMIM:620370
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Overweight, Feeding difficulties in infancy, Macroglossia, Constipation, Prolonged ... ORPHA:226307
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Failure to t... OMIM:615895
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles OMIM:614941
Orthostatic Hypotension 1
High palate, Neonatal hypoglycemia OMIM:223360
Glutaryl-Coa Dehydrogenase Deficiency
Feeding difficulties, Fasting hypoglycemia, Dysphagia ORPHA:25
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Failure to thrive, Diarrhea ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Chronic diarrhea, Failure to thrive, Psoriasiform lesion ORPHA:169154
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Idiopathic Hypereosinophilic Syndrome
Cutis marmorata, Malabsorption, Feeding difficulties in infancy, Abdominal pain, Angioedema, Chro... ORPHA:3260
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Vomiting OMIM:275350
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Pyruvate Carboxylase Deficiency
Hypoglycemia, Anorexia, Vomiting, Hyperglycemia, Failure to thrive ORPHA:3008
Cockayne Syndrome Type 1
Diarrhea, Cutaneous photosensitivity, Failure to thrive, Progeroid facial appearance ORPHA:90321
Arterial Tortuosity Syndrome
Progeroid facial appearance, Hiatus hernia, Cutis laxa, High palate, Bruising susceptibility, Bif... OMIM:208050
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Weight loss, Hematochezia, Urticaria, Bloody diarrhea,... OMIM:615846
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormal tongue morphology, Chronic diarrhea, Anoperineal fistula, Scaling skin, Failure to thriv... ORPHA:158668
Rat-Bite Fever
Diarrhea, Weight loss, Vomiting, Scaling skin, Parotitis ORPHA:31205
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... ORPHA:653
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Mevalonic Aciduria
Diarrhea, Failure to thrive, Failure to thrive in infancy, Vomiting OMIM:610377
Riddle Syndrome
Conjunctival telangiectasia, Abdominal pain, Diarrhea, Erythema, Telangiectasia, Weight loss, Sca... ORPHA:420741
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Small for gestational age, Hypoglycemia, Feeding difficulties, Anteriorly place... OMIM:220111
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Neonatal hypoglycemia, Dysphagia ORPHA:572798
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Diarrhea, Erythema, Functional abnormality of the gastrointestinal tra... ORPHA:221016
Bacterial Toxic-Shock Syndrome
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Scaling skin, Ecchymosis, Nausea ORPHA:36234
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Failure to thrive, Feeding difficulties, Dysphagia OMIM:620358
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Vomiting, Glycosuria, Failure to thrive ORPHA:47159
Acute Liver Failure
Gastrointestinal hemorrhage, Hypoglycemia, Jaundice, Diarrhea, Vomiting, Bruising susceptibility,... ORPHA:90062
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Feeding difficulties ORPHA:445038
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Telang... ORPHA:221008
Beckwith-Wiedemann Syndrome
Hypoglycemia, Redundant skin, Large for gestational age, Feeding difficulties in infancy, Obesity... ORPHA:116
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Prematurely aged appearance, Prog... OMIM:133540
3-Methylglutaconic Aciduria, Type Viib
Feeding difficulties, Neonatal hypoglycemia, Tube feeding OMIM:616271
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure to thrive OMIM:620233
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Vomiting, Neonatal hypoglycemia ORPHA:90791
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Immunodeficiency 92
Chronic diarrhea, Esophagitis OMIM:619652
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Progeroid facial appearance OMIM:617763
Sandhoff Disease
Macroglossia, Chronic diarrhea, Episodic abdominal pain, Death in childhood OMIM:268800
Glycerol Kinase Deficiency
Episodic vomiting, Small for gestational age, Hypoglycemia OMIM:307030
Cockayne Syndrome Type 2
Feeding difficulties in infancy, Progeroid facial appearance ORPHA:90322
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Costello Syndrome
Redundant neck skin, Hypoglycemia, Pyloric stenosis, Macroglossia, High palate, Failure to thrive... OMIM:218040
Sapho Syndrome
Abdominal pain, Malabsorption, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea ORPHA:793
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Plague
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Skin ulcer, Bloody diarrhea, Infl... ORPHA:707
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Diarrhea, Melena, Vomiting, Decreased body weight, Ecchymosis, Nause... ORPHA:340
Wiskott-Aldrich Syndrome
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... OMIM:301000
Oculodentodigital Dysplasia
Hypoglycemia, Cleft palate ORPHA:2710
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Diarrhea, Failure to thrive OMIM:308230
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Death in childhood, Chronic constipation, High palate, Decreased body weight OMIM:619005
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Diabetes mellitus, Progeroid facial appearance, Insulin resi... ORPHA:280365
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen... ORPHA:652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Pallor, Protracted diarrhea ORPHA:331206
Dubowitz Syndrome
Anal stenosis, Cutis marmorata, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chro... ORPHA:235
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Cutaneous photosensit... ORPHA:647
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hypoketotic hypoglycemia, Hepatic failure, Feeding difficulties ORPHA:228308
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:224900
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre... OMIM:618268
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting ORPHA:3240
Seckel Syndrome
Prematurely aged appearance, Cachexia ORPHA:808
Omenn Syndrome
Diarrhea, Failure to thrive OMIM:603554
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Failure to thrive, Prematurely aged appearance OMIM:601812
Trichothiodystrophy
High, narrow palate, Cutaneous photosensitivity, Dry skin, Prematurely aged appearance ORPHA:33364
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the ga... OMIM:251260
Gapo Syndrome
Prematurely aged appearance ORPHA:2067
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... ORPHA:2834
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Progeroid facial appea... ORPHA:79086
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin ORPHA:500
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea, Failure to thrive OMIM:242700
Immunodeficiency, Common Variable, 14
Chronic diarrhea OMIM:617765
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Leukocyte Adhesion Deficiency Type Ii
Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen... ORPHA:99843
Gitelman Syndrome
Nausea and vomiting, Maternal diabetes, Abdominal pain, Diarrhea, Insulin resistance, Glucose int... ORPHA:358
Mucopolysaccharidosis, Type Iiid
Macroglossia, Diarrhea, Tube feeding, Dysphagia OMIM:252940
Immunodeficiency 47
Death in infancy, Chronic diarrhea, Cutis laxa, Prolonged neonatal jaundice, Failure to thrive, E... OMIM:300972
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Neonatal hypoglycemia, Feeding difficulties OMIM:261740
Wiskott-Aldrich Syndrome
Hematemesis, Chronic diarrhea, Skin ulcer, Hematochezia, Urticaria, Inflammation of the large int... ORPHA:906
Pearson Syndrome
Diabetes mellitus, Small for gestational age, Exocrine pancreatic insufficiency, Hepatic failure,... ORPHA:699
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Proteasome-Associated Autoinflammatory Syndrome 1
Impaired glucose tolerance, Progeroid facial appearance, Erythema, Death in adolescence, Prematur... OMIM:256040
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding ORPHA:221139
Biotinidase Deficiency
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:253260
Liver Disease, Severe Congenital
Chronic gastritis, Abdominal distention, Jaundice, Malnutrition, Dependency on parenteral nutriti... OMIM:619991
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Jaundice, Diarrhea ORPHA:247598
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Hepatic failure, Episodic abdominal pain ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Purpura OMIM:235400
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Failure to thrive, Prematurely aged appearance, Progeroid fa... OMIM:216400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Failure to thrive in infancy... ORPHA:35078
Immunodeficiency 55
Diarrhea, Dry skin OMIM:617827
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Palmoplantar erythema, Glossitis ORPHA:2331
Microsporidiosis
Anorexia, Cachexia, Abdominal pain, Peritonitis, Chronic diarrhea, Weight loss, Vomiting, Intermi... ORPHA:2552
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Intestinal malrotation, Neonatal insulin-dependent diabetes mellitus, ... ORPHA:2255
Rothmund-Thomson Syndrome
Telangiectasia of the skin, Small for gestational age, Nasogastric tube feeding in infancy, Diarr... ORPHA:2909
Abetalipoproteinemia
Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:14
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Dry skin, Redundant skin ORPHA:920
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Immunodeficiency 25
Protracted diarrhea OMIM:610163
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Diarrhea OMIM:213700
Steinert Myotonic Dystrophy
Diabetes mellitus, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the t... ORPHA:273
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia ORPHA:66634
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoglycemia, High, narrow palate, Cleft palate, Macroglossia, Hepatoblastoma ORPHA:373
Cocaine Intoxication
Abdominal pain, Intestinal perforation, Bloody diarrhea, Gastrointestinal infarctions, Colitis, V... ORPHA:90068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic diarrhea, Diarrhea, Failure to thrive OMIM:102700
Williams Syndrome
Colonic diverticula, Death in early adulthood, Nausea and vomiting, Failure to thrive in infancy,... ORPHA:904
Neurooculorenal Syndrome
Anteriorly placed anus, Recurrent hypoglycemia, Intestinal malrotation OMIM:620305
Keppen-Lubinsky Syndrome
Failure to thrive, High palate, Lack of facial subcutaneous fat, Progeroid facial appearance OMIM:614098
Hyper-Igd Syndrome
Diarrhea, Chronic diarrhea, Vomiting, Abdominal pain OMIM:260920
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Listeriosis
Miscarriage, Abdominal pain, Jaundice, Diarrhea, Peritonitis, Vomiting, Nausea ORPHA:533
Diamond-Blackfan Anemia 21
Chronic diarrhea, Cutis marmorata, Obesity OMIM:620072
Scorpion Envenomation
Abdominal pain, Diarrhea, Erythema, Vomiting, Glycosuria, Hyperglycemia, Purpura ORPHA:466677
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Vomiting, Neonatal hypoglycemia, Feeding difficulties ORPHA:168558
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Feeding difficulties, Death in childhood OMIM:618278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Vomiting, Neonatal hypoglycemia, Feeding difficulties ORPHA:289548
Nestor-Guillermo Progeria Syndrome
Dry skin, Prominent superficial veins, Failure to thrive, Progeroid facial appearance OMIM:614008
Farber Disease
Chronic diarrhea, Hepatic failure, Failure to thrive, Feeding difficulties ORPHA:333
Japanese Encephalitis
Diarrhea, Vomiting, Anorexia, Abdominal pain ORPHA:79139
Lenz-Majewski Hyperostotic Dwarfism
Prematurely aged appearance, Redundant skin, High, narrow palate, Submucous cleft hard palate, Cl... ORPHA:2658
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... ORPHA:95455
Lysinuric Protein Intolerance
Diarrhea, Hepatic failure, Feeding difficulties, Vomiting, Steatorrhea, Failure to thrive ORPHA:470
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Chronic diarrhea, Glucose intolerance, Failure to... OMIM:208900
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Furrowed tongue OMIM:158310
Kid Syndrome
Scaling skin, Failure to thrive, Neoplasm of the tongue, Progeroid facial appearance ORPHA:477
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
High palate, Slender build, Neonatal hypoglycemia, Large for gestational age ORPHA:457359
Chikungunya
Diarrhea, Erythema, Vomiting, Skin vesicle, Cutaneous photosensitivity, Petechiae ORPHA:324625
Colchicine Poisoning
Diarrhea, Vomiting, Nausea ORPHA:31824
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Jaundice, Diarrhea, Melena, Spontaneo... ORPHA:99827
Hurler Syndrome
Macroglossia, Death in infancy, Chronic diarrhea, Feeding difficulties ORPHA:93473
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea OMIM:614441
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Chronic diarrhea, Failure to thrive OMIM:602450
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Progeroid facial appearance OMIM:610651
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Prematurely aged appearance, Prolonged neonatal jaundice ORPHA:909
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Weight loss ORPHA:3337
Occipital Horn Syndrome
Redundant skin, Hiatus hernia, Chronic diarrhea, High palate, Bruising susceptibility OMIM:304150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Constipation, Dry skin, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Failure to thrive ORPHA:293978
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Chronic diarrhea, Episodic vomiting, Obesity, Feeding difficulties, Truncal ... OMIM:615873
Zttk Syndrome
Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhea, Feeding difficult... OMIM:617140
Dubowitz Syndrome
Feeding difficulties in infancy, Velopharyngeal insufficiency, Submucous cleft hard palate, Chron... OMIM:223370
Mucopolysaccharidosis Type 3
Malabsorption, Macroglossia, Constipation, Protuberant abdomen, Dysphagia, Intermittent diarrhea ORPHA:581
Vascular Ehlers-Danlos Syndrome
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, High, narrow palate, Exc... ORPHA:286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Feeding difficulties, Weight loss, Vomiting, Failure to thrive, Neonatal hypoglycemia ORPHA:90794
Selective Igm Deficiency
Stomach cancer, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease ORPHA:331235
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive OMIM:601678
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe... OMIM:619472
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, High palate, Progeroid facial appearance, Death in childhood OMIM:619127
Yellow Fever
Abdominal pain, Hematemesis, Jaundice, Diarrhea, Vomiting, Nausea ORPHA:99829
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive OMIM:241200
Immunodeficiency 36 With Lymphoproliferation
Chronic diarrhea OMIM:616005
Non-Acquired Panhypopituitarism
Constipation, Hypoglycemia ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Constipation, Hypoglycemia, Median cleft lip and palate ORPHA:95494
Branchioskeletogenital Syndrome
Submucous cleft hard palate, Anteriorly placed anus, Periorbital wrinkles, Unilateral cleft palat... ORPHA:1299
Cholestasis, Progressive Familial Intrahepatic, 10
Acholic stools, Failure to thrive, Jaundice OMIM:619868
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea OMIM:307200
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Anteriorly placed anus, Small for gestational age, Hypoglycemia OMIM:201750
Agammaglobulinemia, X-Linked
Chronic diarrhea, Hepatocellular carcinoma OMIM:300755
African Trypanosomiasis
Miscarriage, Jaundice, Diarrhea, Weight loss, Vomiting, Nausea ORPHA:3385
Holoprosencephaly 1
Hypoglycemia, Median cleft lip and palate OMIM:236100
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Macroglossia, Neonatal hypoglycemia OMIM:130650
Sotos Syndrome
Aganglionic megacolon, Feeding difficulties, Gastroesophageal reflux, Constipation, Prolonged neo... ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dy... ORPHA:500150
Leptospirosis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Diarrhea ORPHA:509
Aspartylglucosaminuria
Macroglossia, Diarrhea, Angiokeratoma corporis diffusum OMIM:208400
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Chronic diarrhea ORPHA:217085
Mucopolysaccharidosis Type 2
Macroglossia, Chronic diarrhea ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Chronic diarrhea ORPHA:217093
Nmda Receptor Encephalitis
Diarrhea, Vomiting ORPHA:217253

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myo5b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myo5b.

There are 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Modeling of a Novel Patient-Based MYO5B Point Mutation Reveals Insights Into MVID Pathogenesis. Cellular and molecular gastroenterology and hepatology (December 2022) Myo5btm1c(KOMP)Wtsi 36592862
Myosin Vb as a tumor suppressor gene in intestinal cancer. Oncogene (November 2022) Myo5btm1c(KOMP)Wtsi 36316444
Myosin 5b is required for proper localization of the intermicrovillar adhesion complex in the intestinal brush border. American journal of physiology. Gastrointestinal and liver physiology (October 2022) Myo5btm1c(KOMP)Wtsi PMC9639760
Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance. JCI insight (August 2021) Myo5btm1c(KOMP)Wtsi Myo5btm1a(KOMP)Wtsi PMC8409988
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Myo5bem1(IMPC)Wtsi PMC7263671
Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation. PLoS biology (November 2019) Myo5btm1a(KOMP)Wtsi PMC6855566
Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects. Molecular biology of the cell (October 2019) Myo5btm1a(KOMP)Wtsi PMC6938243
Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes. Gastroenterology (August 2018) Myo5btm1c(KOMP)Wtsi PMC6279525
Loss of MYO5B in mice recapitulates Microvillus Inclusion Disease and reveals an apical trafficking pathway distinct to neonatal duodenum. Cellular and molecular gastroenterology and hepatology (February 2016) Myo5btm1a(KOMP)Wtsi PMC4806369
Myo5b knockout mice as a model of microvillus inclusion disease. Scientific reports (July 2015) Myo5btm1a(KOMP)Wtsi PMC4511872

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Myo5btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myo5btm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myo5bem1(IMPC)Wtsi Deletion Mice
Myo5btm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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