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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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
Flatulence, Abdominal pain, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lact... OMIM:223100
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Diarrhea 2, With Microvillus Atrophy
Malnutrition, Villous atrophy, Death in infancy, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Small for gestational age, Failure to thrive OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Feeding difficulties in infancy, Hypoglycemia, Diarrhea, Failure to thrive, Vom... OMIM:606528
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema, Colitis, Diarrhea OMIM:219095
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy, Diarrhea, Failure to thrive, Vomiting OMIM:615863
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Short Stature Due To Ghsr Deficiency
Abdominal pain, Abnormality of body weight, Decreased body weight, Hypoglycemia, Vomiting ORPHA:314811
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption, Reactive hypoglycemia, Obesity OMIM:600955
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Duodenitis, Villous atrophy, Failure to thrive, Perianal erythema, Bloody diar... OMIM:614328
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Steatorrhea OMIM:613291
Immunodeficiency 31C
Villous atrophy, Diabetes mellitus, Diarrhea, Abnormal intestine morphology OMIM:614162
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Diarrhea, Hepatic fai... OMIM:602579
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglionic megacolon,... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Premature skin wrinkling, Redundant skin, Cutis laxa, Bowel divertic... ORPHA:90348
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Failure ... OMIM:606824
Mpi-Cdg
Hepatic failure, Malabsorption, Hypoglycemia ORPHA:79319
Immunodeficiency 19
Diarrhea, Failure to thrive OMIM:615617
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Abnormal intestine morphology, Diarrhea, Failure to thrive OMIM:618495
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Weight loss, Failure to thrive in infancy, F... ORPHA:388
Angioedema, Hereditary, 8
Angioedema, Episodic vomiting, Diarrhea, Abdominal pain OMIM:619367
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Vascular Hyalinosis
Premature graying of hair, Hematochezia, Protein-losing enteropathy, Diarrhea, Malabsorption OMIM:277175
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis... OMIM:266600
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Congenital Tufting Enteropathy
Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Weig... ORPHA:92050
Autoinflammation With Infantile Enterocolitis
Urticaria, Villous atrophy, Episodic vomiting, Failure to thrive, Feeding difficulties in infancy... OMIM:616050
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Diarrhea, Small for gestational age, Failure to thrive OMIM:614602
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Diarrhea, Abdominal distention ORPHA:2290
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Gastrojejunal tube feeding in infancy, Small for gestational age, Cleft palate, Fee... ORPHA:231147
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Failure to ... ORPHA:1201
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Enteric Anendocrinosis
Vomiting, Malabsorption, Type I diabetes mellitus, Diarrhea ORPHA:83620
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Diarrhea, Abdominal distention ORPHA:103910
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia, Decreased body weight, Small for gestational age, High palat... ORPHA:231140
Chylomicron Retention Disease
Malnutrition, Steatorrhea, Diarrhea, Failure to thrive, Vomiting OMIM:246700
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Intestinal perforation, Malnutrition, Abdominal pain, Constipation, Weight loss, C... OMIM:603041
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Diarrhea, Erythema OMIM:609313
Riboflavin Deficiency
Poor suck, Hypoglycemia OMIM:615026
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Hypoglycemia, Jaundice, Hepatic failure, Failure to thrive OMIM:617156
Netherton Syndrome
Villous atrophy, Failure to thrive, Abnormal intestine morphology, Angioedema, Urticaria, Intesti... OMIM:256500
Reticular Dysgenesis
Weight loss, Diarrhea, Failure to thrive, Malabsorption, Skin ulcer ORPHA:33355
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:610090
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Immunodeficiency 48
Diarrhea, Failure to thrive OMIM:269840
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Death in childhood, Diarrhea, Failure to thrive,... OMIM:601847
Ornithine Transcarbamylase Deficiency
Hepatic failure, Pyloric stenosis, Hypoglycemia ORPHA:664
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Secretory diarrhea OMIM:600351
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Vomiting, Diarrhea OMIM:605911
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Diarrhea, Abn... ORPHA:263665
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Refractory Celiac Disease
Malnutrition, Jejunitis, Abdominal pain, Villous atrophy, Chronic diarrhea, Weight loss, Protein-... ORPHA:398063
Brunner Syndrome
Diarrhea, Flushing OMIM:300615
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Fat malabsorption, Diarrhea, Failure to thrive OMIM:211600
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Vomiting, Diarrhea, Failure to thrive, Bifid uvula, High palate OMIM:601110
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy, Failure to thrive OMIM:610768
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Microphthalmia, Syndromic 8
Premature skin wrinkling, Cleft palate OMIM:601349
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Eosinophilic Gastroenteritis
Hematochezia, Abdominal pain, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, ... ORPHA:2070
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Feeding difficulties, Hypoglycemia OMIM:616111
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia OMIM:617872
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Feeding difficulties, Hypoketotic hypoglyce... ORPHA:276556
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Feeding difficulties, Hypoglycemia OMIM:614702
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Combined Malonic And Methylmalonic Aciduria
Vomiting, Diarrhea, Failure to thrive OMIM:614265
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Protracted diarrhea, Failure to thrive, Malabsorption OMIM:209920
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Failure to thrive, Mucoid diarrhea OMIM:615767
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Combined Malonic And Methylmalonic Acidemia
Nasogastric tube feeding, Hypoglycemia, Failure to thrive, Vomiting, Intermittent diarrhea ORPHA:289504
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fee... ORPHA:276575
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Duodenal... OMIM:174900
Coproporphyria, Hereditary
Abdominal pain, Constipation, Jaundice, Diarrhea, Vomiting, Cutaneous photosensitivity OMIM:121300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Chronic diarrhea, Type I diabetes mellitus, Failure to thrive, Ileus OMIM:304790
Cholesteryl Ester Storage Disease
Esophageal varix, Jaundice, Diarrhea, Hepatic failure, Nausea and vomiting ORPHA:75234
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Progeroid facial appearance, Small for gestational age, Failure to thrive ORPHA:50811
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ... OMIM:175500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Cachexia, Cutaneous photosensitivity, Malabsorption, Duodenal ulcer ORPHA:3217
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis, Chronic diarrhea, Hypoglycemia OMIM:616355
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Short Syndrome
Glucose intolerance, Premature skin wrinkling, Insulin-resistant diabetes mellitus, Small for ges... OMIM:269880
Cronkhite-Canada Syndrome
Abdominal pain, Gastrointestinal carcinoma, Anorexia, Furrowed tongue, Stomach cancer, Intestinal... ORPHA:2930
Cryptosporidiosis
Gastrointestinal obstruction, Abdominal pain, Dysphagia, Abdominal colic, Nausea, Abnormal esopha... ORPHA:1549
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
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hypoglycemia, Reye syndrome-like episodes, Prolonged neonatal jaundice, Di... OMIM:256810
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Diarrhea, Hype... OMIM:615710
Temple Syndrome
Nasogastric tube feeding, Feeding difficulties, Feeding difficulties in infancy, Small for gestat... ORPHA:254516
Lujo Hemorrhagic Fever
Nausea and vomiting, Acute hepatic failure, Diarrhea, Gastrointestinal hemorrhage ORPHA:319213
Anal Sphincter Dysplasia
Encopresis, Constipation, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Decreased liver function, Hypoglycemia ORPHA:67048
Mehmo Syndrome
Obesity, Small for gestational age, Hypoglycemia, Cleft palate OMIM:300148
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Diarrhea, Hepatic failure, Failure to thrive OMIM:235555
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Abdominal pain, Dysphagia, Abnormality of the gastrointestinal trac... ORPHA:298
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Feeding difficulties, Premature skin wrinkling OMIM:616603
Cog8-Cdg
Failure to thrive, Spontaneous hematomas, Hypoglycemia, Protein-losing enteropathy ORPHA:95428
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia, Aged leonine appearance OMIM:227260
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Abnormality of the gastrointestinal tract, Postprandial hyperglycemia, Glyc... ORPHA:2089
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Diarrhea, Colitis OMIM:613960
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Malabsorption, Diarrhea, Failure to thrive OMIM:229050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Diarrhea OMIM:608971
Shigellosis
Acute colitis, Paralytic ileus, Peritonitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Transaldolase Deficiency
Telangiectasia, Premature skin wrinkling ORPHA:101028
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Decreased liver function, Episodic vomiting, Small for gestational age, Poor suck OMIM:615160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea, Scaling skin, Failure to thrive in infancy, Type I diabetes me... OMIM:606367
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Failure to thrive, Hypoglycemia OMIM:618958
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Psoriasiform lesion, Villous atrophy, Chronic diarrhea, Chro... OMIM:614700
Pancreatic Colipase Deficiency
Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Failure to thrive, Abdominal distention, Hypoglycemia ORPHA:369
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Erythema, Diarrhea, Vomiting, Angioedema OMIM:106100
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles OMIM:227210
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Constipation, Hypoglycemia, Chronic constipation, Diarrhea, Vomiting OMIM:248360
Familial Pancreatic Carcinoma
Functional intestinal obstruction, Exocrine pancreatic insufficiency, Abdominal pain, Neoplasm of... ORPHA:1333
Propionic Acidemia
Constipation, Hypoglycemia ORPHA:35
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Feeding difficulties ORPHA:26792
Acrogeria
Prematurely aged appearance, Excessive wrinkled skin, Skin ulcer, Telangiectasia of the skin ORPHA:2500
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Failure to thrive, Vomiting, Fat malabsorption, Abdominal distention ORPHA:71
Shashi-Pena Syndrome
Feeding difficulties in infancy, Hypoglycemia OMIM:617190
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Cutis laxa, Intestinal malrotation, Rectovaginal fistula, Anal atresia, Abdominal distention, Sec... OMIM:270420
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Jaundice, Failure to thrive, Hypoglycemia OMIM:617049
Immunodeficiency 76
Chronic diarrhea, Death in childhood, Colitis OMIM:619164
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Diarrhea, Failure to thrive OMIM:616069
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Perianal abscess, Diarrhea, Gastritis, Failure to thrive OMIM:618108
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Gastrointestinal hemorrhage, Abdominal pain, Purpura, Urticaria, Eryth... ORPHA:343
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Jaundice, Diarrhea, Hepatic failure, Failure to thrive, Fat malabsorption OMIM:607765
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Hepatocellular carcinoma, Chronic diarrhea, Weight loss, Anorexia, Jaundice, Naus... ORPHA:65682
Hereditary Central Diabetes Insipidus
Vomiting, Diarrhea, Weight loss ORPHA:30925
Isolated Agammaglobulinemia
Malabsorption, Diarrhea, Skin ulcer, Failure to thrive ORPHA:229717
Dracunculiasis
Nausea and vomiting, Diarrhea, Skin ulcer ORPHA:231
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia, Prematurely aged appearance, Premature graying of hair, Dry skin ORPHA:2617
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Decreased liver function, Diarrhea, Failure to thrive, Vomiting, Abdo... OMIM:608104
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Jaundice, Diarrhea, Hepatic failure, Failure to thrive OMIM:613812
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Feeding difficulties, Death in infancy, Hypoglycemia, Neonatal death, Death in childhood, Failure... OMIM:245400
Radiation Proctitis
Tenesmus, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestin... ORPHA:70475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:619048
Fg Syndrome Type 1
Slender build, Facial wrinkling, Constipation, Gastroesophageal reflux, Malrotation of colon, Ana... ORPHA:93932
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Feeding difficulties, Hypoglycemia OMIM:246900
Visceral Myopathy 1
Megaduodenum, Malnutrition, Abdominal pain, Dysphagia, Constipation, Aganglionic megacolon, Intes... OMIM:155310
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Tenesmus, Bowel urgency, Hematochezia, Abdominal pain, Constipation, Hypoac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Tenesmus, Bowel urgency, Hematochezia, Abdominal pain, Constipation, Hypoac... ORPHA:100082
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Hypoadrenocorticism, Familial
Vomiting, Feeding difficulties in infancy, Cyanosis, Hypoglycemia OMIM:240200
Ataxia-Telangiectasia
Prematurely aged appearance, Premature graying of hair, Telangiectasia of the skin, Mucosal telan... ORPHA:100
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Hypoglycemia, Failure to thrive, Vomiting, Recurrent hypoglycemia OMIM:212140
Specific Granule Deficiency 2
Diarrhea, Failure to thrive OMIM:617475
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption, Abdominal pain ORPHA:100025
Rift Valley Fever
Gastrointestinal hemorrhage, Purpura, Weight loss, Anorexia, Jaundice, Diarrhea, Hepatic failure,... ORPHA:319251
Intestinal Botulism
Dysphagia, Death in infancy, Xerostomia, Diarrhea, Nausea and vomiting ORPHA:178481
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Hypoglycemia OMIM:618253
Late-Onset Isolated Acth Deficiency
Abdominal pain, Constipation, Hypoglycemia, Anorexia, Weight loss, Type I diabetes mellitus, Diar... ORPHA:199299
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Feeding difficulties in infancy, Gastrostomy tube feeding in infancy, Small for gestational age, ... ORPHA:231137
Glycerol Kinase Deficiency
Episodic vomiting, Small for gestational age, Hypoglycemia OMIM:307030
Immunodeficiency 15B
Chronic diarrhea, Failure to thrive OMIM:615592
Hereditary Folate Malabsorption
Glossitis, Gastroesophageal reflux, Anorexia, Diarrhea, Failure to thrive, Nausea and vomiting, P... ORPHA:90045
Marburg Hemorrhagic Fever
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Jaundice, Diarrhea, Nausea and vomiting ORPHA:99826
Immunodeficiency 55
Diarrhea, Dry skin OMIM:617827
Mental Retardation, Autosomal Dominant 57
High palate, Constipation, Diarrhea, Feeding difficulties OMIM:618050
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Pyruvate Dehydrogenase E3 Deficiency
Feeding difficulties, Hypoglycemia, Failure to thrive, Hepatic failure, Vomiting ORPHA:2394
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Congenital shortened small intestine, Vomi... OMIM:300048
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Decreased liver function, Feeding difficulties, Hypoglycemia OMIM:618329
Acrodermatitis Enteropathica
Glossitis, Generalized abnormality of skin, Chronic diarrhea, Weight loss, Anorexia, Furrowed ton... ORPHA:37
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Anorexia OMIM:619386
Central Diabetes Insipidus
Weight loss, Anorexia, Diarrhea, Failure to thrive, Nausea and vomiting ORPHA:178029
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Bowel urgency, Abdominal pain, Hypoactive bowel sounds, Weight loss, Anorex... ORPHA:100080
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Zollinger-Ellison syndrome, Fasting hyperinsulin... ORPHA:97279
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Constipation, Diarrhea OMIM:615548
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Diarrhea, Pallor, Anorexia ORPHA:49827
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Weight loss, Recurrent hypogl... ORPHA:2126
Laron Syndrome
Truncal obesity, Prematurely aged appearance, Hypoglycemia ORPHA:633
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Malabsorption, Diarrhea OMIM:602347
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Abdominal cramps, Abdominal pain, Flushing, Weight loss, Anorexia, D... ORPHA:98850
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Death in infancy, Esophageal atresia, Congenital pyloric atresia, Fragile skin, Intractable diarrhea OMIM:226730
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Prematurely aged appearance, Progeroid facial appearance OMIM:123700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Diarrhea, Failure to thrive OMIM:601457
Adiposis Dolorosa
Constipation, Telangiectasia of the skin, Xerostomia, Dry skin, Diarrhea, Bruising susceptibility... ORPHA:36397
Hemochromatosis, Neonatal
Hepatic failure, Prolonged neonatal jaundice, Hypoglycemia OMIM:231100
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Villous atrophy, Jaundice, Small for gestational age, Hepatic failure ORPHA:567983
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Agammaglobulinemia 1, Autosomal Recessive
Crohn's disease, Diarrhea, Failure to thrive OMIM:601495
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Attrv30M Amyloidosis
Constipation, Diarrhea, Weight loss ORPHA:85447
Neuroendocrine Tumor Of Stomach
Lack of bowel sounds, Poor appetite, Zollinger-Ellison syndrome, Hematemesis, Bowel urgency, Derm... ORPHA:100075
Rapadilino Syndrome
High palate, High, narrow palate, Diarrhea, Cleft palate OMIM:266280
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea, Death in childhood OMIM:266250
Bile Acid Synthesis Defect, Congenital, 4
Prolonged neonatal jaundice, Fat malabsorption, Failure to thrive, Hepatic failure OMIM:214950
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Feeding difficulties, Death in adolescence, Death in infancy, Hypoglycemia... OMIM:619055
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Diarrhea, Failure to thrive ORPHA:51188
Infantile Liver Failure Syndrome 2
Vomiting, Jaundice, Acute hepatic failure, Hypoglycemia OMIM:616483
Cog5-Cdg
High palate, Gastrostomy tube feeding in infancy, Premature skin wrinkling ORPHA:263487
Opitz-Kaveggia Syndrome
Narrow palate, Facial wrinkling, Anal stenosis, Constipation, Pyloric stenosis, Intestinal malrot... OMIM:305450
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Prematurely aged appearance, Anal atresia ORPHA:1807
Syndromic Diarrhea
Villous atrophy, Colitis, Dry skin, Small for gestational age, Gastritis, Intractable diarrhea, D... ORPHA:84064
Ppoma
Lack of bowel sounds, Poor appetite, Intestinal carcinoid, Subcutaneous lipoma, Gastrointestinal ... ORPHA:97278
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Pancreatic And Cerebellar Agenesis
Death in infancy, Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglyc... OMIM:609069
Somatostatinoma
Lack of bowel sounds, Poor appetite, Subcutaneous lipoma, Gastrointestinal hemorrhage, Constipati... ORPHA:97283
Lysosomal Acid Lipase Deficiency
Protuberant abdomen, Acute hepatic failure, Death in infancy, Esophageal varix, Steatorrhea, Diar... OMIM:278000
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, High palate, Feeding difficulties in infancy, Prematurely aged appearance ORPHA:1387
Trichohepatoenteric Syndrome 1
Villous atrophy, Jaundice, Diarrhea, Small for gestational age, Hepatic failure, Failure to thriv... OMIM:222470
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Abdominal pain, Weight loss, Protracted diarrhea, Diarrhea, Intestinal obstruction... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Death in infancy, Neonatal hypoglycemia, Failure to thrive OMIM:619046
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:210200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure, Cyanosis OMIM:261680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Diarrhea, Cachexia, Vomiting ORPHA:42
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Pallor ORPHA:29822
Glucagonoma
Lack of bowel sounds, Poor appetite, Subcutaneous lipoma, Glossitis, Gastrointestinal hemorrhage,... ORPHA:97280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hepatocellular adenoma, Nausea, Hypoglycemia, Esophageal varix, Diarrhea, I... ORPHA:264580
Glutaric Aciduria Iii
Vomiting, Diarrhea, Failure to thrive OMIM:231690
Galactokinase Deficiency
Hyperinsulinemia, Feeding difficulties, Hypoglycemia, Small for gestational age, Failure to thrive ORPHA:79237
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Feeding difficulties, Hypoglycemia ORPHA:5
American Trypanosomiasis
Abdominal pain, Aganglionic megacolon, Achalasia, Diarrhea, Pallor, Abnormal large intestine phys... ORPHA:3386
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Feeding difficulties, Hypoglycemia ORPHA:79096
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Feeding difficulties, Hypoglycemia OMIM:614739
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Subcutaneous lipoma, Gastrointestinal hemorrhage, H... ORPHA:79076
Bachmann-Bupp Syndrome
Hypoglycemia, High palate, Feeding difficulties in infancy, Large for gestational age, Dry skin OMIM:619075
Acquired Partial Lipodystrophy
Progeroid facial appearance, Insulin resistance ORPHA:79087
Crimean-Congo Hemorrhagic Fever
Gastrointestinal hemorrhage, Abdominal pain, Jaundice, Petechiae, Diarrhea, Nausea and vomiting ORPHA:99827
Mirage Syndrome
Chronic diarrhea, Gastroesophageal reflux, Achalasia, Hypoglycemia, Esophageal stricture, Decreas... OMIM:617053
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Protruding tongue, Diarrhea, Failure to thrive, Malabsorption OMIM:242860
Glucose-Galactose Malabsorption
Malnutrition, Weight loss, Hyperactive bowel sounds, Diarrhea, Failure to thrive, Vomiting, Abdom... ORPHA:35710
Porphyria
Abdominal pain, Constipation, Anorexia, Diarrhea, Nausea and vomiting, Cutaneous photosensitivity ORPHA:738
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Abdominal pain, Dysphagia, Nausea, Diarrhea, V... ORPHA:100050
Pyridoxine-Dependent Epilepsy
Feeding difficulties, Hypoglycemia ORPHA:3006
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Vomiting, Death in childhood, Hypoglycemia, Pallor OMIM:246450
Xfe Progeroid Syndrome
Prematurely aged appearance, Cachexia, Dry skin OMIM:610965
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hypoglycemia, Reye syndrome-like episodes, Diarrhea,... ORPHA:348
Fontaine Progeroid Syndrome
Prematurely aged appearance, Dermal translucency, Feeding difficulties, Premature skin wrinkling,... OMIM:612289
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Diarrhea, Vomiting, Abnormal intestine morphology, Malabsorption, Intestinal obst... OMIM:226300
Zollinger-Ellison Syndrome
Esophagitis, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Hematochezia, Nausea, Weigh... ORPHA:913
Classic Galactosemia
Feeding difficulties, Hypoglycemia, Jaundice, Diarrhea, Hepatic failure, Vomiting ORPHA:79239
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Diarrhea, Nausea and vomiting ORPHA:319218
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Porphyria, Acute Intermittent
Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Constipation, Nausea, Diarrhea, Vomiting OMIM:176000
Aa Amyloidosis
Malnutrition, Abdominal pain, Chronic diarrhea, Nausea, Vomiting, Malabsorption ORPHA:85445
Chromosome 19P13.13 Deletion Syndrome
Feeding difficulties, Abdominal pain, Constipation, Diarrhea, Vomiting OMIM:613638
Autosomal Agammaglobulinemia
High palate, Malabsorption, Diarrhea, Failure to thrive ORPHA:33110
Multiple Endocrine Neoplasia, Type Iib
Constipation, Aganglionic megacolon, Flushing, Failure to thrive in infancy, Diarrhea, Colonic di... OMIM:162300
Immunodeficiency 69
Diarrhea, Failure to thrive OMIM:618963
Dengue Fever
Gastrointestinal hemorrhage, Abdominal pain, Petechiae, Diarrhea, Nausea and vomiting, Bruising s... ORPHA:99828
Congenital Toxoplasmosis
Jaundice, Diarrhea, Failure to thrive in infancy ORPHA:858
Satoyoshi Syndrome
Malabsorption, Diarrhea OMIM:600705
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Weight loss, Diarrhea, Vomiting, Hyperglycemia, Pallor ORPHA:134
Short Syndrome
Insulin resistance, Weight loss, Diabetes mellitus, Excessive wrinkled skin, Poor appetite ORPHA:3163
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Abno... ORPHA:100078
Jejunal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Abno... ORPHA:100077
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Impaired glucose tole... ORPHA:2088
Necrotizing Enterocolitis
Peritonitis, Diarrhea, Small for gestational age, Vomiting, Hyperglycemia, Abdominal distention, ... ORPHA:391673
Sepsis In Premature Infants
Purpura, Decreased body weight, Jaundice, Functional abnormality of the gastrointestinal tract, D... ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Decreased liver function, Death in infancy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased liver function, Death in infancy, Hypoglycemia OMIM:618839
Infantile Systemic Hyalinosis
Feeding difficulties, Abnormality of the gastrointestinal tract, Chronic diarrhea, Steatorrhea, T... ORPHA:2176
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Chronic diarrhea, Weight loss, Poor appetite ORPHA:2221
Snakebite Envenomation
Pseudobulbar paralysis, Erythema, Neuromuscular dysphagia, Diarrhea, Vomiting, Angioedema, Ecchym... ORPHA:449285
Botulism
Abdominal pain, Dysphagia, Constipation, Xerostomia, Diarrhea, Nausea and vomiting ORPHA:1267
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Progeroid facial appearance, Small for gestational age, Failure to thrive OMIM:608154
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Propionic Acidemia
Constipation, Hypoglycemia, Failure to thrive, Vomiting, Feeding difficulties in infancy, Poor ap... OMIM:606054
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Protuberant abdomen, Lactose intolerance, Intestinal polyp, Large for gest... ORPHA:457485
Congenital Disorder Of Glycosylation, Type Iij
Feeding difficulties, Chronic diarrhea, Failure to thrive, Hepatic failure, Recurrent infection o... OMIM:613489
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Feeding difficulties... ORPHA:71212
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Gastroesophageal reflux, Death in infancy, Necrotizing enterocolitis, Ep... OMIM:201475
Granddad Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance OMIM:138920
Grfoma
Lack of bowel sounds, Poor appetite, Intestinal carcinoid, Subcutaneous lipoma, Zollinger-Ellison... ORPHA:97261
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Redundant neck skin, Diarrhea, Failure to thrive, Nausea and vomiting ORPHA:1842
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation, Hypoglycemia OMIM:615577
Agammaglobulinemia 4, Autosomal Recessive
Diarrhea OMIM:613502
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Chronic diarrhea, Failure to thrive OMIM:602473
Addison Disease
Abdominal pain, Constipation, Hypoglycemia, Anorexia, Weight loss, Type I diabetes mellitus, Diar... ORPHA:85138
Silver-Russell Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Small for gestational age, Hypoglycemia, Cleft palate ORPHA:397590
Multiple Endocrine Neoplasia, Type I
Esophagitis, Subcutaneous lipoma, Zollinger-Ellison syndrome, Hypoglycemia, Peptic ulcer, Diarrhea OMIM:131100
Nicolaides-Baraitser Syndrome
High, narrow palate, Excessive wrinkled skin ORPHA:3051
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss ORPHA:33276
Celiac Disease, Susceptibility To, 1
Abdominal pain, Stomatitis, Steatorrhea, Weight loss, Type I diabetes mellitus, Diarrhea, Failure... OMIM:212750
Myopathy, Myofibrillar, 1
Constipation, Diarrhea OMIM:601419
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Feeding difficulties, Nausea, Reye syndrome-like episodes, Diarrhea, Failure to thrive, Vomiting,... ORPHA:927
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Prominent veins on trunk, Feeding difficulties, Redundant skin, Abnormal subcutaneous fat tissue ... ORPHA:357074
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:220111
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Functional intestinal obstruction, Episodic ab... ORPHA:100079
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis, Gastrointestinal dysmotility, Hypoglycemia ORPHA:391428
Foodborne Botulism
Abdominal pain, Dysphagia, Constipation, Xerostomia, Diarrhea, Nausea and vomiting ORPHA:228371
Campomelia, Cumming Type
Abnormal intestine morphology, Prematurely aged appearance, Death in infancy, Cleft palate ORPHA:1318
X-Linked Agammaglobulinemia
Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive, Malabsorption, Skin ulcer ORPHA:47
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Chronic diarrhea, Esophageal stricture, Premature graying of hair OMIM:613989
Cholera
Abdominal cramps, Achlorhydria, Abdominal pain, Palmoplantar cutis laxa, Hypoglycemia, Diarrhea, ... ORPHA:173
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Nausea, Diarrhea, Poor appetite ORPHA:352447
Medullary Thyroid Carcinoma
Dysphagia, Diarrhea, Weight loss ORPHA:1332
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Multiple Acyl-Coa Dehydrogenase Deficiency
Nausea, Hypoglycemia, Glycosuria, Jaundice, Neonatal death, Vomiting OMIM:231680
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive ORPHA:73272
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Diarrhea, Failure to thrive, Vomiting, Diabetes mellitus OMIM:560000
Pancreatoblastoma
Abdominal pain, Weight loss, Jaundice, Diarrhea, Vomiting, Abdominal distention ORPHA:677
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Hypoglycemia, Small for gestational age, Dorsocervical fat pad, Diabetes m... ORPHA:391408
Primary Intestinal Lymphangiectasia
Abdominal pain, Weight loss, Diarrhea, Ileus, Failure to thrive, Nausea and vomiting, Malabsorption ORPHA:90362
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Dysphagia, Constipation, Intestinal obstruction, Urticaria OMIM:606764
Arthrogryposis Multiplex Congenita 5
Gastrostomy tube feeding in infancy, Death in infancy, Premature skin wrinkling OMIM:618947
Hereditary Fructose Intolerance
Abdominal pain, Constipation, Nausea, Chronic hepatic failure, Jaundice, Abdominal distention, Di... ORPHA:469
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Jaundice, Hepatic failure, Failure to thrive, Vomiting, Feeding difficulties in inf... OMIM:251880
Yao Syndrome
Xerostomia, Diarrhea, Weight loss, Abdominal pain OMIM:617321
Maculopapular Cutaneous Mastocytosis
Nausea and vomiting, Diarrhea, Telangiectasia of the skin ORPHA:79457
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Redundant skin, Cutis laxa, Failure to thrive, Reduced subcutaneous ... ORPHA:2963
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Vomiting, Feeding difficulties in infancy, Diarrhea, Failure to thrive OMIM:264350
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Constipation, Weight loss, Anorexia, Diarrhea, Failu... ORPHA:361
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Failure to thrive ORPHA:277
Immunodeficiency 22
Diarrhea, Failure to thrive OMIM:615758
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Progeria-Short Stature-Pigmented Nevi Syndrome
Prematurely aged appearance, Lack of facial subcutaneous fat, Gastroesophageal reflux, Progeroid ... ORPHA:2959
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Villous atrophy, Type I diabetes mellitus, Diarrhea, Abnormal intestine mor... ORPHA:391487
Paroxysmal Nocturnal Hemoglobinuria 2
Urticaria, Diarrhea, Abdominal pain OMIM:615399
Typhoid
Constipation, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain ORPHA:99745
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Reduced subcutaneous adipose tissue, Prematurely aged appearance OMIM:248010
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Colitis OMIM:619281
Silver-Russell Syndrome
Feeding difficulties, Insulin resistance, Constipation, Gastroesophageal reflux, Failure to thriv... ORPHA:813
Erythermalgia, Primary
Xerostomia, Constipation, Diarrhea OMIM:133020
Methanol Poisoning
Abdominal pain, Type I diabetes mellitus, Diarrhea, Type II diabetes mellitus, Vomiting ORPHA:31825
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Gastroesophageal reflux, Abnormality of subcutaneous fat tissue, Exce... ORPHA:1901
Ogden Syndrome
Minimal subcutaneous fat, Facial wrinkling, Redundant skin, Cutis laxa, High palate OMIM:300855
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Diarrhea, Poor appetite OMIM:201100
Whipple Disease
Gastrointestinal hemorrhage, Insulin resistance, Abdominal pain, Anorexia, Diarrhea, Cachexia, Ma... ORPHA:3452
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Failure to thrive, Diarrhea, Feeding difficulties OMIM:177735
Galactosemia I
Vomiting, Decreased liver function, Diarrhea, Failure to thrive OMIM:230400
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Feeding difficulties in infancy, Diarrhea OMIM:255120
Vipoma
Poor appetite, Subcutaneous lipoma, Benign gastrointestinal tract tumors, Neoplasm of the liver, ... ORPHA:97282
Hoyeraal-Hreidarsson Syndrome
Oral leukoplakia, Excessive wrinkled skin, Failure to thrive, Premature graying of hair ORPHA:3322
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Galactosemia
Feeding difficulties, Jaundice, Diarrhea, Failure to thrive, Hepatic failure, Vomiting ORPHA:352
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Achalasia ORPHA:436174
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hepatocellular adenoma, Hepatocellular carcinoma, Esophageal varix, Diarrhe... ORPHA:370
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Microscopic Polyangiitis
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Erythema,... ORPHA:727
Hypotonia-Cystinuria Syndrome
Feeding difficulties in infancy, Neonatal hypoglycemia, Failure to thrive OMIM:606407
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Severe failure to thrive, Hyp... OMIM:246200
Down Syndrome
Macroglossia, Prematurely aged appearance, Narrow palate, Aganglionic megacolon, Protruding tongu... ORPHA:870
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Autoimmune Lymphoproliferative Syndrome, Type V
Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease, Chronic atrophic ga... OMIM:616100
Congenital Disorder Of Glycosylation, Type Iie
Feeding difficulties, Gastroesophageal reflux, Hypoglycemia, Protruding tongue, Jaundice, Decreas... OMIM:608779
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Feeding difficulties, Hypoketotic hypoglycemia, Jaundice, Small for gestational age, ... ORPHA:26793
Maternal Uniparental Disomy Of Chromosome 4
Malnutrition, Decreased body weight, Type I diabetes mellitus, Diarrhea, Fat malabsorption ORPHA:96180
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea, Pallor ORPHA:56425
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Neoplasm of the liver, Anorexia, Weight loss, Intermittent jaundice, Diarrhea, Facial tel... ORPHA:100085
Pituitary Stalk Interruption Syndrome
Failure to thrive, Death in infancy, Hypoglycemia ORPHA:95496
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Inhalational Botulism
Nausea and vomiting, Xerostomia, Constipation, Diarrhea ORPHA:254504
Maple Syrup Urine Disease
Vomiting, Feeding difficulties in infancy, Hypoglycemia OMIM:248600
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Smith-Kingsmore Syndrome
Large for gestational age, Feeding difficulties, Hypoglycemia OMIM:616638
Immunodeficiency 46
Chronic diarrhea, Failure to thrive OMIM:616740
Trichothiodystrophy 5, Nonphotosensitive
Cutaneous photosensitivity, Chronic diarrhea, Progeroid facial appearance, Cutis marmorata OMIM:300953
Cockayne Syndrome
Premature skin wrinkling, Gastrostomy tube feeding in infancy, Gastroesophageal reflux, Reduced s... ORPHA:191
Neonatal Inflammatory Skin And Bowel Disease
Generalized abnormality of skin, Recurrent gastroenteritis, Scaling skin, Erythema, Perianal rash... ORPHA:294023
Graft Versus Host Disease
Gastrointestinal inflammation, Recurrent gastroenteritis, Abdominal pain, Nausea, Scaling skin, S... ORPHA:39812
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Hypoglycemia, Subcutaneous hemorrhage, Intestinal polyposis, Cachexia, Cutis marmo... ORPHA:109
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate ORPHA:1848
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Death in infancy, Esophageal varix, Failur... OMIM:614576
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia ORPHA:1198
Keppen-Lubinsky Syndrome
High palate, High, narrow palate, Progeroid facial appearance, Failure to thrive OMIM:614098
Werner Syndrome
Slender build, Prematurely aged appearance, Premature graying of hair, Insulin resistance, Subcut... ORPHA:902
Immunodeficiency 58
Psoriasiform lesion, Esophagitis, Cold urticaria, Helicobacter pylori infection, Dysphagia, Chron... OMIM:618131
Immunodeficiency 60
Crohn's disease, Chronic diarrhea, Ulcerative colitis, Colitis OMIM:618394
Acute Adrenal Insufficiency
Abdominal pain, Constipation, Hypoglycemia, Anorexia, Weight loss, Diarrhea, Failure to thrive, N... ORPHA:95409
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Intestinal perforation, Intussusception, Abdominal pain, Colonic sten... ORPHA:90038
Lissencephaly, X-Linked, 2
High palate, Feeding difficulties in infancy, Diarrhea OMIM:300215
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Feeding difficulties in infancy, Fulminant hepat... OMIM:231530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Vomiting, Failure to thrive, Feeding difficulties, Hypoglycemia OMIM:210210
Hepatocellular Carcinoma
Abdominal pain, Abnormal rectum morphology, Hypoglycemia, Anorexia, Esophageal varix, Weight loss... ORPHA:88673
Immunodeficiency 27A
Diarrhea, Weight loss, Anorexia OMIM:209950
Hyperphosphatemia, Polyuria, And Seizures
Vomiting, Diarrhea OMIM:239350
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Recurrent hypoglycemia, Small for gestational age OMIM:616817
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea, Hypoglycemia, High palate, Pyloric stenosis, Submucous cleft hard palate ORPHA:457279
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Weight loss, Diarrhea, A... ORPHA:309031
Keppen-Lubinsky Syndrome
High palate, Progeroid facial appearance, Failure to thrive, Premature skin wrinkling ORPHA:435628
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties, Abdomina... ORPHA:275761
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Esophagitis, Feeding difficulties in infancy, Insulin resistance, Constipat... ORPHA:96182
Wild Type Attr Amyloidosis
Chronic diarrhea, Weight loss, Bowel incontinence, Gastrointestinal dysmotility, Intermittent dia... ORPHA:330001
Deeah Syndrome
Narrow palate, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Dysphagia, Death in adol... OMIM:619004
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma, Small for gestational age OMIM:180860
Immunodeficiency 59 And Hypoglycemia
Stomatitis, Death in childhood, Diarrhea, High palate, Malabsorption OMIM:233600
Fructose Intolerance, Hereditary
Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Nausea, Hypoglycemia, Glycosuria, Jaun... OMIM:229600
Bannayan-Riley-Ruvalcaba syndrome
Angiokeratoma, Intussusception, Hematochezia, Hypoglycemia, High palate, Hamartomatous polyposis OMIM:153480
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Juvenile Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Rectocele, Gastrointestinal hemorrhage,... ORPHA:2929
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Diarrhea, Pyoderma gangrenosum OMIM:150550
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Bruising susceptibility, Telangiectasia of the skin, Striae distensa... ORPHA:758
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Cutis marmorata, Failure to thrive in infancy, Colitis OMIM:301220
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Urticaria, Anorexia, Diarrhea, Cutis marmorata, Malabsorpti... ORPHA:33226
Cog4-Cdg
Fatal liver failure in infancy, Feeding difficulties, Failure to thrive in infancy, Intermittent ... ORPHA:263501
Progeroid Facial Appearance With Hand Anomalies
Prominent superficial veins, Reduced subcutaneous adipose tissue, Progeroid facial appearance OMIM:602249
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Constipation, Nausea, Episodic vomiting, Diarrhea, Abdominal distention ORPHA:100924
Mitochondrial Complex I Deficiency, Nuclear Type 19
Feeding difficulties, Hypoglycemia OMIM:618241
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Trichothiodystrophy 1, Photosensitive
Chronic diarrhea, Small for gestational age, Cutaneous photosensitivity, Malabsorption, Intestina... OMIM:601675
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Failure to thrive, Feeding difficulties, Hypoglycemia OMIM:618005
Mastocytosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Anorexia, Diarrhea, Nausea and vomiting,... ORPHA:98292
Tenorio Syndrome
Macroglossia, Gastroesophageal reflux, Stomatitis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Orthostatic Hypotension 1
High palate, Neonatal hypoglycemia OMIM:223360
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Excessive wrinkled skin, Dermal translucency OMIM:614438
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Vomiting, Nausea, Chronic diarrhea, Penetrating foot ulcers OMIM:118230
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Hypoglycemia OMIM:201450
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice OMIM:201400
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Hypoglycemia ORPHA:156
Wiedemann-Rautenstrauch Syndrome
Feeding difficulties, Premature skin wrinkling, Dysphagia, Prominent scalp veins, Failure to thri... OMIM:264090
Multiple Acyl-Coa Dehydrogenase Deficiency
Feeding difficulties, Dysphagia, Hypoglycemia, Reye syndrome-like episodes, Decreased liver funct... ORPHA:26791
Yellow Fever
Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Anorexia, Jaundice, Diarrhea,... ORPHA:99829
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Redundant skin, Failure to thrive in infancy, Function... ORPHA:1340
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Steatorrhea, Diarrhea, Failure to thrive, High palate OMIM:617941
Autosomal Dominant Severe Congenital Neutropenia
Abdominal pain, Diarrhea, Pyoderma gangrenosum, Recurrent aphthous stomatitis, Recurrent infectio... ORPHA:486
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Generalized abnormality of skin, Insulin resistance, Premature skin wrinkling, Pro... ORPHA:740
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Intussusception, Gastrointestinal infarctions, Abdominal c... ORPHA:544482
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Urticaria, Nausea, Flushing, Weight loss, Peptic ulcer, Diarrhea, Pallor ORPHA:98849
Mitochondrial Dna Depletion Syndrome 11
Nausea, Diarrhea OMIM:615084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Hypoketotic hypoglycemia OMIM:600649
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Alternating Hemiplegia Of Childhood
Dysphagia, Abnormality of the gastrointestinal tract, Constipation, Flushing, Anorexia, Oral-phar... ORPHA:2131
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Carcinoid Syndrome
Lack of bowel sounds, Intestinal carcinoid, Small intestine carcinoid, Protracted diarrhea, Nause... ORPHA:100093
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Weight loss, Anorexia, Reye syndrome-like episodes, Jaundice, Episodic v... ORPHA:20
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Protracted diarrhea, Failure to thrive secondary to recurrent infections, Diarrhea, Anorexia ORPHA:169160
Familial Mediterranean Fever
Oral leukoplakia, Peritonitis, Abdominal pain, Gastrointestinal infarctions, Constipation, Acute ... ORPHA:342
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Premature graying of hair, Insulin resistance, Postprandial h... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Insulin resistance, Hypoglycemia, Diarrhea, Vomiting ORPHA:230
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-... ORPHA:100076
Dominant Beta-Thalassemia
Feeding difficulties, Hepatocellular carcinoma, Failure to thrive in infancy, Jaundice, Diarrhea,... ORPHA:231226
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Acute hepatic failure, Esophageal strictu... ORPHA:36426
Tyrosinemia, Type I
Paralytic ileus, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Acute hepatic failure, Hy... OMIM:276700
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling ORPHA:363618
Sheehan Syndrome
Constipation, Nausea, Hypoglycemia, Dry skin, Pallor, Poor appetite, Obesity ORPHA:91355
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Hypoglycemia, Prolonged neonatal jaundice, Na... ORPHA:565
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin ORPHA:137608
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, Insulin resistance, Progeroid facial appearance, High palate, Lack o... ORPHA:90153
De Barsy Syndrome
Prominent veins on trunk, Dermal translucency, Cutis laxa, Progeroid facial appearance, Failure t... ORPHA:2962
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Diarrhea, Malabsorption, Type I diabetes mellitus, Chronic atrophic gastritis OMIM:240300
Boutonneuse Fever
Petechiae, Nausea, Diarrhea, Abdominal pain ORPHA:83313
Scleromyxedema
Generalized abnormality of skin, Abnormality of the gastrointestinal tract, Dysphagia, Gastroesop... ORPHA:167635
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib