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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Abnormal intestine morphology, Malnutrition, Villous atrophy, Death in infancy OMIM:251850
Microvillus Inclusion Disease
Abdominal distention, Abnormality of small intestinal villus morphology, Diarrhea, Villous atrophy ORPHA:2290

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
Decreased small intestinal mucosa lactase level, Abdominal pain, Lactose intolerance, Flatulence,... OMIM:223100
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Abnormal intestine morphology, Malnutrition, Villous atrophy, Death in infancy OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Small for gestational age, Villous atrophy OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Hypoglycemia, Hyperinsulinemia, Failure to thrive, Abnormal inte... OMIM:606528
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Erythema, Early cutaneous photosensitivity, Death in infancy, Diarrhea OMIM:219095
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Villous atrophy, Protein-losing enteropathy, Diarrhea, Vomiting OMIM:615863
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Microvillar PAS-positive secretory granules, Abdominal distention, Depend... OMIM:619445
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Abnormality of body weight, Abdominal pain, Vomiting ORPHA:314811
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia, Malabsorption, Villous atrophy, Diarrhea OMIM:600955
Trehalase Deficiency
Abdominal pain, Abdominal distention, Malabsorption, Diarrhea, Vomiting ORPHA:103909
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Chronic diarrhea, Failure to thrive, Increased fecal bile acid, Steatorrhea OMIM:613291
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Perianal erythema, Perioral erythema, Failure to thrive, Villous atrophy, Duoden... OMIM:614328
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Immunodeficiency 31C
Abnormal intestine morphology, Diabetes mellitus, Diarrhea, Villous atrophy OMIM:614162
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Abdominal pain, Diarrhea OMIM:222900
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Constipation, Aganglionic megacolon, Abnormality of th... ORPHA:95427
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Lactose intolerance, Diarrhea OMIM:223000
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Failure to thrive, Villous atrophy, Protein-losing enteropathy, Hyperinsulinemic... OMIM:602579
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Bloody mucoid diarrh... ORPHA:209964
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Pancolitis, Chronic diarrhea, Abdominal pain, Ileitis, Abnormal intestine morpho... OMIM:619079
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Glucose/Galactose Malabsorption
Glycosuria, Chronic diarrhea, Hyperactive bowel sounds, Abdominal distention, Failure to thrive, ... OMIM:606824
Immunodeficiency 19
Failure to thrive, Diarrhea OMIM:615617
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Congenital Tufting Enteropathy
Weight loss, Vomiting, Abnormal small intestinal mucosa morphology, Chronic diarrhea, Anal atresi... ORPHA:92050
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Constipation, Aganglionic megacolon, Nausea and vomiti... ORPHA:388
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting, Angioedema OMIM:619367
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Abnormal intestine morphology, Diarrhea OMIM:618495
Congenital Short Bowel Syndrome
Abnormal peristalsis, Decreased intestinal transit time, Vomiting, Intestinal malrotation, Chroni... OMIM:615237
Vascular Hyalinosis
Premature graying of hair, Hematochezia, Malabsorption, Protein-losing enteropathy, Diarrhea OMIM:277175
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Cap Polyposis
Colorectal polyposis, Hematochezia, Weight loss, Constipation, Abdominal pain, Abdominal distenti... ORPHA:160148
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Diarrhea 6
Abdominal pain, Diarrhea OMIM:614616
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Urticaria, Failure to thrive, Enterocolitis, Episodic vomiting, ... OMIM:616050
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Trichohepatoenteric Syndrome 2
Small for gestational age, Colitis, Failure to thrive, Villous atrophy, Diarrhea OMIM:614602
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Feeding difficulties in infancy, Hypoglycemia, Small for gestational age, Gastrojejunal tube feed... ORPHA:231147
Microvillus Inclusion Disease
Abdominal distention, Abnormality of small intestinal villus morphology, Diarrhea, Villous atrophy ORPHA:2290
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Ménétrier Disease
Nausea, Weight loss, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylo... ORPHA:2494
Coproporphyria, Hereditary
Constipation, Cutaneous photosensitivity, Jaundice, Abdominal pain, Increased fecal coproporphyri... OMIM:121300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Small for gestational age... OMIM:262190
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Feeding difficulties, Jejunal atresia, Abdominal d... ORPHA:1201
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Enteric Anendocrinosis
Malabsorption, Type I diabetes mellitus, Diarrhea, Vomiting ORPHA:83620
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Feeding difficulties, Cutis... ORPHA:79325
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:610090
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Protein-losing enteropathy, Diarrhea, Weight loss ORPHA:103910
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Feeding difficulties in infancy, High palate, Decreased body weight, Hypoglycemia, Neonatal hypog... ORPHA:231140
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Hypoglycemia, Jaundice, Failure to thrive, Death in infancy OMIM:617156
Maculopapular Cutaneous Mastocytosis
Nausea, Dermatographic urticaria, Erythema, Darier's sign, Flushing, Abdominal pain, Generalized ... ORPHA:79457
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Erythema, Diarrhea OMIM:609313
Chylomicron Retention Disease
Failure to thrive, Malnutrition, Diarrhea, Steatorrhea, Vomiting OMIM:246700
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Reticular Dysgenesis
Failure to thrive, Diarrhea, Malabsorption, Skin ulcer, Weight loss ORPHA:33355
Cog7-Cdg
Small for gestational age, Feeding difficulties, Jaundice, Failure to thrive, Excessive wrinkled ... ORPHA:79333
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Slender build, Constipation, Gastrointestinal dysm... OMIM:603041
Netherton Syndrome
Angioedema, Urticaria, Failure to thrive, Intestinal atresia, Abnormal intestine morphology, Vill... OMIM:256500
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia, Pyloric stenosis ORPHA:664
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Immunodeficiency 48
Failure to thrive, Diarrhea OMIM:269840
Brunner Syndrome
Flushing, Diarrhea OMIM:300615
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Death in childhood, Failure to thrive, Intermittent jaundice, Hepatocellular c... OMIM:601847
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Failure to thrive, Villous atrophy, Diarrhea, Vomiting OMIM:601110
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Feeding... ORPHA:276580
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Abnormal intestine morphology, Secretory diarrhea, Diarrhea, Vomiting OMIM:600351
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Refractory Celiac Disease
Chronic diarrhea, Abdominal pain, Malnutrition, Protein-losing enteropathy, Villous atrophy, Mala... ORPHA:398063
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Hypoketotic hypoglycemia, Pallor, ... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Microphthalmia, Syndromic 8
Premature skin wrinkling, Cleft palate OMIM:601349
Eosinophilic Gastroenteritis
Hematochezia, Abnormality of the gastrointestinal tract, Weight loss, Vomiting, Abdominal pain, D... ORPHA:2070
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Feeding difficulties OMIM:616111
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Abnormal circulating insulin level ORPHA:171706
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatic failure, Hypoglycemia, Vomiting OMIM:617872
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Chronic diarrhea, Villous atrophy, Tube feeding, Vomiting OMIM:619510
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, Feeding difficulties, R... ORPHA:276556
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Volvulus Of Midgut
Constipation, Intestinal malrotation, Neonatal intestinal obstruction, Abdominal distention, Volv... OMIM:193250
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Feeding difficulties, Small for gestational age OMIM:614702
Osteootohepatoenteric Syndrome
Abdominal pain, Failure to thrive, Prolonged neonatal jaundice, Episodic vomiting, Increased inte... OMIM:619377
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Bare Lymphocyte Syndrome, Type Ii
Colitis, Protracted diarrhea, Failure to thrive, Malabsorption, Villous atrophy OMIM:209920
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Diarrhea OMIM:613501
Mpi-Cdg
Gastrointestinal hemorrhage, Decreased liver function, Failure to thrive, Protein-losing enteropa... ORPHA:79319
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, Diabetes mellitus, Type II ... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Rabies
Nausea and vomiting, Anorexia, Diarrhea ORPHA:770
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Feeding... ORPHA:276575
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Hypoglycemia, Failure to thrive, Nasogastric tube feeding, Vomiting ORPHA:289504
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Cholesteryl Ester Storage Disease
Hepatic failure, Jaundice, Esophageal varix, Nausea and vomiting, Diarrhea ORPHA:75234
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Small for gestational age, Erythema, Anorexia... OMIM:557000
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Failure to thrive, ... OMIM:174900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Chronic diarrhea, Failure to thrive, Villous atrophy, Type I diabetes mellitus OMIM:304790
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Failure to thrive, Progeroid facial appearance, Small for gestational age, Slender build ORPHA:50811
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cutaneous photosensitivity, Chronic diarrhea, Malabsorption, Cachexia, Duodenal ulcer, Steatorrhea ORPHA:3217
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Anorexia, Hamartomatous polyposis, Abdominal pain, Mala... OMIM:175500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Glucose... OMIM:269880
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Reye syndrome-like episodes, Acral ulceration, Acute hepatic failure, Failure to th... OMIM:256810
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gastroesophageal reflux OMIM:618158
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Mehmo Syndrome
Obesity, Hypoglycemia, Cleft palate, Small for gestational age OMIM:300148
Temple Syndrome
Feeding difficulties in infancy, Bifid uvula, Small for gestational age, Recurrent hypoglycemia, ... ORPHA:254516
Cog8-Cdg
Failure to thrive, Hypoglycemia, Spontaneous hematomas, Protein-losing enteropathy ORPHA:95428
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, ... ORPHA:90362
Craniofaciofrontodigital Syndrome
Large for gestational age, Gastrointestinal hemorrhage, Prominent superficial veins, Gastrointest... ORPHA:363705
Cutis Laxa, Autosomal Dominant 3
Feeding difficulties, Premature skin wrinkling, Cutis laxa OMIM:616603
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Anorexia, Hamartomatous polyposis, Abdominal pain, Furr... ORPHA:2930
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia ORPHA:446
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Malabsorption, Anteriorly placed anus, Hyperglycemia, Di... OMIM:615710
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Constipation, Abdominal pain, Chronic constipation, Diarrhea, Vomiting OMIM:248360
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Abnormality of the gastrointestinal tract, Weight loss, Gas... ORPHA:298
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Failure to thrive, Diarrhea, Steatorrhea OMIM:235555
Anal Sphincter Dysplasia
Constipation, Encopresis, Bowel incontinence, Chronic constipation, Diarrhea OMIM:105563
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Abnormality of the gastrointestinal tract, Failure to thrive, P... ORPHA:2089
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Nausea, Angioedema, Dermatographic urticaria, Erythem... ORPHA:79455
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Anal atresia OMIM:227260
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Diarrhea OMIM:608971
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Transaldolase Deficiency
Telangiectasia, Premature skin wrinkling ORPHA:101028
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Bloody diarrhea, Hypoglycemia, Failure to thrive... ORPHA:810
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Poor suck, Hypoglycemia, Small for gestational age, Decreased liver function, Episodic vomiting OMIM:615160
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Folate Malabsorption, Hereditary
Malabsorption, Feeding difficulties in infancy, Failure to thrive, Diarrhea OMIM:229050
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Hypoglycemia, Dysphagia OMIM:618958
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Abdominal distention, Hypoglycemia, Failure to thrive ORPHA:369
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Chronic diarrhea, Scaling skin, Villous atrophy, Type I diabetes me... OMIM:606367
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles OMIM:227210
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Colitis, Psoriasiform lesion, Chronic diarrhea, Inflammation of the lar... OMIM:614700
Propionic Acidemia
Constipation, Hypoglycemia ORPHA:35
Immunodeficiency 76
Colitis, Chronic diarrhea, Death in childhood OMIM:619164
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Feeding difficulties ORPHA:26792
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Steatorrhea OMIM:607748
Acrogeria
Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance ORPHA:2500
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Shashi-Pena Syndrome
Feeding difficulties in infancy, Hypoglycemia OMIM:617190
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Intermittent diarrhea, Weight loss, Colon cancer, Anorexia, Ne... ORPHA:1333
Isolated Agammaglobulinemia
Malabsorption, Failure to thrive, Skin ulcer, Diarrhea ORPHA:229717
Immunodeficiency 57 With Autoinflammation
Gastritis, Inflammation of the large intestine, Failure to thrive, Perianal abscess, Diarrhea OMIM:618108
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia OMIM:619048
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Jaundice, Failure to thrive, Diarrhea, Steatorrhea OMIM:607765
Chylomicron Retention Disease
Fat malabsorption, Vomiting, Abdominal distention, Failure to thrive, Diarrhea, Steatorrhea ORPHA:71
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Erythema, Urticaria, Recurrent aphthous stomatitis, Abd... ORPHA:343
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Chronic diarrhea, Jaundice, Nausea and vomiting, Abdominal pain, Hepatocellular carcino... ORPHA:65682
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Diarrhea, Vomiting OMIM:616069
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Congenital pyloric atresia, Dry skin, Prematurely aged appearance ORPHA:2617
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Feeding difficulties, Death in childhood, Failure to thrive, Neonatal death, Death ... OMIM:245400
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Failure to thrive, Protein-losing enteropathy, Di... OMIM:608104
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Visceral Myopathy 1
Megaduodenum, Constipation, Aganglionic megacolon, Microcolon, Abdominal pain, Abdominal distenti... OMIM:155310
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Jaundice, Failure to thrive, Diarrhea, Steatorrhea OMIM:613812
Fg Syndrome Type 1
High palate, Malrotation of colon, Slender build, Constipation, Gastroesophageal reflux, Anal atr... ORPHA:93932
Dracunculiasis
Nausea and vomiting, Skin ulcer, Diarrhea ORPHA:231
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Abnorm... ORPHA:70475
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Feeding difficulties OMIM:246900
Neuroendocrine Tumor Of The Rectum
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Anorexia, Abdomina... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Bloody diarrhea, Weight loss, Constipation, Protracted diarrhea, Anorexia, Abdomina... ORPHA:100082
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Fat malabsorption, Diarrhea, Jaundice OMIM:211600
Mody
Exocrine pancreatic insufficiency, Large for gestational age, Glycosuria, Neonatal hypoglycemia, ... ORPHA:552
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Dermatographic urticaria, Darier's sign, Urticaria, Flushing, Abdomi... ORPHA:79456
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hypoadrenocorticism, Familial
Cyanosis, Feeding difficulties in infancy, Hypoglycemia, Vomiting OMIM:240200
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive, Vomiting OMIM:212140
Ataxia-Telangiectasia
Premature graying of hair, Mucosal telangiectasiae, Prematurely aged appearance, Telangiectasia o... ORPHA:100
Angioedema, Hereditary, 1
Angioedema, Erythema, Abdominal pain, Intestinal edema, Diarrhea, Vomiting OMIM:106100
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Vomiting ORPHA:79159
Enterokinase Deficiency
Failure to thrive, Diarrhea OMIM:226200
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Hypoglycemia, Chronic diarrhea OMIM:616355
Alpha-Heavy Chain Disease
Malabsorption, Abdominal pain, Abnormality of the small intestine ORPHA:100025
Intestinal Botulism
Nausea and vomiting, Dysphagia, Death in infancy, Xerostomia, Diarrhea ORPHA:178481
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Diarrhea, Increased body weight ORPHA:94086
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea OMIM:615592
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Dysphagia OMIM:618253
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Weight loss, Dry skin, Type I diabetes mellitus, Constipation, Anorexia, Abdominal ... ORPHA:199299
Lipodystrophy, Familial Partial, Type 7
Cutis marmorata, Type I diabetes mellitus, Small for gestational age, Insulin resistance, Decreas... OMIM:606721
Encephalopathy, Ethylmalonic
Petechiae, Feeding difficulties, Chronic diarrhea, Failure to thrive, Acrocyanosis, Death in infancy OMIM:602473
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Feeding difficulties in infancy, Gastrostomy tube feeding in infancy, Hypoglycemia, Small for ges... ORPHA:231137
Hereditary Folate Malabsorption
Gastroesophageal reflux, Anorexia, Nausea and vomiting, Failure to thrive, Pallor, Diarrhea, Glos... ORPHA:90045
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Intestinal malrotation, Cutis laxa, Anal atresia, Abdominal distention, Sec... OMIM:270420
Riboflavin Deficiency
Poor suck, Hypoglycemia OMIM:615026
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Diarrhea, Jaundice OMIM:602347
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Intestinal malrotation, Rectal atresia, Death in ... OMIM:243150
Glycerol Kinase Deficiency
Hypoglycemia, Episodic vomiting, Small for gestational age OMIM:307030
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Hypoglycemia, Feeding difficulties, Failure to thrive, Vomiting ORPHA:2394
Immunodeficiency 55
Diarrhea, Dry skin OMIM:617827
Acrodermatitis Enteropathica
Weight loss, Poor appetite, Erythema, Anorexia, Chronic diarrhea, Furrowed tongue, Failure to thr... ORPHA:37
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Weight loss, Protracted diarrhea, Anorexia, Abdominal pain, Melena, Bowel urgenc... ORPHA:100080
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Anorexia OMIM:619386
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Constipation, Recurrent hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Weigh... ORPHA:2126
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Progeroid facial appearance, Prematurely aged appearance OMIM:123700
Aggressive Systemic Mastocytosis
Weight loss, Gastrointestinal hemorrhage, Urticaria, Decreased liver function, Anorexia, Flushing... ORPHA:98850
Intellectual Developmental Disorder, Autosomal Dominant 57
Constipation, High palate, Feeding difficulties, Diarrhea OMIM:618050
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Laron Syndrome
Hypoglycemia, Truncal obesity, Prematurely aged appearance ORPHA:633
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Failure to thrive, Diarrhea, Weight loss ORPHA:178029
Neuroendocrine Tumor Of Stomach
Bloody diarrhea, Hepatic failure, Intermittent diarrhea, Weight loss, Protracted diarrhea, Zollin... ORPHA:100075
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Zollinger-Ellison syndrome, Recurrent hypoglycemia, Re... ORPHA:97279
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Anorexia, Diarrhea, Diabetes mellitus ORPHA:49827
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Intestinal malrotation, Abdominal distention, Congenital shorten... OMIM:300048
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Constipation, Diarrhea OMIM:615548
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Colitis, Inflammation of the large intestine, Failure to thrive, Dysphagia, Chronic gastritis, Di... OMIM:608809
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Jaundice, Vomiting OMIM:616483
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Diarrhea, Failure to thrive secondary to recurrent infections OMIM:601457
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia, Fragile skin, Death in infancy OMIM:226730
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia ORPHA:163693
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea, Death in childhood OMIM:266250
Hemochromatosis, Neonatal
Hepatic failure, Prolonged neonatal jaundice, Hypoglycemia OMIM:231100
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Weight loss, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, A... ORPHA:67
Immunodeficiency 59 And Hypoglycemia
High palate, Hypoglycemia, Chronic diarrhea, Recurrent aphthous stomatitis, Prolonged neonatal ja... OMIM:233600
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Adiposis Dolorosa
Bruising susceptibility, Dry skin, Constipation, Obesity, Telangiectasia of the skin, Xerostomia,... ORPHA:36397
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Jaundice, Failure to thrive, Death in infancy OMIM:617049
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Failure to thrive, Fat malabsorption, Prolonged neonatal jaundice OMIM:214950
Attrv30M Amyloidosis
Constipation, Weight loss, Diarrhea ORPHA:85447
Erythroderma Desquamativum
Failure to thrive, Diarrhea ORPHA:314
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Death in... OMIM:609069
Parenteral Nutrition-Associated Cholestasis
Hepatic failure, Small for gestational age, Jaundice, Abdominal pain, Villous atrophy ORPHA:567983
Cataract-Intellectual Disability-Hypogonadism Syndrome
Feeding difficulties in infancy, Furrowed tongue, High palate, Prematurely aged appearance ORPHA:1387
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Small for gestational age, Death in adolescence, Feeding dif... OMIM:619055
Cog5-Cdg
High palate, Gastrostomy tube feeding in infancy, Premature skin wrinkling ORPHA:263487
Rapadilino Syndrome
High palate, Diarrhea, High, narrow palate, Cleft palate OMIM:266280
Opitz-Kaveggia Syndrome
Anal stenosis, Constipation, Intestinal malrotation, Anal atresia, Facial wrinkling, Pyloric sten... OMIM:305450
Ethylmalonic Encephalopathy
Acrocyanosis, Failure to thrive, Petechiae, Diarrhea ORPHA:51188
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Petechiae, Abnormality of the gastrointestinal tract, Gastrointes... ORPHA:85450
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Anal atresia, Prematurely aged appearance ORPHA:1807
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Failure to thrive, Neonatal hypoglycemia, Death in infancy OMIM:619046
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Feeding difficulties ORPHA:79096
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Cachexia, Diarrhea, Vomiting ORPHA:42
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Hepatoblastoma, Small for gestational age, Gastritis, Coli... ORPHA:84064
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Fasting hypoglycemia, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Bachmann-Bupp Syndrome
Large for gestational age, Feeding difficulties in infancy, High palate, Hypoglycemia, Dry skin OMIM:619075
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Hypoglycemia, Fasting hypoglycemia, Esophageal varix, Failure to thrive, Increased body w... ORPHA:264580
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Feeding difficulties in infancy, Failure to thrive, Hypoglycemia, Vomiting OMIM:210200
Ppoma
Subcutaneous lipoma, Intestinal carcinoid, Weight loss, Gastrointestinal hemorrhage, Constipation... ORPHA:97278
Somatostatinoma
Subcutaneous lipoma, Weight loss, Gastrointestinal hemorrhage, Constipation, Anorexia, Nausea and... ORPHA:97283
Cholera
Hypoglycemia, Palmoplantar cutis laxa, Achlorhydria, Abdominal cramps, Miscarriage, Abdominal pai... ORPHA:173
Juvenile Polyposis Of Infancy
Hematochezia, Subcutaneous lipoma, Gastrointestinal hemorrhage, Intussusception, High, narrow pal... ORPHA:79076
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Small for gestational age, Feeding difficulties, Failure to thrive ORPHA:79237
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Bifid uvula, Hepatic failure, Small for gestational age, Jaundice, Failure ... OMIM:222470
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Abnormal intestine morphology, Malabsorption, Intestinal obstruction, Diarrhea, V... OMIM:226300
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Reye syndrome-like episodes, Pallor, D... ORPHA:348
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia, Feeding difficulties OMIM:614739
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Feeding difficulties ORPHA:5
Hereditary Angioedema Type 1
Nausea, Dermatographic urticaria, Abnormal soft palate morphology, Urticaria, Abdominal pain, Abn... ORPHA:100050
Classic Galactosemia
Hepatic failure, Hypoglycemia, Feeding difficulties, Jaundice, Diarrhea, Vomiting ORPHA:79239
Spontaneous Periodic Hypothermia
Pallor, Nausea and vomiting, Diarrhea ORPHA:29822
Autosomal Dominant Cutis Laxa
Dermal translucency, Prematurely aged appearance, Small bowel diverticula, Feeding difficulties, ... ORPHA:90348
Porphyria
Constipation, Cutaneous photosensitivity, Anorexia, Abdominal pain, Nausea and vomiting, Diarrhea ORPHA:738
Glucagonoma
Subcutaneous lipoma, Weight loss, Gastrointestinal hemorrhage, Stomatitis, Constipation, Anorexia... ORPHA:97280
Glutaric Aciduria Iii
Failure to thrive, Diarrhea, Vomiting OMIM:231690
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Feeding difficulties ORPHA:3006
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Aganglionic megacolon, Abdominal pain, Pallor, Di... ORPHA:3386
Acquired Partial Lipodystrophy
Progeroid facial appearance, Insulin resistance ORPHA:79087
Mirage Syndrome
Petechiae, Achalasia, Decreased body weight, Hypoglycemia, Gastroesophageal reflux, Chronic diarr... OMIM:617053
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hypoglycemia, Death in childhood, Vomiting OMIM:246450
Glucose-Galactose Malabsorption
Weight loss, Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Malnutrition, Dia... ORPHA:35710
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Recurrent hypoglycemia, Feeding difficulties, H... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Feeding difficulties, Chronic diarrhea, Failure to thrive, Recurrent infection o... OMIM:613489
Fontaine Progeroid Syndrome
Dermal translucency, Prominent superficial veins, Prematurely aged appearance, Small for gestatio... OMIM:612289
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Zollinger-Ellison Syndrome
Hematochezia, Nausea, Weight loss, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Eryth... ORPHA:913
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Zollinger-Ellison syndrome, Esophagitis, Peptic ulcer, Diarrhea OMIM:131100
Alg6-Cdg
Feeding difficulties, Jaundice, Macroglossia, Failure to thrive, Protein-losing enteropathy ORPHA:79320
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Failure to thrive, Malabsorption, Protruding tongue, Diarrhea OMIM:242860
Congenital Toxoplasmosis
Failure to thrive in infancy, Diarrhea, Jaundice ORPHA:858
Autosomal Agammaglobulinemia
Malabsorption, High palate, Failure to thrive, Diarrhea ORPHA:33110
Porphyria Due To Ala Dehydratase Deficiency
Nausea, Constipation, Abdominal pain, Abdominal distention, Episodic vomiting, Increased fecal co... ORPHA:100924
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Anorexia, Pallor, Hyperglycemia, Diarrhea, Vomiting ORPHA:134
Porphyria, Acute Intermittent
Nausea, Constipation, Paralytic ileus, Abdominal pain, Hepatocellular carcinoma, Diarrhea, Vomiting OMIM:176000
Aa Amyloidosis
Nausea, Chronic diarrhea, Abdominal pain, Malnutrition, Malabsorption, Vomiting ORPHA:85445
Short Syndrome
Insulin resistance, Diabetes mellitus, Poor appetite, Excessive wrinkled skin, Weight loss ORPHA:3163
Propionic Acidemia
Feeding difficulties in infancy, Hypoglycemia, Constipation, Failure to thrive, Poor appetite, Vo... OMIM:606054
Immunodeficiency 69
Failure to thrive, Diarrhea OMIM:618963
Fanconi-Bickel Syndrome
Glycosuria, Hepatic failure, Fasting hypoglycemia, Abdominal distention, Failure to thrive, Diabe... ORPHA:2088
Chromosome 19P13.13 Deletion Syndrome
Constipation, Feeding difficulties, Abdominal pain, Diarrhea, Vomiting OMIM:613638
Satoyoshi Syndrome
Malabsorption, Diarrhea OMIM:600705
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia, Decreased liver function OMIM:618835
Granddad Syndrome
Progeroid facial appearance, Reduced subcutaneous adipose tissue OMIM:138920
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia, Decreased liver function OMIM:618839
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Chronic diarrhea, Protein-lo... ORPHA:79327
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia OMIM:614736
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Chronic diarrhea, Steatorrhea OMIM:619481
Ileal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Weight loss, Abnormal bowel sounds, Zollinger-Ell... ORPHA:100078
Jejunal Neuroendocrine Tumor
Nausea, Hepatic failure, Intermittent diarrhea, Weight loss, Abnormal bowel sounds, Zollinger-Ell... ORPHA:100077
Sepsis In Premature Infants
Cyanosis, Petechiae, Decreased body weight, Small for gestational age, Gastrointestinal dysmotili... ORPHA:90051
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Intestinal polyp, Protuberant abdomen, Lactose ... ORPHA:457485
Lysosomal Acid Lipase Deficiency
Hepatic failure, Protuberant abdomen, Acute hepatic failure, Esophageal varix, Failure to thrive,... OMIM:278000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Hypoglycemic seizures, Neonatal hypoglycemia, Acute hepatic fail... ORPHA:71212
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Abdominal distention, Abnormal glucose h... ORPHA:391673
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, High, narrow palate ORPHA:3051
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Hypoglycemia, Pyloric stenosis OMIM:615577
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Failure to thrive, Progeroid facial appearance, Small for gestational age, Slender build OMIM:608154
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Gastroesophageal reflux, Episodic vomiting, Death in infancy, Necrotizin... OMIM:201475
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Urticaria, Chronic diarrhea, Feeding difficulties, Tel... ORPHA:2176
Retinal Dystrophy And Microvillus Inclusion Disease
Death in infancy, Chronic diarrhea OMIM:619446
Snakebite Envenomation
Ecchymosis, Angioedema, Vomiting, Erythema, Neuromuscular dysphagia, Diarrhea, Pseudobulbar paral... ORPHA:449285
Botulism
Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diarrhea ORPHA:1267
Acquired Hypertrichosis Lanuginosa
Weight loss, Chronic diarrhea, Macroglossia, Poor appetite, Glossitis ORPHA:2221
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Abdominal pain, Nausea and vomit... ORPHA:99828
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Prominent veins on trunk, Feeding difficulties, Cutis laxa, Abnormal subcutaneous fa... ORPHA:357074
Multiple Endocrine Neoplasia, Type Iib
High palate, Failure to thrive in infancy, Constipation, Colonic diverticula, Aganglionic megacol... OMIM:162300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:220111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatic failure, Hypoglycemia, Jaundice, Failure to thrive, Vomi... OMIM:251880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Nausea, Fasting hypoglycemia, Recurrent hypoglycemia, Increased body weight... ORPHA:79240
Grfoma
Subcutaneous lipoma, Intestinal carcinoid, Weight loss, Gastrointestinal hemorrhage, Constipation... ORPHA:97261
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Weight loss, Diarrhea ORPHA:33276
Hsd10 Disease, Infantile Type
Cyanosis, Gastrointestinal dysmotility, Hypoglycemia, Dysphagia ORPHA:391428
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Failure to thrive, Redundant neck skin, Diarrhea, Weight loss ORPHA:1842
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Nausea, Hypoglycemia, Jaundice, Neonatal death, Vomiting OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Silver-Russell Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Hypoglycemia, Cleft palate, Small for gestational age ORPHA:397590
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Vasculitis in the skin, Crohn's disease, Weight loss, Gastritis, Colitis, A... OMIM:619381
Myopathy, Myofibrillar, 1
Constipation, Diarrhea OMIM:601419
X-Linked Agammaglobulinemia
Chronic diarrhea, Failure to thrive, Glossoptosis, Malabsorption, Skin ulcer, Weight loss ORPHA:47
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Dysphagia, Poor appetite ORPHA:352447
Addison Disease
Hypoglycemia, Weight loss, Dry skin, Type I diabetes mellitus, Constipation, Anorexia, Abdominal ... ORPHA:85138
Pancreatoblastoma
Weight loss, Jaundice, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:677
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Nausea, Feeding difficulties, Reye syndrome-like episodes, Failure to thrive, Poor appetite, Diar... ORPHA:927
Foodborne Botulism
Constipation, Nausea and vomiting, Abdominal pain, Dysphagia, Xerostomia, Diarrhea ORPHA:228371
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Small for gestational age, Increased fecal calprotectin level, Feeding difficult... OMIM:619573
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Achalasia ORPHA:436174
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Intestinal carcinoid, Constipation, Protracted diarrhea, Abnormal bowel sounds, An... ORPHA:100079
Celiac Disease, Susceptibility To, 1
Weight loss, Type I diabetes mellitus, Recurrent aphthous stomatitis, Abdominal pain, Abdominal d... OMIM:212750
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Hypoglycemia, Small for gestational age, Dorsocervical fat pad, Diabetes m... ORPHA:391408
Campomelia, Cumming Type
Death in infancy, Abnormal intestine morphology, Cleft palate, Prematurely aged appearance ORPHA:1318
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive ORPHA:73272
Ogden Syndrome
Minimal subcutaneous fat, High palate, Cutis laxa, Facial wrinkling, Redundant skin OMIM:300855
Hereditary Fructose Intolerance
Nausea, Constipation, Jaundice, Reactive hypoglycemia, Abdominal pain, Abdominal distention, Chro... ORPHA:469
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Failure to thrive, Esophageal stricture, Chronic diarrhea OMIM:613989
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Abnormal salivary gland morphology, Decreased body weight, Fas... ORPHA:2298
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Reduced subcutaneous adipose tissue, Cutis laxa, Failure to thrive, ... ORPHA:2963
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Arthrogryposis Multiplex Congenita 5
Death in infancy, Gastrostomy tube feeding in infancy, Premature skin wrinkling OMIM:618947
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Diabetes mellitus, Diarrhea, Type I diabetes mellitus, Vomiting OMIM:560000
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Weight loss, Constipation, Anorexia, Failure to thri... ORPHA:361
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Dysphagia ORPHA:1332
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Gastroesophageal reflux, Abnormality of subcutaneous fat tissue, Esophagitis, Exce... ORPHA:1901
Typhoid
Constipation, Abdominal pain, Diarrhea, Gastrointestinal hemorrhage ORPHA:99745
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Small for gestational age, Prematurely aged appearance, Gastroesophageal reflux, Pro... ORPHA:2959
Yao Syndrome
Abdominal pain, Xerostomia, Weight loss, Diarrhea OMIM:617321
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Failure to thrive, Diarrhea, Vomiting OMIM:264350
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Diarrhea ORPHA:277
Immunodeficiency 14B, Autosomal Recessive
Colitis, Chronic diarrhea, Inflammation of the large intestine OMIM:619281
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Reduced subcutaneous adipose tissue, Prematurely aged appearance OMIM:248010
Sotos Syndrome
High palate, Neonatal hypoglycemia, Gastroesophageal reflux, Feeding difficulties, High, narrow p... OMIM:117550
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Constipation, Recurrent hypoglycemia, Gastroeso... ORPHA:813
Immunodeficiency 22
Failure to thrive, Diarrhea OMIM:615758
Galactosemia
Hepatic failure, Feeding difficulties, Jaundice, Failure to thrive, Diarrhea, Vomiting ORPHA:352
Lassa Fever
Jaundice, Miscarriage, Abdominal pain, Nausea and vomiting, Dysphagia, Diarrhea ORPHA:99824
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Hypoketotic hypoglycemia, Diarrhea OMIM:255120
Hypotonia-Cystinuria Syndrome
Feeding difficulties in infancy, Failure to thrive, Neonatal hypoglycemia OMIM:606407
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Esophageal varix, Failure to thrive, Hepatocellular carcinoma, Hepatocellul... ORPHA:370
Microscopic Polyangiitis
Cutis marmorata, Gastrointestinal hemorrhage, Peritonitis, Erythema, Abdominal pain, Nausea and v... ORPHA:727
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Urticaria, Diarrhea OMIM:615399
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Cutis marmorata, Hamartomatous polyposis, Cachexia, Abnormal large intestine morpho... ORPHA:109
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Enterocolitis, Abnormal intestine morphology, Villous atrophy, Diarrhea... ORPHA:391487
Hepatocellular Carcinoma
Hypoglycemia, Weight loss, Anorexia, Jaundice, Esophageal varix, Abdominal pain, Abdominal disten... ORPHA:88673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Obesity, Feeding difficulties, Jaundice, Overweight, Hypoketotic hypog... ORPHA:26793
Erythermalgia, Primary
Constipation, Xerostomia, Diarrhea OMIM:133020
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Failure to thrive, Excessive wrinkled skin, Oral leukoplakia ORPHA:3322
Methanol Poisoning
Abdominal pain, Type II diabetes mellitus, Diarrhea, Type I diabetes mellitus, Vomiting ORPHA:31825
Congenital Disorder Of Glycosylation, Type Iie
Hypoglycemia, Gastroesophageal reflux, Feeding difficulties, Decreased liver function, Jaundice, ... OMIM:608779
Whipple Disease
Gastrointestinal hemorrhage, Insulin resistance, Anorexia, Abdominal pain, Malabsorption, Cachexi... ORPHA:3452
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Feeding difficulties, Diarrhea, Vomiting OMIM:177735
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Immunodeficiency 46
Failure to thrive, Chronic diarrhea OMIM:616740
Cold Agglutinin Disease
Pallor, Nausea and vomiting, Diarrhea ORPHA:56425
Down Syndrome
Prematurely aged appearance, Obesity, Aganglionic megacolon, Anal atresia, Macroglossia, Type II ... ORPHA:870
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphocytic infiltration of the colorectal mucosa, Atrophic gastritis, Diarrhea OMIM:616100
Pituitary Stalk Interruption Syndrome
Death in infancy, Failure to thrive, Hypoglycemia ORPHA:95496
Vipoma
Subcutaneous lipoma, Weight loss, Erythema, Anorexia, Neoplasm of the liver, Abnormal gastrointes... ORPHA:97282
Galactosemia I
Failure to thrive, Decreased liver function, Diarrhea, Vomiting OMIM:230400
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Dry skin, Perioral erythema, Failure to thrive, Diarrhea, Poor appetite OMIM:201100
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Severe failure to thrive, Abdominal distention, Postprand... OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Bruising susceptibility, Chronic diarrhea OMIM:619484
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Colonic Atresia
Colonic atresia, Abdominal distention, Duodenal stenosis, Peptic ulcer ORPHA:1198
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Failure to thrive, Death... OMIM:614576
Maple Syrup Urine Disease
Feeding difficulties in infancy, Hypoglycemia, Vomiting OMIM:248600
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Weight loss, Anorexia, Neoplasm of the liver, Abdominal distention, Intermittent jaundice... ORPHA:100085
Smith-Kingsmore Syndrome
Large for gestational age, Hypoglycemia, Feeding difficulties OMIM:616638
Inhalational Botulism
Constipation, Nausea and vomiting, Xerostomia, Diarrhea ORPHA:254504
Acute Adrenal Insufficiency
Hypoglycemia, Weight loss, Dry skin, Constipation, Anorexia, Abdominal pain, Nausea and vomiting,... ORPHA:95409
Cockayne Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cutaneous photosensitivity, Gastrostomy... ORPHA:191
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Cutaneous photosensitivity, Cutis marmorata, Progeroid facial appearance OMIM:300953
Ebola Hemorrhagic Fever
Nausea, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Melena, Poor appetite, Diarrhea, ... ORPHA:319218
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Decreased body weight, Malnutrition, Diarrhea, Type I diabetes mellitus ORPHA:96180
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Cutaneous photosensitivity, Chronic diarrhea, Malabsorption, Telangiec... OMIM:601675
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Colonic stenosis, Peritonitis, Intussusception, Acute co... ORPHA:90038
Keppen-Lubinsky Syndrome
High palate, Failure to thrive, Progeroid facial appearance, High, narrow palate OMIM:614098
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, High palate, Hypoglycemia, Nonketotic hypoglycemia, Death in inf... OMIM:608836
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Feeding difficulties in infancy, Hypoglycemic seizures, Hypoketotic hypoglycemia, Fulminant hepat... OMIM:231530
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Hypoglycemia, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis ORPHA:457279
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia, Feeding difficulties, Vomiting OMIM:210210
Pseudoxanthoma Elasticum
High palate, Bruising susceptibility, Gastrointestinal hemorrhage, Striae distensae, Telangiectas... ORPHA:758
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Colitis, Abdominal pain, Abdominal distention, Di... ORPHA:309031
Specific Granule Deficiency 2
Intractable diarrhea, Death in infancy, Failure to thrive, Death in childhood OMIM:617475
Neonatal Inflammatory Skin And Bowel Disease
Bloody diarrhea, Erythema, Recurrent gastroenteritis, Scaling skin, Anal fissure, Generalized abn... ORPHA:294023
Werner Syndrome
Premature graying of hair, Gastrointestinal carcinoma, Insulin resistance, Prematurely aged appea... ORPHA:902
Immunodeficiency 58
Cold urticaria, Helicobacter pylori infection, Colitis, Psoriasiform lesion, Cutaneous photosensi... OMIM:618131
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Recurrent hypoglycemia, Prominent superficial veins OMIM:616817
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Jaundice, Abdominal pain, Failure to thrive, Recurrent gas... ORPHA:39812
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Tracheoesophageal fistula, Abnormal intestine morphology, Cleft palate ORPHA:1848
Immunodeficiency 27A
Weight loss, Anorexia, Diarrhea OMIM:209950
Lysosomal Acid Lipase Deficiency
Hepatic failure, Weight loss, Fatal liver failure in infancy, Decreased liver function, Feeding d... ORPHA:275761
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Cutis marmorata, Chronic diarrhea, Failure to thrive in infancy OMIM:301220
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Hyperphosphatemia, Polyuria, And Seizures
Diarrhea, Vomiting OMIM:239350
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Feeding difficulties in infancy, Fasting hypoglycemia, Insulin resistance, Small for gestational ... ORPHA:96182
Bannayan-Riley-Ruvalcaba syndrome
Hematochezia, High palate, Hypoglycemia, Angiokeratoma, Intussusception, Hamartomatous polyposis OMIM:153480
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Silver-Russell Syndrome 1
Hepatocellular carcinoma, Fasting hypoglycemia, Small for gestational age OMIM:180860
Mungan Syndrome
Hypoperistalsis, Intestinal pseudo-obstruction, Barrett esophagus, Megaduodenum OMIM:611376
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Prominent superficial veins OMIM:602249
Keppen-Lubinsky Syndrome
High palate, Failure to thrive, Premature skin wrinkling, Progeroid facial appearance ORPHA:435628
Immunodeficiency 60 And Autoimmunity
Colitis, Crohn's disease, Chronic diarrhea, Ulcerative colitis OMIM:618394
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Hepatic failure, Chronic di... OMIM:615207
Waldenström Macroglobulinemia
Cutis marmorata, Gastrointestinal hemorrhage, Urticaria, Anorexia, Malabsorption, Pallor, Purpura... ORPHA:33226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Nausea, Weight loss, Urticaria, Flushing, Abdominal pain, Pallor, Peptic ulcer, Diarrhea ORPHA:98849
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Failure to thrive, Hypoglycemia, Feeding difficulties OMIM:618005
Fructose Intolerance, Hereditary
Glycosuria, Nausea, Hypoglycemia, Gastrointestinal hemorrhage, Jaundice, Abdominal pain, Failure ... OMIM:229600
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Nausea, Penetrating foot ulcers, Chronic diarrhea, Vomiting OMIM:118230
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Feeding difficulties, Reduced subcutaneous adipose tissue, Failure to thri... OMIM:264090
Deeah Syndrome
Exocrine pancreatic insufficiency, High palate, Narrow palate, Decreased body weight, Neonatal hy... OMIM:619004
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence, Weight... ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Feeding difficulties OMIM:618241
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Juvenile Polyposis Syndrome
Hematochezia, Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Mucosal telang... ORPHA:2929
Carcinoid Syndrome
Intestinal carcinoid, Protracted diarrhea, Nausea and vomiting, Small intestine carcinoid, Facial... ORPHA:100093
Mastocytosis
Gastrointestinal hemorrhage, Angioedema, Urticaria, Anorexia, Telangiectasia of the skin, Nausea ... ORPHA:98292
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Hypoglycemia ORPHA:156
Cog4-Cdg
Intermittent diarrhea, Failure to thrive in infancy, Fatal liver failure in infancy, Feeding diff... ORPHA:263501
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Prolonged neonatal jaundice ORPHA:199296
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Diarrhea, Recurrent aphthous stomatitis OMIM:150550
Tenorio Syndrome
Hypoglycemia, Gastroesophageal reflux, Macroglossia, Stomatitis, Hypoinsulinemia OMIM:616260
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Vomiting OMIM:201450
Familial Mediterranean Fever
Oral leukoplakia, Constipation, Peritonitis, Erythema, Acute hepatic failure, Abdominal pain, Nau... ORPHA:342
Orthostatic Hypotension 1
High palate, Neonatal hypoglycemia OMIM:223360
Acth Deficiency, Isolated
Fasting hypoglycemia, Jaundice OMIM:201400
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Excessive wrinkled skin, Cutis laxa OMIM:614438
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Cardiofaciocutaneous Syndrome
Feeding difficulties in infancy, High palate, Abnormality of the gastrointestinal tract, Dry skin... ORPHA:1340
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Reye syndrome-like episodes, Feeding difficulties, Dyspha... ORPHA:26791
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, ... ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Vomiting OMIM:600649
Mitochondrial Dna Depletion Syndrome 11
Nausea, Diarrhea OMIM:615084
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Failure to thrive, Diarrhea, Steatorrhea OMIM:617941
Hutchinson-Gilford Progeria Syndrome
Cyanosis, High palate, Weight loss, Insulin resistance, Prominent superficial blood vessels, Seve... ORPHA:740
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Abdominal pain, Recurrent infection of the gastrointestinal tract,... ORPHA:486
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Villous atrophy, Diarrhea, Vomiting ORPHA:79328
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea ORPHA:54057
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Nonketotic hypoglycemia, Recurrent hypoglycemia, Anorexia, Reye syndrome-like episod... ORPHA:20
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905