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Gene: Gucy2c MGI:106903

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Gene Summary

Name:
guanylate cyclase 2c
Synonyms:
GC-C

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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.

Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Gucy2c 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 Gucy2c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665

The table below shows human diseases predicted to be associated to Gucy2c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Overgrowth, Polyphagia, Red hair OMIM:620195
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Diarrhea, Chronic diarrhea OMIM:614102
Lactose Intolerance, Adult Type
Lactose intolerance, Abdominal pain, Diarrhea, Flatulence OMIM:223100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... ORPHA:79084
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Reduced subcutan... OMIM:612526
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbi... OMIM:608594
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thrive secondary... OMIM:608971
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial infections, Recurrent... OMIM:613501
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Rabies
Anorexia, Diarrhea, Nausea and vomiting, Recurrent pharyngitis ORPHA:770
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, H... OMIM:269700
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis OMIM:614379
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Aggressive ... ORPHA:261229
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism, Hypopigmentation of hair ORPHA:177910
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hypertrophi... ORPHA:528
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... OMIM:300942
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Hypopigmentation of hair ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra... OMIM:619048
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitu... OMIM:606069
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes... OMIM:615980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... OMIM:616033
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... OMIM:620357
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow ORPHA:171829
Immunodeficiency 19
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea OMIM:615617
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Hepatic steatosis, Insulin resistance ORPHA:79087
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hirschsprung Disease
Diarrhea, Sepsis, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Inte... ORPHA:388
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Polyphagia, Skin-picking, Cam... OMIM:615547
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea OMIM:610370
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Ethanolaminosis
Cardiomegaly OMIM:227150
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Hirsutism, Decreased body weight, Polyphagia OMIM:300804
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent bacterial ... OMIM:612692
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Generalized lipodystroph... ORPHA:79086
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Cardiomyopathy ORPHA:26792
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Failure to thrive, Graves di... ORPHA:525731
Brunner Syndrome
Diarrhea OMIM:300615
Dracunculiasis
Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation ORPHA:231
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea OMIM:223000
Diarrhea 9
Diarrhea OMIM:618168
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypertrichos... OMIM:262190
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Long eyelashes, Polypha... OMIM:606407
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of fac... ORPHA:79083
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepa... ORPHA:79237
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Gen... ORPHA:2348
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections OMIM:608957
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated ... OMIM:212140
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:274300
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Obesity, Partial atrioventricular canal defect, Hepatic ste... OMIM:615996
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic diarrhea, Chronic oral candidiasis OMIM:616740
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Immunodeficiency 15B
Recurrent infections, Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Breast hypoplasia, Gluc... ORPHA:785
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis... ORPHA:79319
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Diarrhea, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain, Colitis, Recurrent ... OMIM:613960
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... ORPHA:398069
Luscan-Lumish Syndrome
High anterior hairline, Obesity, Hirsutism, Overgrowth, Polyphagia, Aggressive behavior OMIM:616831
Cebalid Syndrome
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia OMIM:618774
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopat... ORPHA:70472
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Hepatic steatosis, Attention deficit hyperactivity disorder, Multiple lipomas,... ORPHA:210548
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Hypertrichosis, Cholestasis, Hy... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... OMIM:608612
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... ORPHA:397941
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac... ORPHA:2494
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Chronic constipation, Episodic abdominal pain, Abdominal pain, Intermitte... ORPHA:209964
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Immunodeficiency, Common Variable, 7
Recurrent infections, Chronic diarrhea, Recurrent respiratory infections, Recurrent urinary tract... OMIM:614699
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Premat... ORPHA:280365
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Recurrent upper respiratory tract infections, Vomiting OMIM:620137
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyper... ORPHA:189427
Folate Malabsorption, Hereditary
Recurrent infections, Diarrhea, Malabsorption, Feeding difficulties in infancy OMIM:229050
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease OMIM:615561
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Failure to thrive in infancy, Dec... OMIM:176270
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Recurrent can... ORPHA:169160
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... ORPHA:71212
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... OMIM:615767
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... OMIM:248370
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... OMIM:615363
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:240500
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Enlarged kidney ORPHA:251004
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H... OMIM:602579
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabe... OMIM:615981
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis OMIM:619164
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Recurrent respiratory infections, Recurrent otitis media, R... OMIM:615207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Diarrhea, Failure to thrive secondary to recurrent infections OMIM:601457
Seckel Syndrome 10
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Elevated circulating luteinizing... OMIM:617253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Abdominal colic OMIM:615863
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Coproporphyria, Hereditary
Abdominal pain, Vomiting, Diarrhea, Constipation OMIM:121300
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis,... OMIM:607594
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ... OMIM:231530
Reticular Dysgenesis
Diarrhea, Recurrent respiratory infections, Sepsis, Malabsorption ORPHA:33355
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Fair hair, Delayed menarche, Obesity, Ina... ORPHA:72
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Re... OMIM:620449
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Recurrent aphthous stomatitis, Recurrent infections, Chronic oral ... OMIM:150550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis med... ORPHA:277
Inflammatory Bowel Disease (Crohn Disease) 30
Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea OMIM:619079
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated c... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Immunodeficiency 48
Recurrent respiratory infections, Chronic diarrhea, Recurrent candida infections OMIM:269840
Trisomy 18P
Attention deficit hyperactivity disorder, Highly arched eyebrow, Polyphagia ORPHA:1715
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... ORPHA:209902
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Glucose intole... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... OMIM:614582
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Recurrent bronchiolitis OMIM:616069
Dysbetalipoproteinemia
Acute pancreatitis, Obesity, Xanthelasma, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia... ORPHA:412
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Ventricu... ORPHA:254346
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Recurrent respiratory infections, Diarrhea, Recurrent urinary tract infec... OMIM:618495
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Hepatic Veno-Occlusive Disease
Increased body weight, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:890
Enterokinase Deficiency
Diarrhea OMIM:226200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep... OMIM:619013
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Cog7-Cdg
Recurrent infections, Diarrhea, Feeding difficulties ORPHA:79333
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Chronic diarrhea OMIM:615285
Alstrom Syndrome
Alopecia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Insuli... OMIM:203800
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, C... ORPHA:70475
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Dec... ORPHA:444490
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Recurrent respiratory infections, Vomiting, Feeding difficulties in infancy OMIM:264350
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... OMIM:615830
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe... ORPHA:572
Erythroderma Desquamativum
Diarrhea ORPHA:314
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79457
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition OMIM:619971
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Highly arched eyebrow, Bruxism, Long eyelashes, Thick eyebrow, Inappropr... OMIM:156200
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Immunodeficiency 57 With Autoinflammation
Diarrhea, Recurrent respiratory infections, Inflammation of the large intestine, Gastritis OMIM:618108
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Vascular Hyalinosis
Hematochezia, Diarrhea, Malabsorption OMIM:277175
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Mucopolysaccharidosis, Type Iiib
Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomeg... OMIM:252920
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hepatic ... ORPHA:91
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Diarrhea, Chronic mucocutaneous candidiasis, Severe recurrent varicella, Recurrent cutane... ORPHA:276
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:90035
Isolated Agammaglobulinemia
Diarrhea, Sepsis, Malabsorption, Recurrent respiratory infections, Recurrent cutaneous abscess fo... ORPHA:229717
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite ORPHA:352447
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Adrenocortical Carcinoma
Increased circulating cortisol level, Hypertrichosis, Hyperaldosteronism, Increased urinary corti... ORPHA:1501
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Diarrhea, Recurrent upper respiratory tract infections, Recurrent candida i... OMIM:614069
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... ORPHA:860
Smith-Magenis Syndrome
Head-banging, Abnormal heart morphology, Abnormality of the thyroid gland, Onychotillomania, Self... OMIM:182290
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Vomiting, Nausea, Melena, Abdominal pain, Dysphagi... ORPHA:319218
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Long eyela... OMIM:619064
Immunodeficiency 7
Recurrent otitis media, Recurrent respiratory infections, Diarrhea, Chronic oral candidiasis OMIM:615387
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Self-injurious behavior, Horizontal eyebrow, Sparse anterior scalp hair, O... ORPHA:96121
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Chylomicron Retention Disease
Diarrhea, Steatorrhea, Vomiting, Malnutrition OMIM:246700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... ORPHA:911
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Fine hair, Self-mutilation, Ventricular septal defect, Polyphagia, Aggressive behav... ORPHA:251028
Foxp1 Syndrome
Failure to thrive, Abnormal heart morphology, Frontal upsweep of hair, Attention deficit hyperact... ORPHA:391372
Autosomal Dominant Severe Congenital Neutropenia
Recurrent viral infections, Diarrhea, Recurrent aphthous stomatitis, Recurrent infection of the g... ORPHA:486
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Alopecia, Elevated circulating hepatic transaminase concentration, Ins... ORPHA:2959
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Acute hepa... OMIM:256810
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Mitral valve prolapse, Low posterior hairline, Sparse facial hair, Absent facial hair, A... ORPHA:2183
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Leukocyte Adhesion Deficiency, Type I
Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent gram-negative bacterial infections... OMIM:116920
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Recurrent fungal infections, Chronic diarrhea, Chronic oral candidiasis OMIM:300400
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea ORPHA:309108
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Tall stature, Inguinal hernia, Mitral valve prolapse, Hepatic steatosis, Pancr... OMIM:236200
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, C... OMIM:212138
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Nausea and vomiting, Anore... ORPHA:90045
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality, Subvalvular aorti... ORPHA:3191
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Premature... ORPHA:79474
1P36 Deletion Syndrome
Self-injurious behavior, Dilated cardiomyopathy, Horizontal eyebrow, Failure to thrive, Annular p... ORPHA:1606
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Failure to thrive, Cholestasis, Hepatic steatosis... OMIM:614300
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... ORPHA:858
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, In... ORPHA:404448
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100082
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... OMIM:619487
Weaver Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Overgrowth, Polyphag... OMIM:277590
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Ventr... OMIM:615630
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... ORPHA:508
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Inflammation of the large intestine, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Failure to thrive, Abnormal heart morphology, Bruxism, Obesity, Decreased... OMIM:615873
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Monosomy 13Q34
Insulin resistance, Horizontal eyebrow, Obesity, Hepatic steatosis, Common atrium, Pulmonic stenosis ORPHA:96168
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Diarrhea, Recurrent urinary tract infections, Recurrent candida infections, Recurrent inf... ORPHA:83471
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Mitral valve prolapse, Low posterior hairline, Abnormal hair quantity ORPHA:2233
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Recurrent respiratory infecti... OMIM:613489
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:99901
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... OMIM:619418
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea OMIM:618523
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Infantile Sialic Acid Storage Disease
Fair hair, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Decreased liver func... OMIM:617093
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, S... ORPHA:465508
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypoth... OMIM:616263
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Autosomal Agammaglobulinemia
Diarrhea, Sepsis, Recurrent respiratory infections, Malabsorption, Recurrent infections ORPHA:33110
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Eosinophilic Gastroenteritis
Hematochezia, Diarrhea, Vomiting, Malabsorption, Steatorrhea, Abdominal pain, Dysphagia ORPHA:2070
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion,... OMIM:614702
Alg1-Cdg
Recurrent infections, Sepsis, Chronic diarrhea, Decreased liver function ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Malabsorption, Intestinal obstruction, Abdominal pain, Recurrent lower respir... OMIM:226300
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Pyoderma, Recurrent bronchopulmonary infections,... OMIM:242700
Immunodeficiency 115 With Autoinflammation
Recurrent bacterial infections, Intermittent diarrhea, Recurrent viral infections OMIM:620632
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, El... OMIM:608836
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Elevated ... OMIM:620609
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Sepsis, Crohn's disea... OMIM:616100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Chronic mucocutaneous ca... ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding difficulties, Poor suck OMIM:617788
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive OMIM:614096
Central Diabetes Insipidus
Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Failure to thrive ORPHA:977
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Diarrhea, Recurrent enteroviral infections, Recurrent urinary tract infections, Recurrent otitis ... OMIM:307200
Cog4-Cdg
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... ORPHA:263501
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Obesity, Stereotypical hand wringing, Skin-pickin... OMIM:600430
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... ORPHA:391673
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections OMIM:618882
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea OMIM:615399
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair, Enamel hypoplasia OMIM:613576
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Car... OMIM:212065
Fucosidosis
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Hepatomegaly, Li... ORPHA:349
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, ... ORPHA:401923
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... ORPHA:98908
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hyperch... OMIM:615812
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Failure to thrive in infancy, Cholestasis, Hypoketotic hypoglycemia, Left ventric... ORPHA:746
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Muscular ventric... ORPHA:66634
Mitochondrial Dna Depletion Syndrome 11
Nausea, Recurrent infections, Chronic diarrhea OMIM:615084
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Chronic... OMIM:616433
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Caspase 8 Deficiency
Chronic diarrhea, Recurrent sinopulmonary infections OMIM:607271
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Hypogonadism, Obesity, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Precocious puberty, Hirsutism OMIM:604931
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Situs inversus totalis OMIM:615985
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Diarrhea, Gastritis ORPHA:2575
Lassa Fever
Diarrhea, Sepsis, Nausea and vomiting, Abdominal pain, Dysphagia ORPHA:99824
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Obesity, Congenital hypothyroidism, Hyperactivity, Red hair, Diabetes mellitus OMIM:614613
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Impulsivity, Synophrys ORPHA:589905
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic steatosis, Car... ORPHA:228308
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Trichohepatoenteric Syndrome 2
Colitis, Diarrhea, Chronic diarrhea, Bloody diarrhea OMIM:614602
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Anorex... ORPHA:100080
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Reye syndrome-like episodes, Nausea, Feeding difficulties, Poor appetite ORPHA:927
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly OMIM:619273
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Pancreatoblastoma
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism, Hypercholesterolemia, Abnor... ORPHA:77296
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Sepsis, Feeding difficulties ORPHA:79239
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Hypot... ORPHA:445038
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Recurrent sinopulmonary infections, Colitis, Chronic diarrhea, Ulcerative colitis OMIM:618394
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel... OMIM:603041
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Large for gestational age, Long eyela... OMIM:239850
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardio... ORPHA:98907
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Omenn Syndrome
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections OMIM:603554
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Recurrent upper respiratory tract infect... ORPHA:436159
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Cutaneous Mastocytoma
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79455
Pearson Syndrome
Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnormal hear... ORPHA:699
Alström Syndrome
Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Ty... ORPHA:64
Typhoid
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Constipation ORPHA:99745
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain ORPHA:100924
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Nasogastric tube feeding ORPHA:289504
Hsd10 Disease, Infantile Type
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Dysphagia, Restlessness, Paroxysmal burs... ORPHA:391428
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Cardiomyopathy ORPHA:52430
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Abnormal hair whorl, Nail dystrophy, Hirsutism, Increased body weight, L... OMIM:300860
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... OMIM:618329
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Chromosome 1P36 Deletion Syndrome, Distal
Abnormality of the hairline, Ventricular septal defect, Bicuspid aortic valve, Polyphagia, Atrial... OMIM:607872
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Bicuspid ... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Bicuspid ... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Bicuspid ... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Low posterior hairline, Bicuspid ... ORPHA:881
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea ORPHA:54057
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Sotos Syndrome
Sparse eyebrow, High anterior hairline, Muscular ventricular septal defect, Tall stature, Glucose... OMIM:117550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegal... ORPHA:436271
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of endocrine pan... ORPHA:93111
Immunodeficiency 25
Protracted diarrhea, Recurrent pneumonia, Recurrent candida infections OMIM:610163
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent infections, Chronic diarrhea, Recurrent pneumonia OMIM:619824
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Recurrent hypogl... ORPHA:20
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large for gestational age, Ventricular septal defect... ORPHA:254534
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain OMIM:176000
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 22
Recurrent upper respiratory tract infections, Diarrhea, Protracted diarrhea, Recurrent lower resp... OMIM:615758
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricul... OMIM:619991
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:1842
Mulibrey Nanism
Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... ORPHA:163681
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Malabsorption, Anorexia, Abdominal pain OMIM:175500
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Abdominal pain, Dysphagia ORPHA:589821
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Feeding difficulties OMIM:177735
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly OMIM:256550
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Hirsutism OMIM:184700
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Episodic... ORPHA:100075
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit... ORPHA:67
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... ORPHA:79259
Aa Amyloidosis
Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea ORPHA:85445
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hypertr... ORPHA:17
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Immunodeficiency 69
Diarrhea OMIM:618963
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Chronic diarrhea, Nausea and vomiting, Anorexia ORPHA:65682
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... ORPHA:3464
Nk-Cell Enteropathy
Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain ORPHA:263665
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties ORPHA:79101
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Hypertrophic cardiomyopathy, Long eyelashes, Splenomegaly, Low anterior hairline, Lo... OMIM:617303
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Decreased liver function, Hepatic steatosis, Cardiomyopathy OMIM:614922
Timothy Syndrome
Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... OMIM:601005
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... ORPHA:555874
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Recurrent urinary tract infections, Episodic abdominal pain, Constipation, An... ORPHA:361
Immunodeficiency 85 And Autoimmunity
Vomiting, Recurrent respiratory infections, Chronic diarrhea, Tube feeding OMIM:619510
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Ventricular septal de... OMIM:620330
Steinert Myotonic Dystrophy
Insulin resistance, Alopecia, Dilated cardiomyopathy, Cholelithiasis, Elevated circulating hepati... ORPHA:273
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Recurrent infections due to aspiration, Feeding diff... OMIM:223900
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... ORPHA:778
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatic failure, Diarrhea OMIM:235555
Immunodeficiency 36 With Lymphoproliferation
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent upper res... OMIM:616005
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Abdominal pain, Diarrhea, Nausea and vomiting ORPHA:36412
Immunodeficiency 58
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:618131
Immunodeficiency 17
Recurrent otitis media, Recurrent gastroenteritis, Recurrent respiratory infections, Chronic diar... OMIM:615607
Wilson Disease
Hepatic failure, Chondrocalcinosis, Portal fibrosis, Glycosuria, Acute hepatic failure, Elevated ... OMIM:277900
Immunodeficiency 97 With Autoinflammation
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Colitis, Enterocolitis, Rec... OMIM:619802
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Addictive alcohol use, Cirrh... ORPHA:57777
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Feeding difficulties OMIM:250940
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:618620
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Precocious puberty, Failure to thrive, Umbilical hernia, Abnormal heart ... ORPHA:261652
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Failure to thrive, Decreased liver function, Hypertrophic cardiomyopathy, Increased i... OMIM:220110
Good Syndrome
Recurrent respiratory infections, Diarrhea, Dysphagia, Recurrent urinary tract infections ORPHA:169105
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... ORPHA:26793
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting ORPHA:56425
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Legionnaires Disease
Diarrhea, Sepsis, Nausea and vomiting, Recurrent pharyngitis, Anorexia, Abdominal pain ORPHA:549
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyp... ORPHA:14
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea OMIM:300215
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Diarrhea, Recurrent bacterial infections, Recurrent lower respiratory tract infections, S... OMIM:308230
Graft Versus Host Disease
Diarrhea, Vomiting, Recurrent gastroenteritis, Nausea, Gastrointestinal inflammation, Abdominal p... ORPHA:39812
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Primary ... OMIM:261515
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Protracted diarrhea, Recurrent fung... ORPHA:331206
Immunodeficiency 114, Folate-Responsive
Recurrent lower respiratory tract infections, Chronic diarrhea OMIM:620603
Angelman Syndrome Due To A Point Mutation
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:411511
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:619525
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Cronkhite-Canada Syndrome
Abdominal pain, Diarrhea, Malabsorption, Anorexia ORPHA:2930
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Retroperitoneal fibrosis, Pancreatic hypoplasia, Camptodactyly of finge... OMIM:602782
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea OMIM:252900
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Generalized lipodystroph... OMIM:619127
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Galactosemia I
Vomiting, Diarrhea, Decreased liver function OMIM:230400
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Malabsorption, Chronic diarrhea, Recurrent cutaneous abscess formation ORPHA:47
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Decreased liver function, Abdominal distention OMIM:608104
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abdominal pain ORPHA:79456
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Thick eyebrow, Aggressive behavior, Atrial se... ORPHA:404443
Immunodeficiency 27A
Diarrhea, Anorexia OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Shigellosis
Hepatic failure, Sepsis, Vomiting, Tenesmus, Ulcerative colitis, Acute colitis, Paralytic ileus, ... ORPHA:810
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea OMIM:142680
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Snakebite Envenomation
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis ORPHA:449285
Dengue Fever
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting ORPHA:99828
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Anorexia, Abdomin... ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614924
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Chronic constipati... OMIM:301074
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Selective Igm Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent respiratory ... ORPHA:331235
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Enterocolitis, Secretory diarrhea, Episodic vomiting OMIM:616050
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Tall stature, Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue, Hirsutism, Cardiome... ORPHA:2463
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Rec... OMIM:102700
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Diarrhea, Dysphagia OMIM:252930
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Poor appetite, Recurrent candida infections OMIM:201100
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism OMIM:616629
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Abnormal heart morphology, Obesity, Congenital diaphragmatic hernia, Abnormal ... ORPHA:261197
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Recurrent pneumonia, Recurrent upper respiratory tract infections, Diarrhea, Chron... OMIM:147060
Boutonneuse Fever
Abdominal pain, Diarrhea, Nausea ORPHA:83313
Hyper-Igd Syndrome
Diarrhea, Vomiting, Abdominal pain, Recurrent infections, Chronic diarrhea, Chronic oral candidiasis OMIM:260920
Immunodeficiency 9
Recurrent aphthous stomatitis, Recurrent infections, Chronic diarrhea, Stomatitis OMIM:612782
Macrocephaly/Autism Syndrome
Coarse hair, Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Obesity, Thick eyebrow, Hirsutism, Inc... ORPHA:247768
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Failure to thrive ORPHA:99931
American Trypanosomiasis
Abdominal pain, Abnormal large intestine physiology, Diarrhea, Achalasia ORPHA:3386
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Congenital Disorder Of Glycosylation, Type Id
Vomiting, Diarrhea OMIM:601110
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Sepsis, Inflammation of the large intestine, Recurrent r... OMIM:614700
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hepatic failure, Diarrhea, Fat malabsorption OMIM:607765
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Ventricular septal defect, Decreased body weight, Bicuspid aortic valve, Tics,... OMIM:619475
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections, Recurren... OMIM:606367
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Hypertrichosis, Abnormal heart valve morphology, Large for gestational age... ORPHA:363705
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Obesity, Abnormal cardiac atrium morphology, Abnormality of thyroid physi... ORPHA:563
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Decreas... OMIM:613658
Avian Influenza
Diarrhea, Abdominal pain, Vomiting, Sepsis ORPHA:454836
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Situs inversus totalis, Dextrocardia OMIM:615994
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect... OMIM:619573
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections... ORPHA:221139
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Glycosuria, Failure to thrive, Hypoglyce... OMIM:229600
Adiposis Dolorosa
Diarrhea, Xerostomia, Constipation ORPHA:36397
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Hirsutism, Biliary tract abnormality... OMIM:209900
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Intestinal inflammation OMIM:619858
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia OMIM:617321
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atres... OMIM:220111
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Malabsorption, Abdominal distention, Steatorrhea, Chronic diarrhea ORPHA:92050
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Hypoactive bowel sounds, Nausea and vomiting, Mechanical il... ORPHA:100079
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption OMIM:601847
Bloom Syndrome
Hepatic steatosis, Type II diabetes mellitus, Small for gestational age, Hypertrichosis OMIM:210900
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Recurrent lower respiratory tract infections, Recurrent pneumonia, Intermi... OMIM:619644
Ogden Syndrome
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Jaundice, Minimal subcuta... OMIM:300855
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Dysphagia... OMIM:608013
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased serum leptin, Nail dystrophy, Sparse eyela... OMIM:614008
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea OMIM:560000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Intestinal obstruction, Rec... OMIM:600802
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ca... ORPHA:110
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Mogs-Cdg
Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, Left ventricula... ORPHA:79330
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... OMIM:300755
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Ventricula... OMIM:619503
Trichothiodystrophy 5, Nonphotosensitive
Recurrent infections, Chronic diarrhea OMIM:300953
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cardiomegaly, Overgrowth, Hepa... OMIM:130650
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Immunodeficiency 31C
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Onychomycosis, Rec... OMIM:614162
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Carcinoid Syndrome
Episodic abdominal pain, Lack of bowel sounds, Nausea and vomiting, Protracted diarrhea ORPHA:100093
Late-Onset Isolated Acth Deficiency
Diarrhea, Sepsis, Nausea and vomiting, Constipation, Anorexia, Abdominal pain ORPHA:199299
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Elevated circulating ... OMIM:256040
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Acute hepatic failure, Nausea and vomiting, Abdomi... ORPHA:36426
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Small ... OMIM:616897
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Immunodeficiency 55
Recurrent infections, Diarrhea OMIM:617827
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Vomiting, Diarrhea, Poor appetite ORPHA:542323
Garg-Mishra Progeroid Syndrome
Sparse hair, Microvesicular hepatic steatosis OMIM:620601
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Tetralogy of Fallot, Obesity, Splenomeg... OMIM:188400
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Achalasia, Recurrent bacteri... OMIM:617053
Infantile Systemic Hyalinosis
Malabsorption, Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea ORPHA:2176
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, Chronic oral cand... OMIM:240300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Birth length greater than 97th percentile, Large for gestational age, ... OMIM:300868
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Umbilical hernia, Hypopituit... ORPHA:226307
Shwachman-Diamond Syndrome 2
Steatorrhea, Recurrent infections, Diarrhea, Exocrine pancreatic insufficiency OMIM:617941
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Alg8-Cdg
Vomiting, Diarrhea, Feeding difficulties ORPHA:79325
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea ORPHA:411703
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Increased circulating cortisol level, Increased urinary cortisol level, Adrena... ORPHA:99889
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microves... OMIM:618278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cholestasi... ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97278
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Recurrent viral infections, Recurrent infection of the gastrointestinal trac... ORPHA:35078
Fabry Disease
Vomiting, Diarrhea, Tenesmus, Nausea, Abdominal pain OMIM:301500
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... ORPHA:3455
Relapsing Fever
Abdominal pain, Vomiting, Diarrhea ORPHA:91547
B4Galt1-Cdg
Diarrhea ORPHA:79332
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Abdominal pain, Diarrhea, Chronic diarrhea OMIM:617099
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hematochezia, Hepatic failure, Diarrhea OMIM:613812
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Coarse hair, Umbilical hernia, Hypersexuality, Splenomegaly, Abnormal a... ORPHA:581
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea OMIM:619481
Kaposi Sarcoma
Diarrhea ORPHA:33276
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Feeding difficulties OMIM:251000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Colonic eosinophilia, Rec... OMIM:617718
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea ORPHA:3240
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction OMIM:309900
Bacterial Toxic-Shock Syndrome
Diarrhea, Sepsis, Vomiting, Recurrent urinary tract infections, Nausea, Peritonitis, Abdominal pain ORPHA:36234
Aicardi-Goutieres Syndrome 7
Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Weight loss, Hypothyroid... OMIM:615846
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Umbilical hernia, Inappropriate laughter, Inguinal hernia, Multiple joint ... OMIM:618143
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618798
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Abdominal distention, Recurrent lower ... OMIM:620233
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Diarrhea, Gastrointestinal infarctions, Nausea and vomiting, Periton... ORPHA:727
Wiskott-Aldrich Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Diarrhea, Inflammation... OMIM:301000
Angioedema, Hereditary, 1
Abdominal pain, Vomiting, Diarrhea OMIM:106100
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Anorexia, Recurrent infections ORPHA:33226
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Obesity, Hepatosplenomegaly, ... OMIM:301066
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset diabetes of the young,... ORPHA:96149
Arima Syndrome
Hepatic fibrosis, Polydipsia, Hepatic steatosis, Cirrhosis, Hepatomegaly OMIM:243910
Omenn Syndrome
Sepsis, Chronic diarrhea ORPHA:39041
Mevalonic Aciduria
Vomiting, Recurrent infections, Diarrhea OMIM:610377
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Inflammation of the large intestine, Chronic diarrhea OMIM:614576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Malabsorption OMIM:242860
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Sheehan Syndrome
Decreased serum estradiol, Sparse pubic hair, Secondary growth hormone deficiency, Adrenocorticot... ORPHA:91355
Celiac Disease, Susceptibility To, 1
Vomiting, Diarrhea, Recurrent aphthous stomatitis, Abdominal distention, Steatorrhea, Abdominal p... OMIM:212750
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, T... ORPHA:1517
Amyloidosis, Hereditary Systemic 1
Diarrhea, Episodic vomiting, Constipation OMIM:105210
19P13.13 Microdeletion Syndrome
Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, Feeding... ORPHA:357001
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Nausea and vomiting, Anorexia, ... ORPHA:1333
Hereditary Angioedema Type 1
Vomiting, Diarrhea, Nausea, Abdominal pain, Dysphagia ORPHA:100050
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence, Intermittent diarrhea ORPHA:330001
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Exocrine pancreatic insufficiency, Ileus, Recurrent bronchopulmona... OMIM:219700
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea ORPHA:54251
Congenital Analbuminemia
Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Small for gestational age ORPHA:86816
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:301220
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Re... OMIM:613385
Intellectual Developmental Disorder, Autosomal Dominant 68
Attention deficit hyperactivity disorder, Sparse hair, Joint contracture of the 5th finger, Hepat... OMIM:619934
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Recurrent bacterial infections, Abdominal pain... OMIM:615895
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micr... OMIM:203700
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Ventricular s... ORPHA:96191
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... ORPHA:1329
Systemic Capillary Leak Syndrome
Abdominal pain, Diarrhea ORPHA:188
Familial Mediterranean Fever
Diarrhea, Vomiting, Chronic constipation, Crohn's disease, Episodic abdominal pain, Peritonitis, ... OMIM:249100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Eleva... ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Small for gestational age OMIM:613320
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... ORPHA:97283
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Precocious puberty, Failure to thrive, Hypertrophic cardiomyopathy, Hy... OMIM:270400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Vomiting, Secretory diarrhea, Recurrent respiratory infections, Nasogastric tube feeding,... ORPHA:37042
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Nausea ORPHA:100085
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation OMIM:608643
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Anorexia, Abdominal pain ORPHA:3452
Glucagonoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... ORPHA:97280
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Intestinal obstruction, Enterocolitis, Recurrent respiratory infections, Bloody dia... OMIM:243150
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:93552
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Steatorrhea, Abdomina... ORPHA:309031
Beckwith-Wiedemann Syndrome
Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemi... ORPHA:116
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Diarrhea, Vomiting, Intestinal obstruction, Peritonitis, Constipation, Recurrent pharyngitis, Abd... ORPHA:32960
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Sepsis, Chronic diarrhea OMIM:602450
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Abnormal glycosphingolipid metabolism OMIM:268800
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Feeding difficulties ORPHA:427
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97261
Naxos Disease
Sparse eyebrow, Dilated cardiomyopathy, Sparse body hair, Abnormal heart morphology, Right ventri... OMIM:601214
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Anorexia, Abdominal pain ORPHA:139411
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Recurrent apht... ORPHA:29207
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Malabsorption, Chronic diarrhea ORPHA:3217
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Absent hair, Congenital alopecia totalis, Cardiomegaly, Absent eyelashes, Camptod... ORPHA:158687
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Flexion contracture OMIM:619321
Acute Radiation Syndrome
Vomiting, Diarrhea ORPHA:454831
Juvenile Polyposis Syndrome
Hematochezia, Abdominal pain, Diarrhea OMIM:174900
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Vomiting, Recurrent otitis media, Bowel irritability, Crohn's dis... OMIM:619381
Cholera
Vomiting, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps ORPHA:173
Acute Adrenal Insufficiency
Diarrhea, Recurrent acute respiratory tract infection, Nausea and vomiting, Constipation, Anorexi... ORPHA:95409
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Omphalocele OMIM:617022
Autoerythrocyte Sensitization Syndrome
Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea ORPHA:324636
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysmotility, Constipati... ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Episodic vomiting OMIM:618321
Fucosidosis
Failure to thrive, Thick eyebrow, Splenomegaly, Hernia, Cardiomegaly, Hepatomegaly, Flexion contr... OMIM:230000
Congenital Disorder Of Glycosylation, Type Im
Vomiting, Diarrhea OMIM:610768
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Diarrhea, Recurrent otitis media, Tube feeding, Dys... OMIM:252940
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, Feeding difficulties, Constipation OMIM:618050
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Melena OMIM:158310
Riddle Syndrome
Recurrent pneumonia, Diarrhea, Recurrent viral infections, Recurrent sinusitis, Abdominal pain ORPHA:420741
Serotonin Syndrome
Nausea, Hepatic failure, Diarrhea ORPHA:43116
Refractory Celiac Disease
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition ORPHA:398063
Bronchial Neuroendocrine Tumor
Hepatic failure, Protracted diarrhea, Bowel urgency, Anorexia, Poor appetite ORPHA:97287
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea OMIM:256700
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Recurr... OMIM:251260
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Lujo Hemorrhagic Fever
Vomiting, Diarrhea, Nausea, Abdominal cramps, Fulminant hepatitis, Dysphagia, Odynophagia ORPHA:319213
Biotinidase Deficiency
Vomiting, Feeding difficulties in infancy, Diarrhea OMIM:253260
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Dysphagia, Right ventricular hypertrophy ORPHA:268
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea ORPHA:294023
Trichothiodystrophy 1, Photosensitive
Recurrent infections, Malabsorption, Chronic diarrhea, Intestinal obstruction OMIM:601675
Rat-Bite Fever
Diarrhea, Vomiting, Sepsis, Parotitis ORPHA:31205
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Eleva... ORPHA:365
Perlman Syndrome
Visceromegaly, Hypoglycemia, Large for gestational age, Congenital diaphragmatic hernia, Pancreat... OMIM:267000
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Anorexia ORPHA:134
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea OMIM:619313
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... OMIM:300967
Phoar2-Enteropathy Syndrome
Secretory diarrhea OMIM:614441
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79318
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Acute colitis, Peritonitis, Abdominal pain, Bloody diarrhea ORPHA:90038
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea, Abdominal pain, Peritoniti... ORPHA:73263
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, Nausea and vomiting... ORPHA:342
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Gaisböck Syndrome
Obesity, Cholecystitis, Hypercholesterolemia, Hypertriglyceridemia, Overweight, Diabetes mellitus... ORPHA:90041
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Thick eyebrow, Congenital diaphragmatic hernia, Mitral valve prolapse,... OMIM:245600
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsorption, Anorexia, Steatorrhe... OMIM:557000
Infection-Related Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, Nausea, Abdo... ORPHA:544482
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic constipation, Feeding difficulties in infancy, Chronic diarrhea,... ORPHA:500055
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... OMIM:619471
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Splenomegaly, I... OMIM:252500
Turcot Syndrome With Polyposis
Hematochezia, Vomiting, Diarrhea, Nausea, Constipation, Melena, Abdominal pain ORPHA:99818
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Abdominal colic, Malabsorption, Intestinal obstruction, Recurrent ... ORPHA:90363
Ileal Neuroendocrine Tumor
Hepatic failure, Episodic abdominal pain, Nausea, Episodic vomiting, Abnormal bowel sounds, Gastr... ORPHA:100078
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... ORPHA:1359
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties OMIM:618183
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... ORPHA:3427
Transcobalamin Ii Deficiency
Vomiting, Diarrhea OMIM:275350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurr... ORPHA:391487
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Abdominal distention OMIM:270420
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Episodic vomiting OMIM:246450
Trichohepatoneurodevelopmental Syndrome
Gastroesophageal reflux, Decreased liver function, Recurrent otitis media, Exocrine pancreatic in... OMIM:618268
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Fat malabsorption, Malnutrition ORPHA:96180
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Melena, Abdominal pain ORPHA:79076
Mitchell-Riley Syndrome
Diarrhea, Malabsorption OMIM:615710
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Abn... ORPHA:740
Colchicine Poisoning
Nausea, Vomiting, Diarrhea ORPHA:31824
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Hypertrichosis, Cardiomegaly, Severe fa... ORPHA:97297
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hepatomegaly ORPHA:137675
Melas
Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Constipation ORPHA:550
Listeriosis
Diarrhea, Sepsis, Vomiting, Nausea, Peritonitis, Abdominal pain ORPHA:533
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Chronic diar... OMIM:612132
Microsporidiosis
Sepsis, Bronchiolitis, Vomiting, Intermittent diarrhea, Nausea, Peritonitis, Anorexia, Abdominal ... ORPHA:2552
Japanese Encephalitis
Abdominal pain, Vomiting, Diarrhea, Anorexia ORPHA:79139
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Esophagitis, Intestinal obstruction, Episodi... ORPHA:913
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Ileus OMIM:304790
Farber Disease
Recurrent upper respiratory tract infections, Chronic diarrhea, Hepatic failure, Feeding difficul... ORPHA:333
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent gastro... ORPHA:99843
Immunodeficiency 92
Esophagitis, Chronic diarrhea OMIM:619652
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase... OMIM:620376
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Acrodermatitis Enteropathica
Malabsorption, Chronic diarrhea, Poor appetite, Anorexia ORPHA:37
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Diarrhea, Nausea ORPHA:98849
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Malnutrition, Protein avoidance, Nausea OMIM:222700
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Increased muscle glycogen content, Splenomegaly OMIM:232300
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality of connective tissue, Tall stature, Inguinal hernia, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Hepatic sinusoidal dilatation, Long eyelashes, Splenic cyst, Patent forame... OMIM:620371
Primary Intestinal Lymphangiectasia
Abdominal pain, Chronic diarrhea, Functional abnormality of the gastrointestinal tract ORPHA:90362
Dominant Beta-Thalassemia
Diarrhea, Feeding difficulties ORPHA:231226
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Recurrent respiratory infections, Bloody diarrhea, Pa... OMIM:618213
Plague
Inflammation of the large intestine, Diarrhea, Sepsis, Vomiting, Enterocolitis, Hematemesis, Anor... ORPHA:707
Syndromic Diarrhea
Intractable diarrhea, Gastritis, Dependency on intravenous nutrition, Colitis, Recurrent infectio... ORPHA:84064
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Cockayne Syndrome Type 1
Diarrhea ORPHA:90321
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Gastroesophageal reflux, Abnormal esophagus physiology, Nausea, Anorexia, A... ORPHA:99921
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Poor appetite, Constipation ORPHA:18
Dubowitz Syndrome
Gastroesophageal reflux, Feeding difficulties in infancy, Episodic vomiting, Recurrent infections... OMIM:223370
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis OMIM:213700
Lysinuric Protein Intolerance
Hepatic failure, Vomiting, Diarrhea, Recurrent bacterial infections, Feeding difficulties, Steato... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Hurler Syndrome
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties ORPHA:93473
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Hematemesis, Melena, Bloody diarrhea ORPHA:464321
Multiple Endocrine Neoplasia, Type Iib
Diarrhea, Constipation OMIM:162300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Congenital Syphilis
Diarrhea, Malabsorption ORPHA:499009
Hemorrhagic Fever-Renal Syndrome
Vomiting, Diarrhea, Nausea, Hematemesis, Melena, Abdominal pain ORPHA:340
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Bloody diarrhea, Recurrent abscess formation ORPHA:436252
Beta-Thalassemia Major
Diarrhea, Feeding difficulties ORPHA:231214
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... ORPHA:95430
Multiple Endocrine Neoplasia, Type I
Diarrhea, Esophagitis OMIM:131100
Addison Disease
Diarrhea, Nausea and vomiting, Constipation, Anorexia, Abdominal pain ORPHA:85138
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea ORPHA:457279
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Sepsis, Hematemesis, Recurrent respiratory inf... ORPHA:906
Malakoplakia
Abdominal pain, Diarrhea ORPHA:556
Alg9-Cdg
Vomiting, Diarrhea, Gastroesophageal reflux ORPHA:79328
Rothmund-Thomson Syndrome Type 1
Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding ORPHA:221008
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Mednik Syndrome
Diarrhea OMIM:609313
Williams Syndrome
Type II diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Overfriendliness, Bi... ORPHA:904
Neuroblastoma
Chronic diarrhea, Abdominal distention ORPHA:635
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Vipoma
Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Episo... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Melena, Vomiting, Diarrhea, Gastroesophageal reflux, Nausea, Constipation, Hematemesis, Anorexia,... ORPHA:652
Rothmund-Thomson Syndrome
Nasogastric tube feeding in infancy, Vomiting, Diarrhea ORPHA:2909
Dubowitz Syndrome
Recurrent infections, Malabsorption, Chronic diarrhea ORPHA:235
Rothmund-Thomson Syndrome Type 2
Functional abnormality of the gastrointestinal tract, Vomiting, Diarrhea, Nasogastric tube feeding ORPHA:221016
Sapho Syndrome
Inflammation of the large intestine, Malabsorption, Steatorrhea, Abdominal pain, Chronic diarrhea ORPHA:793
Peutz-Jeghers Syndrome
Abdominal pain, Intestinal bleeding, Bloody diarrhea OMIM:175200
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis, Chronic diarrhea ORPHA:158668
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Marburg Hemorrhagic Fever
Vomiting, Diarrhea, Odynophagia, Nausea, Anorexia, Abdominal pain, Bloody diarrhea ORPHA:99826
Kawasaki Disease
Abdominal pain, Diarrhea, Nausea and vomiting, Recurrent pharyngitis ORPHA:2331
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea OMIM:613989
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis OMIM:208900
Nijmegen Breakage Syndrome
Recurrent pneumonia, Chronic diarrhea, Recurrent sinopulmonary infections, Recurrent respiratory ... ORPHA:647
Deeah Syndrome
Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Chronic diarrhea, Dysphagia OMIM:619004
Idiopathic Hypereosinophilic Syndrome
Vomiting, Malabsorption, Colitis, Feeding difficulties in infancy, Abdominal distention, Abdomina... ORPHA:3260
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Colitis, Bloody diarrhea ORPHA:90068
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Chronic constipation OMIM:619005
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Multiple Endocrine Neoplasia Type 2
Constipation, Diarrhea, Abdominal distention ORPHA:653
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Sepsis, Xerostomia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal i... ORPHA:95455
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Gitelman Syndrome
Abdominal pain, Diarrhea, Nausea and vomiting, Constipation ORPHA:358
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration ORPHA:244242
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Diarrhea, Melena, Parotitis, Nausea and vomiting, Hematemesis, Anorexia, Abdomin... ORPHA:99827
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea ORPHA:3164
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Nail dystrophy ORPHA:2968
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Scorpion Envenomation
Abdominal pain, Vomiting, Diarrhea ORPHA:466677
Bartter Syndrome, Type 1, Antenatal
Vomiting, Diarrhea, Constipation OMIM:601678
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Malabsorption ORPHA:47159
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Yellow Fever
Vomiting, Diarrhea, Nausea, Hematemesis, Abdominal pain ORPHA:99829
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Hepatic failure OMIM:222470
Acute Liver Failure
Vomiting, Gastrointestinal hemorrhage, Diarrhea, Nausea ORPHA:90062
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Constipation OMIM:241200
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Myocardial steatosis, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Dysphagia, Feeding difficulties OMIM:606721
Chikungunya
Vomiting, Diarrhea ORPHA:324625
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:217085
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent ear infections ORPHA:217093
Yunis-Varon Syndrome
Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Sev... ORPHA:3472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Gastrointestinal dys... ORPHA:500150
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Leptospirosis
Abdominal pain, Diarrhea, Nausea and vomiting, Anorexia ORPHA:509
Zttk Syndrome
Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties OMIM:617140
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Adrenal calcification, Cardiomegaly, Pancr... ORPHA:51608
Aspartylglucosaminuria
Recurrent respiratory infections, Diarrhea OMIM:208400
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Nmda Receptor Encephalitis
Vomiting, Diarrhea ORPHA:217253
Juvenile Polyposis Syndrome
Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Hematochezia ORPHA:2929
Occipital Horn Syndrome
Chronic diarrhea OMIM:304150
African Trypanosomiasis
Nausea, Vomiting, Diarrhea ORPHA:3385
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Decreased body weight,... OMIM:182250
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intermittent diarrhea, Feeding difficulties ORPHA:2255
Viss Syndrome
Gastroesophageal reflux, Chronic gastritis, Chronic constipation, Abdominal distention, Chronic d... OMIM:619472

Histopathology

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

There is no histopathology data for Gucy2c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gucy2c.

No publications found that use IMPC mice or data for Gucy2c.

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MGI Allele Allele Type Produced
Gucy2cem1(IMPC)Rbrc Indel Mice
Gucy2ctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gucy2ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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