Gene Summary

Name:
guanylate cyclase 2c
Synonyms:
GC-C

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

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
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism 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
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Obesity And Hypopigmentation
Hyperinsulinemia, Red hair, Overgrowth, Polyphagia, Obesity, Hepatic steatosis OMIM:620195
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Chronic diarrhea, Recurrent respiratory infections, Diarrhea OMIM:614102
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Flatulence OMIM:223100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Maternal diabet... ORPHA:276580
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Agitation, Diffuse pancreatic isl... ORPHA:276556
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Hepatomegaly, Pancreatitis, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Hypogonadism OMIM:614962
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hirsutism, R... OMIM:612526
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneou... OMIM:604367
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections OMIM:609536
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Red hair, Decreased... OMIM:609734
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic ... OMIM:608594
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastroesophageal ref... OMIM:608971
Angioedema, Hereditary, 8
Diarrhea, Abdominal pain, Episodic vomiting OMIM:619367
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... OMIM:615238
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyper... ORPHA:363400
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Diarrhea, Recurrent bronchi... OMIM:613501
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Recurrent pharyngitis ORPHA:770
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Elevated circulating hepatic transaminase concentration, Sple... OMIM:269700
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disor... ORPHA:261229
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent otitis media OMIM:614379
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain, Malabsorption OMIM:222900
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy... OMIM:615395
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hypercholesterolemia, Obesity, Type II diabetes mellitus, Insulin resistanc... OMIM:615703
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs... OMIM:608709
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism, Hypopigmentation of hair ORPHA:177910
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Loss of truncal subcu... OMIM:151660
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Increased circulating insulin-like growth factor 1 concentration, Ventricular hyper... OMIM:300942
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Elevated circul... ORPHA:263455
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Polyphagia, Obesity, Inappropriate laughter ORPHA:411515
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabete... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio... OMIM:619048
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lipodystrophy, Abdominal obesity, Insulin resistance, Diabetes mellitus, Hepatic ... OMIM:615980
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Low anterior hairline, Dorsocervical fat pad, Hyperinsulinemi... OMIM:616033
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Diarrhea 13
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Re... OMIM:620357
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Thick eyebrow, Polyphagia ORPHA:171829
Immunodeficiency 19
Chronic diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:615617
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Generalized hirsutism, Hepatic steatosis ORPHA:79087
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption ORPHA:103907
Hirschsprung Disease
Intestinal obstruction, Sepsis, Diarrhea, Functional abnormality of the gastrointestinal tract, A... ORPHA:388
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Schaaf-Yang Syndrome
Polyphagia, Camptodactyly, Impulsivity, Obesity, Skin-picking, Thick eyebrow, Flexion contracture... OMIM:615547
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male... OMIM:615381
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferas... OMIM:619386
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Cap Polyposis
Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia, Atrophic gastritis ORPHA:160148
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Ethanolaminosis
Cardiomegaly OMIM:227150
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Joubert Syndrome 10
Hirsutism, Decreased body weight, Polyphagia, Frequent temper tantrums, Obesity OMIM:300804
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder OMIM:620439
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent bacterial ... OMIM:612692
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Hepatomegaly, ... ORPHA:525731
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
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Panniculitis, Generalized lipody... ORPHA:79086
Brunner Syndrome
Diarrhea OMIM:300615
Dracunculiasis
Recurrent cutaneous abscess formation, Nausea and vomiting, Diarrhea ORPHA:231
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Lactase Deficiency, Congenital
Diarrhea, Lactose intolerance OMIM:223000
Diarrhea 9
Diarrhea OMIM:618168
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Polyphagia, Long ey... OMIM:606407
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d... OMIM:620045
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss... ORPHA:79083
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Generalized hirsutism, Motor stereot... ORPHA:228402
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti... OMIM:212140
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Obesity, Hypogonadism, Atrial septal defect, Ventricular s... OMIM:615996
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Recurrent sinopulmonary infections, Chronic diarrhea OMIM:616740
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Very long chain... OMIM:264470
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:613327
Wilson Disease
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Acute... ORPHA:905
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Immunodeficiency 15B
Recurrent infections, Chronic oral candidiasis, Chronic diarrhea OMIM:615592
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Breast hypoplasia, Abno... ORPHA:785
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypopigmentation of hair, Po... ORPHA:398079
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Hypopigmentation of hair, In... ORPHA:398069
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Recurrent infections, Abdominal pain, Diarrhea, Recurrent sinusiti... OMIM:613960
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,... ORPHA:210548
Luscan-Lumish Syndrome
High anterior hairline, Hirsutism, Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia, Thick eyebrow, Highly arched eyebrow OMIM:618774
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Failure to thriv... ORPHA:70472
Man1B1-Cdg
Abnormal position of hair whorl, Long eyebrows, Polyphagia, Long eyelashes, Sparse eyebrow, Trunc... ORPHA:397941
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Giant hypertrophic gastritis, Abd... ORPHA:2494
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Premature graying of hair, Lipoatrophy, Hepatomegaly, Pancreatitis, Increas... ORPHA:280365
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Abdominal pain, Bloody diarrhea, Episodic abdominal pain, Hematochezia, Ch... ORPHA:209964
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Immunodeficiency, Common Variable, 7
Recurrent infections, Recurrent urinary tract infections, Recurrent respiratory infections, Chron... OMIM:614699
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Increa... OMIM:278000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Hypertrophic cardiomyopathy, Aggressive behavior OMIM:620270
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to ... ORPHA:95427
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting, Recurrent upper respiratory tract infections OMIM:620137
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Alopecia, Macronodular adrenal hyperplasia, Increased b... ORPHA:189427
Folate Malabsorption, Hereditary
Recurrent infections, Feeding difficulties in infancy, Diarrhea, Malabsorption OMIM:229050
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Peritonitis OMIM:615561
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating hepatic t... OMIM:616829
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Anorexia, Fa... ORPHA:169160
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large int... OMIM:615767
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated ca... OMIM:615981
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis,... OMIM:240500
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tis... OMIM:248370
Immunodeficiency 76
Recurrent bronchiolitis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Immunodeficiency 56
Recurrent otitis media, Recurrent infections, Chronic diarrhea, Recurrent pneumonia, Recurrent si... 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
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Fat malabsorption OMIM:613291
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Abdominal colic, Vomiting OMIM:615863
Coproporphyria, Hereditary
Diarrhea, Abdominal pain, Vomiting, Constipation OMIM:121300
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic f... OMIM:602579
Seckel Syndrome 10
Hypertriglyceridemia, Ventricular hypertrophy, Acute pancreatitis, Impaired glucose tolerance, El... OMIM:617253
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatic necrosis, F... OMIM:231530
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis,... OMIM:607594
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Delayed menarche, Recurrent hand ... ORPHA:72
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Reticular Dysgenesis
Diarrhea, Sepsis, Malabsorption, Recurrent respiratory infections ORPHA:33355
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Immunodeficiency 112
Recurrent lower respiratory tract infections, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:620449
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased body mass index, Elevated circulating hepatic transaminase concen... ORPHA:247585
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Elevated circulating... ORPHA:264580
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent infections, Diarrhea, Recurren... OMIM:150550
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Recurrent upper respiratory tract infectio... ORPHA:277
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarrhea, Esophagitis, Vomiting OMIM:619079
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy OMIM:618234
Rabson-Mendenhall Syndrome
Premature graying of hair, Polydipsia, Cardiomyopathy, Impaired glucose tolerance, Increased pine... ORPHA:769
Immunodeficiency 48
Chronic diarrhea, Recurrent candida infections, Recurrent respiratory infections OMIM:269840
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Trisomy 18P
Highly arched eyebrow, Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepa... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Hypertrophic cardiomyopathy, Elevated circulating alanine ami... OMIM:614582
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Nonketotic hypoglycemia, Hepatoce... OMIM:201475
Enteric Anendocrinosis
Diarrhea, Malabsorption, Vomiting ORPHA:83620
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Recurrent bronchiolitis, Recurrent pneumonia, Secretory diarrhea OMIM:616069
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, Hypoth... ORPHA:412
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior OMIM:612469
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent otitis ... OMIM:618495
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
19P13.12 Microdeletion Syndrome
Hyperactivity, Hyperlipidemia, Synophrys, Hypothyroidism, Precocious puberty, Obesity, Arthrogryp... ORPHA:254346
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:890
Enterokinase Deficiency
Diarrhea OMIM:226200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Chromosome 19P13.13 Deletion Syndrome
Diarrhea, Abdominal pain, Vomiting, Constipation, 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
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... OMIM:203800
Radiation Proctitis
Intestinal obstruction, Sepsis, Diarrhea, Abdominal pain, Bowel incontinence, Constipation, Hemat... ORPHA:70475
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption OMIM:606824
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased body weight, Hirsutism, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes ... OMIM:615830
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Decreased body weight, Acute pancreatitis, Hyperlipidemia, Failur... ORPHA:444490
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly... OMIM:261750
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Diarrhea, Chronic mucoc... ORPHA:572
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Recurrent respiratory infections, Feeding difficulties in infancy, Vomiting OMIM:264350
Erythroderma Desquamativum
Diarrhea ORPHA:314
Diarrhea 12, With Microvillus Atrophy
Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea OMIM:619445
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Intermittent diarrhea, Feeding difficulties, Gastroesophageal reflux OMIM:619971
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Recurrent hand flapping, Polyphagia, Low posterior hairline, Long eyelashe... OMIM:156200
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Abdominal pain, Vomiting, Constipation, Chronic constipation OMIM:248360
Immunodeficiency 57 With Autoinflammation
Diarrhea, Inflammation of the large intestine, Recurrent respiratory infections, Gastritis OMIM:618108
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Vascular Hyalinosis
Diarrhea, Hematochezia, Malabsorption OMIM:277175
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Splenomegaly, C... OMIM:252920
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V... OMIM:615237
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se... OMIM:614450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent bacteria... ORPHA:276
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting, Recurrent respiratory infections ORPHA:90035
Aromatase Deficiency
Tall stature, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuch... ORPHA:91
Isolated Agammaglobulinemia
Sepsis, Diarrhea, Malabsorption, Recurrent cutaneous abscess formation, Recurrent respiratory inf... ORPHA:229717
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Periportal fibro... OMIM:251880
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Recurrent infections, Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circu... OMIM:603471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Recurrent candida infections, Diarrhea, Recurrent upper respiratory tract i... OMIM:614069
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Synophrys... OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Synophrys, Long eyelashes,... OMIM:619064
Ebola Hemorrhagic Fever
Sepsis, Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Poor app... ORPHA:319218
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Gia... ORPHA:79303
Immunodeficiency 7
Diarrhea, Chronic oral candidiasis, Recurrent respiratory infections, Recurrent otitis media OMIM:615387
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Long eyelashes, Aort... ORPHA:96121
Chylomicron Retention Disease
Malnutrition, Steatorrhea, Diarrhea, Vomiting OMIM:246700
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Foxp1 Syndrome
Hypothyroidism, Failure to thrive, Overweight, Abnormal heart morphology, Flexion contracture, Re... ORPHA:391372
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurr... ORPHA:911
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogon... ORPHA:2183
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Elevated circulating alanine amin... OMIM:610198
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Sparse hair, Fine hair, Ventricular septal defect, Self-mutilation, Agg... ORPHA:251028
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:201450
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Diarrhea, Recurrent ear infections, Abdominal pain, Recurrent vira... ORPHA:486
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Hepatomegaly, Jaundice, Macrovesicular hepatic steatosis, Microvesicular hepatic steat... OMIM:256810
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent staphylococc... OMIM:116920
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Chronic diarrhea, Recurrent pneumonia, Recurrent fungal infections OMIM:300400
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Brittle hair, Failure to thrive, Disproportionate ta... OMIM:236200
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Membranous subvalvular aortic stenosis, Biliary tract abnormality, Obesity, Type... ORPHA:3191
Hereditary Folate Malabsorption
Anorexia, Gastroesophageal reflux, Diarrhea, Recurrent urinary tract infections, Nausea and vomit... ORPHA:90045
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ven... OMIM:212138
Atypical Werner Syndrome
Delayed puberty, Hypertriglyceridemia, Premature graying of hair, Lipoatrophy, Aortic valve steno... ORPHA:79474
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Abnormal heart valve morphology, Polyphagia, Hypothyro... ORPHA:1606
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Pulmon... OMIM:614300
Congenital Toxoplasmosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Cardiomegaly, Fa... ORPHA:858
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Cholestasis, Obesity, Spleno... OMIM:615630
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Inguinal hernia, Oral-pharyngeal dysphagia, Hir... ORPHA:404448
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Weaver Syndrome
Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Sparse hair, Umbilical hernia, Fine hair,... OMIM:277590
Infantile Liver Failure Syndrome 3
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Cholestasis, Hep... OMIM:618641
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Chole... ORPHA:567983
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Leprechaunism
Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Fasting hypoglycemia, Facial hypertrichosis, Dec... ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Decreased response to growth hormone stimulation test, High anterior hairline, H... OMIM:615873
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Obesity, Horizontal eyebrow, Insulin resistance, Hepatic steatosis ORPHA:96168
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Feeding difficulties, Vomiting OMIM:612075
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Low posterior hairline, Obesity, Hypogonadism, Mitral valve prolapse ORPHA:2233
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Hypogl... OMIM:611126
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Testicular atrophy, Portal hyp... ORPHA:465508
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Recurrent sinusitis, ... OMIM:601495
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Cholesteryl Ester Storage Disease
Diarrhea, Nausea and vomiting, Hepatic failure ORPHA:75234
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Nonketotic ... ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, Recurr... OMIM:613489
Specific Granule Deficiency 2
Intractable diarrhea, Sepsis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial in... OMIM:617475
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Hepatomegaly, Cirrhosis, ... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Splenomegaly, Cardiomegaly, Fair hair OMIM:269920
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Failure to ... ORPHA:79322
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Cardiomegaly, Hypoglycemia,... OMIM:614702
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Alopecia OMIM:275630
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Autosomal Agammaglobulinemia
Sepsis, Recurrent infections, Diarrhea, Malabsorption, Recurrent respiratory infections ORPHA:33110
Eosinophilic Gastroenteritis
Steatorrhea, Diarrhea, Abdominal pain, Vomiting, Hematochezia, Malabsorption, Dysphagia ORPHA:2070
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Alg1-Cdg
Recurrent infections, Chronic diarrhea, Sepsis, Decreased liver function ORPHA:79327
Long-Olsen-Distelmaier Syndrome
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Sec... OMIM:620609
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Chronic diarrhea, Recurrent bronchopulmonary infections, Recurrent viral infections, Re... OMIM:242700
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Recurrent viral infections, Recurrent bacterial infections OMIM:620632
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Recurrent lower respiratory tract infections, Recurrent infections, Abdom... OMIM:226300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Crohn's disease, Atrophic gastrit... OMIM:616100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Feeding difficulties... ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic diarrhea, Poor suck, Feeding difficulties, Chronic constipation OMIM:617788
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Diarrhea ORPHA:178029
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Stereotypical hand wringing, Hypothyroidism, Obesity, Skin-... OMIM:600430
Cog4-Cdg
Intermittent diarrhea, Neonatal sepsis, Recurrent infection of the gastrointestinal tract, Feedin... ORPHA:263501
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Diarrhea, Recurrent urinary tract infections, Recurrent enterov... OMIM:307200
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Rett Syndrome
Agitation, Stereotypical hand wringing, Failure to thrive, Motor stereotypy, Increased serum lept... ORPHA:778
Necrotizing Enterocolitis
Abdominal distention, Neonatal sepsis, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Blo... ORPHA:391673
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections OMIM:618882
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Fucosidosis
Lipoatrophy, Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism, Failure to thrive, Car... ORPHA:349
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Sparse hair OMIM:613576
Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:1267
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cardiomyopathy, Cholestasis, Chronic hepatic failur... ORPHA:746
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Sparse body hair, Type II diabetes mellitus, Abnormality of the thyro... ORPHA:2234
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Muscular ventricular septal defect, Elevated circulating hepatic transamin... ORPHA:66634
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Coronary artery stenosis, Hyperglycemia, Type II diab... OMIM:615812
9Q31.1Q31.3 Microdeletion Syndrome
Thick hair, Highly arched eyebrow, Type II diabetes mellitus, Bicuspid aortic valve, Dilated card... ORPHA:401923
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Hirsutism, Alopecia OMIM:604931
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity, Hypogonadism OMIM:615985
Mitochondrial Dna Depletion Syndrome 11
Recurrent infections, Chronic diarrhea, Nausea OMIM:615084
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Ch... OMIM:616433
Intestinal Botulism
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia ORPHA:178481
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Caspase 8 Deficiency
Chronic diarrhea, Recurrent sinopulmonary infections OMIM:607271
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hyperactivity, Congenital hypothyroidism, Obesity, Diabetes mellitus, Fair hair OMIM:614613
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Recurrent respiratory infections, Gastritis ORPHA:2575
Lassa Fever
Sepsis, Diarrhea, Abdominal pain, Dysphagia, Nausea and vomiting ORPHA:99824
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Synophrys ORPHA:589905
Liver Failure, Infantile, Transient
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Macrovesicular h... OMIM:613070
Foodborne Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:228371
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Feeding difficulties ORPHA:927
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomyopathy, Hyperlipidemia, Abnormal myocardium morph... ORPHA:228308
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:231680
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hirsutism, Hypothyroidism, Obesity, Abnormality of the thyro... ORPHA:77296
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, H... ORPHA:445038
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Classic Galactosemia
Sepsis, Diarrhea, Vomiting, Feeding difficulties, Hepatic failure ORPHA:79239
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Recurrent sinopulmonary infections, Ulcerative colitis, Colitis OMIM:618394
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Abdominal pain, Vo... OMIM:603041
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Curly eyelashes, Congenital, generalized hypert... OMIM:239850
Inhalational Botulism
Diarrhea, Nausea and vomiting, Xerostomia, Constipation ORPHA:254504
Omenn Syndrome
Diarrhea, Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card... ORPHA:98907
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent candida infections, Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Cro... ORPHA:436159
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormal he... ORPHA:699
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79455
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Elevated circulating hepatic transami... ORPHA:79240
Typhoid
Diarrhea, Abdominal pain, Gastrointestinal hemorrhage, Constipation ORPHA:99745