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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 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
Diarrhea, Abdominal pain OMIM:614616
Meconium Ileus
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
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Recurrent infections OMIM:614102
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... ORPHA:71529
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 19
Diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:615617
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent respirato... OMIM:613501
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Matern... ORPHA:276580
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia, Tall stature OMIM:618406
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal ... ORPHA:276575
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Gonadot... OMIM:609734
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Recurrent pneumonia, Recurrent respirator... OMIM:613502
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insuli... ORPHA:276556
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:612692
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Hepatic steatosis, Abdominal obesity, Diabetes mellitus OMIM:615980
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting ORPHA:103909
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent infections, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Immunodeficiency 48
Diarrhea, Recurrent candida infections OMIM:269840
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Anal Sphincter Dysplasia
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation OMIM:105563
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Type 1 Diabetes Mellitus
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia OMIM:222100
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Hirsutism, Insulin-resistant dia... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Polyphagia, Umbilical hernia, Tall stature, Insulin-resistant diabetes m... OMIM:608594
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea OMIM:609536
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Hirsutism, Polyphagia, Umbilical hernia, Tall stature,... OMIM:269700
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity... ORPHA:254516
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hepatic steatosis, Hypertrig... OMIM:615703
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Rabies
Recurrent pharyngitis, Nausea and vomiting, Anorexia, Diarrhea ORPHA:770
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia ORPHA:177910
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low ant... ORPHA:528
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent otitis media, Dia... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Diarrhea, Recurrent opportunistic infections OMIM:608971
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Elevate... OMIM:610717
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Ventricular h... OMIM:300942
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cardiomyopathy, Cirrhosis, Hepatic... OMIM:606069
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hirs... OMIM:151660
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Failure to thrive, Ventricular hypertrophy, Left ventricular hypertro... OMIM:619048
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Hypoglycemia, Fail... OMIM:212140
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent otitis media, Crohn's disease, Recurrent enteroviral in... OMIM:601495
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Generalized hirsutism, Insulin resistance ORPHA:79087
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hirschsprung Disease
Sepsis, Nausea and vomiting, Functional abnormality of the gastrointestinal tract, Intestinal obs... ORPHA:388
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Long eyelashes, Neonatal hypoglycemia, Hypergonadotropic hypogonad... OMIM:606407
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Hypopigmentation of hair, Polyphagia ORPHA:411515
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Perlman Syndrome
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Cap Polyposis
Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal pain, Constipation ORPHA:160148
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Diarrhea, Recurrent pneumonia, Vomiting OMIM:616069
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow, Polyphagia ORPHA:171829
Graves Disease, Susceptibility To, 1
Weight loss, Graves disease, Polyphagia, Goiter OMIM:275000
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Hyaline Fibromatosis Syndrome
Diarrhea, Recurrent infections OMIM:228600
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Dracunculiasis
Nausea and vomiting, Diarrhea, Recurrent cutaneous abscess formation ORPHA:231
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Thick... OMIM:615547
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Cardiomyopathy, Ketotic hypoglycemia ORPHA:26792
Ethanolaminosis
Cardiomegaly OMIM:227150
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Diarrhea 9
Diarrhea OMIM:618168
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Cardiomyopat... ORPHA:79086
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Polyphagia, Polydipsia, Failure to thrive, ... ORPHA:525731
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Insulin-resistant ... OMIM:262190
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Hirsutism, ... ORPHA:2298
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract... OMIM:619446
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Failure to thrive, Lipodystrophy, Splenom... OMIM:613327
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin ... ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain ORPHA:103907
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue... ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Brunner Syndrome
Diarrhea OMIM:300615
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, H... ORPHA:79237
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Cardiomyopathy, Pan... ORPHA:90970
Immunodeficiency 22
Recurrent respiratory infections, Diarrhea OMIM:615758
Pick Disease Of Brain
Polyphagia OMIM:172700
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Recurrent herpes, Failure to thrive secondary to recurrent infections, Protracted diarr... ORPHA:169160
Immunodeficiency 46
Chronic diarrhea, Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Episodic abdominal pain, Intermittent diarrhea... ORPHA:209964
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Frontotemporal Dementia
Polyphagia OMIM:600274
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Pulmonic stenosis, Decreased liver function, Hepatic steatosi... OMIM:614300
Ménétrier Disease
Anorexia, Helicobacter pylori infection, Vomiting, Nausea, Giant hypertrophic gastritis, Gastroin... ORPHA:2494
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... OMIM:615767
Donohue Syndrome
Fasting hypoglycemia, Hypertrichosis, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Preco... OMIM:246200
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Immunodeficiency 55
Diarrhea, Recurrent infections OMIM:617827
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98754
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis... OMIM:619386
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98793
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Hepatic steatosis, Elevated hepatic transam... OMIM:255120
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous ... ORPHA:280365
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177904
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Man1B1-Cdg
Polyphagia, Long eyelashes, Sparse eyebrow, Truncal obesity, Abnormal position of hair whorl, Lon... ORPHA:397941
Cebalid Syndrome
Congenital diaphragmatic hernia, Thick eyebrow, Polyphagia, Highly arched eyebrow OMIM:618774
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177901
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Diarrhea, Recurrent opportunistic infections OMIM:601457
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Failure to thrive, Abnormal heart morphology, Decreased l... ORPHA:70472
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Macrovesicular hepa... OMIM:600649
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Growth Hormone Insensitivity Syndrome
Fine hair, Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failu... ORPHA:181393
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resis... OMIM:203800
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:240500
Huntington Disease
Polyphagia, Decreased body mass index, Choking episodes, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... OMIM:607594
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Premature adren... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated hepatic transaminase OMIM:616829
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... ORPHA:95427
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Distal arthrogryposis, Hypoglycemia, Cardiomegaly, Decreased liver functi... ORPHA:42
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:398073
Hyperostosis Frontalis Interna
Obesity, Hypertrichosis, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Chron... OMIM:614699
Complement Factor B Deficiency
Recurrent bacterial infections, Recurrent meningococcal disease, Peritonitis OMIM:615561
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent otitis media, Recurrent upper respiratory tract inf... ORPHA:277
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent otitis media, Recurrent infections, ... OMIM:615207
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Fail... OMIM:256810
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, In... OMIM:248370
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondria... OMIM:251880
Luscan-Lumish Syndrome
Overgrowth, Hirsutism, Polyphagia, High anterior hairline, Obesity OMIM:616831
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Abnormal dental enamel morphology, Obesity, Delayed puberty, Enlarged kidney ORPHA:251004
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Immunodeficiency 76
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absence of pube... ORPHA:398069
Coproporphyria, Hereditary
Constipation, Diarrhea, Abdominal pain, Vomiting OMIM:121300
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Immunodeficiency 31C
Recurrent respiratory infections, Diarrhea, Chronic mucocutaneous candidiasis OMIM:614162
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Failure to thrive,... ORPHA:71212
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Hypoketotic hypog... OMIM:231530
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Recurrent protozoan infections, Protracted diarrhea, Recurrent fu... OMIM:209920
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition OMIM:251850
Congenital Short Bowel Syndrome
Vomiting, Abnormal peristalsis, Chronic diarrhea, Decreased intestinal transit time, Steatorrhea OMIM:615237
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Hypogonadism, Atrial septal defect, Diabetes melli... OMIM:615981
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Generalized hirsutism, Polyphagia, Synophrys ORPHA:228402
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... ORPHA:264580
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Glucose intolerance, Hypogonadotropic... OMIM:235200
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatos... OMIM:618805
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Esophagitis, Chronic diarrhea, Gastritis, Pancolitis, Abdominal pain OMIM:619079
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes m... ORPHA:769
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent infections, Recurrent pneumonia, Recurrent aphthous stomatiti... OMIM:150550
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... ORPHA:739
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Diarrhea, Secretory diarrhea, Anorexia, Vomiting OMIM:600351
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Abdominal distention, Abdominal pain, Constipation ORPHA:168829
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circula... OMIM:614582
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent prot... ORPHA:572
Carcinoma Of Esophagus
Weight loss, Dysphagia, Obesity ORPHA:70482
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... ORPHA:209902
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Hepatic steatos... OMIM:201475
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Enterokinase Deficiency
Diarrhea OMIM:226200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Dysbetalipoproteinemia
Hepatomegaly, Hypercholesterolemia, Hepatic steatosis, Xanthelasma, Acute pancreatitis, Diabetes ... ORPHA:412
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Decreased serum in... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Highly arched eyebrow, Hypoglycemia, Hirsutism, Low anterior ha... OMIM:220111
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Ventricular hypertro... OMIM:617253
Reticular Dysgenesis
Sepsis, Recurrent respiratory infections, Diarrhea ORPHA:33355
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting OMIM:615863
Mitochondrial Dna Depletion Syndrome 11
Diarrhea, Recurrent infections, Nausea OMIM:615084
Cog7-Cdg
Feeding difficulties, Diarrhea, Recurrent infections ORPHA:79333
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Fulminant hepatitis OMIM:242850
Central Precocious Puberty
Abnormality of secondary sexual hair, Overgrowth, Increased circulating gonadotropin level, Isose... ORPHA:759
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Jaundice ORPHA:890
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Chr... ORPHA:276
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Trisomy 18P
Highly arched eyebrow, Polyphagia ORPHA:1715
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Feeding difficulties, Diarrhea, Abdominal pain, Constipation OMIM:613638
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Recurrent respiratory infections, Diarrhea, Vomiting, Feeding difficulties in infancy OMIM:264350
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Chronic diarrhea OMIM:616005
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Chylomicron Retention Disease
Malnutrition, Diarrhea, Steatorrhea, Vomiting OMIM:246700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hypopituitarism, Ele... OMIM:619013
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Secretory diarrhea, Abdominal distention, Vomiting OMIM:619445
Erythroderma Desquamativum
Diarrhea ORPHA:314
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... ORPHA:251937
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, D... OMIM:615830
Hinman Syndrome
Recurrent urinary tract infections, Bowel incontinence, Constipation ORPHA:84085
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:90035
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... ORPHA:444490
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Porphyria Cutanea Tarda
Scarring, Hirsutism, Elevated hepatic iron concentration, Hepatocellular carcinoma, Corneal scarr... ORPHA:101330
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Nausea, Recurrent infections, Poor appetite, Diarrhea ORPHA:352447
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cholestasis, Macrovesicular hepatic steatosis OMIM:614924
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism, Elevate... OMIM:617713
Immunodeficiency 15B
Chronic diarrhea OMIM:615592
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Hyperphosphatemia, Polyuria, And Seizures
Diarrhea, Vomiting OMIM:239350
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hypoketotic hypoglycemia, Ventricular hypertrophy, Cardiomyopathy, Hepatic steatosi... ORPHA:228305
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaire... OMIM:614450
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Recurrent infections OMIM:229050
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Immunodeficiency 57 With Autoinflammation
Gastritis, Recurrent respiratory infections, Inflammation of the large intestine, Diarrhea OMIM:618108
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Abdominal pain, Constipation, Chronic constipation OMIM:248360
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Insuli... ORPHA:2959
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Steatorrhea, Diabetes melli... OMIM:616263
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Small for ... ORPHA:860
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Recurrent urinary tract infections, Recurrent respiratory infectio... ORPHA:90045
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Cholelithiasis, Spleno... ORPHA:567983
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Subvalvular aortic stenosis, Obesity, Biliary tract abnormality, Ingui... ORPHA:3191
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Ebola Hemorrhagic Fever
Sepsis, Dysphagia, Vomiting, Nausea, Melena, Gastrointestinal hemorrhage, Poor appetite, Diarrhea... ORPHA:319218
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Polyphagia, Enamel hypoplasia, Pseudohypoparathyr... ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Long eyelashes, Elevated hepatic transa... OMIM:619064
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Diarrhea OMIM:603554
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Thick eyebrow, Polyphagia OMIM:156200
Angelman Syndrome
Precocious puberty in females, Dysphagia, Polyphagia, Obesity, Delayed menarche, Fair hair ORPHA:72
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... ORPHA:465508
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent ear ... ORPHA:486
Isolated Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Diarrhea, Recurrent cutaneous abscess formation ORPHA:229717
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Mental Retardation, Autosomal Dominant 57
Feeding difficulties, Diarrhea, Constipation OMIM:618050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Diarrhea, Recurrent candida infections OMIM:201100
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Low posterior hairline, Abnormality of the hypothalamus-pituitary axis, Ab... ORPHA:2183
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Glucose intolerance, Impaired glucose ... OMIM:615630
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis,... ORPHA:254346
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... OMIM:619281
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Ventricular hypertrophy, Cardiomyopathy, Neonatal hypoglycemia, Hepat... OMIM:212138
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Weight loss, Hypogonadotropic hypogonadism, Cirrhosis, Macrovesicular hepati... ORPHA:298
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Mitral valve prolapse, Tall stature, Failure to thrive, Brittle ha... OMIM:236200
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Chronic diarrhea, Hepati... OMIM:613489
Leprechaunism
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypertri... ORPHA:508
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Colitis, Recurrent infections, Chronic gastritis,... OMIM:608809
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericardial effusion, Hepatic fibrosis, Elevated hepatic transaminase, Failure to t... OMIM:212065
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Polyphagia, Polydipsia, Hyperglycemia, Premature adrenarche, Elevated hep... ORPHA:293987
Severe Combined Immunodeficiency, X-Linked
Chronic diarrhea, Recurrent fungal infections, Chronic oral candidiasis, Recurrent pneumonia OMIM:300400
Neuroendocrine Tumor Of The Rectum
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel sounds, Protra... ORPHA:100082
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Elevated hepatic transaminase, Jaundice ORPHA:858
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Radiation Proctitis
Sepsis, Tenesmus, Intestinal obstruction, Diarrhea, Hematochezia ORPHA:70475
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hypoglycem... OMIM:611126
Glucose/Galactose Malabsorption
Chronic diarrhea, Abdominal distention, Hyperactive bowel sounds OMIM:606824
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Hematochezia ORPHA:103910
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Polyphagia, Congenital diaphragmatic hernia, Long eyelashes, Horizonta... ORPHA:96121
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age, Visceromegaly OMIM:601165
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Monosomy 13Q34
Insulin resistance, Horizontal eyebrow, Pulmonic stenosis, Hepatic steatosis, Common atrium, Obesity ORPHA:96168
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Polyphagia, Enamel hypoplasia, Pseudohypoparathyr... ORPHA:79443
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Intractable diarrhea, Recurrent p... OMIM:617475
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Low posterior hairline, Hypogonadism, Obesity, Abnormal hair quantity ORPHA:2233
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent otitis ... OMIM:307200
Atypical Werner Syndrome
Abnormal hair morphology, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, White fo... ORPHA:79474
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Diabetes mellitus, Hepatic ... ORPHA:541423
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Hypoglycemia, Microvesicul... OMIM:619418
Caspase 8 Deficiency
Chronic diarrhea, Recurrent sinopulmonary infections, Recurrent herpes OMIM:607271
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Fine hair, Ventricular septal defect, Sparse hair, Polyphagia ORPHA:251028
1P36 Deletion Syndrome
Dilated cardiomyopathy, Abnormality of the spleen, Dysphagia, Polyphagia, Annular pancreas, Failu... ORPHA:1606
Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Abdominal pain, Constipation ORPHA:1267
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Fair hair OMIM:269920
Porphyria
Nausea and vomiting, Anorexia, Diarrhea, Abdominal pain, Constipation ORPHA:738
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Chronic diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Crohn's disease, Recurrent upper respirator... OMIM:616100
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, Hepatic steatosis, Acute ... ORPHA:99901
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus ORPHA:2377
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatic fibrosis, Failure to thrive, Weight los... OMIM:619487
Intestinal Botulism
Xerostomia, Nausea and vomiting, Dysphagia, Diarrhea ORPHA:178481
Vascular Hyalinosis
Diarrhea, Hematochezia OMIM:277175
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Nk-Cell Enteropathy
Duodenal ulcer, Gastric ulcer, Constipation, Diarrhea, Gastroesophageal reflux, Abdominal pain, H... ORPHA:263665
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... ORPHA:83471
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Knee flexion contracture, Hepatic steatosis, H... ORPHA:79322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Lipid accumulation in hepatocytes, C... OMIM:608836
Foodborne Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Abdominal pain, Constipation ORPHA:228371
Immunodeficiency 25
Protracted diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurrent herpes OMIM:610163
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Diarrhea OMIM:609313
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevated circula... OMIM:615486
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Alg1-Cdg
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections ORPHA:79327
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Cardiomyopathy, Left ... ORPHA:746
Central Diabetes Insipidus
Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Failure to thrive, Cardiomegaly, Lipoatrophy, Hypot... ORPHA:349
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Sparse hair, Cardiomegaly OMIM:613576
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Diarrhea OMIM:602450
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Paten... OMIM:601005
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Cholestasis, Pulmonic valve myxoma, Jaundice ORPHA:615
T-Cell Immunodeficiency With Thymic Aplasia
Chronic diarrhea, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma OMIM:242700
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Diarrhea, Recurrent infections ORPHA:33110
Inhalational Botulism
Xerostomia, Nausea and vomiting, Diarrhea, Constipation ORPHA:254504
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Hepatic periportal necrosis, Jaundice OMIM:231680
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Vomiting, Recurrent infections, Intestinal obstruction, Diarrhea, Abdominal pain OMIM:226300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Cholangitis, Hypoglycemia, Failure... OMIM:124000
Galactosemia
Sepsis, Vomiting, Feeding difficulties, Hepatic failure, Diarrhea ORPHA:352
Glucose-Galactose Malabsorption
Vomiting, Abdominal distention, Hyperactive bowel sounds, Malnutrition, Diarrhea ORPHA:35710
Erythermalgia, Primary
Xerostomia, Diarrhea, Constipation OMIM:133020
Adnp Syndrome
Hirsutism, Polyphagia, High anterior hairline, Inguinal hernia, Truncal obesity, Oral-pharyngeal ... ORPHA:404448
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Highly arched eyebrow, Type II diabetes mellitus, ... ORPHA:401923
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Recurrent respiratory infections, Diarrhea ORPHA:2575
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse hepatic ste... ORPHA:2137
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Peritonitis, Abdominal distention, Neonatal sepsis, Diarrhea ORPHA:391673
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular ad... ORPHA:79240
Pancreatic Colipase Deficiency
Chronic diarrhea, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomegaly, Card... ORPHA:228308
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Fatal liver failure in i... ORPHA:263501
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Eleva... ORPHA:348
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty, Hirsutism OMIM:604931
Porphyria Due To Ala Dehydratase Deficiency
Episodic vomiting, Nausea, Abdominal distention, Diarrhea, Abdominal pain, Constipation ORPHA:100924
Pearson Syndrome
Adrenal insufficiency, Splenomegaly, Steatorrhea, Diabetes mellitus, Hepatic steatosis, Exocrine ... ORPHA:699
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Curly eyelashes, Cardiomegaly, Long eyelashes, Large... OMIM:239850
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Neuroendocrine Tumor Of The Colon
Bloody diarrhea, Anorexia, Bowel urgency, Protracted diarrhea, Melena, Lack of bowel sounds, Abdo... ORPHA:100080
Eosinophilic Gastroenteritis
Dysphagia, Vomiting, Steatorrhea, Diarrhea, Abdominal pain, Hematochezia ORPHA:2070
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Noncompaction cardiomyopathy OMIM:610198
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Nausea, Feeding difficulties, Reye syndrome-like episodes, Poor appetite, Diarrhea ORPHA:927
Bardet-Biedl Syndrome 8
Hypogonadism, Situs inversus totalis, Obesity OMIM:615985
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... OMIM:300972
Classic Galactosemia
Sepsis, Vomiting, Feeding difficulties, Hepatic failure, Diarrhea ORPHA:79239
Lassa Fever
Sepsis, Dysphagia, Nausea and vomiting, Diarrhea, Abdominal pain ORPHA:99824
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Neonatal hypoglycemia, Hepatic steatosis, Hypothyroidism, Elevated hepatic transa... ORPHA:445038
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Visceral Myopathy 1
Dysphagia, Vomiting, Intestinal pseudo-obstruction, Abdominal distention, Gastroparesis, Malnutri... OMIM:155310
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Cardiomyopathy ORPHA:52430
Kaposi Sarcoma
Diarrhea, Recurrent herpes ORPHA:33276
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Constipation ORPHA:99745
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:1842
Immunodeficiency 69
Diarrhea OMIM:618963
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Cardiomyopathy, Hepatic steatosis OMIM:614922
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Alström Syndrome
Dilated cardiomyopathy, Hirsutism, Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating ... ORPHA:64
Morgagni-Stewart-Morel Syndrome
Hirsutism, Abnormality of the endocrine system, Hypercholesterolemia, Diabetes mellitus, Hypothyr... ORPHA:77296
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent infections, Recurrent urinary tract inf... OMIM:300755
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Nasogastric tube feeding, Vomiting ORPHA:289504
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79455
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting OMIM:608104
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, ... OMIM:252920
Porphyria, Acute Intermittent
Vomiting, Nausea, Paralytic ileus, Diarrhea, Abdominal pain, Constipation OMIM:176000
Cimdag Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hypogonadism OMIM:619273
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Rapadilino Syndrome
Diarrhea OMIM:266280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent infections, Recurrent lower respiratory tract infections, C... ORPHA:169154
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Micronodular cirrhosis, Cardiomyopathy, Hepatic steatosis, Hypertriglycer... ORPHA:98907
Smith-Magenis Syndrome
Abnormal heart morphology, Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid... OMIM:182290
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Polydipsia, Aplasia/Hypoplasia of the pancreas, Abn... ORPHA:93111
Benign Recurrent Intrahepatic Cholestasis
Chronic diarrhea, Nausea and vomiting, Anorexia, Abdominal pain ORPHA:65682