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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... 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
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... ORPHA:71526
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis media, Recurrent... OMIM:613501
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia, Tall stature OMIM:618406
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Lactose Intolerance, Adult Type
Diarrhea, Flatulence, Abdominal pain OMIM:223100
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu... ORPHA:276556
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity OMIM:614962
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity 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
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... OMIM:612526
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections OMIM:609536
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Type II diabetes mellitus, Hyperinsulinemia, Cirr... OMIM:604367
Trehalase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:103909
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis OMIM:613960
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Anal Sphincter Dysplasia
Constipation, Diarrhea, Encopresis, Chronic constipation, Bowel incontinence OMIM:105563
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Immunodeficiency 104
Gastroesophageal reflux, Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous cand... OMIM:608971
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia,... OMIM:615238
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:269700
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Recurrent pharyngitis ORPHA:770
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Obesit... OMIM:615703
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis,... ORPHA:528
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of hair, Obesity ORPHA:177910
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes mellitus, Hepatic ste... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent otitis media OMIM:614379
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
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
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... OMIM:151660
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency 48
Recurrent candida infections, Diarrhea, Recurrent respiratory infections OMIM:269840
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... OMIM:275000
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Elevated hepatic trans... OMIM:212140
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic ... OMIM:615980
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia OMIM:615986
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent ot... OMIM:612692
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Acquired Partial Lipodystrophy
Insulin resistance, Generalized hirsutism, Lipoatrophy, Hepatic steatosis ORPHA:79087
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hirschsprung Disease
Constipation, Abdominal pain, Sepsis, Diarrhea, Intestinal obstruction, Nausea and vomiting, Func... ORPHA:388
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... OMIM:300942
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsoce... OMIM:616033
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia, Hypopigmentation of hair ORPHA:411515
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Tall stature, Inguinal hernia, Femo... ORPHA:2849
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Atrophic gastritis ORPHA:160148
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Spa... ORPHA:2457
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Thick eyebrow ORPHA:171829
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Diarrhea, Recurrent pneumonia, Vomiting OMIM:616069
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Ethanolaminosis
Cardiomegaly OMIM:227150
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Acut... ORPHA:79086
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity ORPHA:791
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Dracunculiasis
Nausea and vomiting, Diarrhea, Recurrent cutaneous abscess formation ORPHA:231
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Hypogonadism, Lipodystrophy, Hy... OMIM:615381
Diarrhea 9
Diarrhea OMIM:618168
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Intestinal Dysmotility Syndrome
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... OMIM:620045
Schaaf-Yang Syndrome
Thick eyebrow, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita... OMIM:615547
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Increased body w... ORPHA:2298
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased circulating ... ORPHA:525731
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gesta... OMIM:262190
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Maternal... ORPHA:79083
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea ORPHA:103907
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodys... ORPHA:2348
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Brunner Syndrome
Diarrhea OMIM:300615
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189439
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Immunodeficiency 22
Diarrhea, Recurrent respiratory infections OMIM:615758
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Chronic diarrhea OMIM:616740
Pick Disease Of Brain
Polyphagia OMIM:172700
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Mpi-Cdg
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Atrial septal defect, Pulmonic stenosis, Cholestasis... OMIM:614300
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Hematochezia, I... ORPHA:209964
Ménétrier Disease
Gastroesophageal reflux, Abdominal pain, Anorexia, Diarrhea, Vomiting, Helicobacter pylori infect... ORPHA:2494
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... OMIM:246200
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea, Recurrent respiratory infe... OMIM:615767
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Peroxisomal Acyl-Coa Oxidase Deficiency
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Elevated hepatic transa... OMIM:600649
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... ORPHA:181393
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... OMIM:619386
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Frontotemporal Dementia
Polyphagia OMIM:600274
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Sparse hair, Flexion contracture, Alopecia... OMIM:608612
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia, ... OMIM:255120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Cebalid Syndrome
Polyphagia, Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia OMIM:618774
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Polyphagia, Long eyelashes, Lon... ORPHA:397941
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
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
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Recurrent bronchitis, Recurrent pn... OMIM:607594
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Recurrent bronchitis, Recurrent pn... OMIM:240500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hypopigmentation of hair, Dysphagia, Hypertrophic ca... ORPHA:70472
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Anorexia, Diarrhea, Protracted diarrhea, ... ORPHA:169160
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... ORPHA:398079
Secondary Short Bowel Syndrome
Failure to thrive, Steatorrhea, Cholestasis, Polyphagia, Primary hypothyroidism, Weight loss, Cen... ORPHA:95427
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Chron... OMIM:614699
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Hypertrichosis, Diabetes mellitus OMIM:144800
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Recurrent infections OMIM:229050
Prader-Willi-Like Syndrome
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... ORPHA:398073
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Cachexia, Hypoglycemia, Elevated hepatic transaminase, Di... ORPHA:42
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated hepatic transaminase OMIM:616829
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Peritonitis OMIM:615561
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... OMIM:248370
Immunodeficiency 76
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Diarrhea, Recurrent opportunistic infections, Recur... ORPHA:277
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Hepatic failure, Recurrent sinusitis, Recurren... OMIM:615207
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Polyphagia, Delayed puberty, Obesity, Abnormal dental enamel morphology ORPHA:251004
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Atrial septal defect, Type II diabetes ... ORPHA:398069
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Luscan-Lumish Syndrome
Hirsutism, Overgrowth, Polyphagia, Obesity, High anterior hairline OMIM:616831
Coproporphyria, Hereditary
Diarrhea, Constipation, Vomiting, Abdominal pain OMIM:121300
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:370
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Abdominal colic OMIM:615863
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... ORPHA:71212
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Obesity, Diabe... OMIM:615981
Immunodeficiency 31C
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections OMIM:614162
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Polyphagia, Highly arched eyebrow, Synophrys ORPHA:228402
Hyaline Fibromatosis Syndrome
Diarrhea, Recurrent infections OMIM:228600
Wilson Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... ORPHA:905
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... OMIM:261680
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Malnutrition OMIM:251850
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hypoglycemic seizure... OMIM:231530
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss ORPHA:70482
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Colitis, Recurrent fungal infections, Recurrent bacterial infecti... OMIM:209920
Hemochromatosis, Type 1
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogon... OMIM:235200
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Abdominal pain, Pancolitis, Vomiting, Chronic diarrhea, Esophagitis OMIM:619079
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Cholestasis, Hep... ORPHA:264580
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Polydipsia, Hypertrichosis, Ventricular septal defect, Preco... ORPHA:769
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Diarrhea, Recurrent infections, Recurrent pneumonia, Recurrent aphthous... OMIM:150550
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... ORPHA:739
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated... OMIM:617253
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Secretory diarrhea, Vomiting OMIM:600351
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Hypertriglycer... ORPHA:209902
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hypertrophic... OMIM:201475
Primary Peritoneal Carcinoma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting ORPHA:168829
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, Precocious... OMIM:176270
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent otitis ... OMIM:618495
Enterokinase Deficiency
Diarrhea OMIM:226200
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Abnormality of secondary sexual ha... ORPHA:759
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Hypertriglyceridemia, Diabetes mellitus, Obesit... ORPHA:412
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Reticular Dysgenesis
Sepsis, Diarrhea, Recurrent respiratory infections ORPHA:33355
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Increased body weight, Hepatomegaly, Jaundice ORPHA:890
Mitochondrial Dna Depletion Syndrome 11
Diarrhea, Recurrent infections, Nausea OMIM:615084
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Hypoglycem... OMIM:220111
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis OMIM:242850
Cog7-Cdg
Diarrhea, Recurrent infections, Feeding difficulties ORPHA:79333
Trisomy 18P
Polyphagia, Highly arched eyebrow ORPHA:1715
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... ORPHA:572
Chylomicron Retention Disease
Diarrhea, Malnutrition, Vomiting, Steatorrhea OMIM:246700
Citrullinemia Type Ii
Hyperlipidemia, Pancreatitis, Hepatomegaly, Delayed menarche, Hepatocellular carcinoma, Decreased... ORPHA:247585
Familial Chylomicronemia Syndrome
Failure to thrive, Decreased body weight, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pan... ORPHA:444490
Erythroderma Desquamativum
Diarrhea ORPHA:314
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... OMIM:615830
Diarrhea 12, With Microvillus Atrophy
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition OMIM:619445
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Hypertriglyceridemia, Hypopitu... OMIM:619013
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Abdominal pain, Nausea ORPHA:79457
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Recurrent respiratory infections OMIM:264350
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea, Recurrent respiratory infections ORPHA:90035
Chromosome 19P13.13 Deletion Syndrome
Constipation, Abdominal pain, Feeding difficulties, Diarrhea, Vomiting OMIM:613638
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Immunodeficiency 15B
Chronic diarrhea OMIM:615592
Porphyria Cutanea Tarda
Corneal scarring, Hypertrichosis, Hirsutism, Viral hepatitis, Periportal fibrosis, Chronic hepati... ORPHA:101330
Malonyl-Coa Decarboxylase Deficiency
Constipation, Abdominal pain, Diarrhea, Vomiting, Chronic constipation OMIM:248360
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic transaminase, Cardio... OMIM:617713
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Malnutrition, Feeding difficulties OMIM:619971
Immunodeficiency 57 With Autoinflammation
Diarrhea, Gastritis, Inflammation of the large intestine, Recurrent respiratory infections OMIM:618108
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Abnormal peristalsis, Vomiting, Decreased... OMIM:615237
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... ORPHA:94086
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Hypertriglyceridemia, Elevated circulating alanine aminot... OMIM:603471
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite ORPHA:352447
Hyperphosphatemia, Polyuria, And Seizures
Diarrhea, Vomiting OMIM:239350
Aromatase Deficiency
Generalized hirsutism, Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature... ORPHA:91
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Ventricul... ORPHA:228305
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea OMIM:613291
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis,... ORPHA:79303
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Colit... ORPHA:911
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... ORPHA:2959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated hepatic transaminase, Long eyelashes, Synophrys, Failure to thrive in infa... OMIM:619064
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Angelman Syndrome
Precocious puberty in females, Fair hair, Delayed menarche, Polyphagia, Dysphagia, Obesity ORPHA:72
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Biliary tract... ORPHA:3191
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Ventricular hyp... OMIM:212138
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... OMIM:116920
Ebola Hemorrhagic Fever
Melena, Abdominal pain, Sepsis, Diarrhea, Vomiting, Nausea, Dysphagia, Gastrointestinal hemorrhag... ORPHA:319218
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Small for... ORPHA:567983
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Diarrhea, Inflammation of the large intestine, Recurrent infections, ... OMIM:608809
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Omenn Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Diarrhea, Recurrent viral infections OMIM:603554
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Abdominal pain, Recurrent bacterial infections... ORPHA:486
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... ORPHA:2183
Hereditary Folate Malabsorption
Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Nausea and vomit... ORPHA:90045
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentration,... ORPHA:465508
Isolated Agammaglobulinemia
Sepsis, Diarrhea, Recurrent respiratory infections, Recurrent cutaneous abscess formation ORPHA:229717
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Enteric Anendocrinosis
Diarrhea, Vomiting ORPHA:83620
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Tall stature, Disproportionate tall stature, Inguinal hernia, Br... OMIM:236200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Atypical Werner Syndrome
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Wh... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepatic failure, Chronic... OMIM:613489
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Precocious puberty, Atrial septal defect, Hyperlipidemia, Ventricular sept... ORPHA:254346
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Recurrent pneumonia, Chronic diarrhea OMIM:300400
Immunodeficiency 14B, Autosomal Recessive
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... OMIM:619281
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia OMIM:612469
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... ORPHA:508
Congenital Toxoplasmosis
Hepatomegaly, Elevated hepatic transaminase, Jaundice, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Cachexia, Macrovesicula... ORPHA:298
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recur... OMIM:601495
Radiation Proctitis
Sepsis, Diarrhea, Hematochezia, Intestinal obstruction, Tenesmus ORPHA:70475
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure ORPHA:75234
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly OMIM:601165
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... ORPHA:100082
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Horizontal eyebrow, Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Ve... ORPHA:96121
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth ... ORPHA:293987
Weaver Syndrome
Joint contracture of the hand, Inguinal hernia, Sparse hair, Overgrowth, Camptodactyly, Polyphagi... OMIM:277590
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otit... OMIM:617475
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
1P36 Deletion Syndrome
Annular pancreas, Abnormal cardiac septum morphology, Failure to thrive, Abnormal eyebrow morphol... ORPHA:1606
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Chronic diarrhea, Recurrent otitis media OMIM:618523
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Mitral valve prolapse, Hypogonadism, Obesity, Low posterior hairline ORPHA:2233
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Fine hair, Polyphagia, Sparse hair ORPHA:251028
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Diarrhea, Recurre... OMIM:307200
Infantile Sialic Acid Storage Disease
Failure to thrive, Fair hair, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Sepsis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent lower ... OMIM:616100
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Botulism
Constipation, Abdominal pain, Xerostomia, Diarrhea, Dysphagia, Nausea and vomiting ORPHA:1267
Intellectual Developmental Disorder, Autosomal Dominant 1
Thick eyebrow, Polyphagia, Long eyelashes, Highly arched eyebrow, Low posterior hairline OMIM:156200
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia,... ORPHA:99901
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... OMIM:619487
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Porphyria
Constipation, Abdominal pain, Anorexia, Diarrhea, Nausea and vomiting ORPHA:738
Intestinal Botulism
Diarrhea, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:178481
Vascular Hyalinosis
Diarrhea, Hematochezia OMIM:277175
Dpm1-Cdg
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Camptodactyly, Elevated hepatic transaminase... ORPHA:79322
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Chronic diarrhea, Recurrent... OMIM:242700
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... OMIM:611126
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly OMIM:618838
Intellectual Developmental Disorder, Autosomal Dominant 51
Feeding difficulties, Poor suck, Chronic diarrhea, Recurrent otitis media, Chronic constipation OMIM:617788
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly, Alopecia OMIM:275630
Alg1-Cdg
Decreased liver function, Sepsis, Recurrent infections, Chronic diarrhea ORPHA:79327
Thymic Aplasia
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... ORPHA:83471
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Fucosidosis
Failure to thrive, Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Hypothyroidism, Car... ORPHA:349
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... OMIM:615486
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Patent foramen oval... OMIM:601005
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Foodborne Botulism
Constipation, Abdominal pain, Diarrhea, Xerostomia, Dysphagia, Nausea and vomiting ORPHA:228371
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis, Recurrent respiratory infections ORPHA:2575
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Sparse hair, Cardiomegaly OMIM:613576
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... ORPHA:71
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Sparse body hair,... ORPHA:2234
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Diarrhea ORPHA:178029
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... OMIM:608836
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Highly arched eyebrow, Dilated cardiomyopathy, ... ORPHA:401923
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Left ventricular hypertrophy, Hypoketotic hypoglycemia, Cholestasis, Failure ... ORPHA:746
Inhalational Botulism
Diarrhea, Nausea and vomiting, Xerostomia, Constipation ORPHA:254504
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Precocious puberty, Alopecia OMIM:604931
Adnp Syndrome
Sparse scalp hair, Hirsutism, Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Hig... ORPHA:404448
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea ORPHA:309108
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Recurrent upper respirat... ORPHA:263501
Autosomal Agammaglobulinemia
Sepsis, Diarrhea, Recurrent infections, Recurrent respiratory infections ORPHA:33110
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Diarrhea, Colitis, Chronic diarrhea OMIM:614602
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity, Hypogonadism OMIM:615985
Galactosemia
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting ORPHA:352
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Recurrent sinopulmonary infections OMIM:618394
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Recurrent infections OMIM:226300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia, A... ORPHA:228308
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Fasting hypogly... ORPHA:348
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Brittle hair, Chol... OMIM:124000
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Gracile Syndrome
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis ORPHA:53693
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Peritonitis, Diarrhea, Vomiting, Neonatal sepsis ORPHA:391673
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... OMIM:300972
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Microvesicular hepatic steatosis OMIM:610198
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Chronic diarrhea OMIM:607271
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... OMIM:239850
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... ORPHA:79240
Eosinophilic Gastroenteritis
Abdominal pain, Steatorrhea, Diarrhea, Vomiting, Hematochezia, Dysphagia ORPHA:2070
Lassa Fever
Abdominal pain, Sepsis, Diarrhea, Dysphagia, Nausea and vomiting ORPHA:99824
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Neuroendocrine Tumor Of The Colon
Melena, Bowel urgency, Bloody diarrhea, Abdominal pain, Hypoactive bowel sounds, Lack of bowel so... ORPHA:100080
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Episodic vomiting, Nausea ORPHA:100924
Immunodeficiency, Common Variable, 14
Recurrent sinusitis, Chronic diarrhea OMIM:617765
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... OMIM:613070
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Cardiomy... ORPHA:445038
Classic Galactosemia
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting ORPHA:79239
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Large for gestational age,... OMIM:616026
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Feeding difficulties, Diarrhea, Vomiting, Nausea, Reye syndrome-like episodes, Poor appetite ORPHA:927
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Mucopolysaccharidosis, Type Iiib
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Synophrys, Asymmetric septal hypertrophy, Car... OMIM:252920
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism,... ORPHA:77296
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism OMIM:619273
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure... OMIM:277900
Immunodeficiency 69
Diarrhea OMIM:618963
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Recurrent infections, Chronic diarrhea OMIM:619824
Visceral Myopathy 1
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Vomiting, Malnutrition, Dysphagia, ... OMIM:155310
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly, Cardiomyopathy OMIM:614922
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain ORPHA:99745
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus OMIM:610628
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Recurrent respiratory infections ORPHA:1842
Cutaneous Mastocytoma
Diarrhea, Vomiting, Abdominal pain, Nausea ORPHA:79455
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Nasogastric tube feeding, Vomiting ORPHA:289504
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Alopecia, Elevated hepatic transaminase, Hypertriglyceridem... ORPHA:98907
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Cardiomyopathy ORPHA:52430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea ORPHA:49827
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Synophrys, Hypercholesterolemia, Increase... OMIM:182290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... ORPHA:169154
Immunodeficiency 25
Recurrent candida infections, Protracted diarrhea, Recurrent pneumonia OMIM:610163
Rapadilino Syndrome
Diarrhea OMIM:266280
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Porphyria, Acute Intermittent
Paralytic ileus, Constipation, Abdominal pain, Diarrhea, Vomiting, Nausea OMIM:176000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physi... ORPHA:93111
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Early satiety, Constipation, Abdominal pain, Diarrhea, Vomiting, Gastroparesis,... OMIM:603041
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Failure to thrive, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis,... ORPHA:436271
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Splenomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Enamel hypoplasia, Cardiomegaly, Pericardial constriction OMIM:253250
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Nausea and vomiting, Chronic diarrhea, Abdominal pain ORPHA:65682
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Overgrowth, Ventricular septal defect, Large for gestational age, Umbi... ORPHA:254534
Polycystic Ovary Syndrome 1
Obesity, Hirsutism, Enlarged polycys