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Gene: Krt8 MGI:96705

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Gene Summary

Name:
keratin 8
Synonyms:
Card2,  Krt-2.8,  K8,  cytokeratin 8,  EndoA,  Krt2-8,  cytokeratin8,  cytokeratin-8

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Krt8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment Krt8tm1b(EUCOMM)Hmgu HET Early adult 1.64×10-05
increased prepulse inhibition Krt8tm1b(EUCOMM)Hmgu HET Early adult 3.71×10-05
improved glucose tolerance Krt8tm1b(EUCOMM)Hmgu HET Early adult 6.37×10-05
increased respiratory quotient Krt8tm1b(EUCOMM)Hmgu HET Early adult 4.27×10-06
increased neutrophil cell number Krt8tm1b(EUCOMM)Hmgu HET Early adult 5.38×10-05

Download data as:  TSV  XLS

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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

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

1 Images

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Human diseases caused by Krt8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Krt8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, A... ORPHA:2869
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... OMIM:619350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... ORPHA:2198
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Diarrhea, Hepatomegaly OMIM:261750
Trehalase Deficiency
Malabsorption, Abdominal distention, Abnormal enzyme/coenzyme activity, Abdominal pain, Diarrhea,... ORPHA:103909
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Pneumonia, Absenc... OMIM:269840
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Hepatomegaly, Vomiting OMIM:605911
Carcinoid Syndrome
Episodic abdominal pain, Tricuspid regurgitation, Lack of bowel sounds, Chronic noninfectious lym... ORPHA:100093
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media OMIM:615617
Blue Rubber Bleb Nevus
Intestinal bleeding, Intussusception, Volvulus, Iron deficiency anemia, Rectal prolapse, Thromboc... OMIM:112200
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Tachycardia, Vomiting, Increa... OMIM:121300
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Bilia... ORPHA:79301
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Juvenile Polyposis Syndrome
Failure to thrive, Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcin... OMIM:174900
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Failure to thrive, Pancreatitis, Hepatomegaly, Steatorr... OMIM:219700
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Vomiting, Pancytopenia, Hypogonadism, Hepatic s... OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... OMIM:602347
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy ORPHA:52416
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Abdominal pain, Vomiting, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:601847
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... ORPHA:75234
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Leukocytosis, Intussusception, Abdominal pain, Peri... ORPHA:90038
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Multiple gastric polyps, Intussus... OMIM:175200
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis, Feeding difficulties OMIM:615595
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... OMIM:231100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Necrotizing ... OMIM:201475
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:235555
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... ORPHA:42642
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abnormal enzyme/coenzyme activity, Abdominal pain... ORPHA:103907
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... ORPHA:65682
Sucrase-Isomaltase Deficiency, Congenital
Decreased mucosal sucrase-isomaltase activity, Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy OMIM:613217
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho... OMIM:606528
Chylomicron Retention Disease
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Elevate... ORPHA:71
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Diarrhea, Thrombocy... OMIM:618963
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Dia... ORPHA:79319
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... ORPHA:424016
5-Oxoprolinase Deficiency
Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Diarrhea, Vomiting OMIM:260005
Ganglioneuroma
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... ORPHA:251992
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... OMIM:614602
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... OMIM:618805
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Intestinal malrotation, Abnormal ... ORPHA:3032
Diarrhea 9
Failure to thrive, Villous atrophy, Diarrhea OMIM:618168
Hepatocellular Carcinoma
Hepatomegaly, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundice, Elevated hepatic ... ORPHA:88673
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Feeding difficulties ... OMIM:231530
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Myocardial infarction, Obesity, Azoospermia, Hepatic steatosis, Hypert... OMIM:615703
Enteric Anendocrinosis
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension ORPHA:83620
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Fa... OMIM:211600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Atrophic muscularis propria, Abdominal pain, Abdominal distention, Hyper... ORPHA:298
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... ORPHA:131
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
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, An... ORPHA:100025
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic failure, Diarrh... ORPHA:71212
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegal... OMIM:214900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Wilson Disease
Failure to thrive, Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Ci... ORPHA:905
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Dysmenorrhea, Splenomegaly, C... ORPHA:370
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... ORPHA:388
Aggressive Systemic Mastocytosis
Abdominal cramps, Elevated circulating alkaline phosphatase concentration, Maculopapular exanthem... ORPHA:98850
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... OMIM:617156
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... ORPHA:79303
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Abnormal bleeding, Diar... OMIM:602579
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Feeding diffi... OMIM:613489
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... ORPHA:2070
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Reye syndro... OMIM:256810
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Esophageal varix, Increase... ORPHA:264580
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of th... ORPHA:229717
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... OMIM:619858
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Stomach cancer, Splenomegaly, Anorexia, Cachexia, Di... ORPHA:2930
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abdominal ... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Diarrhea, Arrhythmia, Myocarditis, Cardiom... ORPHA:3386
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Galactosemia Iii
Failure to thrive, Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Vomiting, J... OMIM:230350
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Galactosemia
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic... ORPHA:352
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, C... OMIM:618234
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Eczema, Diarrhea, Autoimmune thrombocyt... OMIM:616100
Typhoid
Constipation, Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Epistaxis, Diarrhea, Arrhyth... ORPHA:99745
Folate Malabsorption, Hereditary
Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Neutrope... OMIM:229050
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Diffuse alveolar hemorrhage, Episodic ... OMIM:616050
Wolman Disease
Hepatomegaly, Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Cachexia, Esophag... ORPHA:75233
Cog7-Cdg
Failure to thrive, Hepatomegaly, Feeding difficulties, Small for gestational age, Hepatosplenomeg... ORPHA:79333
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recu... OMIM:618495
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Galactosemia I
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrho... OMIM:230400
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid OMIM:613291
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Feeding difficulties, Elevated circulating aspartate aminotransf... OMIM:614582
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension OMIM:617068
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Diarrhea, Neutropenia OMIM:613501
Neuroendocrine Tumor Of The Rectum
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... ORPHA:100082
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... OMIM:243150
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Galactose Epimerase Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly, Weight loss, Nausea and vomiting, Jaundice ORPHA:79238
Adrenomyodystrophy
Constipation, Chronic constipation, Hepatic steatosis OMIM:300270
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Diarrhea, Vomiting, Hypogonadism, Gastrointestinal hemorrhage, Weight lo... ORPHA:85450
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Ddost-Cdg
Failure to thrive, Gastroesophageal reflux, Constipation, Elevated hepatic transaminase, Hepatic ... ORPHA:300536
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Diarrhea, B lym... OMIM:607594
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Abdominal pai... ORPHA:1333
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... ORPHA:33110
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Elevated circulating alkaline phosphatase concentration, Leukocyt... ORPHA:67
Neuroendocrine Tumor Of The Colon
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Tricuspid regurgitation, Abdominal pain, Hy... ORPHA:100080
Immunodeficiency 31C
Lymphopenia, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hem... OMIM:614162
Patent Ductus Venosus
Congenital portosystemic venous shunt, Decreased liver function, Hepatic steatosis, Persistent pa... OMIM:601466
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... OMIM:619445
Dengue Fever
Petechiae, Hepatomegaly, Cerebral hemorrhage, Skin rash, Abdominal pain, Bruising susceptibility,... ORPHA:99828
Peroxisomal Acyl-Coa Oxidase Deficiency
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, In... OMIM:615237
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... OMIM:619849
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix, ... OMIM:613490
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Cardiomyopathy, Feeding difficulties ORPHA:26792
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Pulmonic stenosis, Cholestasis, Elevated hepatic tra... OMIM:614300
Hemochromatosis, Type 4
Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia, Anemia, Hepatic steatosis, Cardio... OMIM:606069
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Decreased carnitine lev... OMIM:212140
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Sudden cardiac death ORPHA:770
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Otitis media, Anorexia, Hepatosplenomegaly, Diarrhea, Eosi... ORPHA:169160
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... ORPHA:26790
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, ... OMIM:226300
Congenital Toxoplasmosis
Hepatomegaly, Diarrhea, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphad... ORPHA:858
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Feeding difficulties, Arrhythmia, Vomiting, Increased cir... ORPHA:26791
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... OMIM:619484
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... OMIM:603471
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Abnormal enzyme/coenzyme ac... ORPHA:70472
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent o... OMIM:614379
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomyopathy OMIM:610717
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Anorexia, Diarrhea, Vomiting, Shock, Neutropenia, Abnormal intestine morphology, Secretory diarrhea OMIM:600351
Autoimmune Hepatitis
Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing ch... ORPHA:2137
Immunodeficiency 56
Failure to thrive, Recurrent otitis media, Recurrent infection of the gastrointestinal tract, Chr... OMIM:615207
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Diarrhea, Follicular hyperplasia, Recurrent sinusitis, Recurrent pneu... OMIM:240500
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Extramedullary hematopoiesis, Hepatospl... OMIM:612840
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Hepatomegaly, Hepatic amyloidosis, Skin rash, Abdominal pain, Cervical lymphadeno... OMIM:142680
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... OMIM:602390
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... OMIM:615438
Kaposi Sarcoma
Skin rash, Diarrhea, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Genera... ORPHA:33276
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Extramedullary hematopoiesis, Hepatospl... ORPHA:824
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, T lymphocytopeni... OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Pulmonary insuff... ORPHA:277
Osteootohepatoenteric Syndrome
Failure to thrive, Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, Ileoileal... OMIM:619377
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... OMIM:615710
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, B lymphocytopenia, Inflammation of the large i... OMIM:618108
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Neonatal death, Nausea, Hepatic periportal necrosis, Hepatic st... OMIM:231680
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... ORPHA:79456
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... OMIM:613313
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... OMIM:608104
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Pustule, Diarrhea, Vomiting, Recurrent pneumonia, Hypertension OMIM:616069
Neuroendocrine Tumor Of Stomach
Melena, Bowel urgency, Hepatomegaly, Hepatic failure, Facial telangiectasia, Weight loss, Poor ap... ORPHA:100075
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hepatic steatosis OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Hepatic fibrosis, Hypertension, Hepatic steatosis ORPHA:280356
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... ORPHA:398063
Adrenomyodystrophy
Failure to thrive, Abnormal intestine morphology, Hepatic steatosis ORPHA:977
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Abnormality ... ORPHA:47
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine, Decreas... OMIM:615767
Graft Versus Host Disease
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... ORPHA:39812
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Diarrhea, Hepatic cysts, Heart murmur, Facial telangiectasia, Weight loss, Right ve... ORPHA:100085
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Whipple Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Diarrhea, Mediasti... ORPHA:3452
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Diarrhea, ... OMIM:603554
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Vascular Hyalinosis
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy OMIM:277175
Classic Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic failure, Primary a... ORPHA:79239
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... OMIM:619481
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Leigh Syndrome
Hepatocellular necrosis, Failure to thrive OMIM:256000
Attrv30M Amyloidosis
Impotence, Constipation, Atrioventricular block, Diarrhea, Arrhythmia, Weight loss, Cardiomyopath... ORPHA:85447
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Cachexia, Diarrhea, Arrhythmia, Vomiting, Elevated hepati... ORPHA:42
Acute Liver Failure
Hepatocellular necrosis, Skin rash, Bruising susceptibility, Abnormal bleeding, Intracranial hemo... ORPHA:90062
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Diarrhea, Arrhythmia, Feeding difficulties in infancy, Elevated hepatic transaminas... OMIM:255120
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Arthritis, Intestinal obstructio... ORPHA:343
Proprotein Convertase 1/3 Deficiency
Malabsorption, Hypogonadotropic hypogonadism, Diarrhea, Primary amenorrhea, Villous atrophy, Obesity OMIM:600955
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Intest... ORPHA:263665
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Nausea and vomiting, Abnormality of the ly... ORPHA:1414
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Abnormality of the lympha... ORPHA:54251
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Diarrhea, Neonatal death, Cholestasis, Hepatic fibrosis, Jejunal atresia, Microcolon, ... OMIM:609313
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Increased circulating lactate dehydroge... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Anorexia, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:619386
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... OMIM:209920
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy ORPHA:86893
Familial Chylomicronemia Syndrome
Failure to thrive, Decreased body weight, Episodic abdominal pain, Jaundice, Hepatosplenomegaly, ... ORPHA:444490
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Abdominal pain, Congenital hepatic fibrosis ORPHA:139491
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Decreased mean corpuscular volume, Failure to thrive, Microvesicular hep... OMIM:618278
Ileal Neuroendocrine Tumor
Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight loss, Extrahepatic cholest... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight loss, Extrahepatic cholest... ORPHA:100077
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... OMIM:614921
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T... OMIM:300400
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Gaucher Disease, Type Ii
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration pneumon... OMIM:230900
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic derm... OMIM:618999
Lysosomal Acid Lipase Deficiency
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Diarrhea, ... ORPHA:275761
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... OMIM:304790
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Elevated circulating alkaline phosphatase conc... ORPHA:263501
Ebola Hemorrhagic Fever
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Maculopapular exanthema, Leukopenia, Diar... ORPHA:319218
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pleural lymphangiectasia, Erysipelas, Rectal prolapse, Protein-losing enteropathy,... OMIM:235510
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastr... ORPHA:911
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... OMIM:175500
Sandhoff Disease
Failure to thrive, Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Failure to thrive, Hepatomegaly, Constipation, Feeding difficulties, Splenomegaly, Tachyca... OMIM:613327
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Malnutrition OMIM:246700
Visceral Myopathy 1
Constipation, Pancreatitis, Abdominal pain, Abdominal distention, Diarrhea, Megaduodenum, Vomitin... OMIM:155310
Aa Amyloidosis
Malabsorption, Hepatomegaly, Abdominal pain, Vomiting, Cholestasis, Enlarged kidney, Hypotension,... ORPHA:85445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis,... OMIM:235200
Ppoma
Cholelithiasis, Hepatomegaly, Constipation, Intestinal carcinoid, Diarrhea, Neoplasm of the small... ORPHA:97278
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Vomiting, Cholestasis, Myocarditis, Uv... ORPHA:810
Glucose/Galactose Malabsorption
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Hepatomegaly, Constipation, Tricuspid stenosis, Intestinal carcinoid, Heart murmur... ORPHA:100079
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of the menstrual cycle, Thr... ORPHA:721
Familial Mediterranean Fever
Pancreatitis, Constipation, Diarrhea, Myocardial infarction, Pericarditis, Malabsorption, Splenom... ORPHA:342
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Delayed menarche, Hepatocellular carcinoma, Diarrhea, Vomiting, Decre... ORPHA:247585
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Lymphadenitis, Eczem... OMIM:615895
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocel... ORPHA:79240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Diarrhea, B lymphocytopenia, Intermittent thrombocytopeni... OMIM:150550
Sepsis In Premature Infants
Hepatomegaly, Diarrhea, Vomiting, Gastrointestinal dysmotility, Jaundice, Decreased body weight, ... ORPHA:90051
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopap... OMIM:619644
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... OMIM:613101
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Diarrhea, Absence of lymph node ge... ORPHA:79124
Dubowitz Syndrome
High palate, Malabsorption, Eczema, Thrombocytopenia, Abnormality of neutrophils, Rectal prolapse... ORPHA:235
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Abdominal distention, Acute hepatic failure, Macr... OMIM:613070
Wild Type Attr Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypertrophic cardiomyopath... ORPHA:330001
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy ORPHA:98293
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... OMIM:619418
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Failure to thrive, Sinusitis, Neutropenia, Neutropenia in presence of anti-ne... ORPHA:572
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy ORPHA:56425
Caspase 8 Deficiency
Failure to thrive, Splenomegaly, Eczema, Chronic diarrhea, Pneumonia, Lymphadenopathy, Decreased ... OMIM:607271
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Eczema, Diarrhea, Inflammation of the large intest... OMIM:608809
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... OMIM:603041
B4Galt1-Cdg
Inflammatory abnormality of the skin, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomega... ORPHA:79332
Boutonneuse Fever
Petechiae, Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... ORPHA:83313
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Leprechaunism
Failure to thrive, Decreased body weight, Hepatomegaly, Abdominal distention, Enlarged kidney, En... ORPHA:508
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Primary amenorrhea, Oligomenor... ORPHA:79083
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis OMIM:614328
Gaucher Disease Type 2
Dysphagia, Cardiac arrest, Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... OMIM:619573
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Sple... OMIM:300972
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea, Hepatic steatosis OMIM:613877
Isolated Biliary Atresia
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Elevated circulat... ORPHA:30391
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Abdominal pain, Subcutaneous hemorrhage, Peritonitis, Diarrhe... ORPHA:727
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:614576
Peritoneal Cystic Mesothelioma
Constipation, Dyspareunia, Abdominal distention, Metrorrhagia, Abdominal pain, Peritonitis, Menor... ORPHA:168816
Combined Saposin Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:611721
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma... ORPHA:79259
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Tube feeding, Lymphopenia, Eczema, Vomiting, T lymphocytopenia, Villous atrophy, ... OMIM:619510
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Diarrhea, Elevated total serum tryptase, Weight loss, Lymphadenopathy... ORPHA:98849
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Constipation, Orchitis, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Peritonitis, Diarr... ORPHA:32960
Celiac Disease, Susceptibility To, 1
Infertility, Failure to thrive, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarrh... OMIM:212750
Dpm1-Cdg
Failure to thrive, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Diarrhea, Elevated hepa... ORPHA:79322
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transami... ORPHA:541423
Grfoma
Cholelithiasis, Hepatomegaly, Constipation, Intestinal carcinoid, Diarrhea, Neoplasm of the thymu... ORPHA:97261
Primary Lipodystrophy
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhagia, Hypertension, Hepatic s... ORPHA:90970
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... ORPHA:37042
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Constipation, Splenomegaly, Elevated cir... OMIM:257200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent bacterial skin infections, Failure to thrive, He... ORPHA:276
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Feeding difficulties, Intermittent diarrhea, Recurrent aspiration pneumo... OMIM:619971
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... ORPHA:77297
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Somatostatinoma
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Neoplasm of the small intestine, Gastrointesti... ORPHA:97283
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting,... OMIM:212065
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... ORPHA:101330
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chronic oral candidiasis,... OMIM:240300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Feeding difficulties in infancy, Elevated hepatic transaminase, Microcytic an... OMIM:619013
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Abdominal pain, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenop... OMIM:618852
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Lymphadenopathy, Colitis, Splenomegaly, Infl... OMIM:614700
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Chronic diarrhea,... OMIM:618394
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss OMIM:612075
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Diarrhea, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Weight loss, Blo... OMIM:615846
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... OMIM:615486
Brunner Syndrome
Diarrhea OMIM:300615
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Eczematoid dermatitis, Recurrent infection ... ORPHA:83471
Glucagonoma
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Glossitis, Gastrointestinal hemorrhage, Weight... ORPHA:97280
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutro... OMIM:603552
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Dracunculiasis
Skin rash, Diarrhea, Arthritis, Nausea and vomiting, Recurrent cutaneous abscess formation ORPHA:231
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Vomiting OMIM:201450
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Diarrhea, Hepatomegaly, Skin rash OMIM:601979
Congenital Disorder Of Glycosylation, Type Ii
High palate, Decreased body weight, Gastroesophageal reflux, Hepatomegaly, Diarrhea, Nasogastric ... OMIM:607906
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Porphyria, Acute Intermittent
Paralytic ileus, Constipation, Abdominal pain, Diarrhea, Hepatocellular carcinoma, Vomiting, Tach... OMIM:176000
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Hepatomegaly, Macroglossia, Cirrhosis, Oligomenorrhea, Hypertrophi... ORPHA:528
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hepatomegaly, Feeding difficulties, Diarrhea, Vomiting, Cerebral ischemia, Nau... ORPHA:927
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Abdominal pain... ORPHA:79312
Cryoglobulinemic Vasculitis
Petechiae, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediastinal lymphadenopat... ORPHA:91138
Myopathy, Myofibrillar, 1
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death OMIM:615918
Legionnaires Disease
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,... ORPHA:549
Lassa Fever
Conjunctivitis, Abdominal pain, Abnormal bleeding, Diarrhea, Shock, Menometrorrhagia, Dysphagia, ... ORPHA:99824
Indolent Systemic Mastocytosis
Abdominal cramps, Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopap... ORPHA:98848
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... ORPHA:100076
Relapsing Fever
Neutrophilia, Leukocytosis, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Tachycardia,... ORPHA:91547
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Abnormal bleeding, Intracranial hemorrhage, Diar... ORPHA:449285
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux OMIM:613177
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... ORPHA:3226
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss,... OMIM:619381
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... ORPHA:231226
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Leishmaniasis
Hepatomegaly, Rhinitis, Splenomegaly, Anorexia, Abnormal bleeding, Leukopenia, Abnormal macrophag... ORPHA:507
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Nasogastric tube feeding, Vomiting, Elevated hepatic transaminase, Intermitten... ORPHA:289504
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Abdominal pain, Sp... ORPHA:465508
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Immunodeficiency 14B, Autosomal Recessive
Colitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, B lymphocy... OMIM:619281
Hereditary Mixed Polyposis Syndrome
Neoplasm of the rectum, Adenomatous colonic polyposis, Intussusception, Hyperplastic colonic poly... ORPHA:157794
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Feeding difficulties, Left ventricular hypertrophy, Hepatospleno... OMIM:619487
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Sinusitis, Macroglossia, Diarrhea, T lymphocytopenia, Protrudin... OMIM:242860
Familial Mediterranean Fever
Crohn's disease, Orchitis, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Episodic abdom... OMIM:249100
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostomia, Keratoconj... OMIM:617321
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T ce... OMIM:242700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Constipation, Elevated circulating alkaline phosphatase concentration, Cleft palate, Feeding diff... OMIM:239300
Primary Ciliary Dyskinesia
Female infertility, Intestinal malrotation, Chronic otitis media, Chronic rhinitis, Male infertil... ORPHA:244
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Chronic oral candidiasis, Enlarged tonsils, Hepatosplenomegaly, Eczema, B lymphocyto... OMIM:606367
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Diarrhea, Weight loss, Patent ductus arteriosus, Anemia, Hypertr... ORPHA:1842
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Retinal hemorrh... ORPHA:33226
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... ORPHA:1572
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... OMIM:619652
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Anorexia, Bone marrow hypocellularity, Weight loss, Lympha... ORPHA:391
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrho... OMIM:308230
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Hypertrophic cardio... ORPHA:2348
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Hepatomegaly, Small for gestational age, Pulmonic stenosis, L... OMIM:301056
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeni... OMIM:618935
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... ORPHA:379
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Cerebellar hemorrhage, Acute hepatic failure, Hypertrophic cardiomyopathy, Sud... ORPHA:99901
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Rat-Bite Fever
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... ORPHA:31205
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Omenn Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... ORPHA:39041
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Diarrhea, Arthrit... ORPHA:36412
Pediatric-Onset Graves Disease
Keratitis, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly,... ORPHA:525731
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Mastocytosis
Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Arrhythmia, Hypotensi... ORPHA:98292
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Vomiting, Thromboc... OMIM:557000
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Hepatic steatosis, Hepatomegaly, Hypertension OMIM:615238
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Fluctuating splenomegaly, Leukocy... OMIM:610377
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Late-Onset Isolated Acth Deficiency
Failure to thrive, Constipation, Abdominal pain, Anorexia, Orthostatic hypotension, Eosinophilia,... ORPHA:199299
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, S... ORPHA:729
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Episodic abdominal pain, Hepatic failure, Arrhythmia, Elevated hepatic transaminase... ORPHA:228305
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Supraventricular arrhythmia, Gastroesophageal reflux, Small for gestati... ORPHA:2959
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Monosomy 13Q34
Metrorrhagia, Pulmonic stenosis, Hematochezia, Obesity, Hepatic steatosis, Epistaxis, Prolonged p... ORPHA:96168
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Lymphopenia, Recurrent infection of the gastrointestinal tract, Chronic oral ... ORPHA:35078
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Abnormal enzyme/coenzyme activity, Myeloproli... ORPHA:100924
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Classical Ehlers-Danlos Syndrome
Abnormal heart valve physiology, Gastroesophageal reflux, Hiatus hernia, Bruising susceptibility,... ORPHA:287
Alg1-Cdg
Decreased liver function, Abnormality of the gastrointestinal tract, Protein-losing enteropathy, ... ORPHA:79327
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... ORPHA:231214
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... ORPHA:263455
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... OMIM:619824
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, ... ORPHA:2414
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Abdominal distention, Intestinal atresia, Intestinal malrotation, Hypoplasia of ... ORPHA:436252
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Colitis, Hemophagocytosis, Spl... ORPHA:540
Pancreatoblastoma
Abdominal distention, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Vomiting, Weight ... ORPHA:677
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, B lymphocytopenia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Abno... OMIM:612692
Necrotizing Enterocolitis
Bloody diarrhea, Abdominal distention, Leukocytosis, Small for gestational age, Peritonitis, Diar... ORPHA:391673
Neonatal Lupus Erythematosus
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Aplastic anemia, Abnormal electrophysiolo... ORPHA:398124
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Anorexia, Leukopenia, Hemolytic anemia, Myocardial i... ORPHA:108
Bronchial Neuroendocrine Tumor
Bowel urgency, Hepatomegaly, Tricuspid regurgitation, Hepatic failure, Anorexia, Chronic noninfec... ORPHA:97287
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia OMIM:607685
Alg8-Cdg
Failure to thrive, Macroglossia, Feeding difficulties, Small for gestational age, Diarrhea, Abnor... ORPHA:79325
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Neu... OMIM:616740
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedullary hematopoiesis, Spontaneou... ORPHA:822
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Low alkaline phosphatase, Hypogonadism, ... OMIM:201100
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transamina... OMIM:610333
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hypertension, Hepatic steatosis OMIM:615980
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Hepatomegaly, Lymphopenia, Sk... OMIM:102700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Lymphocytosis, Skin rash, Abdominal pain, Diarrhea, Inflammation of t... OMIM:301074
Immunodeficiency 17