Gene Summary

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

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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 neutrophil cell number Krt8tm1b(EUCOMM)Hmgu HET Early adult 5.38×10-05
preweaning lethality, complete penetrance Krt8tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased exploration in new environment Krt8tm1b(EUCOMM)Hmgu HET Early adult 1.71×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Immunophenotyping

Panel A FCS file(s)

1 Images

Immunophenotyping

Panel B FCS file(s)

1 Images

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
Hematochezia, Stercoral ulcer, Anal fissure, Bloody diarrhea, Tenesmus, Chronic constipation, Dec... ORPHA:209964
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre... ORPHA:2869
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Lack of bowel... ORPHA:100093
Diarrhea 13
Vomiting, Elevated circulating hepatic transaminase concentration, Secretory diarrhea, Failure to... OMIM:620357
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Bronchiectasis, Exocrine pan... OMIM:219700
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Hepatic periportal necro... ORPHA:139507
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain ORPHA:33402
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin... OMIM:601847
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... ORPHA:75234
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hep... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Increased circulating lactate dehydrogenase concentration, Vomiting, Microangiopathic h... ORPHA:90038
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Neoplasm of th... OMIM:175200
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh... OMIM:231100
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia ORPHA:52416
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Wolman Disease
Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Acute hepatic failure, Splen... OMIM:620151
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Mpi-Cdg
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Failure to t... ORPHA:79319
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... ORPHA:3032
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina... OMIM:231530
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Diarrhea, A... ORPHA:71
Hepatoportal Sclerosis
Hypersplenism, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascites, Intrahepatic por... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:211600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomit... ORPHA:298
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain OMIM:260005
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Eleva... OMIM:618805
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper... ORPHA:251992
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepa... OMIM:614602
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Abnormal circulating enzyme concentration ... ORPHA:103907
Cystic Fibrosis
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Decreased body ... ORPHA:586
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Obesity, Azoospermia, Hepatic steatosis, Oligozoospermia, Infertility, ... OMIM:615703
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Failure to thriv... ORPHA:71212
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Feeding difficulties, Weight loss... OMIM:620045
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... OMIM:618963
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Acute hepatic failure, Hepatic s... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Failure to thrive, Pancytopenia, Hepatic steatosis, Hepatomegaly, Hype... OMIM:617872
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Failure to thrive, Abdominal colic, Abdominal pain, ... ORPHA:35122
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Cirrhosis, Hepatom... ORPHA:264580
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail... ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Congestive heart failure, Elevated circulating aspartate aminotransferase conc... OMIM:619048
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Villous atrophy, Abno... ORPHA:95427
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Abdominal colic, Villous atrophy OMIM:615863
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Failure to thri... OMIM:602579
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Trehalase Deficiency
Diarrhea, Vomiting, Abnormal circulating enzyme concentration or activity, Malabsorption, Abdomin... ORPHA:103909
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Bloody diarrhea, Feeding difficul... OMIM:615119
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop... OMIM:619164
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Failure to thrive, Hemophagocytosis, Hepatosplenomeg... OMIM:619858
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic phospho... OMIM:261750
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:613489
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... OMIM:616829
Galactosemia Iii
Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali... ORPHA:3386
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 27A
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma... OMIM:209950
Portal Hypertension, Noncirrhotic, 1
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... OMIM:617068
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephaliti... ORPHA:99745
Galactosemia I
Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Elevated circulating aspartate a... OMIM:230400
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100025
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Cachexia... ORPHA:75233
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ... OMIM:613490
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100082
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties ORPHA:79238
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi... OMIM:618495
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... OMIM:616100
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Hepatosplen... ORPHA:79333
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Failure to thrive, Hypertrophic cardiomyopathy, Elevate... OMIM:614582
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Elevated circulating alkaline phosphat... ORPHA:98850
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Reduced natural killer cell count, Secretory diarrhea, Failure to th... OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega... OMIM:612714
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin... OMIM:619868
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Neuroendocrine Tumor Of The Colon
Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ... ORPHA:100080
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive heart failure, Prot... ORPHA:67
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:300536
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Failure to thrive, Elevated ci... OMIM:615595
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... ORPHA:85450
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Elevated cir... ORPHA:2137
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:605911
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Patent Ductus Venosus
Persistent patent ductus venosus, Hepatic steatosis, Congenital portosystemic venous shunt, Decre... OMIM:601466
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Immunodeficiency 7
Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ... OMIM:615387
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive in infancy, ... ORPHA:858
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic car... OMIM:212140
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Anemia, Osteoarthritis, Hepatomegaly, I... OMIM:606069
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... ORPHA:1333
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep... ORPHA:99828
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Increased circulatin... ORPHA:26791
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Congestive heart failure, H... ORPHA:70472
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Short Chain Acyl-Coa Dehydrogenase Deficiency
Feeding difficulties, Failure to thrive, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... ORPHA:42642
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... ORPHA:824
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent infect... OMIM:615207
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... ORPHA:44890
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Cervical ... OMIM:142680
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Neonatal chol... OMIM:214900
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Spl... OMIM:612840
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenome... OMIM:607594
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gast... ORPHA:33276
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepatomegaly, Right ventricular ... ORPHA:100075
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Oligomenorrhea, Infertility, Hypertension ORPHA:280356
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Elevated total serum tryptase, Diarrhea, Vomiting, Maln... ORPHA:79456
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Folli... OMIM:240500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... OMIM:600649
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to thrive secondary to recurrent inf... ORPHA:169160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func... ORPHA:42
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Mal... ORPHA:79239
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly OMIM:612526
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... ORPHA:39812
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Reduced natural killer cell count, Failure to thri... OMIM:618108
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Diarrhea, Weight loss, Abdominal distention, Anorexia, ... ORPHA:100085
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Chol... OMIM:608104
Adrenomyodystrophy
Abnormal intestine morphology, Hepatic steatosis, Failure to thrive ORPHA:977
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Leigh Syndrome, Nuclear
Failure to thrive, Hepatocellular necrosis OMIM:256000
Sandhoff Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Abnormal glycosphingolipid metabolism,... ORPHA:796
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Intestinal polyposis, Lymphoid nodular hyperplasia ORPHA:210548
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, C... OMIM:615767
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Neonatal cholestatic liver disease, Splenomegal... ORPHA:1414
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ... ORPHA:33110
Medullary Thyroid Carcinoma
Diarrhea, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Dysphagia ORPHA:1332
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... ORPHA:398063
Attrv30M Amyloidosis
Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Constipa... ORPHA:85447
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Enteric Anendocrinosis
Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension ORPHA:83620
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Acute Liver Failure
Gastrointestinal hemorrhage, Hypotension, Elevated circulating hepatic transaminase concentration... ORPHA:90062
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, C... OMIM:609313
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascite... OMIM:226300
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Nausea, Hepatomegaly, J... OMIM:231680
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Elevated circulating alkaline p... ORPHA:275761
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med... ORPHA:229717
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, T lymphocytopenia, Hypoplasia of th... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph node germin... ORPHA:277
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology... ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Trimethylaminuria
Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s... OMIM:618234
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hypertension, Hepatic steatosis ORPHA:79084
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Feeding difficulties, Abnormal glycosphingolipid metabolism OMIM:611721
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:619386
Reticular Dysgenesis
Diarrhea, Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Skin ra... ORPHA:33355
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Vil... OMIM:304790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Otit... OMIM:601457
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:613327
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Abnormal bleeding, Hepatitis, Vomiting... ORPHA:319218
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia... OMIM:235510
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption, Decreased mucosal sucrase-isomaltase activity OMIM:222900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malab... OMIM:209920
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume... OMIM:127550
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Ileal Neuroendocrine Tumor
Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu... ORPHA:100078
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... OMIM:614162
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Familial Chylomicronemia Syndrome
Pulmonary embolism, Failure to thrive, Hepatosplenomegaly, Nausea and vomiting, Hepatic steatosis... ORPHA:444490
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Gastroesophageal reflux, Ascites, Right ventricular hypert... OMIM:613177
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Hepatomegaly, Midgut m... ORPHA:100079
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic failure, Microve... OMIM:613070
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Abnormal lymph no... ORPHA:911
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Uveitis, Anorexia, Malabsorption, Splenomegal... ORPHA:3452
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticuloc... OMIM:618278
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Anorexia, Abdominal pain, Purpura, Intestinal per... ORPHA:810
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Malabsorption, ... ORPHA:47
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic... OMIM:615895
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate... OMIM:255120
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Diarrhea, Inflammator... ORPHA:79332
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... OMIM:617638
Caspase 8 Deficiency
Pneumonia, Failure to thrive, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Lymph... OMIM:607271
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Accessory spleen, Vomiting, Failure to thrive, Polysplenia, Failure to... OMIM:619418
Sepsis In Premature Infants
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Jaundice, Tachy... ORPHA:90051
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Intermittent diarrhea, Feeding difficulties OMIM:620270
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of the menstrual cycle, Spleno... ORPHA:721
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Ppoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97278
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Immunodeficiency 19
Abnormal B cell morphology, Failure to thrive, Abnormal natural killer cell morphology, Recurrent... OMIM:615617
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
Boutonneuse Fever
Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphaden... ORPHA:83313
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pulmonary hemorrhage, Pancy... ORPHA:79124
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa... OMIM:619573
Dpm1-Cdg
High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, D... ORPHA:79322
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, A... OMIM:212750
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Failure to thrive OMIM:614265
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr... ORPHA:79083
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death OMIM:615918
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Dubowitz Syndrome
Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Malabsorption, Acute lymphoblas... ORPHA:235
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly ORPHA:77260
Interstitial Lung And Liver Disease
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Vomiting, Failure to... OMIM:615486
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abn... OMIM:613501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Prolonged bleeding following proced... ORPHA:79259
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia, Reduced beta-hexosaminidase activity ORPHA:309162
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... OMIM:619375
Harderoporphyria
Increased fecal harderoporphyrin, Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonge... OMIM:618892
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Abnormal CD4:CD8 ratio, Failure to thrive, Chronic mucocutaneous candidiasis, Protracte... ORPHA:572
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatosplenomegaly, H... OMIM:619013
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Leprechaunism
Megarectum, Failure to thrive, Hypertrophic cardiomyopathy, Decreased body weight, Enlarged ovari... ORPHA:508
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, T lymphocytopenia, Superficial ... OMIM:620632
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Uveitis, Congestive heart failure, ... ORPHA:727
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to t... OMIM:212065
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Elevated circulating asparta... OMIM:610198
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the... OMIM:603554
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa... OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... ORPHA:276
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertension, Hepatic steatosis OMIM:613877
Peritoneal Cystic Mesothelioma
Metrorrhagia, Peritonitis, Weight loss, Constipation, Dyspareunia, Abdominal distention, Abdomina... ORPHA:168816
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chain ac... OMIM:201450
Porphyria, Acute Intermittent
Diarrhea, Vomiting, Paralytic ileus, Nausea, Abdominal pain, Constipation, Reduced erythrocyte po... OMIM:176000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Membranoproliferative glomerulonephritis OMIM:608709
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Brunner Syndrome
Diarrhea OMIM:300615
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Weight loss, Acute myeloid leukemia, Neutrophilia, Hepatome... ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
Folate Malabsorption, Hereditary
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... OMIM:229050
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:618852
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Vomiting, Failure to thrive, Cerebral ischemia, Reye syndrome-like episodes, Hepatomega... ORPHA:927
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Atrophic gastri... OMIM:615846
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... OMIM:619971
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... ORPHA:231222
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ... OMIM:603552
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... ORPHA:330001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Anemia, Pancreati... ORPHA:79312
Obesity Due To Sim1 Deficiency
Memory impairment, Hyperinsulinemia, Glucose intolerance, Attention deficit hyperactivity disorde... ORPHA:369873
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Uveitis, Diarrhea, Vomiting, Bruising susceptibility, Erysipelas, Fasciitis, Leukocyt... ORPHA:32960
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Vasculitis, Diarrhea, Skin rash OMIM:601979
Grfoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97261
Lassa Fever
Menometrorrhagia, Diarrhea, Abnormal bleeding, Shock, Nausea and vomiting, Abdominal pain, Conjun... ORPHA:99824
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Congenital Generalized Lipodystrophy
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Amen... ORPHA:528
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul... ORPHA:91547
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Feeding difficulties OMIM:615010
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien... OMIM:607906
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Feeding difficul... OMIM:301056
Somatostatinoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97283
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Gastrointestinal infarction... ORPHA:91138
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting, Pancreatitis OMIM:620137
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Diarrhea... OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei... ORPHA:677
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... ORPHA:231226
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, ... ORPHA:549
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Failure to ... OMIM:617093
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin... ORPHA:342
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation ORPHA:231
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep... ORPHA:391
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Failure to thrive, Absence of lymph node germinal center, Hemolytic anemia, ... OMIM:308230
Symptomatic Form Of Hfe-Related Hemochromatosis
Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly, Abdominal pai... ORPHA:465508
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Pancrea... OMIM:251000
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz... OMIM:242700
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Neuromuscular dysphagia, Abnormal bleeding, Cardiogeni... ORPHA:449285
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Wei... OMIM:619381
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly... ORPHA:2414
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Elevated circulating al... OMIM:239300
Combined Malonic And Methylmalonic Acidemia
Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Nasogastric... ORPHA:289504
Yao Syndrome
Uveitis, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss, Kera... OMIM:617321
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Chronic otitis media, Bruising susceptibility, Leuko... ORPHA:3226
Glucagonoma
Diarrhea, Acanthocytosis, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hep... ORPHA:97280
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Pancytopenia, Leukope... ORPHA:507
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Intestinal malrotation,... ORPHA:244
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent... OMIM:619281
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:99901
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... OMIM:619487
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Lymphopenia, ... OMIM:602450
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:610377
Hypocomplementemic Urticarial Vasculitis
Uveitis, Diarrhea, Conjunctivitis, Ascites, Nausea and vomiting, Splenomegaly, Episcleritis, Skin... ORPHA:36412
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Female hypogonadism, Chronic mucocutaneous candidia... OMIM:240300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in... OMIM:606367
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr... ORPHA:2348
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Epistaxis, Menometrorrhagia, Gastroesophageal reflux, Bruising susceptibilit... ORPHA:285
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted... ORPHA:97287
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic... ORPHA:228305
Alg1-Cdg
Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin... ORPHA:79327
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... OMIM:614300
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia,... ORPHA:39041
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Diarrhea, Hepatitis, Failure to thrive, Nausea and vomiting, Macr... ORPHA:199299
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Diarrhea, Sinus tachycardia, Failure to ... ORPHA:525731
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation... ORPHA:499009
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Decrea... OMIM:615607
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Diarrhea, C... ORPHA:36426
Rat-Bite Fever
Diarrhea, Vomiting, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Abdominal asep... ORPHA:31205
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertension, Hepatic steatosis, Irregular menstruation OMIM:615238
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Large for gestationa... ORPHA:263455
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Pustule, Hypertension OMIM:616069
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Elevated cir... OMIM:620376
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory ... ORPHA:379
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he... OMIM:212138
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Mi... ORPHA:2959
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Decreased methionine synthase activity, Megaloblastic anem... OMIM:250940
Immunodeficiency 46
Failure to thrive, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis, Chronic diarrhe... OMIM:616740
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Vomiting, A... ORPHA:79325
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea, Shock, Ascites, Hypoactiv... ORPHA:391673
Mucopolysaccharidosis, Type Iiib
Diarrhea, Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepa... OMIM:252920
Hereditary Mixed Polyposis Syndrome