Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
GDP-L-fucose synthase
Synonyms:
Tsta3,  Tstap35b,  FX

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Gfus 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 Gfus by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... OMIM:616868
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Feeding difficulties, Nausea and vomiting, Splenomegaly, Hyperammonemia, Lethargy, Panc... ORPHA:79312
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hyperammonemia, Lethargy, Anemia, Dehydration ORPHA:28
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Abnormal circulating ... ORPHA:103910
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Crohn's disease, Dec... OMIM:615767
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Prolinuria, Enterocolitis, Abdominal pain, Increased level of L-pyroglutamic ... OMIM:260005
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Rec... ORPHA:90038
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l... OMIM:619164
Reticular Dysgenesis
Diarrhea, Leukopenia, Malabsorption, Skin rash, Anemia, Abnormality of neutrophils, Chronic otiti... ORPHA:33355
Angioedema, Hereditary, 8
Facial edema, Diarrhea, Angioedema, Laryngeal edema, Edema of the dorsum of hands, Episodic vomit... OMIM:619367
Isovaleric Acidemia
Hyperglycinuria, Vomiting, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia, Elevated urinary... OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Nausea and vomiting, Hyperammonemia, Macrocytic anemia, Lethargy, Pancreatitis, Throm... ORPHA:27
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... ORPHA:810
Propionic Acidemia
Hyperglycinuria, Vomiting, Eczematoid dermatitis, Pancytopenia, Hyperglycinemia, Hyperammonemia, ... OMIM:606054
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... OMIM:617638
Severe Canavan Disease
Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto... ORPHA:314911
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Ascite... OMIM:608104
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomeruloneph... OMIM:617006
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... OMIM:616050
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat... OMIM:604416
Central Diabetes Insipidus
Diarrhea, Depression, Nausea and vomiting, Hyponatremia, Lethargy, Anorexia, Dehydration ORPHA:178029
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Skin rash, Peri... OMIM:618108
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Leukopenia, Feeding difficulties, Hyperglycinemia, Hyperammonemia, Lethargy, ... OMIM:251000
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Chronic Hiccup
Depression, Dehydration, Malnutrition ORPHA:396
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Sinusitis, Neutrope... ORPHA:33110
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Dehydration OMIM:610370
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Diarrhea, Vomiting, Abnormal intestine morphology, Feeding difficultie... OMIM:606528
Alpha-Methylacetoacetic Aciduria
Vomiting, Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration OMIM:203750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy... OMIM:615863
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Early Myoclonic Encephalopathy
Lethargy, Dysphagia, Feeding difficulties, Poor suck ORPHA:1935
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Pleural effusion, ... ORPHA:67
Classic Galactosemia
Hepatic failure, Depression, Diarrhea, Vomiting, Male infertility, Ascites, Cryptorchidism, Letha... ORPHA:79239
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Villous atrophy, M... OMIM:557000
Coproporphyria, Hereditary
Diarrhea, Depression, Increased fecal coproporphyrin 3, Vomiting, Splenomegaly, Increased fecal c... OMIM:121300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Methylmalonic Aciduria, Cblb Type
Vomiting, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, H... OMIM:251110
Combined Malonic And Methylmalonic Acidemia
Vomiting, Nasogastric tube feeding, Dicarboxylic acidemia, Intermittent diarrhea, Dehydration, Me... ORPHA:289504
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Vomiting, Decreased circulating carnitine conce... ORPHA:79159
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Nausea and vomiting, Skin rash, Letha... ORPHA:99828
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hy... ORPHA:98813
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... OMIM:618969
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Malabsorption, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria OMIM:238750
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:602390
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk... ORPHA:319218
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta... OMIM:616098
Rabies
Diarrhea, Depression, Nausea and vomiting, Anorexia ORPHA:770
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Elevated circulating propionylcarnitine concentration, F... OMIM:614857
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hyperammonemia, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Generalized edema, Diarrhea, Vomiting, Intestinal lymphangiectasia, Ascites, Mal... OMIM:226300
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Pustule, Polyhydramnios, Dehydration OMIM:616069
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Increased serum bile acid... OMIM:619377
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Oligozoospermia, Dyspepsia, Abdominal pain,... ORPHA:85450
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Abdominal distention, Polyhydra... OMIM:620045
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Vomiting, Diarrhea, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomoc... OMIM:250940
Necrotizing Enterocolitis
Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Ascites, Leukocytosis, Hyponat... ORPHA:391673
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Methylmalonic Aciduria, Cbla Type
Vomiting, Pancytopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Feeding difficulties in infanc... OMIM:251100
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan... OMIM:618963
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Elevated circu... OMIM:212140
Idiopathic Congenital Hypothyroidism
Facial edema, Neonatal hyperbilirubinemia, Lethargy, Constipation, Feeding difficulties in infanc... ORPHA:95717
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating creatinine concentration, Pancytopenia, Increased... OMIM:617872
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Premature ovarian insufficiency, Nause... ORPHA:199299
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Depression, Viral hepatitis, In... ORPHA:2137
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... ORPHA:911
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Vomiting ORPHA:622
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Lethargy... ORPHA:99745
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Lethargy, Dysphagia OMIM:613561
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Edema, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Apathy, Thrombo... ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Feeding difficulties, Episodic vomiting OMIM:618224
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash, Feeding difficulties ORPHA:26
Chylomicron Retention Disease
Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Malnutrition, Hypocholesterolemia, Accu... OMIM:246700
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Feeding difficulties in infancy, Edema, Neonatal death OMIM:610498
Relapsing Fever
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Leu... ORPHA:91547
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce... OMIM:277380
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Dehydration, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Letharg... ORPHA:20
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Hyperammonemia, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalani... ORPHA:927
Porphyria Due To Ala Dehydratase Deficiency
Depression, Diarrhea, Increased fecal coproporphyrin 3, Abnormal circulating porphyrin concentrat... ORPHA:100924
Cyclic Vomiting Syndrome
Vomiting, Nausea, Lethargy, Gastrointestinal dysmotility, Anorexia, Abdominal pain OMIM:500007
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Hypercholesterolemia, Hypertriglyce... ORPHA:75234
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Deh... ORPHA:2290
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Lymphedema, Furrowed tongue, Stomach cancer, Intestinal pol... ORPHA:2930
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Eczematoid dermatitis, Intestinal lymphangiectasia, Elevated haptoglobin level, ... OMIM:620632
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, ... OMIM:614602
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis... ORPHA:35122
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Cryptorchidism, Dehydration OMIM:618958
Citrullinemia Type I
Hepatic failure, Vomiting, Gastroesophageal reflux, Hyperammonemia, Lethargy, Elevated plasma cit... ORPHA:247525
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... ORPHA:298
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Polyhydramnios, Abdominal pain, Hig... OMIM:616809
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Feeding difficulties, Fatal liv... ORPHA:275761
Hypercalcemia, Infantile, 1
Lethargy, Vomiting, Hypercalcemia, Dehydration OMIM:143880
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystin... OMIM:251120
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption, Dehydration ORPHA:83620
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Homocystinuria, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocy... OMIM:236270
Developmental And Epileptic Encephalopathy 92
Lethargy, Feeding difficulties OMIM:617829
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Anorexia, Abdominal pain, Elevated ... ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal fi... OMIM:618935
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Ascites, Anorexia, Hepatosplenom... ORPHA:98850
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Infertility, Decre... ORPHA:465508
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Hypereosinophili... OMIM:256500
Hirschsprung Disease
Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nausea and ... ORPHA:388
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties... OMIM:229050
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Vomiting, Hyperammonemia, Lethargy, Low plasma citrulline, Protein avoidance, Hypoargininemia, Ce... OMIM:237300
Developmental And Epileptic Encephalopathy 40
Lethargy, Feeding difficulties OMIM:617065
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Feeding difficulties ORPHA:26792
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Thrombotic Thrombocytopenic Purpura
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum c... ORPHA:54057
Wolcott-Rallison Syndrome
Hypoalbuminemia, Ascites, Acute hepatic failure, Exocrine pancreatic insufficiency, Hyperbilirubi... ORPHA:1667
Glycine Encephalopathy 1
Hyperglycinuria, Lethargy, Hyperglycinemia OMIM:605899
Citrullinemia Type Ii
Hypoalbuminemia, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Delayed menarche, H... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Elevated circulating creatine kinase concentrati... OMIM:619386
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Inflammatory abnormality of the s... ORPHA:398063
Cyclic Neutropenia
Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Enterocolitis, Pe... ORPHA:2686
Pontocerebellar Hypoplasia, Type 6
Gastroesophageal reflux, Lethargy, Narrow palate, Feeding difficulties, Poor suck OMIM:611523
Cholera
Diarrhea, Vomiting, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypokal... ORPHA:173
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Dopamine Beta-Hydroxylase Deficiency
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Increased blood urea nitrogen,... ORPHA:230
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration OMIM:264350
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Vomiting, Decrease... ORPHA:2394
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Pancytopenia, Splenomegaly, Elevated circulating creatine ki... OMIM:614576
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastr... OMIM:174900
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ... ORPHA:36234
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Hypernatremia, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdo... ORPHA:35710
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... OMIM:616100
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, I... OMIM:209950
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Bronchiectasis, Male infertility, Exocrine pancreatic insufficienc... OMIM:219700
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Elevated stool chloride content, Hypokalemia, Hyponatremia, Abdominal distent... OMIM:214700
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Intestinal ... ORPHA:90362
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... OMIM:201475
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ... ORPHA:486
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T cell morpho... OMIM:613501
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circ... OMIM:177735
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Abnormal erythrocyte morphology ORPHA:71277
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Feeding difficulties, Increased serum pyruvate, Decreased liver function OMIM:246900
Gaba-Transaminase Deficiency
Lethargy, Feeding difficulties OMIM:613163
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Ch... OMIM:615285
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconjunctivitis... ORPHA:79242
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Reduced natural killer cell count, Oral leukoplakia, Pancyto... OMIM:620133
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia OMIM:617056
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy... OMIM:618999
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia, Apathy, E... OMIM:246450
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Elevated circulat... OMIM:619381
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocyt... OMIM:615895
Hereditary Central Diabetes Insipidus
Diarrhea, Lethargy, Vomiting ORPHA:30925
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Hyperphenylalaninemia, Dysphagia, Feeding difficulties, Poor suck OMIM:233910
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Otitis media, Skin rash, Infl... ORPHA:229717
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Polyhydramnios, Recurrent aspiration pneumonia, Intermitte... OMIM:619971
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Feeding difficulties, Skin rash, Letharg... ORPHA:79284
Familial Thyroid Dyshormonogenesis
Facial edema, Neonatal hyperbilirubinemia, Goiter, Lethargy, Feeding difficulties in infancy, Con... ORPHA:95716
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Vomiting, Osteomyelitis, Pustule, Hyponatremia, Feeding diffic... ORPHA:171876
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy, Constipation, Goiter OMIM:274400
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Pleural empyema, Intestinal perforation, Gastrointestinal... ORPHA:544482
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Decreased liver function, Increased circulating ferritin conce... ORPHA:540
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Decreased liver function, Dehydration, Neonatal death OMIM:602199
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Vomiting, Dysphagia, Episodic vomiting OMIM:618226
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
Vipoma
Increased circulating prolactin concentration, Nausea and vomiting, Elevated circulating growth h... ORPHA:97282
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis, Dehydration ORPHA:47045
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Pulmonary edema, Helicobacter ... ORPHA:275555
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Esophageal stenosis OMIM:615190
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Lethargy, Acute infectious pneumonia, Neut... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Vomiting, Increased serum pyruvate OMIM:618225
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Anorexia, Decreased mean corpuscular ... OMIM:611590
Galactosemia I
Aminoaciduria, Increased level of galactitol in red blood cells, Vomiting, Diarrhea, Decreased li... OMIM:230400
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Hypogonadism, Lethargy, Abnormality of iron homeost... ORPHA:79230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hyperammonemia, Lethargy, Protein avoidance, Episodi... OMIM:238970
Methylcobalamin Deficiency Type Cble
Vomiting, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, ... ORPHA:2169
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Transcobalamin Ii Deficiency
Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Lethargy, Reticulocyto... OMIM:275350
Colchicine Poisoning
Vomiting, Diarrhea, Hypomagnesemia, Abnormal blood ion concentration, Leukocytosis, Hypocalcemia,... ORPHA:31824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Dihydropyrimidinase Deficiency
Elevated circulating thymine concentration, Elevated circulating creatine kinase concentration, L... OMIM:222748
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Sepsis In Premature Infants
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... ORPHA:90051
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Acute hepatic failu... OMIM:278000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ... OMIM:301110
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hypergly... ORPHA:470
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Dehydration, Increased cir... OMIM:203400
American Trypanosomiasis
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myo... ORPHA:3386
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory B cells, U... OMIM:614878
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia, Constipation, Feeding difficulties ORPHA:101150
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia ORPHA:48104
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Abdominal... ORPHA:73263
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration OMIM:161900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis OMIM:617900
Cirrhosis, Familial
Ascites, Lethargy, Abdominal distention, Increased level of propylene glycol in blood, Fulminant ... OMIM:215600
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Poor suck OMIM:615026
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenome... OMIM:607594
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Orchitis, Crohn's d... OMIM:249100
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Intestinal inflammation, Chilblain... OMIM:619858
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... ORPHA:42
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Leukocytosis, Pleural effusion, Lethar... OMIM:620233
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Dec... ORPHA:79319
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Neuroleptic Malignant Syndrome
Vomiting, Hyperphosphatemia, Hypernatremia, Aspiration pneumonia, Nasogastric tube feeding, Hypom... ORPHA:94093
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea OMIM:613291
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Splenomegaly, Neonatal death, Hematemesis, Pancreatic cysts, Esopha... OMIM:263200
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Polycystic ovaries, Chronic neutrop... ORPHA:79259
Celiac Disease, Susceptibility To, 1
Depression, Diarrhea, Abdominal distention, Eczematoid dermatitis, Vomiting, Infertility, Recurre... OMIM:212750
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Herpes simplex encephalitis OMIM:613002
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Multiple Endocrine Neoplasia Type 1
Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce... ORPHA:652
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Increased circulating ferritin concentration, Hypert... OMIM:619313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... OMIM:601457
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Feeding difficulties, Hyperammonemia, Hy... ORPHA:79282
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Elevated c... OMIM:603041
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Dysphagia, D... ORPHA:699
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Celiac disease, Gastrointestinal eosino... ORPHA:90363
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Ascites, Ly... ORPHA:93552
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, Feeding difficulties, Thrombocytopenia, Neutropenia, Polyhydramn... OMIM:616271
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... OMIM:615710
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Vomiting, Dehydration OMIM:602722
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Brunner Syndrome
Diarrhea OMIM:300615
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Skin rash, Synovitis, Glomerulonephritis, Arthriti... ORPHA:567544
Hyperprolinemia Type 2
Diarrhea, Depression, Hydroxyprolinuria, Prolinuria, Hyperglycinemia, Hyperprolinemia, Hyperalani... ORPHA:79101
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620126
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Lethargy, Secondary amenorrhea, Primary amenorrhea OMIM:603896
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic diarrhea, Chronic ora... OMIM:616740
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Vomiting, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Vomiting, Elevated circulating L-al... OMIM:248600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Protracted diarrhea, Lymphopenia, Hepatosple... ORPHA:169160
Alg8-Cdg
Diarrhea, Vomiting, Ascites, Feeding difficulties, Oligohydramnios, Hyponatremia, Abnormality of ... ORPHA:79325
N-Acetylglutamate Synthase Deficiency
Vomiting, Hyperammonemia, Hyperglutamatemia, Lethargy, Low plasma citrulline, Hyperglutaminemia, ... OMIM:237310
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Cryptorchidism, Dehydration OMIM:214150
Idiopathic Intracranial Hypertension
Vomiting, Lethargy, Depression, Nausea ORPHA:238624
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Diarrhea, Recurrent pneumoni... OMIM:301000
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption OMIM:277175
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Porphyria, Acute Intermittent
Diarrhea, Depression, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porpho... OMIM:176000
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:620532
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Vom... ORPHA:26793
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Lymphoc... ORPHA:79456
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Feeding ... ORPHA:3260
Early-Onset Familial Hypoaldosteronism
Vomiting, Dehydration, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circulating re... ORPHA:556030
Evans Syndrome
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy... OMIM:602579
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Recurrent otitis media, Lymp... ORPHA:277
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Whipple Disease
Gastrointestinal hemorrhage, Depression, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectio... ORPHA:3452
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, Splenomegaly, Conjugated hy... OMIM:607765
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... OMIM:620449
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Oligohydramnios, Feeding difficulties OMIM:616733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Oli... OMIM:608836
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... ORPHA:276556
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ped... ORPHA:342
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Hypogonadism, Decreased testicular size, Splenomegaly, Lethargy, Decreased serum zinc, ... OMIM:201100
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin concentration, Goiter, Feeding difficulties, Lethargy, Consti... ORPHA:226316
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Hereditary Folate Malabsorption
Gastroesophageal reflux, Diarrhea, Pancytopenia, Nausea and vomiting, Eosinophilia, Megaloblastic... ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Vomiting OMIM:618228
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Pneumonia, Gastrointestinal hemorrhage, Depression, Macular edema, Elevated ci... ORPHA:247691
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Macroglossia, Chronic dia... OMIM:618523
Chylomicron Retention Disease
Diarrhea, Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Steatorrhea, Fat m... ORPHA:71
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea, Dehydration OMIM:560000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... ORPHA:276575
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Pancreati... OMIM:232220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine, Recurrent skin infections, Feedi... OMIM:617744
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Cystinosis
Aminoaciduria, Vomiting, Malabsorption, Hypokalemia, Hypophosphatemia, Dehydration ORPHA:213
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Joint swelling, Chronic diarrhea, Skin rash, Increased proportion of CD4-... OMIM:617099
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Giant cell hepatitis, Oligohydramnios, Thrombocytopenia, Conjugated hyperbilirubin... OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Biotinidase Deficiency
Diarrhea, Vomiting, Splenomegaly, Skin rash, Hyperammonemia, Lethargy, Feeding difficulties in in... OMIM:253260
Snakebite Envenomation
Neuromuscular dysphagia, Diarrhea, Vomiting, Angioedema, Pseudobulbar paralysis, Hypopituitarism,... ORPHA:449285
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno... OMIM:612692
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Feeding difficu... ORPHA:324575
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Conjunctivitis, Fasciitis, Leukocytosis, Splenomegaly, I... ORPHA:32960
Renal Hypoplasia, Bilateral
Feeding difficulties, Oligohydramnios, Cryptorchidism, Hyponatremia, Lethargy, Anemia, Hyperkalem... ORPHA:97362
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Graft Versus Host Disease
Pneumonia, Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Vomiting, Fasciitis,... ORPHA:39812
Congenital Toxoplasmosis
Anemia, Diarrhea, Ascites, Thrombocytopenia ORPHA:858
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Elevated circulating C-reactive protein concentration, Abnormal testis m... ORPHA:54251
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinuria, Alpha-aminoadipic aciduria, Hyperglycinemia, Neonatal death, Lethargy, Elevated ... OMIM:605711
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... ORPHA:97280
Car T Cell Therapy-Associated Cytokine Release Syndrome
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural ef... ORPHA:542323
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasif... ORPHA:49041
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Increased serum pyruvate, Hyperalaninemia OMIM:312170
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Feeding difficulties, Neonatal death OMIM:618232
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia OMIM:616483
Scrub Typhus
Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephalitis, Lethargy, Myocarditis, Abd... ORPHA:83317
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Lethargy, Feeding... ORPHA:90673
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Lethargy, Feeding difficulties OMIM:250620
Congenital Factor Xiii Deficiency
Menorrhagia, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Abnormality of the gastrointestinal tract, Hyperlipidemia ORPHA:2089
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618120
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Cog7-Cdg
Hepatosplenomegaly, Diarrhea, Feeding difficulties, Elevated circulating creatine kinase concentr... ORPHA:79333
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Malabsorption, Chronic diarrhea, S... ORPHA:47
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation ORPHA:231
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Atro... OMIM:619573
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, P... OMIM:619644
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Malabsorption, Skin rash, Erythroderma, Dehydration ORPHA:634
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Hypernatremia, Hyperammonemia, Hyperglutamatemia, Hyperpro... ORPHA:3008
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper... OMIM:235400
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Neonatal hyperbilirubinemia, Depression, Increased circulating prolactin concentrat... ORPHA:90674
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Congenital adrenal hyperplasia, Decreased testicular size, Azoospermia, Cryptorchidism,... ORPHA:90791
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Increased C-peptide level, Feeding difficulties ORPHA:276580
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Hepatosplenomegaly, Le... OMIM:620376
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Leukocytosis, Pancolitis, Eosinophilic infiltration of t... OMIM:618213
Holocarboxylase Synthetase Deficiency
Vomiting, Skin rash, Hyperammonemia, Lethargy, Feeding difficulties in infancy, Thrombocytopenia OMIM:253270
Central Neurocytoma
Lethargy, Depression, Nausea and vomiting ORPHA:73256
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Hyperammonemia, Dehydration OMIM:615453
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Lethargy, Cerebral edema OMIM:201450
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Depression, Diarrhea, Vomiting, Menorrhagia, Abnormal erythrocyte mo... ORPHA:324636
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption OMIM:211600
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:600955
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Vomiting, Hyperammonemia, Lethargy, Abdominal pain, Protein avoidance, Low plasma citrulline, Hyp... OMIM:311250
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Diarrhea, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:235555
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Decreased circulating carnitine ... ORPHA:71212
Hereditary Fructose Intolerance
Hypermagnesemia, Diarrhea, Vomiting, Hyperuricemia, Nausea, Chronic hepatic failure, Lethargy, Co... ORPHA:469
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recur... OMIM:240500
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, N... OMIM:615387
Kaposi Sarcoma
Diarrhea, Lymphedema, Abnormality of the spleen, Skin rash, Abnormality of the gastrointestinal t... ORPHA:33276
Citrullinemia, Classic
Vomiting, Hyperammonemia, Hyperglutaminemia, Lethargy, Protein avoidance, Hypoargininemia, Cerebr... OMIM:215700
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Adrenal Hypoplasia, Congenital
Azoospermia, Cryptorchidism, Hyponatremia, Hypogonadotropic hypogonadism, Oligozoospermia, Dehydr... OMIM:300200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Megaloblastic ane... OMIM:277410
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hypert... ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Neonatal death, Lethargy, Stillbirth, Polyhydramnios, Feeding difficulties OMIM:614922
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Hyperammonemia, Pancreatitis, Abdominal pain OMIM:620137
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Depression, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acantho... ORPHA:96180
Dend Syndrome
Elevated hemoglobin A1c, Vomiting, Dehydration ORPHA:79134
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, T lymphocytopenia, Hypoplasia of the thymus, Impaired ... OMIM:300400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, High palate, Increased serum pyruvate, Feeding difficulties OMIM:604377
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Pancytopenia, Skin rash, Lethargy, Episodic vomiting, Cerebral edema OMIM:618321
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Elevated circulating creatine kinase concentration, Nausea, Dysphagia, Hypergonadotropi... ORPHA:352447
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Impotence, Esophageal spasms, Pancytopenia, Hemolytic a... ORPHA:447
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Neonatal death, Jejunal atresia, Increased circulating very long-... OMIM:609313
Lujo Hemorrhagic Fever
Facial edema, Generalized edema, Abdominal cramps, Diarrhea, Vomiting, Lymphopenia, Leukopenia, L... ORPHA:319213
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Systemic Capillary Leak Syndrome
Diarrhea, Leukocytosis, Pleural effusion, Pulmonary edema, Pancreatitis, Myocarditis, Abdominal p... ORPHA:188
Argininosuccinic Aciduria
Aminoaciduria, Vomiting, Hyperammonemia, Increased circulating argininosuccinic acid, Lethargy, F... OMIM:207900
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Lethargy, Hyperalaninemia OMIM:619064
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Pyruvate Dehydrogenase Deficiency
Lethargy, High palate, Feeding difficulties in infancy ORPHA:765
Immunodeficiency 15B
Reduced natural killer cell count, Chronic diarrhea, Chronic oral candidiasis, Monocytosis OMIM:615592
Osteopetrosis, Autosomal Recessive 9
Anemia, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Alternating Hemiplegia Of Childhood
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Gastrointestinal dysmotility... ORPHA:2131
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Vomiting, Gastroesophageal reflux, Elevated circulating creatinine concentration, Feedi... OMIM:223900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulatin... ORPHA:264580
Isolated Atp Synthase Deficiency
Hypogonadism, Lethargy, Hyperalaninemia, Hyperammonemia ORPHA:254913
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi... ORPHA:79327
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Constipation, Decreased HDL cholesterol... OMIM:618885
Hereditary Angioedema Type 1
Facial edema, Diarrhea, Vomiting, Tongue edema, Laryngeal edema, Intestinal edema, Edema of the d... ORPHA:100050
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Ple... ORPHA:454836
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, High palate, Diarrhea, B lymphocytopenia OMIM:614069
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Hyperleucinemia, Hypera... OMIM:210210
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... OMIM:614162
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyperkalemia, Hyponatremia, Feeding difficulties OMIM:143860
Somatostatinoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97283
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Ulcerative colitis ORPHA:555905
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Glycogen Storage Disease Ic
Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hyperuricemi... OMIM:232240
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Edema, Malnutrition, Esophageal stricture, Pyoderma, Constipation, Gastroint... ORPHA:79404
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu... ORPHA:79126
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... OMIM:609015
Susac Syndrome
Lethargy, Apathy, Nausea and vomiting ORPHA:838
Multifocal Atrial Tachycardia
Lethargy, Feeding difficulties in infancy, Cryptorchidism ORPHA:3282
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Leukopenia, Leukocytosis, Abnormal ma... ORPHA:292
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:610600
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Iron deficiency anemia, High palate OMIM:607906
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Episodic vom... OMIM:612736
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... OMIM:620603
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level OMIM:620125
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Feeding difficulties, Cryptorchidism, Hypocalcemia, Lethargy, Polyhydramnios... OMIM:607143
Cog4-Cdg
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Fatal liver failure in inf... ORPHA:263501
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Angioedema, Laryngeal edema, Intestinal edema, Abdominal pain, Periorbital ed... OMIM:106100
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Vomiting, Hyperglycinemia OMIM:614299
Syndromic Diarrhea
Abnormality of iron homeostasis, Intractable diarrhea, Lymphopenia, Villous atrophy, Splenomegaly... ORPHA:84064
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Hypertonic dehydration, Feeding difficulties in infancy, Constipation, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Hypertonic dehydration, Feeding difficulties in infancy, Constipation, Hypernatremia OMIM:304800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy ORPHA:276608
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Familial Renal Glucosuria
Dehydration ORPHA:69076
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Chronic mucocutaneous candidiasis, Ascites, Hep... ORPHA:79124
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Vomiting, Lethargy, Feeding difficulties in infancy OMIM:210200
Mirage Syndrome
Gastroesophageal reflux, Hyperkalemia, Aspiration pneumonia, Decreased testicular size, Lymphopen... OMIM:617053
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Gastroesophageal reflux, Xerostomia, Nasogastric tube feeding, Hypogonadis... ORPHA:398069
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly, Hyperuricemia OMIM:261750
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific gra... OMIM:617475
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Hypophosphatemic rickets, Lethargy, Abnormal circulating fatty-acid concentra... ORPHA:263455
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Join... ORPHA:29207
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Feeding difficulties in infancy, Hypophosphatemia, Chronic otitis ... ORPHA:534
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Diarrhea, Vomiting, Hyperphosphatemia, Elevated circulating creatinine concentration, ... ORPHA:340
Developmental And Epileptic Encephalopathy 41
Lethargy, Feeding difficulties OMIM:617105
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic ane... OMIM:618495
Meningococcal Meningitis
Skin rash, Infectious encephalitis, Lethargy, Anorexia, Elevated circulating C-reactive protein c... ORPHA:33475
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Increased blood urea nitro... OMIM:154230
Omenn Syndrome
Thyroiditis, Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia,... ORPHA:39041
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Malabsorption, Protruding tongue, Sinusit... OMIM:242860
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... OMIM:619824
Omenn Syndrome
Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... OMIM:606367
Crigler-Najjar Syndrome
Lethargy, Infectious encephalitis ORPHA:205
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulatin... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Nonimmune hydrops feta... OMIM:212065
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Skin rash, Chronic constipatio... OMIM:142680
Insulinoma
Lethargy, Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Primary hyperparathyroidism ORPHA:97279
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Distal Renal Tubular Acidosis
Aminoaciduria, Vomiting, Diarrhea, Hypokalemia, Constipation, Hemolytic anemia, Dehydration, Poor... ORPHA:18
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Lethargy, Low plasma citrul... OMIM:615751
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Anasarca, Hypomagn... OMIM:618183
Pseudo-Torch Syndrome 2
Ascites, Lethargy, Pleural effusion, Thrombocytopenia OMIM:617397
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Homocystinuria, Vomiting, Cystathioninemia, Cystathioninuria, Hypomethioninemia, Lethargy, Feedin... OMIM:277400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate OMIM:601110
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Hepatitis, Hyperbilirubinemia, Splenomegaly, Acholic sto... OMIM:613812
Thymoma