Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Failur... |
OMIM:614372 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recu... |
OMIM:613501 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Diarrhea, Recurrent candida infections, Failure to thrive, Panh... |
OMIM:269840 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bac... |
OMIM:612692 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 15B |
|
Chronic diarrhea, Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level,... |
OMIM:615592 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... |
OMIM:608971 |
Immunodeficiency 19 |
|
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, Recurrent otitis medi... |
OMIM:615617 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Decreased circulating antibody leve... |
OMIM:616740 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Mucoid diarrhea, Increased cir... |
OMIM:615767 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurren... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... |
OMIM:620045 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... |
ORPHA:388 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurren... |
OMIM:300400 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Abnormal immunoglobulin level, Feeding difficulties in infancy, Invasive funga... |
ORPHA:98813 |
Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
Complement Component 4B Deficiency |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Meningitis |
OMIM:614379 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent oppo... |
ORPHA:275 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Recurre... |
OMIM:607594 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, Diarrhea, Panhypogammaglobulinemia, Failure to thrive seconda... |
OMIM:601457 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive |
OMIM:618168 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Chronic ... |
OMIM:615207 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurren... |
ORPHA:169160 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... |
OMIM:601495 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Idiopathic Achalasia |
|
Malnutrition, Gastroesophageal reflux, Dysphagia, Weight loss |
ORPHA:930 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Diarrhea, Sepsis, Weight loss, Decreased circulating antibody l... |
ORPHA:33355 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Dia... |
OMIM:618495 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Failure to thrive, Abnormal immunoglobulin... |
ORPHA:276 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial infections |
OMIM:245480 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss, Recurrent in... |
ORPHA:704 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Weight loss, Gastroesophageal re... |
ORPHA:2198 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:606528 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul... |
OMIM:308230 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Failure to th... |
OMIM:616069 |
Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive, Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... |
ORPHA:83471 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Diarrhea, Decreased circulating antibody level, Infl... |
OMIM:618108 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Isolated Congenital Hypoglossia/Aglossia |
|
Gastrostomy tube feeding in infancy, Nasogastric tube feeding in infancy, Feeding difficulties, W... |
ORPHA:141152 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibo... |
OMIM:617765 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d... |
OMIM:613662 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent viral i... |
OMIM:243700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... |
OMIM:614069 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Severe cytomegalovirus inf... |
OMIM:617638 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... |
OMIM:619281 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Failure to thrive, Small for gestational age |
OMIM:613217 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Failure to thrive |
OMIM:619693 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia... |
ORPHA:209964 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunodeficiency 25 |
|
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... |
OMIM:610163 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive, Recurrent infections |
OMIM:228600 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Recurrent infections |
OMIM:229050 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Recurrent pneumonia, Chronic diarrhea, Recurrent infections, Agammaglobulinemi... |
OMIM:619824 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... |
OMIM:613496 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Severe varicella zoster infection, Diarrhea, Persistent EBV vir... |
OMIM:615387 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Failure to thrive, Vomiting, Diarrhea |
OMIM:615863 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Recurrent viral infections, Decreased circulating antibody level, Protracted d... |
ORPHA:331206 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level |
ORPHA:169079 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic diarrhea, Persisten... |
OMIM:616005 |
Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Weight loss, Infectious encephalitis |
ORPHA:42642 |
Immunodeficiency 69 |
|
BCGosis, Failure to thrive, Diarrhea |
OMIM:618963 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections, Absent isohemagglutinin level, Recurr... |
OMIM:615468 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... |
OMIM:242700 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... |
ORPHA:90045 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... |
OMIM:617475 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Feeding difficulties, Weight loss |
ORPHA:79238 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Cog7-Cdg |
|
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent infections, Failure to thrive |
ORPHA:79333 |
Immunodeficiency 22 |
|
Failure to thrive, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, D... |
OMIM:615758 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Failure to thrive, Steatorrhea |
OMIM:613291 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Chronic diarrhea, Persistent EBV ... |
OMIM:619510 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to... |
OMIM:264350 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Meningitis, Recurrent upper respiratory tract infections, Chronic diarrhe... |
OMIM:600802 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Weight loss |
ORPHA:103910 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain |
OMIM:620137 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... |
OMIM:116920 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Decreased cir... |
OMIM:616100 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Anorexia, Weight loss |
ORPHA:100083 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Sever... |
OMIM:606367 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati... |
ORPHA:169154 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Diarrhea, Sepsis, Failur... |
ORPHA:229717 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Vomiting, Steatorrhea, Failure to thrive |
OMIM:246700 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Decreased circulating t... |
OMIM:618394 |
Coproporphyria, Hereditary |
|
Constipation, Vomiting, Diarrhea, Abdominal pain |
OMIM:121300 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... |
OMIM:618048 |
Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Hema... |
ORPHA:100082 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Recurrent infections, Recurrent aphthous stomatitis, Chronic oral ... |
OMIM:150550 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Sepsis, Enterocolitis... |
ORPHA:95427 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections, Agammaglobulinemia, Fai... |
ORPHA:33110 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... |
ORPHA:486 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea |
OMIM:606824 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Chronic g... |
ORPHA:183675 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... |
OMIM:147060 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Failure to thrive, Recurrent viral infections, Diarrhea, Incre... |
OMIM:102700 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Chroni... |
OMIM:618523 |
Omenn Syndrome |
|
Recurrent viral infections, Diarrhea, Recurrent bacterial infections, Recurrent fungal infections... |
OMIM:603554 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... |
OMIM:613179 |
Bullous Pemphigoid |
|
Weight loss, Recurrent infections |
ORPHA:703 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Failur... |
OMIM:613489 |
Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis, Failu... |
OMIM:612782 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Feeding difficulties in infancy, Secretory diarrhea, Entero... |
OMIM:616050 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Chronic diarrhea, Sepsis, Weight loss... |
ORPHA:47 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... |
ORPHA:436159 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Cachexia, Abdominal pain, Abdominal distention, Gast... |
ORPHA:298 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Weight loss, Prot... |
ORPHA:100080 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Reduced antigen-specifi... |
OMIM:616433 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss |
ORPHA:65682 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... |
OMIM:618131 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic diarrhea, Chronic decreased cirulating IgG2, Recurrent ... |
OMIM:615607 |
Immunodeficiency 27A |
|
Anorexia, Diarrhea, Weight loss, Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
Idiopathic Bronchiectasis |
|
Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Increased c... |
ORPHA:319218 |
Trichohepatoenteric Syndrome 2 |
|
Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis, Failure to thrive |
OMIM:614602 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Parti... |
ORPHA:35078 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... |
OMIM:617788 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... |
OMIM:603041 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea |
OMIM:251850 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Diarrhea, Dysphagia, Weight loss, Hematochezia, Vomiting, Steatorrhea |
ORPHA:2070 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Weight loss, Vo... |
ORPHA:90003 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Ch... |
OMIM:300755 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abdominal pain, Diarrhea, Weight loss |
ORPHA:54251 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea, Weight loss, Failure to thrive |
ORPHA:1842 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive in infancy, Recurrent upper re... |
ORPHA:263501 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Cachexia |
ORPHA:1389 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Autoinflammatory-Pancytopenia Syndrome |
|
Chronic diarrhea, Failure to thrive, Intestinal inflammation, Severe Epstein Barr virus infection |
OMIM:619858 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Follicular Lymphoma |
|
Meningitis, Weight loss |
ORPHA:545 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:90035 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin... |
ORPHA:90362 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea |
ORPHA:352447 |
Kaposi Sarcoma |
|
Recurrent herpes, Diarrhea, Weight loss |
ORPHA:33276 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Mast Cell Sarcoma |
|
Mastocytosis, Weight loss |
ORPHA:66661 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Failure to thrive in infancy,... |
ORPHA:79124 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Recurrent tonsillitis, Weight loss... |
ORPHA:171876 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Decreased circulating ant... |
OMIM:226300 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Poor appetite, Anorexia, Bowel urgency, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... |
ORPHA:927 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... |
OMIM:619802 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Diarrhea, Weight loss, Recurrent infections, Episod... |
ORPHA:361 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite, Weight loss |
ORPHA:2221 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Poor appetite, Diarrhea, Recurrent candida infections, Failure to thrive |
OMIM:201100 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis, Partial ab... |
OMIM:619652 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent... |
ORPHA:221139 |
Typhoid |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Infectious encephalitis |
ORPHA:99745 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:177735 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody d... |
ORPHA:391673 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Obesity, Dysphagia, Gastroesophageal reflux, Constipation, ... |
ORPHA:589821 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... |
ORPHA:443811 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Increased circulating IgM level, Dysphagia |
ORPHA:99824 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function, Failure to thrive |
ORPHA:79319 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss |
ORPHA:83469 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Weight loss, Sepsis, Recurrent infections |
ORPHA:764 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Abdominal pain, Increased circulating IgA level, Diarrhea, Chronic ... |
OMIM:617099 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive, Atrophic gastritis, Recurrent pneumonia, Chr... |
OMIM:614700 |
Alg1-Cdg |
|
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Recu... |
ORPHA:47612 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea |
OMIM:235555 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Weight loss, Increased proportio... |
ORPHA:98850 |
Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Weight loss |
OMIM:617321 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Chronic diarrhea, Decreased circulating antibody level, Recurren... |
OMIM:300972 |
Classic Hodgkin Lymphoma |
|
Poor appetite, Bone marrow hypocellularity, Anorexia, Weight loss |
ORPHA:391 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure |
ORPHA:75234 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Hemateme... |
OMIM:301000 |
Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, BCGosis, Recurrent pneumonia, Severe viral infection, Extrapulmonary tuber... |
OMIM:619644 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis, BCGitis, C... |
OMIM:602450 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Abdominal pain, Anorexia, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Vomiting, Steatorrhea, F... |
ORPHA:92050 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Recurrent respiratory infections, Bone marrow hypocellularity, Weight loss |
ORPHA:3226 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... |
OMIM:617053 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level, Bloody diarrhea |
OMIM:614328 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Increased circulating IgA level, Anorexia, Severe vari... |
ORPHA:48435 |
Malt Lymphoma |
|
Nausea and vomiting, Recurrent respiratory infections, Abdominal pain, Weight loss, Constipation |
ORPHA:52417 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Weight loss |
ORPHA:1332 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Rhabdoid Tumor |
|
Nausea and vomiting, Abdominal pain, Poor appetite, Weight loss |
ORPHA:69077 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Recurrent infections |
OMIM:615084 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections... |
OMIM:260920 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Increased circulating IgG4 level, Abdominal pain, Increased circulating I... |
ORPHA:449400 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Weight loss, Dysphagia |
ORPHA:97286 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Diarrhea, Coccidioidomycosis, Chronic mucocutaneous candidiasis... |
OMIM:614162 |
Infantile Systemic Hyalinosis |
|
Chronic diarrhea, Feeding difficulties, Recurrent bacterial infections, Steatorrhea, Failure to t... |
ORPHA:2176 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Weight loss, Chron... |
OMIM:301074 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Pleural Mesothelioma |
|
Dysphagia, Weight loss |
ORPHA:50251 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Diarrhea, Decreased circulating total IgM, Vomiting, Failure to ... |
OMIM:275350 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Diarrhea, Gastritis |
ORPHA:2575 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Small for gestational age, Abdominal distention, S... |
ORPHA:90051 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia, Weight loss |
ORPHA:98897 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Decreased circula... |
ORPHA:169105 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
Radiation Proctitis |
|
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia |
ORPHA:70475 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... |
OMIM:615895 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Cronkhite-Canada Syndrome |
|
Abdominal pain, Diarrhea, Cachexia, Anorexia |
ORPHA:2930 |
Pneumocystosis |
|
Weight loss, Pneumocystis jirovecii pneumonia, Increased circulating antibody level, Chronic oral... |
ORPHA:723 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function, Cachexia |
ORPHA:42 |
Classic Galactosemia |
|
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea |
OMIM:277175 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... |
ORPHA:343 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... |
ORPHA:39812 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Nasogastric tube feeding, Diarrhea, Gastroesophageal reflux, Decreased body weight |
OMIM:607906 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Diarrhea, Failure to thrive, Decreased circulating IgA level |
OMIM:242860 |
Boutonneuse Fever |
|
Abdominal pain, Diarrhea, Increased circulating IgG level, Increased circulating IgM level, Nausea |
ORPHA:83313 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... |
ORPHA:1333 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent aphthous stomati... |
OMIM:212750 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... |
OMIM:608233 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea |
ORPHA:100924 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Rapadilino Syndrome |
|
Diarrhea, Feeding difficulties |
OMIM:266280 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Increased circulating IgE level, Chronic diarrhea, Ileus, Failure to thrive |
OMIM:304790 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:602473 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Obesity |
OMIM:600955 |
Legionnaires Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis, Bone marr... |
ORPHA:549 |
Riddle Syndrome |
|
Recurrent viral infections, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Decreased... |
ORPHA:420741 |
Fatal Familial Insomnia |
|
Constipation, Dysphagia, Weight loss |
OMIM:600072 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Diarrhea, Steatorrhea, Vomiting, Hepatic failure, Failure to thrive |
OMIM:602579 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Failure to thrive |
ORPHA:71 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Failure to thrive |
OMIM:608104 |
American Trypanosomiasis |
|
Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia, Infectious encephalitis |
ORPHA:3386 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Bloody diarrhea, Recurrent infections, Hematochezia, Inflammation of the lar... |
OMIM:617718 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Failure to thrive |
OMIM:619484 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Abdominal pain, Perit... |
ORPHA:131 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea |
OMIM:176000 |
Mevalonic Aciduria |
|
Failure to thrive in infancy, Increased circulating IgD level, Diarrhea, Recurrent infections, Vo... |
OMIM:610377 |
Leishmaniasis |
|
Increased circulating antibody level, Anorexia, Weight loss |
ORPHA:507 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:601110 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Failure to thrive, Weight loss |
OMIM:256700 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level... |
OMIM:614576 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Obesity, Diarrhea |
ORPHA:36397 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Failure to thrive |
OMIM:601847 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Weight loss, Constipation, Failu... |
ORPHA:199299 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Recurrent respiratory infections, Hypoperistalsis, Weight loss, Gastroesophageal reflu... |
ORPHA:1018 |
Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, ... |
ORPHA:810 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy |
OMIM:618805 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea |
OMIM:607765 |
Nephroblastoma |
|
Abdominal pain, Weight loss |
ORPHA:654 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Recurrent v... |
OMIM:242840 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia |
ORPHA:1876 |
Hyperprolinemia Type 2 |
|
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain |
ORPHA:79101 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Weight ... |
ORPHA:85450 |
Alg8-Cdg |
|
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Failure to thrive |
ORPHA:79325 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections |
OMIM:300953 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Recurrent infections, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252920 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... |
ORPHA:36426 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Failure to thrive |
OMIM:211600 |
Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:94080 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... |
OMIM:223900 |
Systemic Capillary Leak Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:188 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252900 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster infection, Meningitis... |
ORPHA:36234 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Recurrent viral infecti... |
OMIM:619573 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Anorexia, Weight loss |
ORPHA:79242 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Failure to thrive in infancy, Gastritis, Cachexia, Increased ci... |
ORPHA:37042 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea |
OMIM:300215 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hematochezia, Steatorrhea, Failure to thrive |
OMIM:613812 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Anorexia, Diarrhea, Infectious encephalitis |
ORPHA:3452 |
B4Galt1-Cdg |
|
Diarrhea, Small for gestational age |
ORPHA:79332 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Recurrent pneumonia, Failure to thrive in infancy |
OMIM:301220 |
Polymyositis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea... |
ORPHA:732 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure |
ORPHA:97287 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
Nk-Cell Enteropathy |
|
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux |
ORPHA:263665 |
Cystic Echinococcosis |
|
Abdominal symptom, Invasive parasitic infection, Unusual infection, Weight loss, Increased circul... |
ORPHA:400 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss |
ORPHA:399 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
Avian Influenza |
|
Abdominal pain, Diarrhea, Sepsis, Vomiting, Meningitis, Infectious encephalitis |
ORPHA:454836 |
Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive |
OMIM:620310 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la... |
ORPHA:29207 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Abdominal pain, Secretory diarrhea, Weight loss, Failure to th... |
OMIM:619377 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ... |
ORPHA:51636 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Failure to thrive in infancy, Gastrostomy tube feeding in infan... |
OMIM:613385 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Cachexia, Steatorrhea |
ORPHA:3217 |
Tropical Pancreatitis |
|
Malnutrition, Vomiting, Nausea, Weight loss |
ORPHA:103918 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:33577 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia |
OMIM:252930 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Increased body weight, Recurrent infections, Vomiting, Failure to thrive, Nausea |
ORPHA:264580 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
Polyarteritis Nodosa |
|
Abdominal pain, Weight loss |
ORPHA:767 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
Refractory Celiac Disease |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss |
ORPHA:398063 |
Aa Amyloidosis |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Imerslund-Gräsbeck Syndrome |
|
Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive |
ORPHA:35858 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Hepatic failure, Vomiting, Protuberant abdomen, Steatorrhea, Fai... |
OMIM:278000 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Recurrent acu... |
ORPHA:95409 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Agammag... |
OMIM:243150 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
Omenn Syndrome |
|
Chronic diarrhea, Failure to thrive, Sepsis |
ORPHA:39041 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Increased body weight, Recurrent infections, Vomiting, Nausea |
ORPHA:79240 |
Microsporidiosis |
|
Brain abscess, Cachexia, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Weight ... |
ORPHA:2552 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... |
ORPHA:275761 |
Acute Promyelocytic Leukemia |
|
Anorexia, Abdominal pain, Chronic infection, Weight loss, Stomatitis |
ORPHA:520 |
Dengue Fever |
|
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:99828 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Increased body weight, Large for gestational age |
ORPHA:263455 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Recurrent infections, Feeding difficulties, Vomiti... |
ORPHA:206436 |
Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Feeding difficulties, Weight loss, Gastroesophageal reflux, Dys... |
ORPHA:354 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Failure to thrive, Abdominal pain |
OMIM:174900 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Feeding difficulties |
ORPHA:427 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss |
ORPHA:221098 |
Ileal Neuroendocrine Tumor |
|
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Weight ... |
ORPHA:100078 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cachexia, Feeding difficulties |
ORPHA:217346 |
Rat-Bite Fever |
|
Diarrhea, Sepsis, Weight loss, Vomiting, Meningitis, Parotitis |
ORPHA:31205 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... |
OMIM:612541 |
Klatskin Tumor |
|
Abdominal pain, Weight loss |
ORPHA:99978 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... |
OMIM:620233 |
Familial Mediterranean Fever |
|
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... |
OMIM:249100 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100085 |
Dpm1-Cdg |
|
Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Severe cytomegalovirus infection, Diarrhea |
OMIM:619313 |
Acrodermatitis Enteropathica |
|
Poor appetite, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive |
ORPHA:37 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Constipation, Cachexia |
ORPHA:52503 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100086 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Weight loss |
ORPHA:216866 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Malnutrition, Sepsis, Steatorrhea, Recurrent bacterial infections, Bo... |
ORPHA:811 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:142 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Small for gestational age, Re... |
ORPHA:99843 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Wilson Disease |
|
Acute hepatic failure, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Recurrent infections, Monoclonal immunoglobulin ... |
ORPHA:33226 |
Leukocyte Adhesion Deficiency |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent staphylococcal infections... |
ORPHA:2968 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:248500 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Abdominal pain, Severe infection, Diarrhea, Secretory diarrhea, Severe viral infec... |
ORPHA:544482 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Chronic diarrhea, Recurrent infections, Decrea... |
OMIM:601675 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Recurrent respiratory infections, Diarrhea, Recurrent infections... |
OMIM:618278 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Weight loss, Hematochezia, Feeding di... |
OMIM:615846 |
Giant Cell Arteritis |
|
Anorexia, Abdominal pain, Recurrent pharyngitis, Weight loss, Gastrointestinal infarctions, Hepat... |
ORPHA:397 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
Oromandibular Dystonia |
|
Dysphagia, Weight loss |
ORPHA:93958 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... |
OMIM:219700 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG... |
ORPHA:91139 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia, Weight loss |
ORPHA:134 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent infections |
OMIM:617827 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... |
ORPHA:100079 |
Sickle Cell Disease |
|
Recurrent bacterial infections, Abdominal pain |
OMIM:603903 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Weight loss |
ORPHA:2902 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... |
ORPHA:537 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive |
ORPHA:71212 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recu... |
ORPHA:90363 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
Satoyoshi Syndrome |
|
Diarrhea |
OMIM:600705 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Recurrent bronchitis, Chronic diarrhea, Recur... |
OMIM:208900 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Peritonitis, Weight loss, Gastr... |
ORPHA:679 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea... |
OMIM:212065 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abdominal pain, Diarrhea, Weight loss, Abnormal mast cell morphology, Nausea |
ORPHA:98849 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Recurren... |
OMIM:251260 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis |
OMIM:240300 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Failure to thrive, Recurrent infection of the gastrointestinal ... |
OMIM:612132 |
Lysinuric Protein Intolerance |
|
Diarrhea, Hepatic failure, Decreased circulating antibody level, Feeding difficulties, Recurrent ... |
ORPHA:470 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction |
OMIM:309900 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Diarrhea, Failure to thrive |
ORPHA:525731 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C... |
ORPHA:813 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss |
ORPHA:370348 |
Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Abdominal pain, He... |
ORPHA:73263 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Failure to thrive, Feeding difficulties, Weight loss |
OMIM:619487 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Increa... |
ORPHA:85443 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain |
ORPHA:100093 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... |
ORPHA:342 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesopha... |
ORPHA:500055 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Infectious encephalitis, Weight loss |
ORPHA:139402 |
Japanese Encephalitis |
|
Anorexia, Abdominal pain, Meningitis, Diarrhea, Increased circulating IgM level, Increased circul... |
ORPHA:79139 |
Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Severe viral infection, Diarrhea, Vomiting, Abdominal cramps, D... |
ORPHA:319213 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Hepatic failure, Chronic diarrhea, Recurrent infections, Vom... |
OMIM:557000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... |
ORPHA:79259 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia |
OMIM:618186 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Solitary Fibrous Tumor |
|
Constipation, Weight loss |
ORPHA:2126 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Inflammation of the large intestine, Protuberant abdomen |
OMIM:232220 |
Dominant Beta-Thalassemia |
|
Chronic infection, Diarrhea, Failure to thrive in infancy, Feeding difficulties |
ORPHA:231226 |
Lynch Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation |
ORPHA:144 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Impaired platelet adhesion, Nausea |
ORPHA:324636 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal... |
ORPHA:79076 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Gastroesophageal reflux... |
ORPHA:183 |
Q Fever |
|
Unusual infection, Anorexia, Weight loss, Increased circulating antibody level, Meningitis, Infec... |
ORPHA:781 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... |
ORPHA:32960 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... |
ORPHA:913 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting |
ORPHA:20 |
Hereditary Angioedema Type 1 |
|
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea |
ORPHA:100050 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Severe viral infection, Weight loss |
ORPHA:79128 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties, Hematoche... |
OMIM:618183 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation |
ORPHA:440437 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Syndromic Diarrhea |
|
Small for gestational age, Gastritis, Bloody diarrhea, Recurrent infections, Colitis, Intractable... |
ORPHA:84064 |
Thymoma |
|
Weight loss, Ulcerative colitis, Decreased circulating antibody level |
ORPHA:99867 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:93552 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Abdominal pain, Meningitis, Diarrhea, Peritonitis, Unusual... |
ORPHA:533 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... |
OMIM:252940 |
Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Decreased body mass index |
ORPHA:247585 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea |
OMIM:214700 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
Multiple Myeloma |
|
Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Weight los... |
ORPHA:29073 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to thrive, Nausea |
OMIM:222700 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:276621 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Diarrhea, Recurrent upper respiratory tract i... |
ORPHA:391487 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
Nocardiosis |
|
Brain abscess, Anorexia, Meningitis, Severe infection, Peritonitis, Unusual CNS infection, Sepsis... |
ORPHA:31204 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Recurrent systemic pyogenic infections, Abnormal large intestine physiolog... |
ORPHA:171 |
Caroli Disease |
|
Anorexia, Abdominal pain, Weight loss, Abdominal rigidity, Vomiting, Nausea |
ORPHA:53035 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition, Decreased body weight |
ORPHA:96180 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Beta-Thalassemia Major |
|
Chronic infection, Diarrhea, Failure to thrive in infancy, Feeding difficulties |
ORPHA:231214 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea |
OMIM:602347 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Weight loss |
ORPHA:160 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Steatorrhea, Recurrent infections, Feeding difficulties, Gastroesophageal reflu... |
OMIM:618268 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Weight loss, Hematochezia, Epis... |
ORPHA:97282 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
Hereditary Late-Onset Parkinson Disease |
|
Chronic constipation, Dysphagia, Weight loss |
ORPHA:411602 |
Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abdominal pain, Chronic hepatic failure, Weight loss |
ORPHA:465508 |
Farber Disease |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Feeding difficulties, Hepatic fai... |
ORPHA:333 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea, Failure to thrive, Bone marrow hypocellularity |
OMIM:613989 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea |
ORPHA:139411 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Poor appetite, Nasogastric tube feeding in infancy, Weight loss... |
ORPHA:2020 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia |
ORPHA:93672 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea |
OMIM:616355 |
Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:253260 |
Melas |
|
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation, Fa... |
ORPHA:550 |
Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Severe infection, Diarrhea, Melena, Vomiting, Decreased body weight,... |
ORPHA:340 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties, Dysphagia |
OMIM:620358 |
Brucellosis |
|
Small for gestational age, Anorexia, Abdominal pain, Weight loss, Increased circulating IgG level... |
ORPHA:1304 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:608836 |
Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... |
ORPHA:85138 |
Alveolar Echinococcosis |
|
Abdominal pain, Weight loss, Increased circulating antibody level, Vomiting, Decreased liver func... |
ORPHA:284 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Vomiting, Hep... |
OMIM:256810 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
Renal Nutcracker Syndrome |
|
Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Multiple Endocrine Neoplasia, Type Iib |
|
Constipation, Failure to thrive in infancy, Diarrhea |
OMIM:162300 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Weight loss, Constipation |
ORPHA:49041 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis |
ORPHA:90038 |
Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Dubowitz Syndrome |
|
Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... |
OMIM:223370 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Weight loss, Recurrent infections, Gastroesophage... |
ORPHA:99921 |
Cockayne Syndrome Type 1 |
|
Diarrhea, Failure to thrive |
ORPHA:90321 |
Turcot Syndrome With Polyposis |
|
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea |
ORPHA:99818 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:29072 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon... |
ORPHA:647 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Chronic diarrhea, Vomiting |
OMIM:614921 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased circulating IgA level, Increased body weight, Weight loss, ... |
ORPHA:2298 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Recurrent respiratory infections, Gastrointestinal hemorrhage, Intestinal ob... |
ORPHA:900 |
Poems Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:2905 |
Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... |
ORPHA:707 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea, Decreased cir... |
ORPHA:247598 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea |
OMIM:270420 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Gastrostomy tube feeding in infancy, Protuberant abdomen, Weigh... |
ORPHA:576 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti... |
ORPHA:221008 |
Marburg Hemorrhagic Fever |
|
Anorexia, Abdominal pain, Severe infection, Odynophagia, Diarrhea, Bloody diarrhea, Increased cir... |
ORPHA:99826 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting |
ORPHA:230 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chronic diarrhea, Failure to thrive, Recurrent pneumonia, Sepsis |
ORPHA:158668 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss |
OMIM:607459 |
Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Small for gestational age, Vomiting |
ORPHA:2909 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Episodic abdominal pain, Weight loss, Constipation, Dysphagia |
ORPHA:143 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Meningitis |
ORPHA:2331 |
Yellow Fever |
|
Abdominal pain, Hematemesis, Diarrhea, Increased circulating IgM level, Vomiting, Opportunistic i... |
ORPHA:99829 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Obesity, ... |
OMIM:615873 |
Behçet Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Recurren... |
ORPHA:117 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea |
OMIM:226730 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti... |
ORPHA:221016 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abdominal pain, Anorexia, Weight loss |
ORPHA:79430 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melena, Gastroesophageal reflux, Vo... |
ORPHA:652 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... |
ORPHA:906 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive, Impaired platelet... |
OMIM:241200 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Small for gestational age, Decreased circulating antibody level, Intractable d... |
OMIM:222470 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Feeding difficulties, Recurrent infections, Recurrent bacterial... |
ORPHA:2273 |
Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive |
OMIM:601678 |
Hurler Syndrome |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Abdominal distention, Diarrhea, Malnutriti... |
OMIM:619991 |
Thyrotoxic Periodic Paralysis |
|
Constipation, Obesity, Weight loss |
ORPHA:79102 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic constipation, Chronic diarrhea, Decreased body weight |
OMIM:619005 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:35687 |
Pearson Syndrome |
|
Small for gestational age, Severe infection, Chronic diarrhea, Steatorrhea, Bone marrow hypocellu... |
ORPHA:699 |
Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Sandhoff Disease |
|
Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
Ogden Syndrome |
|
Diarrhea, Dysphagia, Feeding difficulties, Recurrent infections, Vomiting, Tube feeding, Recurren... |
OMIM:300855 |
Mitchell-Riley Syndrome |
|
Diarrhea |
OMIM:615710 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Abdominal pain, Increased circulating IgE level, Weight loss, I... |
ORPHA:449395 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Recurrent abscess formation, Bloody diarrhea |
ORPHA:436252 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Recurrent tonsillitis, Constipation, Protuberant abdomen, Dys... |
ORPHA:581 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Chronic diarrhea |
ORPHA:457279 |
Alg9-Cdg |
|
Gastroesophageal reflux, Diarrhea, Vomiting |
ORPHA:79328 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena |
ORPHA:464321 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Weight loss, Incre... |
ORPHA:79078 |
Dermatomyositis |
|
Feeding difficulties in infancy, Recurrent respiratory infections, Weight loss |
ORPHA:221 |
Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Increased circulati... |
ORPHA:99827 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Deeah Syndrome |
|
Chronic diarrhea, Chronic constipation, Dysphagia, Decreased body weight, Exocrine pancreatic ins... |
OMIM:619004 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Anorexia, Weight loss, Inflammation of the large intestine, Inc... |
OMIM:181000 |
Gitelman Syndrome |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Failure to thrive |
ORPHA:358 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Idiopathic Hypereosinophilic Syndrome |
|
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... |
ORPHA:3260 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Esophagitis |
OMIM:131100 |
Malakoplakia |
|
Diarrhea, Abdominal pain |
ORPHA:556 |
Dubowitz Syndrome |
|
Chronic diarrhea, Recurrent infections |
ORPHA:235 |
Mednik Syndrome |
|
Diarrhea |
OMIM:609313 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure to thrive |
OMIM:606721 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Chikungunya |
|
Diarrhea, Infectious encephalitis, Vomiting |
ORPHA:324625 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Abetalipoproteinemia |
|
Chronic diarrhea, Failure to thrive, Vomiting, Steatorrhea |
ORPHA:14 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Failure to thrive, Vomiting |
ORPHA:47159 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Oculopharyngodistal Myopathy 1 |
|
Dysphagia, Weight loss |
OMIM:164310 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dy... |
ORPHA:500150 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Intestinal bleeding, Bloody diarrhea |
OMIM:175200 |
Cocaine Intoxication |
|
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea |
ORPHA:90068 |
Leptospirosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Meningitis |
ORPHA:509 |
Multiple Endocrine Neoplasia Type 2 |
|
Abdominal distention, Diarrhea, Constipation |
ORPHA:653 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Weight loss |
ORPHA:91347 |
Schwartz-Jampel Syndrome |
|
Feeding difficulties in infancy, Cachexia, Decreased body weight |
ORPHA:800 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... |
OMIM:219800 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Brain abscess, Abdominal pain, Diarrhea, Hematochezia, Failure to th... |
ORPHA:2929 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Weight loss |
ORPHA:84 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Nasoga... |
ORPHA:273 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Gastroin... |
ORPHA:95455 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Diarrhea, Increased body weight, Recurrent cutaneous fungal infections, Weight loss, Tr... |
ORPHA:99889 |
Sapho Syndrome |
|
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain |
ORPHA:793 |
Kikuchi-Fujimoto Disease |
|
Meningitis, Anorexia, Weight loss |
ORPHA:50918 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Esophagitis, Episodic abdominal pain |
ORPHA:276152 |
Scorpion Envenomation |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:466677 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Feeding difficulties in infancy, Gastroesophageal ref... |
ORPHA:828 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Abdominal pain, Weight loss, Increased circulating IgG level, Increased circulating ant... |
ORPHA:91500 |
Zttk Syndrome |
|
Feeding difficulties in infancy, Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:617140 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:90062 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:580 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Feeding difficulties, Failure to thrive, Vomiting, Weight loss |
ORPHA:90794 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217093 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Feeding difficulties, Intermittent diarrhea, Failure to thrive, Exocri... |
ORPHA:2255 |
Camurati-Engelmann Disease |
|
Feeding difficulties in infancy, Slender build, Cachexia, Anorexia |
ORPHA:1328 |
African Trypanosomiasis |
|
Diarrhea, Vomiting, Nausea, Weight loss |
ORPHA:3385 |
Cockayne Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Gastrostomy tube feeding in i... |
ORPHA:191 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Diarrhea |
OMIM:208400 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
Viss Syndrome |
|
Chronic gastritis, Abdominal distention, Increased circulating IgE level, Chronic diarrhea, Feedi... |
OMIM:619472 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Feeding difficulties |
ORPHA:2072 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Feeding difficulties, Dysphagia |
ORPHA:642 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Occipital Horn Syndrome |
|
Chronic diarrhea |
OMIM:304150 |
Sarcoidosis |
|
Hepatic failure, Decreased liver function, Parotitis, Weight loss |
ORPHA:797 |
Choreoacanthocytosis |
|
Dysphagia, Weight loss |
ORPHA:2388 |
Proteus Syndrome |
|
Cachexia, Recurrent infections |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Malnutrition, Cachexia |
ORPHA:75565 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |