Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peptidoglycan recognition protein 2
Synonyms:
tagl-beta,  tagL-alpha,  tagL,  PGRP-L,  C730002N09Rik,  Pglyrpl

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pglyrp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Pglyrp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis... OMIM:266600
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Failure to... OMIM:615767
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Failure to thrive, Malabsorption, Gastrointestinal hemorrhage ORPHA:79301
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ménétrier Disease
Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ... ORPHA:2494
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Slender build, Malnutrition, Abdominal pain, Constipation, Weight l... OMIM:613662
Ganglioneuroma
Functional intestinal obstruction, Gastrointestinal hemorrhage, Abnormal rectum morphology, Hyper... ORPHA:251992
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Glycoprotein Storage Disease
Gout OMIM:232900
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Idiopathic Achalasia
Malnutrition, Dysphagia, Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia ORPHA:930
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Nausea and vomiti... ORPHA:26790
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Lujo Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac arrest, Nausea a... ORPHA:319213
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Dysphagia, Intestinal pseudo-obstruction, ... ORPHA:85446
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia ORPHA:52416
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Bruising susceptibility, Gastrointestinal hemorrhage OMIM:137560
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Weight loss, Failure to thrive in infancy, F... ORPHA:388
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Weight los... ORPHA:97286
Desmoid Tumor
Gastrointestinal hemorrhage, Abdominal pain, Desmoid tumors, Intestinal polyposis, Malabsorption,... ORPHA:873
Budd-Chiari Syndrome
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Acute hep... ORPHA:131
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Failure to thrive, Gastrointestinal hemorrhage ORPHA:79302
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Immunodeficiency 70
Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Decreased circulating antibody level, Co... OMIM:300635
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglionic megacolon,... ORPHA:95427
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Inflammation of the large intes... OMIM:618108
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Abdominal pain, Nausea and vomiting, Intes... ORPHA:543
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Ovarian cyst, Joint hemorrhage, Gastrointestinal hemorrhage, In... ORPHA:327
Hemophilia B
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhag... OMIM:306900
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Reticular Dysgenesis
Skin rash, Decreased circulating antibody level, Chronic otitis media, Weight loss, Diarrhea, Fai... ORPHA:33355
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci... OMIM:619281
Marburg Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Subconjunctival hemorr... ORPHA:99826
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Diffuse Cutaneous Mastocytosis
Hypotension, Erythroderma, Malabsorption, Gastrointestinal hemorrhage ORPHA:79456
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:2869
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted diarrhea, Cholang... OMIM:209920
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Prolonged bleeding time, Join... OMIM:193400
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ... OMIM:608809
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Diarrhea, Abdominal distention ORPHA:103910
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Prolonged prothrombin time, Gastrointestinal hemorrhag... OMIM:613679
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Hepatitis, Diarrhea, Small for gestational age, Failure to thrive OMIM:614602
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Failure to thrive, Eczema, Abnormal intestine ... OMIM:615607
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Ebola Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure,... ORPHA:319218
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Portal hypertension, Retinal telangiectasia, Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Ecchymosis, Prolonged bleeding after surgery, Persistent ble... ORPHA:331
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Purpura, Diarrhea, Increased circulatin... ORPHA:343
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the... ORPHA:2070
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Diarrhea, Malabsorption OMIM:277175
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Pfapa Syndrome
Abdominal pain, Weight loss, Encephalitis, Nausea and vomiting, Malabsorption, Arthritis ORPHA:42642
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Gastroesophageal reflux, N... ORPHA:411696
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Intussusception, Gastrointestinal infarctions, Abdominal c... ORPHA:544482
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Immunodeficiency 76
Recurrent pneumonia, Chronic diarrhea, Colitis OMIM:619164
Malignant Atrophic Papulosis
Peritonitis, Intestinal perforation, Arteritis, Ischemic stroke, Gastrointestinal hemorrhage, Abd... ORPHA:679
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Diffuse alveolar hemorrhage, Episodic vomiting, Failure to thrive, Fe... OMIM:616050
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Abnormal serum interleukin level, Synovitis, Reduced bone mineral density, Rheuma... ORPHA:85435
Rift Valley Fever
Gastrointestinal hemorrhage, Purpura, Weight loss, Anorexia, Diarrhea, Encephalitis, Hepatic fail... ORPHA:319251
Blue Rubber Bleb Nevus
Skin rash, Intestinal bleeding, Prolonged bleeding time, Gastrointestinal infarctions, Volvulus ORPHA:1059
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Spider hemangioma, Gastrointestinal hemorrh... ORPHA:2137
Dengue Fever
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Epistaxis, Petechiae, Cerebr... ORPHA:99828
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424019
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation... OMIM:615237
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Anorexia, Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Intestinal perforation, Malnutrition, Abdominal pain, Constipation, Weight loss, C... OMIM:603041
Crimean-Congo Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Uveitis, Epistaxis, Pe... ORPHA:99827
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Elevated circulating C-reactive protein concent... ORPHA:79099
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Diarrhea, Abn... ORPHA:263665
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Recurrent sinusitis, Colitis OMIM:613101
Typhoid
Skin rash, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Epistaxis, Diar... ORPHA:99745
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Arthritis, Acne, Sterile arthritis OMIM:604416
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Abdominal cramps, Abdominal pain, Hypotension, Maculopapular exanthe... ORPHA:98850
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Esophageal stenosis, Colitis OMIM:615190
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Gastroesopha... ORPHA:732
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Neoplasm of the rectum, Abdominal pain, Hepatoc... ORPHA:440437
Lynch Syndrome
Ovarian neoplasm, Colon cancer, Gastrointestinal hemorrhage, Neoplasm of the rectum, Abdominal pa... ORPHA:144
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Nausea, Neoplasm of the liver, Weight loss, Vomiting, Increased hepatitis B virus... ORPHA:90003
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Aortic regurgita... ORPHA:99147
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Juvenile Polyposis Of Infancy
Abnormal bleeding, Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hem... ORPHA:79076
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Maculopapular exanthema... OMIM:142680
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Esophagitis, Pituitary growth hormone cell adenoma, Elevated circulating... ORPHA:913
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal pain, Weight loss, Ileus, Abdominal distention ORPHA:168811
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Uveitis, Anorexia, Myocar... ORPHA:3452
Ppoma
Lack of bowel sounds, Elevated circulating growth hormone concentration, Hypoactive bowel sounds,... ORPHA:97278
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Prolonged bleeding time, Abdominal pain, Hematochezia, Epist... OMIM:203300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Increased circulating in... OMIM:301220
Polycythemia Vera
Gastrointestinal hemorrhage, Abdominal pain, Angina pectoris, Intermittent claudication, Budd-Chi... ORPHA:729
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:605735
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Decreased specific antibody response to vacc... OMIM:614700
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Petechiae, Br... OMIM:187900
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Increased serum interferon-gamma level, Purpura, Decreased circulating antibody level,... ORPHA:540
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting, Failure to thrive OMIM:613412
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Grfoma
Lack of bowel sounds, Elevated circulating growth hormone concentration, Hypoactive bowel sounds,... ORPHA:97261
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Duodenal... OMIM:174900
Congenital Tufting Enteropathy
Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Punc... ORPHA:92050
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Gastrointestinal... ORPHA:464321
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Bruising susceptibility, Gastrointestinal hemorrhage ORPHA:230839
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic diarrhea, Chronic otitis media, Weight loss, Conjunctivit... ORPHA:47
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ... OMIM:175500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Abdominal pain, Dysphagia, Abnormality of the gastrointestinal trac... ORPHA:298
Somatostatinoma
Lack of bowel sounds, Poor appetite, Increased circulating gonadotropin level, Elevated circulati... ORPHA:97283
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Viral hepatitis, Purpu... ORPHA:91138
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Abnormal serum interleukin level, Increased serum interferon-gamma level, Au... ORPHA:85410
Al Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tac... ORPHA:85443
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Weight loss, Protracted diarrhea, Conge... ORPHA:67
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Weight loss, Vascu... ORPHA:324964
Glucagonoma
Lack of bowel sounds, Skin rash, Elevated circulating growth hormone concentration, Weight loss, ... ORPHA:97280
Cronkhite-Canada Syndrome
Abdominal pain, Gastrointestinal carcinoma, Anorexia, Furrowed tongue, Stomach cancer, Intestinal... ORPHA:2930
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Cryptosporidiosis
Gastrointestinal obstruction, Abdominal pain, Dysphagia, Abdominal colic, Nausea, Abnormal esopha... ORPHA:1549
Shigellosis
Peritonitis, Pneumonia, Failure to thrive in infancy, Anorexia, Hypovolemic shock, Myocarditis, V... ORPHA:810
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Tenesmus, Palpitations, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Tenesmus, Palpitations, Right ventricular failure, Bowel urgency, Hematoche... ORPHA:100082
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Pulmonary embolism, Co... ORPHA:90308
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Diarrhea, Juvenile gastrointestinal polyposis, Abnormal onset of bl... ORPHA:2929
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Failure to thrive, Co... OMIM:618999
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Congestive heart failure, Diarrhea, Va... ORPHA:33226
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abdominal pain, Weight loss, Cachexia, Ileus, Testicular neoplasm, Nausea and v... ORPHA:83469
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Cachexia, Malabsorption, Duodenal ulcer ORPHA:3217
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Rectal polyposis, Neoplasm of the gastrointestinal tract, Adenocarcinoma of th... ORPHA:157794
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Nau... ORPHA:324636
Mixed Connective Tissue Disease
Skin rash, Prolonged bleeding time, Pericarditis, Gastrointestinal hemorrhage, Purpura, Gastroeso... ORPHA:809
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Tuberculosis
Weight loss ORPHA:3389
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Palpitations, Right ventricular failure, Bowel urgency, Abdominal pain, Hyp... ORPHA:100080
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Acute hepatic fai... ORPHA:537
Wolman Disease
Malnutrition, Steatorrhea, Esophageal varix, Cachexia, Hepatic failure, Nausea and vomiting, Abdo... ORPHA:75233
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Hepatocellular carcinoma, Chronic diarrhea, Cholelithiasis, Anorexia, Weight loss... ORPHA:65682
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Abnormal bleeding, Rectal polyposis, Hematochezia, Small intestinal poly... ORPHA:329971
Radiation Proctitis
Tenesmus, Arteritis, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gas... ORPHA:70475
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Portal hypertension, Gastrointestinal hemorrhage, Abdominal pain ORPHA:1414
Juvenile Dermatomyositis
Skin rash, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Abdominal ... ORPHA:93672
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Hypotension, Decreased body weight, Bradycardia, Increased circulatin... ORPHA:90051
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Vasculitis, Failure to thrive OMIM:617718
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Rhabdoid Tumor
Internal hemorrhage, Abdominal pain, Weight loss, Neoplasm of the liver, Hypertension, Nausea and... ORPHA:69077
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Feeding difficulties OMIM:612075
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Abdominal pain, Increased circu... ORPHA:449400
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Myocarditis, Sinusitis, Vomiting, Endocardi... ORPHA:73263
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Functional intestinal obstruction, Gastrointestinal ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Functional intestinal obstruction, Gastrointestinal ... ORPHA:100077
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Epistaxis, Weight loss, Anorexia,... ORPHA:79430
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Gastrointestinal hemorrhage, Petechiae, Malar rash, Increased ci... OMIM:603909
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Nephritis, Hyperuricemia OMIM:162000
Pleural Mesothelioma
Dysphagia, Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Weight loss, Myocarditis, Sinusitis, Myositis, Transient ischemic attack, Endocarditis... ORPHA:183
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Acute hepatic failure, Anor... ORPHA:99829
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Oculopharyngodistal Myopathy
High, narrow palate, Weight loss, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow respo... ORPHA:98897
Lassa Fever
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Conjunctivitis, Diarrhea, Nausea and vomi... ORPHA:99824
Sandifer Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Acute hepatic failure, Esophageal strictu... ORPHA:36426
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Anorexia, Weight loss, Pulmonary emboli... ORPHA:117
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Hematochezia, Intestinal malrotation, Hypoplasia of the thymus, Psoriasiform... OMIM:243150
Familial Pancreatic Carcinoma
Poor appetite, Functional intestinal obstruction, Exocrine pancreatic insufficiency, Abdominal pa... ORPHA:1333
Granulomatosis With Polyangiitis
Skin rash, Pericarditis, Weight loss, Cerebral ischemia, Sinusitis, Otitis media, Increased infla... ORPHA:900
Pachydermoperiostosis
Seborrheic dermatitis, Elevated circulating growth hormone concentration, Gastrointestinal hemorr... ORPHA:2796
Takayasu Arteritis
Increased inflammatory response, Gastrointestinal infarctions, Hypertensive crisis, Hypertrophic ... ORPHA:3287
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Refractory Celiac Disease
Malnutrition, Jejunitis, Abdominal pain, Villous atrophy, Chronic diarrhea, Weight loss, Protein-... ORPHA:398063
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
Neuroendocrine Tumor Of Stomach
Lack of bowel sounds, Poor appetite, Cardiogenic shock, Palpitations, Right ventricular failure, ... ORPHA:100075
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Arrhythmia, Aortic regurgitation, Hip osteoarthritis, Psoria... OMIM:106300
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Esophageal varix, Failure to thrive, Pulmonary arterial hypertension... ORPHA:974
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Sweet Syndrome
Inflammation of the large intestine, Pustule, Small vessel vasculitis, Abnormal serum interleukin... ORPHA:3243
Majeed Syndrome
Pustule, Synovitis, Weight loss, Abnormal inflammatory response, Cachexia, Failure to thrive, Mal... ORPHA:77297
Carney Triad
Gastrointestinal stroma tumor, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Pheochrom... ORPHA:139411
Polyarteritis Nodosa
Pericarditis, Abdominal pain, Abnormality of the gastrointestinal tract, Raynaud phenomenon, Weig... ORPHA:767
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Chronic diarrhea,... ORPHA:330001
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High palate, High, narrow pala... OMIM:177850
Yao Syndrome
Skin rash, Pericarditis, Abdominal pain, Weight loss, Xerostomia, Arthritis, Keratoconjunctivitis... OMIM:617321
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Intracranial hemorrhage, Subconjunctival... ORPHA:340
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Wolfram Syndrome
Gastric ulcer, Gastrointestinal hemorrhage, Constipation, Feeding difficulties in infancy, Malabs... ORPHA:3463
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, Recurrent skin infection... ORPHA:2686
Attrv30M Amyloidosis
Arrhythmia, Constipation, Weight loss, Atrioventricular block, Diarrhea, Cardiomyopathy ORPHA:85447
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm, Chronic diarrhea, Weight loss, Poor appetite ORPHA:2221
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia, Ecz... OMIM:618935
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Intestinal perforation, Intussusception, Abdominal pain, Colonic sten... ORPHA:90038
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Cocaine Intoxication
Ventricular arrhythmia, Cerebral hemorrhage, Vomiting, Bloody diarrhea, Hypovolemia, Gastrointest... ORPHA:90068
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Weight loss, Keratoconju... ORPHA:309031
Hereditary Central Diabetes Insipidus
Vomiting, Diarrhea, Weight loss ORPHA:30925
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Prolonged bleeding time, De... OMIM:600903
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Elevated ci... ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal bleeding, Decreased specific anti-polysaccharide an... OMIM:614576
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Medullary Thyroid Carcinoma
Pheochromocytoma, Dysphagia, Weight loss, Diarrhea, Primary hyperparathyroidism, Nodular goiter ORPHA:1332
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Episodic vomiting, Cardiog... ORPHA:100076
Mastocytosis
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the skin, Anorexia, Diarr... ORPHA:98292
Acrodermatitis Enteropathica
Poor appetite, Pustule, Glossitis, Chronic diarrhea, Cheilitis, Anorexia, Furrowed tongue, Conjun... ORPHA:37
Anaplastic Thyroid Carcinoma
Goiter, Dysphagia, Weight loss, Nodular goiter, Tracheoesophageal fistula ORPHA:142
Primary Intestinal Lymphangiectasia
Abdominal pain, Decreased circulating antibody level, Weight loss, Diarrhea, Ileus, Failure to th... ORPHA:90362
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Nasogastric tube fe... ORPHA:1018
Pseudoxanthoma Elasticum
Skin rash, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Bruising sus... ORPHA:758
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Esophageal carcinoma, Thyroiditis, Villous atrophy, Renovascular hypertension, He... ORPHA:391487
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Esophageal varix, Anorexia, Hypertension, P... ORPHA:394
Peritoneal Cystic Mesothelioma
Peritonitis, Abdominal pain, Constipation, Weight loss, Menorrhagia, Abdominal distention ORPHA:168816
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Increased circulating IgE level, Prolon... OMIM:301000
Immunoglobulin A Vasculitis
Skin rash, Pustule, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Pu... ORPHA:761
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Intussusception, A... OMIM:175200
Tyrosinemia, Type I
Paralytic ileus, Abnormal bleeding, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Acute ... OMIM:276700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Gastroesophageal reflux, Sudden cardiac death, Necrotizing enterocolit... OMIM:201475
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Pneumonia, Raynaud phen... ORPHA:247691
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antiphospholi... OMIM:152700
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Diarrhea, Weight loss ORPHA:33276
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Aortic regurgitation, Abdominal pain,... ORPHA:29207
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424016
Celiac Disease, Susceptibility To, 1
Abdominal pain, Thyroiditis, Stomatitis, Steatorrhea, Weight loss, Diarrhea, Decreased circulatin... OMIM:212750
Nephroblastoma
Hypertension, Weight loss, Neoplasm of the liver, Abdominal pain ORPHA:654
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Scleroderma
Pericarditis, Abnormal large intestine morphology, Myocarditis, Pulmonary arterial hypertension, ... ORPHA:801
Christianson Syndrome
Dysphagia, Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia ORPHA:85278
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Vomiting,... ORPHA:3260
Central Diabetes Insipidus
Weight loss, Anorexia, Diarrhea, Failure to thrive, Nausea and vomiting ORPHA:178029
Huntington Disease-Like 2
Weight loss ORPHA:98934
Systemic Sclerosis
Pericarditis, Abnormal esophagus morphology, Abnormal large intestine morphology, Myocarditis, Pu... ORPHA:90291
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Sinusitis, Eczema, Otitis media, Purpura, Chronic diarrhea, Epistaxis, H... ORPHA:906
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Bloody diarrhea, Anoperineal fistula, Perianal abscess, Increase... OMIM:618213
Reynolds Syndrome
Lip telangiectasia, Gastrointestinal hemorrhage, Steatorrhea, Palmar telangiectasia, Raynaud phen... OMIM:613471
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia ORPHA:1198
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Weight loss, Palmar telangiectasia, Uveitis, Acute hepa... ORPHA:171
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Panhypogammaglobulinemia, Colitis, Hypoplasia of the thymu... ORPHA:84064
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Hypertension ORPHA:97229
X-Linked Creatine Transporter Deficiency
Constipation, Aganglionic megacolon, Cachexia, Ileus ORPHA:52503
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Autoimmune Lymphoproliferative Syndrome
Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi... ORPHA:3261
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Tetrasomy 12P
Anal atresia, Cachexia, Abnormal soft palate morphology ORPHA:884
Renpenning Syndrome
Anal atresia, Cachexia, Cleft palate, Decreased testicular size, High, narrow palate ORPHA:3242
Glossopharyngeal Neuralgia
Malnutrition, Feeding difficulties, Weight loss, Oral-pharyngeal dysphagia, Odynophagia, Jaw clau... ORPHA:221098
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Abdominal pain, Orthostatic hypotension, Hypotension, Constipation, Hashimoto... ORPHA:199299
Acute Myelomonocytic Leukemia
Abnormal bleeding, Weight loss ORPHA:517
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Arrhythmia, Cholelithiasis, Weight loss, Failure to thrive in infancy... ORPHA:171876
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Abnormal bleeding, Protuberant abdomen, Hepatocellular adeno... ORPHA:79259
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Increased serum interferon-gamma level, Abnorma... ORPHA:542323
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Cachexia, Feeding difficulties, Arrhythmia ORPHA:157973
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Fatal Familial Insomnia
Dysphagia, Constipation, Weight loss OMIM:600072
Castleman Disease
Abdominal pain, Abnormality of the gastrointestinal tract, Restrictive cardiomyopathy, Weight los... ORPHA:160
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Nausea and vomiting,... ORPHA:565
Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:98293
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Hypercalcemia, Infantile, 1
Weight loss, Pulmonic stenosis, Aortic valve stenosis, Failure to thrive, Vomiting OMIM:143880
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Vipoma
Poor appetite, Increased circulating gonadotropin level, Elevated circulating growth hormone conc... ORPHA:97282
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Feeding difficulties, Pancreatic cysts, Biliary hyperplasia, Esophag... ORPHA:731
Isaac Syndrome
Weight loss ORPHA:84142
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Esophageal stricture,... ORPHA:2908
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Erythrokeratodermia Variabilis
Skin rash, Weight loss, Abnormal testis morphology ORPHA:317
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia, Weight loss ORPHA:216866
Huntington Disease
Decreased body mass index, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Morbilliform rash, Lymphadenitis, Maculopapular e... ORPHA:31205
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Purpura, Abdominal pain, Oral cavity bleeding, Stomatitis, Weight ... ORPHA:520
22Q11.2 Deletion Syndrome
Cryptorchidism, Seborrheic dermatitis, Intestinal malrotation, Corneal neovascularization, Obesit... ORPHA:567
Plague
Skin rash, Chapped lip, Anorexia, Diarrhea, Vomiting, Bloody diarrhea, Glossitis, Endocarditis, L... ORPHA:707
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Palpitations, Right ventricular failure, Right bundle branch... ORPHA:70591
Neuropathy, Congenital Hypomyelinating, 3
High palate, Gastroesophageal reflux, Cachexia OMIM:618186
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Villous atrophy, Biliary hyperplasia, Cholelithiasis, Small for gestational age, ... ORPHA:567983
Caroli Disease
Abdominal pain, Nausea, Esophageal varix, Cholelithiasis, Anorexia, Cholangitis, Weight loss, Cho... ORPHA:53035
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Diarrhea, Failure to thrive, Nausea and vomiting, Hypertrophic cardiomyopathy ORPHA:1842
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Weight loss, Bronchiectasis ORPHA:1164
Primary Hepatic Neuroendocrine Carcinoma
Palpitations, Right ventricular failure, Nausea, Neoplasm of the liver, Anorexia, Weight loss, He... ORPHA:100085
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Elevated circulating growth hormone concentration, Right ventric... ORPHA:97287
Microsporidiosis
Peritonitis, Thyroiditis, Pneumonia, Weight loss, Anorexia, Abnormality of the parathyroid gland,... ORPHA:2552
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating... ORPHA:247598
Mulibrey Nanism
Cachexia ORPHA:2576
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Recurrent pneumonia, Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Bru... OMIM:225400
Glucose-Galactose Malabsorption
Malnutrition, Weight loss, Hyperactive bowel sounds, Diarrhea, Failure to thrive, Vomiting, Abdom... ORPHA:35710
Leishmaniasis
Abnormal bleeding, Increased circulating antibody level, Weight loss, Anorexia, Rhinitis ORPHA:507
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Nausea, Weight loss, Anorexia, Cholecystitis, Abdominal distention, Episo... ORPHA:100086
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Abdominal pain ORPHA:99978
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Vasculitis, Increased circulating IgM level, Decreased circu... ORPHA:2442
Graves Disease, Susceptibility To, 1
Congestive heart failure, Goiter, Weight loss OMIM:275000
Fructose Intolerance, Hereditary
Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Nausea, Failure to thrive, Vomiting OMIM:229600
Huntington Disease-Like 2
Weight loss OMIM:606438
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties, Abdomina... ORPHA:275761
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Abdominal pain, Hepatocellular carcinoma, Elevated jugular venous pressure, Chronic h... ORPHA:465508
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multiple Endocrine Neoplasia Type 1
Elevated circulating growth hormone concentration, Insulinoma, Pituitary thyrotropic cell adenoma... ORPHA:652
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Chronic otitis media, Weight loss, Nausea and v... ORPHA:3226
Rett Syndrome
Constipation, Gastroesophageal reflux, Abnormal T-wave, Cachexia, Prolonged QTc interval OMIM:312750
Focal Myositis
Myositis, Weight loss ORPHA:48918
Moynahan Syndrome
Cachexia ORPHA:2574
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss, Poor appetite ORPHA:312
Familial Glucocorticoid Deficiency
Cryptorchidism, Azoospermia, Hypotension, Constipation, Leydig cell neoplasia, Anorexia, Weight l... ORPHA:361
Giant Cell Arteritis
Arrhythmia, Glossitis, Pericarditis, Abdominal pain, Gastrointestinal infarctions, Epistaxis, Wei... ORPHA:397
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Abdominal pain, Hypotension, Weight loss, Diarrhea, Pancreatitis, Myoca... ORPHA:188
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Wilson Disease
Acute hepatitis, Acute hepatic failure, Weight loss, Hepatitis, Increased body weight, Failure to... ORPHA:905
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Goiter, Weight loss OMIM:613239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Goiter, Weight loss OMIM:188580
Acute Liver Failure
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, ... ORPHA:90062
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Bronchiectasis, Inc... OMIM:181000
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hematochezia, Decreased circulating antibody level, Protein-losing enteropathy, S... OMIM:618183
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Caroli Syndrome
Abnormal bleeding, Hematemesis, Abdominal pain, Portal hypertension, Esophageal varix, Melena, Ch... ORPHA:480520
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Posit... ORPHA:276621
Holocarboxylase Synthetase Deficiency
Perioral eczema, Weight loss, Anorexia, Nausea and vomiting, Eczema, Keratoconjunctivitis ORPHA:79242
Classic Hodgkin Lymphoma
Skin rash, Weight loss, Poor appetite, Anorexia ORPHA:391
Brucellosis
Pericarditis, Pneumonia, Weight loss, Anorexia, Increased circulating IgG level, Small for gestat... ORPHA:1304
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Hypotension, Nausea, Weight loss, Peptic ulcer, Diarrhea, Tachycardia, Syncope ORPHA:98849
Parathyroid Carcinoma
Parathyroid carcinoma, Episodic abdominal pain, Shortened QT interval, Dysphagia, Constipation, W... ORPHA:143
Gm1 Gangliosidosis
Macroglossia, Feeding difficulties, Dysphagia, Gastroesophageal reflux, Gastrostomy tube feeding ... ORPHA:354
Multiple Endocrine Neoplasia, Type I
Esophagitis, Prolactinoma, Elevated circulating growth hormone concentration, Zollinger-Ellison s... OMIM:131100
Angioosteohypertrophic Syndrome
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the ... ORPHA:2346
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Idiopathic Bronchiectasis
Myocardial infarction, Acute infectious pneumonia, Cachexia, Bronchiectasis ORPHA:60033
Juvenile Huntington Disease
Weight loss ORPHA:248111
Congenital Dyserythropoietic Anemia Type Iii
Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Melena ORPHA:98870
Eosinophilic Fasciitis
Myositis, Arthritis, Weight loss, Fasciitis ORPHA:3165
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Acute hepatic failure, W... ORPHA:139402
Turcot Syndrome With Polyposis
Hematochezia, Abdominal pain, Constipation, Nausea, Pituitary adenoma, Desmoid tumors, Melena, Ad... ORPHA:99818
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Weight loss, Neoplasm of the liver ORPHA:2126
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Gas... OMIM:600376
Silver-Russell Syndrome
Cryptorchidism, Feeding difficulties, Constipation, Gastroesophageal reflux, Failure to thrive in... ORPHA:813
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss, Abnormal testis morphology ORPHA:54251
Addison Disease
Hypoparathyroidism, Abdominal pain, Orthostatic hypotension, Primary testicular failure, Constipa... ORPHA:85138
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Desmoid tumors, Adenomatous colonic polyposis, Duodenal polyposis, High pala... ORPHA:261584
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Weight loss, Abnormal atriovent... ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Cachexia, Feeding difficulties, Failure to thrive in infancy OMIM:616801
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Small for gestational age, Diarrhea, Thyroid hyperplasia ORPHA:424
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intracranial hemorrhage, Angina pectoris, Hashimoto thyroiditis, Subcutaneous hemo... ORPHA:109
Plasminogen Deficiency, Type I
Conjunctivitis, Periodontitis, Duodenal ulcer, Nephritis OMIM:217090
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Intraventricular hemorrhage, Abdominal pain, Te... ORPHA:420741
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Diarrhea, Bronchiectasis ORPHA:411703
Mast Cell Sarcoma
Weight loss ORPHA:66661
Felty Syndrome
Pericarditis, Chronic otitis media, Synovitis, Weight loss, Sinusitis, Episcleritis, Rhinitis, Re... ORPHA:47612
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased liver function, Diarrhea, Cachexia, Vomiting ORPHA:42
Follicular Lymphoma
Weight loss ORPHA:545
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Hypertension, Weight loss, Diarrhea, Failure to thrive OMIM:256700
Pancreatoblastoma
Abdominal pain, Weight loss, Pancreatic calcification, Diarrhea, Vomiting, Abdominal distention ORPHA:677
Frontometaphyseal Dysplasia 2
Cryptorchidism, Gastroesophageal reflux, Ulcerative colitis, Pulmonic stenosis, Cleft palate, Bif... OMIM:617137
Hepatocellular Carcinoma
Internal hemorrhage, Abdominal pain, Hypotension, Abnormal rectum morphology, Budd-Chiari syndrom... ORPHA:88673
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Pneumonia, Melena, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Corn... OMIM:158310
Xfe Progeroid Syndrome
Cachexia, Hypertension OMIM:610965
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain ORPHA:538
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Hematochezia, Epistaxis, Gastrointestinal carcinoma, Juvenile gastrointe... OMIM:175050
Insulin-Resistance Syndrome Type B
Skin rash, Enlarged ovaries, Abnormality of body weight, Abnormal salivary gland morphology, Pneu... ORPHA:2298
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Nodular Non-Suppurative Panniculitis
Abdominal pain, Panniculitis, Weight loss, Nausea and vomiting, Inflammatory abnormality of the eye ORPHA:33577
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227990
Infantile Krabbe Disease
Feeding difficulties, Gastroesophageal reflux, Nasogastric tube feeding in infancy, Abnormal hear... ORPHA:206436
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Prolonged prothrombin time, Obesity ORPHA:96168
Hereditary Xanthinuria
Hypouricemia, Rheumatoid arthritis, Gout, Hyperxanthinemia, Arthropathy ORPHA:3467
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm... ORPHA:449395
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rh... ORPHA:100026
Granulomatosis With Polyangiitis
Chronic otitis media, Uveitis, Weight loss, Diffuse alveolar hemorrhage, Conjunctivitis, Keratiti... OMIM:608710
Hereditary Late-Onset Parkinson Disease
Dysphagia, Chronic constipation, Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Posit... ORPHA:29072
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, R... ORPHA:227982
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Gas... OMIM:187300
Myasthenia Gravis
Systemic lupus erythematosus, Muscle specific kinase antibody positivity, Rheumatoid arthritis, H... ORPHA:589
Q Fever
Endocarditis, Pericarditis, Purpura, Increased circulating antibody level, Cholecystitis, Abnorma... ORPHA:781
Familial Gestational Hyperthyroidism
Weight loss, Goiter, Diarrhea, Thyroid hyperplasia ORPHA:99819
Chronic Graft Versus Host Disease
Bronchiectasis, Abdominal pain, Dysphagia, Urinary bladder inflammation, Gastroesophageal reflux,... ORPHA:99921
8P23.1 Microdeletion Syndrome
Cryptorchidism, Weight loss, Obesity, High palate, Hypertrophic cardiomyopathy ORPHA:251071
Bannayan-Riley-Ruvalcaba syndrome
Intussusception, Hematochezia, Hashimoto thyroiditis, High palate, Hamartomatous polyposis, Super... OMIM:153480
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Abdominal pain, Large vessel vasculitis, Renovascular hypertension, Rheumatoid ... ORPHA:49041
Neurofibroma
Enlargement of parotid gland, Recurrent otitis media, Intestinal bleeding, Multiple intestinal ne... ORPHA:252183
Multiple Myeloma
Decreased circulating antibody level, Weight loss, Functional abnormality of the gastrointestinal... ORPHA:29073
20Q13.33 Microdeletion Syndrome
Small for gestational age, Failure to thrive in infancy, Hematochezia ORPHA:261311
Huntington Disease-Like 1
Weight loss ORPHA:157941
Primary Myelofibrosis
Abnormal bleeding, Purpura, Anorexia, Petechiae, Cachexia, Portal hypertension, Ecchymosis ORPHA:824
Pelizaeus-Merzbacher Disease
Bowel incontinence, Cachexia, Failure to thrive in infancy ORPHA:702
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Alveolar Echinococcosis
Cutaneous abscess, Abdominal pain, Increased circulating antibody level, Pancreatic cysts, Budd-C... ORPHA:284
Peripheral Primitive Neuroectodermal Tumor
Abnormal bleeding, Ovarian neoplasm, Weight loss, Anorexia, Pancreatitis, Nausea and vomiting, Ne... ORPHA:370348
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Feeding difficulties, Constipation, Nasogastric tube feeding in infancy, Cachexia, Severe failure... ORPHA:371364
Juvenile Amyotrophic Lateral Sclerosis
Dysphagia, Gastrostomy tube feeding in infancy, Cachexia ORPHA:300605
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Cystic Echinococcosis
Ovarian cyst, Increased circulating antibody level, Abnormality of the testis size, Membranous ne... ORPHA:400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Feeding difficulties, Cachexia, Failure to thrive, Supernumerary nipple ORPHA:217346
Osteosarcoma
Weight loss ORPHA:668
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Weight loss, Pituitary null cell adenoma, Increased circulating... ORPHA:97289
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Anorexia, Hypertension, Diarrhea, Vomiting ORPHA:134
Thymic Carcinoma
Weight loss ORPHA:99868
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Weight loss, Acute pancreatitis, Reye syndrome-like episodes, Anorexia, Episodic vom... ORPHA:20
Acute Adrenal Insufficiency
Orthostatic hypotension, Abdominal pain, Hypovolemia, Hypotension, Constipation, Weight loss, Ano... ORPHA:95409
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Oral leukoplakia, Retinal telangiectasia, Intestinal bleeding OMIM:612199
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dysphagia, Weight loss, Dilated cardiomyopathy, High palate OMIM:164310
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Chronic diarrhea, Anal atresia, Cachexia, Cleft palate, Anore... ORPHA:647
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Cryptogenic Organizing Pneumonia
Weight loss, Anorexia ORPHA:1302
Dermatomyositis
Gastrointestinal stroma tumor, Arrhythmia, Pericarditis, Sinus tachycardia, Weight loss, Telangie... ORPHA:221
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Joint swelling, Autoimmune thrombocytopenia, Autoimmunity, Recurren... OMIM:607944
Adrenocortical Carcinoma
Palpitations, Abdominal pain, Weight loss, Hypertension, Adrenocorticotropic hormone deficiency, ... ORPHA:1501
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Abnormality of the ovary, Inc... ORPHA:99226
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Renal Nutcracker Syndrome
Orthostatic hypotension, Abdominal pain, Nausea, Weight loss, Tachycardia, Syncope ORPHA:71273
Fanconi Anemia
Meckel diverticulum, Cryptorchidism, Absent testis, Azoospermia, Abnormal testis morphology, Apla... ORPHA:84
Acute Monoblastic/Monocytic Leukemia
Weight loss, Anorexia ORPHA:514
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Short Syndrome
Weight loss, Poor appetite ORPHA:3163
Poems Syndrome
Pulmonary arterial hypertension, Increased circulating antibody level, Increased circulating prol... ORPHA:2905
X-Linked Intellectual Disability, Cabezas Type
High palate, Decreased testicular size, Cachexia, Obesity ORPHA:85293
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Abnormality of the pituitary gland, Increased circulating g... ORPHA:91347
Trisomy 18
Cryptorchidism, Narrow palate, Esophageal atresia, Anal atresia, Cachexia, Cleft palate ORPHA:3380
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Congenital Fiber-Type Disproportion Myopathy
Feeding difficulties, Dysphagia, Nasogastric tube feeding in infancy, Weight loss, Aspiration pne... ORPHA:2020
Pyomyositis
Testicular teratoma, Weight loss, Sudden cardiac death, Recurrent cutaneous abscess formation, My... ORPHA:764
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Familial Thrombocytosis
Abnormal bleeding, Weight loss, Cerebral ischemia, Pulmonary arterial hypertension, Transient isc... ORPHA:71493
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Azoospermia, Feeding difficulties, Spontaneous, recurrent epistaxis, Esophageal va... ORPHA:2072
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy