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Gene: Pglyrp2 MGI:1928099

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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:
C730002N09Rik,  tagL,  PGRP-L,  tagL-alpha,  tagl-beta,  Pglyrpl

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... ORPHA:2198
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:98881
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Failure to thrive ORPHA:79301
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ganglioneuroma
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... ORPHA:251992
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss ORPHA:930
Glycoprotein Storage Disease
Gout OMIM:232900
Glanzmann Thrombasthenia
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... ORPHA:849
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... ORPHA:26790
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Arthritis, Dysphagia, Intestinal pseudo-obstruction, Gastrointestinal h... ORPHA:85446
Mantle Cell Lymphoma
Anorexia, Weight loss, Abnormality of the gastrointestinal tract ORPHA:52416
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... ORPHA:2924
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Budd-Chiari Syndrome
Malabsorption, Abdominal pain, Acute hepatic failure, Peritonitis, Cholecystitis, Intestinal obst... ORPHA:131
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... ORPHA:388
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... OMIM:231200
Desmoid Tumor
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Intestinal polyposis, Gast... ORPHA:873
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Gastrointestinal hemorrhage, Bruising susceptibility OMIM:137560
Carney-Stratakis Syndrome
Abdominal pain, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia, Gastrointestina... ORPHA:97286
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Mpi-Cdg
Decreased liver function, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy, Port... ORPHA:79319
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulatin... ORPHA:33355
Burkitt Lymphoma
Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting, Abnorma... ORPHA:543
Congenital Factor Xi Deficiency
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... ORPHA:329
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... OMIM:619281
Isolated Congenital Hypoglossia/Aglossia
Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i... ORPHA:141152
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Ovarian cyst, Intracranial hem... ORPHA:327
Hemophilia B
Joint hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Osteoarthritis, Gastrointe... OMIM:306900
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Osteoarthritis, Gast... OMIM:306800
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr... OMIM:209920
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ab... ORPHA:2869
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Esophageal varix, Portal hypertension OMIM:617341
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... ORPHA:331
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... ORPHA:44890
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... ORPHA:2070
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Vascular Hyalinosis
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy OMIM:277175
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... OMIM:614602
Blue Rubber Bleb Nevus
Intestinal bleeding, Skin rash, Gastrointestinal infarctions, Volvulus, Prolonged bleeding time ORPHA:1059
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Pfapa Syndrome
Malabsorption, Abdominal pain, Arthritis, Weight loss, Infectious encephalitis, Nausea and vomiting ORPHA:42642
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... OMIM:105835
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Acute colitis, Increased circulating interleukin 6 concentration, Bloody diarrh... ORPHA:544482
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Arthritis, In... ORPHA:343
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... ORPHA:411696
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abdominal pain, Arteritis, Peritonitis, Gastrointestinal infarctions,... ORPHA:679
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, ... OMIM:616050
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... OMIM:243150
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Elevated circulating... ORPHA:85435
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased liver function, Petechiae, Gastroesophageal reflux, Abdominal pain, Oligospe... ORPHA:85450
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ... ORPHA:2137
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Laryngeal Neuroendocrine Tumor
Anorexia, Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia ORPHA:100083
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Typhoid
Constipation, Abdominal pain, Skin rash, Epistaxis, Diarrhea, Arrhythmia, Infectious encephalitis... ORPHA:99745
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Abdominal pain, Anorexia, Maculopapula... ORPHA:98850
Interstitial Granulomatous Dermatitis With Arthritis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Inflammatory abnorma... ORPHA:79099
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... ORPHA:1876
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Abdominal pain, Skin rash, Diarrhea, Hyp... ORPHA:99828
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis OMIM:604416
Ebola Hemorrhagic Fever
Melena, Increased circulating antibody level, Abdominal pain, Abnormal bleeding, Maculopapular ex... ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis, Decreased circulating antibody level OMIM:613101
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Polymyositis
Gastroesophageal reflux, Constipation, Abdominal pain, Anorexia, Arrhythmia, Vasculitis, Arthriti... ORPHA:732
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody... ORPHA:90003
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Abdominal pain, Sk... OMIM:301074
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Constipation,... ORPHA:144
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Constipat... ORPHA:440437
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Episodic a... ORPHA:913
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Abdominal pain, Skin rash, Maculopapular exanthema, Vomiting, Erysipelas, Myositi... OMIM:142680
Malignant Peritoneal Mesothelioma
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Weight loss ORPHA:168811
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Whipple Disease
Malabsorption, Abdominal pain, Anorexia, Cachexia, Diarrhea, Myositis, Myocarditis, Hypotension, ... ORPHA:3452
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Bloody diarrhea, Vitreous hemorrhage, Hematemesis, Cerebral hemorrhage, Morphological abn... ORPHA:464321
Ppoma
Cholelithiasis, Constipation, Intestinal carcinoid, Neoplasm of the small intestine, Diarrhea, In... ORPHA:97278
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,... OMIM:301220
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Abdomi... ORPHA:729
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Subcutaneous hemorrhage, Abdominal pain, Skin rash, Peritonitis, Diarrhe... ORPHA:727
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Recurr... OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Bernard-Soulier Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... ORPHA:274
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:605735
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Abdominal pain, Raynaud phenomenon, Monoclonal elevation of circulati... ORPHA:91139
Esophagitis, Eosinophilic, 1
Dysphagia, Failure to thrive, Vomiting, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Failure to thrive, Vomiting, Esophagitis OMIM:613412
Immunodeficiency 58
Bronchiectasis, Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, ... OMIM:618131
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepatic... ORPHA:774
X-Linked Agammaglobulinemia
Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Chronic otit... ORPHA:47
Juvenile Polyposis Syndrome
Failure to thrive, Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcin... OMIM:174900
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Al Amyloidosis
Increased circulating antibody level, Abnormal P wave, Abdominal distention, Macroglossia, Bruisi... ORPHA:85443
Grfoma
Cholelithiasis, Constipation, Intestinal carcinoid, Neoplasm of the small intestine, Diarrhea, In... ORPHA:97261
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... ORPHA:67
Hermansky-Pudlak Syndrome 1
Colitis, Bruising susceptibility, Abdominal pain, Inflammation of the large intestine, Hematochez... OMIM:203300
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Congenital Short Bowel Syndrome
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... OMIM:615237
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... OMIM:175500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Abnormal circulating interleukin... ORPHA:85410
Cryoglobulinemic Vasculitis
Petechiae, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointestinal infarctions, ... ORPHA:91138
Bleeding Disorder, Platelet-Type, 17
Petechiae, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding following procedure, Ec... OMIM:187900
Somatostatinoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Pituitary adenoma, Elevated c... ORPHA:97283
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea ORPHA:3217
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting OMIM:616809
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... ORPHA:100082
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Vasculitis, Inflammation of the large intestin... ORPHA:324964
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Cronkhite-Canada Syndrome
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Cachexia, Diarrhea, Furrowed tongue, Int... ORPHA:2930
Hepatoportal Sclerosis
Abnormal bleeding, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Portal hypertension... ORPHA:64743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... ORPHA:37042
Waldenström Macroglobulinemia
Malabsorption, Anorexia, Diarrhea, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Ga... ORPHA:33226
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... ORPHA:1416
Glucagonoma
Constipation, Steatorrhea, Diarrhea, Increased circulating prolactin concentration, Glossitis, Ga... ORPHA:97280
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Vomiting, Myocarditis, Uveitis, Pneumo... ORPHA:810
Klippel-Trénaunay Syndrome
Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastrointestinal hemorrhage, Co... ORPHA:90308
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Myocardi... ORPHA:73263
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Subdural hemorrhage, Hematemesis, Persistent bleeding after tr... OMIM:202400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Shock, Abnormal intestine morpholo... OMIM:600351
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... OMIM:603041
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Abdominal distention, Ovarian neoplasm, Abdominal pain, Cachexia... ORPHA:83469
Wolman Disease
Abdominal distention, Hepatic failure, Steatorrhea, Cachexia, Esophageal varix, Malnutrition, Nau... ORPHA:75233
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Co... OMIM:618999
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... ORPHA:2929
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain ORPHA:1414
Neuroendocrine Tumor Of The Colon
Melena, Bowel urgency, Bloody diarrhea, Tricuspid regurgitation, Abdominal pain, Hypoactive bowel... ORPHA:100080
Blue Rubber Bleb Nevus
Volvulus, Intestinal bleeding, Rectal prolapse, Intussusception OMIM:112200
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... ORPHA:71272
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Hyperplastic colonic polyposis, Intussusce... ORPHA:157794
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastr... ORPHA:911
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Pancreatitis, Abdominal pain, Anorexia, Hepatocellular carcinoma, Weight loss, Ch... ORPHA:65682
Diffuse Cutaneous Mastocytosis
Abdominal pain, Diarrhea, Vomiting, Hypotension, Malnutrition, Erythroderma, Gastrointestinal hem... ORPHA:79456
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
Toxic Epidermal Necrolysis
Malabsorption, Pancreatitis, Conjunctivitis, Abdominal pain, Acute hepatic failure, Tracheoesopha... ORPHA:537
Mixed Connective Tissue Disease
Gastroesophageal reflux, Gastritis, Skin rash, Xerostomia, Myositis, Myocarditis, Arthritis, Kera... ORPHA:809
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Diarrhea, Menorrhagia, Vomiti... ORPHA:324636
Tuberculosis
Weight loss ORPHA:3389
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased liver function, Petechiae, Abdominal... ORPHA:90051
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Abnormal blee... ORPHA:329971
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Intestinal atresia, Cachexia ORPHA:93941
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Intestinal obstruction, Increased circulati... ORPHA:449400
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... OMIM:619802
Ileal Neuroendocrine Tumor
Episodic abdominal pain, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricula... ORPHA:100078
Jejunal Neuroendocrine Tumor
Episodic abdominal pain, Hepatic failure, Tricuspid stenosis, Pulmonic stenosis, Right ventricula... ORPHA:100077
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointestinal hemo... ORPHA:117
Neuroendocrine Tumor Of Stomach
Melena, Bowel urgency, Bloody diarrhea, Episodic abdominal pain, Hematemesis, Tricuspid regurgita... ORPHA:100075
Pleural Mesothelioma
Dysphagia, Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Constipation, Mucosal telangiec... ORPHA:93672
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Rhabdoid Tumor
Neoplasm of the liver, Abdominal pain, Weight loss, Internal hemorrhage, Hypertension, Nausea and... ORPHA:69077
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss OMIM:612075
Hermansky-Pudlak Syndrome
Malabsorption, Bruising susceptibility, Abdominal pain, Abnormal bleeding, Anorexia, Gastrointest... ORPHA:79430
Autoimmune Lymphoproliferative Syndrome, Type Iia
Petechiae, Increased circulating IgA level, Nephritis, Malar rash, Increased circulating IgG leve... OMIM:603909
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myocardial infarction, Increased inflammatory response, Transient ischemic attack, W... ORPHA:183
Pachydermoperiostosis
Malabsorption, Eczematoid dermatitis, Osteomyelitis, Elevated circulating growth hormone concentr... ORPHA:2796
Craniofaciofrontodigital Syndrome
Gastroesophageal reflux, Aortic valve stenosis, Macroglossia, Mitral regurgitation, Arrhythmia, P... ORPHA:363705
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Vasculitis, Inflammation of the large intestine OMIM:617718
Takayasu Arteritis
Hypertrophic cardiomyopathy, Anorexia, Vasculitis, Cerebral ischemia, Arthritis, Myocardial infar... ORPHA:3287
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... ORPHA:398063
Oculopharyngodistal Myopathy
High palate, High, narrow palate, Impaired oropharyngeal swallow response, Recurrent aspiration p... ORPHA:98897
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, Pneumonia, Weight loss, Colitis, Osteomyel... OMIM:619381
Stevens-Johnson Syndrome
Pancreatitis, Abdominal pain, Acute hepatic failure, Sudden cardiac death, Diarrhea, Esophageal s... ORPHA:36426
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Gastrointestinal hemorrhage, Tela... OMIM:192315
Granulomatosis With Polyangiitis
Angina pectoris, Pancreatitis, Otitis media, Increased inflammatory response, Gastrointestinal he... ORPHA:900
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Neoplasm of the liver, Exocrine pancreatic insufficiency, Abdominal pa... ORPHA:1333
Rheumatoid Arthritis
Joint stiffness, Joint swelling, Elevated circulating C-reactive protein concentration, Rheumatoi... OMIM:180300
Adams-Oliver Syndrome
Failure to thrive, Esophageal varix, Portal hypertension, Gastrointestinal hemorrhage, Pulmonary ... ORPHA:974
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, C... ORPHA:77297
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal hemorrhage, Gastr... OMIM:177850
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Arrhythmia, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthr... OMIM:106300
Polyarteritis Nodosa
Abdominal pain, Raynaud phenomenon, Abnormality of the gastrointestinal tract, Weight loss, Hyper... ORPHA:767
Sapho Syndrome
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... ORPHA:793
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, My... ORPHA:330001
Attrv30M Amyloidosis
Constipation, Diarrhea, Arrhythmia, Weight loss, Cardiomyopathy, Atrioventricular block ORPHA:85447
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Decreased circulating IgA level, Intussusception, Decreased c... ORPHA:90363
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Abnormal bleeding, Infl... OMIM:614576
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... ORPHA:90038
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Carney Triad
Abdominal pain, Gastrointestinal stroma tumor, Anorexia, Diarrhea, Arrhythmia, Tachycardia, Pheoc... ORPHA:139411
Cocaine Intoxication
Supraventricular arrhythmia, Subarachnoid hemorrhage, Vomiting, Myocardial infarction, Prolonged ... ORPHA:90068
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Decreased circu... ORPHA:90362
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... ORPHA:555905
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Macroglossia, Glossitis, Chronic diarrhea, Weight loss, Poor appetite ORPHA:2221
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... ORPHA:2686
Yao Syndrome
Inflammatory abnormality of the skin, Abdominal pain, Skin rash, Diarrhea, Xerostomia, Keratoconj... OMIM:617321
Wolfram Syndrome
Malabsorption, Constipation, Feeding difficulties in infancy, Gastrointestinal hemorrhage, Gastri... ORPHA:3463
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... OMIM:618935
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility ORPHA:399180
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Diarrh... OMIM:131100
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Anaplastic Thyroid Carcinoma
Nodular goiter, Tracheoesophageal fistula, Goiter, Dysphagia, Weight loss ORPHA:142
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Pseudoxanthoma Elasticum
High palate, Telangiectasia of the skin, Angina pectoris, Bruising susceptibility, Skin rash, Res... ORPHA:758
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Elevated circulating C-reactive protein concentration, Skin rash, Juvenile rheuma... ORPHA:85414
Thymoma
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Decreased circulating ant... ORPHA:99867
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Multiple gastric polyps, Intussus... OMIM:175200
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... ORPHA:100076
Immunoglobulin A Vasculitis
Orchitis, Pustule, Bruising susceptibility, Abdominal pain, Anorexia, Skin rash, Vasculitis, Arth... ORPHA:761
Acrodermatitis Enteropathica
Blepharitis, Malabsorption, Cheilitis, Failure to thrive, Pustule, Anorexia, Glossitis, Furrowed ... ORPHA:37
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Mastocytosis
Telangiectasia of the skin, Anorexia, Diarrhea, Arrhythmia, Hypotension, Gastrointestinal hemorrh... ORPHA:98292
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Esophageal neoplasm, Dyspepsia, Failure to thrive, Gastroesophageal reflux, Morphologi... ORPHA:1018
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal ca... ORPHA:391487
Medullary Thyroid Carcinoma
Nodular goiter, Primary hyperparathyroidism, Diarrhea, Pheochromocytoma, Dysphagia, Weight loss ORPHA:1332
Immunodeficiency 27A
Anorexia, Diarrhea, Increased circulating IgG level, Increased inflammatory response, Increased c... OMIM:209950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Abdominal pain, Eczema, Lymphadenitis, Inflammation of the large intestine, He... OMIM:615895
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Eosinophilic infiltration of the esophagus, Pancolitis, Incre... OMIM:618213
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Menorrhagia, Weight loss ORPHA:168816
Classic Homocystinuria
High palate, Subcutaneous hemorrhage, Anorexia, Intracranial hemorrhage, Pulmonary embolism, Cere... ORPHA:394
Kaposi Sarcoma
Weight loss, Diarrhea, Abnormality of the gastrointestinal tract, Skin rash ORPHA:33276
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Large vessel vasculitis, Prolonged bleeding time, Decreased circulating... OMIM:301000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Raynaud phenomenon, Hypertension, Retinal neovascularization, Pneumonia, Gastrointesti... ORPHA:247691
Osteootohepatoenteric Syndrome
Failure to thrive, Abdominal pain, Episodic vomiting, Ileoileal intussusception, Villous atrophy,... OMIM:619377
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo... ORPHA:906
Tyrosinemia, Type I
Melena, Paralytic ileus, Failure to thrive, Hepatic failure, Acute hepatic failure, Hepatocellula... OMIM:276700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Sudden cardiac death, Episodic vomiting, Hype... OMIM:201475
Reactive Arthritis
Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Inflammation of the large intestine, Arthritis,... ORPHA:29207
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator... OMIM:212750
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... ORPHA:424016
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Nephroblastoma
Hypertension, Neoplasm of the liver, Weight loss, Abdominal pain ORPHA:654
Scleroderma
Keratitis, Myocarditis, Uveitis, Transient ischemic attack, Pericarditis, Abnormal large intestin... ORPHA:801
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Eczema, Vomiting, Erythroderma... ORPHA:3260
Systemic Sclerosis
Myocarditis, Pericarditis, Abnormal large intestine morphology, Osteomyelitis, Right ventricular ... ORPHA:90291
Huntington Disease-Like 2
Weight loss ORPHA:98934
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Central Diabetes Insipidus
Failure to thrive, Anorexia, Diarrhea, Weight loss, Nausea and vomiting ORPHA:178029
Christianson Syndrome
Dysphagia, Cachexia, Gastroesophageal reflux, Feeding difficulties in infancy ORPHA:85278
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... ORPHA:542323
Castleman Disease
Increased circulating interleukin 6 concentration, Abdominal distention, Abdominal pain, Restrict... ORPHA:160
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Aganglionic megacolon, Cachexia ORPHA:52503
Reynolds Syndrome
Raynaud phenomenon, Steatorrhea, Palmar telangiectasia, Lip telangiectasia, Gastrointestinal hemo... OMIM:613471
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Chronic hepatic failure, Uveitis, Weight loss, ... ORPHA:171
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... ORPHA:275
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:145981
Riboflavin Transporter Deficiency
Dysphagia, Hypertension, Cachexia ORPHA:97229
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Cachexia, Decreased testicular size ORPHA:3242
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology ORPHA:884
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Pulmonary venous hypertension, Periodontitis, Pancreatitis, Enterocolitis, Bru... ORPHA:79259
Autoimmune Lymphoproliferative Syndrome
Gastritis, Uveitis, Neoplasm of the tongue, Increased circulating antibody level, Colitis, Abnorm... ORPHA:3261
Glossopharyngeal Neuralgia
Odynophagia, Feeding difficulties, Syncope, Malnutrition, Bradycardia, Jaw claudication, Weight l... ORPHA:221098
Acute Myelomonocytic Leukemia
Abnormal bleeding, Weight loss ORPHA:517
Fatal Familial Insomnia
Dysphagia, Weight loss, Constipation OMIM:600072
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Osteomyelitis, Pustule, Hypovolemic shock, Atopic dermatitis, Arrhythmia, Vomitin... ORPHA:171876
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss, Abnormality of the gastrointestinal tract, Atopic d... ORPHA:2902
Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:98293
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon ORPHA:1438
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Posi... ORPHA:94080
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... ORPHA:199299
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Diarrhea, Tachycardia, Hypotension, Syncope, Peptic ulcer, Nausea, Weight loss ORPHA:98849
Menkes Disease
Malabsorption, Osteomyelitis, Intracranial hemorrhage, Feeding difficulties in infancy, Spontaneo... ORPHA:565
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Arrhythmia, Feeding difficulties, Congestive heart failure ORPHA:157973
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Aspiration pneumonia ORPHA:216866
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intestinal atresia, Inflammation of the large intestine, Bronchiectasis, Dysphagia, Absent uvula,... OMIM:619708
Hypercalcemia, Infantile, 1
Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Vomiting, Weight loss OMIM:143880
Parathyroid Carcinoma
Abnormality of the parathyroid morphology, Constipation, Episodic abdominal pain, Pancreatitis, P... ORPHA:143
Hemorrhagic Fever-Renal Syndrome
Melena, Diarrhea, Vomiting, Pneumonia, Decreased body weight, Palpitations, Tachycardia, Shock, S... ORPHA:340
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Isaacs Syndrome
Weight loss ORPHA:84142
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Erythrokeratodermia Variabilis
Weight loss, Skin rash, Abnormal testis morphology ORPHA:317
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Sclerosing chola... OMIM:619652
Neuropathy, Congenital Hypomyelinating, 3
High palate, Cachexia, Gastroesophageal reflux OMIM:618186
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Vipoma
Increased circulating gonadotropin level, Neoplasm of the pancreas, Malabsorption, Neoplasm of th... ORPHA:97282
Multiple Endocrine Neoplasia Type 1
Melena, Pituitary growth hormone cell adenoma, Constipation, Intestinal carcinoid, Diarrhea, Vomi... ORPHA:652
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... ORPHA:2908
22Q11.2 Deletion Syndrome
Cholelithiasis, Constipation, Cleft palate, Acne, Anorectal anomaly, Gastrointestinal hemorrhage,... ORPHA:567
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Diarrhe... ORPHA:31205
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Feeding difficulties, Pancreatic cysts, Esophageal varix, Fat... ORPHA:731
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Abdominal pain, Anorexia, Abdominal rigidity, Vomiting, Nause... ORPHA:53035
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Osteomyelitis, Abnormal T-wave, Right ventricu... ORPHA:70591
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea, Myocarditis, ... ORPHA:99827
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Acute Promyelocytic Leukemia
Petechiae, Bruising susceptibility, Abdominal pain, Abnormal bleeding, Anorexia, Oral cavity blee... ORPHA:520
Plague
Lymphadenitis, Diarrhea, Vomiting, Acute infectious pneumonia, Glossitis, Inflammatory abnormalit... ORPHA:707
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Abdominal pain, Hepatic failure, Small for gestational age, Villous atrophy, Port... ORPHA:567983
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss, Pulmonary arterial hypertension ORPHA:1164
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Episodic a... ORPHA:276152
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Imerslund-Gräsbeck Syndrome
Failure to thrive, Constipation, Abnormal bleeding, Tachycardia, Vomiting, Glossitis, Angular che... ORPHA:35858
Postinfectious Vasculitis
Unusual gastrointestinal infection, Vasculitis in the skin, Increased inflammatory response, Pneu... ORPHA:48435
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Episodic abdominal pain, Abdominal distention, Anorexia, Right ventricular... ORPHA:100085
Bronchial Neuroendocrine Tumor
Bowel urgency, Elevated circulating growth hormone concentration, Tricuspid regurgitation, Hepati... ORPHA:97287
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Nausea and vomiting ORPHA:1842
Leishmaniasis
Increased circulating antibody level, Abnormal bleeding, Anorexia, Weight loss, Rhinitis ORPHA:507
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Glossitis, Pneumonia, Weight loss,... ORPHA:2552
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Bloody diarrhea, Hematemesis, Feeding difficulties, Skin ra... OMIM:615846
Rett Syndrome
Constipation, Abnormal T-wave, Gastroesophageal reflux, Cachexia, Prolonged QTc interval OMIM:312750
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Abdominal distention, Feeding difficulties, Hepatic ... ORPHA:275761
Glucose-Galactose Malabsorption
Failure to thrive, Abdominal distention, Diarrhea, Vomiting, Malnutrition, Weight loss, Hyperacti... ORPHA:35710
Mulibrey Nanism
Cachexia ORPHA:2576
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Weight loss, Goiter, Congestive heart failure OMIM:275000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Diarrhea, Failure to thrive in infancy, Decreased circulating antibody level, ... ORPHA:247598
X-Linked Lymphoproliferative Disease
Decreased liver function, Decreased circulating IgA level, Colitis, Decreased circulating IgG lev... ORPHA:2442
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Klatskin Tumor
Cholangiocarcinoma, Weight loss, Abdominal pain ORPHA:99978
Huntington Disease-Like 2
Weight loss OMIM:606438
Gallbladder Neuroendocrine Tumor
Abdominal distention, Episodic abdominal pain, Anorexia, Cholecystitis, Nausea, Biliary tract neo... ORPHA:100086
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Abdominal pain, Hepatocellular carcinoma, Arrhythmia, Art... ORPHA:465508
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Gout, Cholecystitis, Myocardial infarction, Peptic ulcer, Obesity, ... ORPHA:90041
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Rift Valley Fever
Melena, Hematemesis, Skin rash, Abnormal bleeding, Anorexia, Increased circulating IgG level, Ret... ORPHA:319251
Fructose Intolerance, Hereditary
Failure to thrive, Abdominal pain, Vomiting, Nausea, Malnutrition, Gastrointestinal hemorrhage OMIM:229600
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Decreased circulating antibody level, Protein-losing enteropathy, Cryptorchidism, S... OMIM:618183
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss, Poor appetite ORPHA:312
Brucellosis
Vomiting, Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Transient ischemic attack, P... ORPHA:1304
Focal Myositis
Weight loss, Myositis ORPHA:48918
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Intracranial hemorrhage, Chronic otitis media, Weight loss, Nausea and v... ORPHA:3226
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:600740
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Cleft palate, Hepatic failure, Necrotizing enterocolitis, Fee... OMIM:619573
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin... OMIM:181000
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Constipation, Episodic abdominal pain, Pancreatitis, P... ORPHA:99880
Systemic Capillary Leak Syndrome
Pancreatitis, Abdominal pain, Diarrhea, Arrhythmia, Myocarditis, Hypotension, Weight loss, Perica... ORPHA:188
Acute Liver Failure
Bruising susceptibility, Skin rash, Abnormal bleeding, Intracranial hemorrhage, Diarrhea, Vomitin... ORPHA:90062
Giant Cell Arteritis
Abdominal pain, Hepatic failure, Anorexia, Sudden cardiac death, Arrhythmia, Vasculitis, Cerebral... ORPHA:397
Familial Glucocorticoid Deficiency
Failure to thrive, Constipation, Episodic abdominal pain, Cryptorchidism, Anorexia, Leydig cell n... ORPHA:361
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Conjunctivitis, Duodenal ulcer OMIM:217090
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Palpitations, Tachycardia, Goiter OMIM:188580
Glycogen Storage Disease Ib
Pancreatitis, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, Inflammation of the large inte... OMIM:232220
Wilson Disease
Failure to thrive, Bruising susceptibility, Acute hepatic failure, Arthritis, Hepatitis, Weight l... ORPHA:905
Moynahan Syndrome
Cachexia ORPHA:2574
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hematemesis, Abdominal pain, Hepatic failure, Abnormal ... ORPHA:480520
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bruising susceptibility, Arterial rupture, Recurrent pneumonia, Gastrointestinal hemorrhage, Cong... OMIM:225400
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Vomiting, Pancreatic calcif... ORPHA:103918
Classic Hodgkin Lymphoma
Anorexia, Weight loss, Poor appetite, Skin rash ORPHA:391
Gm1 Gangliosidosis
Failure to thrive, Gastroesophageal reflux, Macroglossia, Feeding difficulties, Aspiration pneumo... ORPHA:354
Overlap Myositis
Systemic lupus erythematosus, Subluxation of the small joints of the hand, Abnormal circulating l... ORPHA:206572
Yellow Fever
Supraventricular arrhythmia, Increased circulating interleukin 6 concentration, Hematemesis, Abdo... ORPHA:99829
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Weight loss, Tachycardia, Goiter OMIM:613239
Holocarboxylase Synthetase Deficiency
Anorexia, Eczema, Keratoconjunctivitis, Perioral eczema, Weight loss, Nausea and vomiting ORPHA:79242
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Abnormal large intestine morphology, Narrow palate, Subcutaneous hemorrhage, Cac... ORPHA:109
Congenital Dyserythropoietic Anemia Type Iii
Melena, Gingival bleeding, Oral cavity bleeding, Post-partum hemorrhage ORPHA:98870
Idiopathic Bronchiectasis
Bronchiectasis, Myocardial infarction, Cachexia, Acute infectious pneumonia ORPHA:60033
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Gastric ulcer OMIM:604928
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Feeding difficulties in infancy, Abnormal atrioventricular co... ORPHA:3208
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Posi... ORPHA:276621
Perry Syndrome
Weight loss, Hypotension ORPHA:178509
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Constipation, Failure to thrive in infancy, Feeding difficulties OMIM:616801
Juvenile Huntington Disease
Weight loss ORPHA:248111
Eosinophilic Fasciitis
Weight loss, Fasciitis, Myositis, Arthritis ORPHA:3165
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Telangiectasia of the skin, Congestive heart fai... ORPHA:2346
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Weight loss, Constipation ORPHA:2126
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Weight loss, Diarrhea ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Hepatitis, Tubu... ORPHA:139402
Silver-Russell Syndrome
Constipation, Gastroesophageal reflux, Feeding difficulties, Cachexia, Decreased testicular size,... ORPHA:813
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Melena, Pituitary adenoma, Constipation, Hepatoblastoma, Abdominal... ORPHA:99818
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Diarrhea, Abdominal pain, Abnormal testis morphology ORPHA:54251
Hepatocellular Carcinoma
Budd-Chiari syndrome, Abdominal distention, Abdominal pain, Anorexia, Diarrhea, Abnormal rectum m... ORPHA:88673
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Bullous Pemphigoid
Eczema, Weight loss, Psoriasiform dermatitis ORPHA:703
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Felty Syndrome
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Weight loss, Recurrent pneumonia, Peric... ORPHA:47612
Hardikar Syndrome
Decreased liver function, Failure to thrive, Hematemesis, Feeding difficulties, Hepatic failure, ... OMIM:301068
Pancreatoblastoma
Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Pancreatic calcification, Weight loss ORPHA:677
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, D... ORPHA:420741
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Goiter, Diarrhea, Thyroid hyperplasia, Weight loss ORPHA:424
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recu... OMIM:158310
Follicular Lymphoma
Weight loss ORPHA:545
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Cachexia, Diarrhea, Arrhythmia, Vomiting ORPHA:42
Addison Disease
Hypoparathyroidism, Failure to thrive, Constipation, Abdominal pain, Anorexia, Orthostatic hypote... ORPHA:85138
Frontometaphyseal Dysplasia 2
High palate, Gastroesophageal reflux, Cleft palate, Pulmonic stenosis, Bifid uvula, Pyloric steno... OMIM:617137
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Nephritis, Skin rash, Osteoarthritis, Inc... ORPHA:2298
Infantile Krabbe Disease
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Cachexia, Vomiting, Nasogastric... ORPHA:206436
Gamma-Heavy Chain Disease
Skin rash, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmunity, Autoimmun... ORPHA:100026
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Hematochezia ORPHA:79095
Mast Cell Sarcoma
Weight loss ORPHA:66661
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Abdominal pain, Diarrhea, Hypertension, Weight loss OMIM:256700
Nodular Non-Suppurative Panniculitis
Abdominal pain, Weight loss, Nausea and vomiting, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dysphagia, Dilated cardiomyopathy, Intestinal pseudo-obstruction, Weight lo... OMIM:607459
Q Fever
Increased circulating antibody level, Abnormal left ventricular function, Osteomyelitis, Anorexia... ORPHA:781
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Obesity, Epistaxis, Prolonged prothrombin time ORPHA:96168
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral regurgitation, Juvenile gastrointestinal polyposis, Hematochezia, Telangiectasia, Gastroin... OMIM:175050
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain ORPHA:538
Neurofibroma
Intestinal bleeding, Multiple intestinal neurofibromatosis, Enlargement of parotid gland, Recurre... ORPHA:252183
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Granulomatosis With Polyangiitis
Keratitis, Sinusitis, Retinal hemorrhage, Chronic otitis media, Episcleritis, Uveitis, Localized ... OMIM:608710
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... ORPHA:79078
Hereditary Late-Onset Parkinson Disease
Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Chronic constipation ORPHA:411602
Multiple Myeloma
Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ... ORPHA:29073
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Bannayan-Riley-Ruvalcaba syndrome
High palate, Supernumerary nipple, Intussusception, Hematochezia, Hashimoto thyroiditis, Hamartom... OMIM:153480
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Posi... ORPHA:29072
Igg4-Related Kidney Disease
Pancreatitis, Lymphadenitis, Chronic sinusitis, Pericarditis, Weight loss, Prostatitis, Increased... ORPHA:449395
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Antiphospholipid antibody positivity, Osteopenia, Rheumatoid arthritis, Autoimmune... ORPHA:227990
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Constipation, Severe failure to thrive, Feeding difficulties, Cachexia, Nasogastric tube feeding ... ORPHA:371364
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Gastric ulcer, Hypertension OMIM:208060
Hereditary Xanthinuria
Rheumatoid arthritis, Hyperxanthinemia, Gout, Arthropathy, Hypouricemia ORPHA:3467
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Skin rash, Raynaud phenomenon, Rheumatoid arthr... ORPHA:79128
20Q13.33 Microdeletion Syndrome
Small for gestational age, Failure to thrive in infancy, Hematochezia ORPHA:261311
Juvenile Amyotrophic Lateral Sclerosis
Dysphagia, Cachexia, Gastrostomy tube feeding in infancy ORPHA:300605
Primary Myelofibrosis
Petechiae, Abnormal bleeding, Anorexia, Cachexia, Purpura, Ecchymosis, Portal hypertension ORPHA:824
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abdominal distention, Episodic abdominal pain, Pancreatitis, Ovarian ne... ORPHA:370348
Huntington Disease-Like 1
Weight loss ORPHA:157941
8P23.1 Microdeletion Syndrome
High palate, Cryptorchidism, Obesity, Weight loss, Hypertrophic cardiomyopathy ORPHA:251071
Chronic Graft Versus Host Disease
Bronchiectasis, Gastroesophageal reflux, Abdominal pain, Anorexia, Xerostomia, Abnormal esophagus... ORPHA:99921
Alveolar Echinococcosis
Increased circulating antibody level, Decreased liver function, Budd-Chiari syndrome, Abdominal p... ORPHA:284
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Budd-Chiari syndrome, Constipation, Deep dermal perivascular inflammatory infil... ORPHA:49041
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Nausea and vomiting, Peptic ulcer, Episodic abdominal pain ORPHA:405
Familial Gestational Hyperthyroidism
Weight loss, Diarrhea, Thyroid hyperplasia, Goiter ORPHA:99819
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Antiphospholipid antibody positivity, Osteopenia, Rheumatoid arthritis, Autoimmune... ORPHA:227982
Pelizaeus-Merzbacher Disease
Cachexia, Bowel incontinence, Failure to thrive in infancy ORPHA:702
Chronic Beryllium Disease
Weight loss, Lymphocytic interstitial pneumonia ORPHA:133
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Duodenal ulcer, Cervicitis ORPHA:722
Aicardi-Goutieres Syndrome 9
Failure to thrive, Feeding difficulties, Chilblains, Acute pancreatitis, Weight loss, Increased b... OMIM:619487
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Intestinal bleeding, Oral leukoplakia OMIM:612199
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Increased circulatin... ORPHA:97289
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Feeding difficulties, Cachexia, Cryptorchidism ORPHA:217346