Not currently registered for phenotyping at IMPC

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

Gene Summary

ATP-binding cassette, sub-family C member 4
MRP4,  D630049P08Rik,  MOAT-B

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Abcc4 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 Abcc4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia ORPHA:52416
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Lymphadenopathy, Hepato... ORPHA:100025
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, C... OMIM:615767
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to th... OMIM:616050
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomeruloneph... OMIM:617006
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Colitis, Sterile ... OMIM:604416
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone exc... ORPHA:100083
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties ORPHA:79238
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Failure to thrive, Pancytopenia, H... OMIM:619858
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... ORPHA:42642
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Villous atrophy, Abno... ORPHA:95427
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta... OMIM:616098
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... ORPHA:911
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... OMIM:618969
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... OMIM:616100
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepat... OMIM:614602
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Inflammation of the large intestine, Diarrhea, Failure to thri... OMIM:618108
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Eosinophilia, Chronic diarrhe... OMIM:617638
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Hepatomegaly, Dysphagia ORPHA:50251
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy, Arthritis, ... ORPHA:69126
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 27A
Pneumonia, Diarrhea, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflamma... OMIM:209950
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Hepatomegaly, Anemia, Cachexia,... ORPHA:75233
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Weight loss, Nasogastric... ORPHA:141152
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum m... ORPHA:83469
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra... ORPHA:33355
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... ORPHA:93941
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,... OMIM:620045
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Villous atrophy, Malab... OMIM:209920
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Inflammator... ORPHA:39812
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, M... ORPHA:398063
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thrive, Villous atrophy OMIM:615863
Microangiopathic hemolytic anemia, Cholestasis, Anorexia, Abdominal pain, Intestinal perforation,... ORPHA:810
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Protracted diarrhea, Hypoac... ORPHA:100080
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutr... OMIM:613502
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Leukocytosis, Intestina... ORPHA:67
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Leukopenia, Esophageal stenosis OMIM:615190
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100082
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology, Anorexia ORPHA:2023
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... ORPHA:2137
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... ORPHA:98850
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Abnormality of the gast... ORPHA:33276
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Rhabdoid Tumor
Nausea and vomiting, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Inter... ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:324964
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep... ORPHA:391
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa... ORPHA:98813
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos... ORPHA:65682
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Inflammatory Pseudotumor Of The Liver
Vomiting, Biliary tract abnormality, Nausea, Neoplasm of the liver, Cirrhosis, Weight loss, Abdom... ORPHA:90003
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Wei... OMIM:619381
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Diarrhea, Hepatic failure, Vomiting, Failure to thr... OMIM:602579
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, De... ORPHA:79319
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de... OMIM:615895
Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain, Hypertension ORPHA:654
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:211600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... ORPHA:411696
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Malabsorption, ... ORPHA:47
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Diarrhea, Failure to thrive, Spl... OMIM:607765
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor a... ORPHA:2221
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepatomegaly, Right ventricular ... ORPHA:100075
Ileal Neuroendocrine Tumor
Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricu... ORPHA:100078
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... ORPHA:298
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, N... ORPHA:1332
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei... ORPHA:3226
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Splenomegaly, Skin rash, I... ORPHA:540
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndrome, Crohn's dis... OMIM:619705
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Cereb... ORPHA:3287
Sepsis In Premature Infants
Hypotension, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnor... ORPHA:90051
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, L... OMIM:614162
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Anaplastic Thyroid Carcinoma
Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia ORPHA:142
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, Abnor... ORPHA:54251
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,... ORPHA:416
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Weight loss, Lymp... ORPHA:507
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss... ORPHA:85450
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... ORPHA:77297
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Decreased proportion of class-switched memory B cells, U... OMIM:614878
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdo... ORPHA:1201
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in... ORPHA:3260
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Vil... OMIM:304790
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahe... ORPHA:99978
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly... ORPHA:33577
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted... ORPHA:97287
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Hypoplasia of the thymus... OMIM:619313
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt... ORPHA:90038
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Failure to thrive, Cholestasis, Pancytopenia, Splenomegaly, ... OMIM:614576
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Jaundice, Macroglossia, ... ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Feeding difficulties ORPHA:89844
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Castleman Disease
Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, ... ORPHA:160
Caroli Disease
Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Esophageal... ORPHA:53035
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Vomiting, Hypovolemic shock, Failure to... ORPHA:171876
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size... OMIM:617053
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatic failure, Acute hepatitis, Hepatic steatosis, Splenome... ORPHA:905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Small for gestational age, Lymphope... ORPHA:84064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Hyperoxaluria, Primary, Type I
Atrioventricular block, Nephrocalcinosis, Arterial occlusion, Hyperoxaluria, Renal insufficiency,... OMIM:259900
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia ORPHA:48104
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... ORPHA:98849
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal... ORPHA:186
Polycythemia Vera
Early satiety, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycy... ORPHA:729
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... ORPHA:139402
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Chol... OMIM:608104
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... ORPHA:330001
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss, Mediastinal lymphadenopathy, Abnormal proportion... ORPHA:133
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Diarrhea, Weight loss, Lymphadenopathy ORPHA:411703
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchiectasis ORPHA:1164
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Right ventricular failure, Anorexia, Palpitations, Chronic noninf... ORPHA:100085
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei... ORPHA:677
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Weight loss, Tubulointerstitial nephritis, Abdominal... ORPHA:183
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hy... ORPHA:824
Oculoskeletodental Syndrome
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Lacunar stroke, Hepatomegaly, Macroglos... OMIM:618440
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Attrv30M Amyloidosis
Atrioventricular block, Diarrhea, Cardiomyopathy, Arrhythmia, Constipation, Weight loss ORPHA:85447
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:620532
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Myosi... ORPHA:99867
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Epididymitis, ... OMIM:620376
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Hypotension, Malabsorption, Splenomegaly, Infecti... ORPHA:3452
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... ORPHA:275761
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media OMIM:619608
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Anorexia, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitt... ORPHA:100086
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile du... ORPHA:79302
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pus... ORPHA:31205
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... ORPHA:71272
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... OMIM:619573
Sweet Syndrome
Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n... ORPHA:3243
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Gracile Bone Dysplasia
Ankyloglossia, Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina... ORPHA:188
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in... OMIM:606367
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Leukocytosis, Pancolitis, Eosinophili... OMIM:618213
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cerebral vasculitis, Car... ORPHA:48435
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97283
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Chronic hepatic fail... ORPHA:465508
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fi... OMIM:232220
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... ORPHA:1666
Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormality of the gastroin... ORPHA:79327
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Diarrhea, Pituitary adenoma, Hepatitis, Failure to thrive, Nausea... ORPHA:199299
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Duodenal stenosis, Cryptorchidism, Abnormal spleen morpholog... ORPHA:2470
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... ORPHA:97280
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Leukopenia, Pancytopenia, Leukocytosis, Weight ... ORPHA:520
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy ORPHA:99868
Congenital Factor Xiii Deficiency
Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor... ORPHA:331
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis ORPHA:411593
Colonic Atresia
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Failure to thrive, Hypereosinophilia, Recurrent infecti... OMIM:256500
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Acanthocytosis, Hepatic steatosis, Abdominal distention, S... ORPHA:71
Polyarteritis Nodosa
Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Raynaud phenomenon, Abdom... ORPHA:767
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Chronic sinusitis, Pulmonary arterial... OMIM:620642
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Bo... ORPHA:90291
Q Fever
Pneumonia, Vasculitis, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Ch... ORPHA:781
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Anemia, Weight los... ORPHA:1842
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Abs... ORPHA:210122
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... ORPHA:793
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperbili... OMIM:229600
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol... ORPHA:30391
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... ORPHA:400
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... OMIM:617321
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... ORPHA:97289
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... ORPHA:440437
Celiac Disease, Susceptibility To, 1
Diarrhea, Abdominal distention, Eczematoid dermatitis, Vomiting, Failure to thrive, Recurrent aph... OMIM:212750
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Ulcerative colitis ORPHA:555905
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Genera... OMIM:181000
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Duodenal stenosis ORPHA:1759
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Hepatic ... ORPHA:567983
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, S... OMIM:235255
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Atrophic gastri... OMIM:615846
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensat... ORPHA:85443
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive,... OMIM:214950
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Hypereosinophilia, Leukocytosis, Abnormality of the gastrointestinal tract, We... ORPHA:2902
Behçet Disease
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A... ORPHA:117
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari... ORPHA:79259
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Abdominal pain, Col... OMIM:203300
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Asplenia, Hypo... OMIM:185070
Cocaine Intoxication
Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestina... ORPHA:90068
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastroin... ORPHA:544482
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Pulmonary venous hyper... ORPHA:79128
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gastroparesis, Megaduo... OMIM:611376
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... ORPHA:71493
Igg4-Related Aortitis
Hypereosinophilia, Intestinal obstruction, Increased inflammatory response, Weight loss, Abdomina... ORPHA:449400
Giant Cell Arteritis
Vasculitis, Hepatic failure, Epistaxis, Gastrointestinal infarctions, Cerebral ischemia, Arrhythm... ORPHA:397
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... OMIM:301000
Malt Lymphoma
Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Lymphadenopathy, Anemia, Abdom... ORPHA:52417
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Cachexia, Feeding difficulties, Congestive heart failure ORPHA:157973
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weight loss, T... ORPHA:79242
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... OMIM:243700
Alveolar Echinococcosis
Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... ORPHA:284
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop... ORPHA:51636
Juvenile Polyposis Syndrome
Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi... ORPHA:2929
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease OMIM:619632
Huntington Disease-Like 2
Weight loss ORPHA:98934
Erythrokeratodermia Variabilis
Weight loss, Skin rash, Abnormal testis morphology ORPHA:317
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H... ORPHA:1655
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... ORPHA:562639
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... ORPHA:2538
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Vascul... ORPHA:50918
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Acute hepatic failure, Malabsorption, Nausea and vom... ORPHA:537
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Failure to thrive, Extramedullary hematopoiesis, Cholestas... ORPHA:79303
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Feedi... OMIM:616395
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Acute hepatic failure, Nausea and vomiting... ORPHA:36426
Gm1 Gangliosidosis
Gastroesophageal reflux, Failure to thrive, Cardiomyopathy, Aspiration pneumonia, Congestive hear... ORPHA:354
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Keratitis, Failure to thrive, Aspiration pneumonia, Nasogastri... ORPHA:1018
Tropical Pancreatitis
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... ORPHA:103918
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Conjunctivitis, Esophagitis, Abnor... ORPHA:2908
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart failure, Chronic lymphatic l... ORPHA:91139
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr... ORPHA:85408
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Villous atrophy, Splenomegaly, Failure to thrive OMIM:608776
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Chronic pancreatitis,... OMIM:232240
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension,... OMIM:619487
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis, Feeding difficulties OMIM:618154
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia ORPHA:85278
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic ar... ORPHA:449280
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hepatic steatosis, Arrhythmia, Cachexia, Hepatomegaly ORPHA:42
Focal Myositis
Myositis, Weight loss ORPHA:48918
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Weight loss, Anemia, Abdominal pain, Hypertension OMIM:256700
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Increased circulating prolactin concentration, Nausea and vomiting, Weight loss, Elevated circula... ORPHA:97282
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Malnutrition, Syncope, Weight loss, Bradycardia, Jaw claudication, Ody... ORPHA:221098
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Dysphagia ORPHA:97229
Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Prostatitis, Arrhythmia, Weight loss, Inflammatory a... ORPHA:900
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Fat malabsorption, Acanthocytosis OMIM:200100
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Esophagitis, Hepatic steatosi... ORPHA:541423
Idiopathic Bronchiectasis
Myocardial infarction, Acute infectious pneumonia, Cachexia, Bronchiectasis ORPHA:60033
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Testicular teratoma, Leukocytosis, Myositis, Weight loss, Sudden cardiac death, Recurrent cutaneo... ORPHA:764
Protein-losing enteropathy, Failure to thrive ORPHA:95428
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Nasogastric tube feeding, Dysphagia, Feeding difficulties, Poor suck ORPHA:163961
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Isaacs Syndrome
Weight loss ORPHA:84142
Weight loss, Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea, H... ORPHA:635
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... ORPHA:436252
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ... ORPHA:3208
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Diarrhea, Otitis media, Recurrent sinusitis, Chronic sinusitis, T... ORPHA:420741
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... ORPHA:93672
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea ORPHA:3217
Hypercalcemia, Infantile, 1
Vomiting, Weight loss, Failure to thrive OMIM:143880
Interstitial pneumonitis, Weight loss, Acute infectious pneumonia, Abnormal neutrophil count, Chr... ORPHA:723
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology, Hyp... ORPHA:2290
Addison Disease
Normocytic anemia, Thymoma, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Thiami... ORPHA:85138
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:1133
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy,... ORPHA:29073
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma, Poor appetite ORPHA:312
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita... OMIM:131100
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Villous atrophy, Malabso... OMIM:557000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal lymphangiectasia... OMIM:235510
Beta-Ketothiolase Deficiency
Hypotension, Diarrhea, Vomiting, Thrombocytosis, Leukocytosis, Weight loss, Anorexia, Hepatomegal... ORPHA:134
Lynch Syndrome
Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Mala... ORPHA:144
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index ORPHA:399
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Diarrhea, Dilated cardiomyopathy, Anorexia, Leukopenia, Leukocytosis, Lipid accumula... ORPHA:20
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Failure to thrive, High palate, Necrotiz... OMIM:606812
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal p... ORPHA:143
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Failure to thrive, Villous atrophy, High palate OMIM:601110
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Multiple Endocrine Neoplasia Type 1
Diarrhea, Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell ade... ORPHA:652
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227990
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Cachexia, Anal atresia, Cleft palate ORPHA:3242
Proprotein Convertase 1/3 Deficiency
Diarrhea, Obesity, Villous atrophy, Malabsorption OMIM:600955
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Nausea and vomiting, Episodic abdominal pain, Weight loss, Pancreatitis, Abdominal dist... ORPHA:370348
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A... ORPHA:512
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Acrodermatitis Enteropathica
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... ORPHA:37
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Biliary atresia, Pulmonic s... OMIM:115470
Diffuse Alveolar Hemorrhage
Leukocytosis, Pulmonary venous hypertension, Weight loss, Thrombocytopenia, Anemia ORPHA:90060
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Dilated cardiomyopathy, Failure to thrive, Malnutrition, Pyoderma, Constipat... ORPHA:79404
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology ORPHA:2126
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... OMIM:608710
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculitis, Psoriasif... ORPHA:49041
Huntington Disease-Like 2
Weight loss OMIM:606438
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227982
Graves Disease
Congestive heart failure, Weight loss, Goiter OMIM:275000
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ileus, Constipation ORPHA:52503
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Hypertension, Weight loss, Lupus nephritis, Lymphaden... ORPHA:536
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss, Goiter OMIM:188580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Dilated cardiomyopathy, Anal fissure, Malnutrition, Ankyloglossia, Iron ... ORPHA:79408
Multiple Endocrine Neoplasia Type 4
Thymoma, Peptic ulcer, Diarrhea, Pituitary adenoma, Hyperparathyroidism, Pituitary prolactin cell... ORPHA:276152
Abdominal pain, Weight loss, Nausea and vomiting ORPHA:69078
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Vomiting, Diarrhea, Failure to thrive, Hypertrophic cardiomyo... ORPHA:361
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Renal Nutcracker Syndrome
Nausea, Syncope, Weight loss, Orthostatic hypotension, Anemia, Abdominal pain, Tachycardia ORPHA:71273
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties OMIM:616801
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Hepatic fibrosis, Hepatic failure, Intractable diarrhea, Failu... OMIM:222470
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encep... ORPHA:31204
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Moynahan Syndrome
Cachexia ORPHA:2574
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Palpitations, Abnormal gastrointestinal tract morpho... ORPHA:2847
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Pulmonary arterial hyp... ORPHA:2905
Juvenile Huntington Disease
Weight loss ORPHA:248111
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Narrow palate, High palate, Gastroesophageal reflux OMIM:618186
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Rett Syndrome
Gastroesophageal reflux, Abnormal T-wave, Cachexia, Constipation, Prolonged QTc interval OMIM:312750
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Small for gesta... ORPHA:1199
Mednik Syndrome
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep... ORPHA:99226
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,... ORPHA:95455
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc... ORPHA:2298
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro... OMIM:612562
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Constipation, W... ORPHA:95409
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Right-to-left shunt,... OMIM:265380
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... OMIM:619991
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Vomiting, Gastroesophageal reflux, Failure to thrive, Esophagitis, Megaloblastic anemia, Feeding ... ORPHA:79351
Serkal Syndrome
Malrotation of small bowel, Pulmonic stenosis ORPHA:139466
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss, Goiter OMIM:613239
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Thyroid hyperplasia, Goiter, Weight loss, Small for gestational age ORPHA:424
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Weight loss, Neutropenia, ... ORPHA:79430
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Pancytope... ORPHA:99921
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Villous atrophy, Hepatic... OMIM:212065
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Obesity, Crypto... ORPHA:813
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Abnormal erythrocyte morphology, Acanthocytosis, Decreased body weight, F... ORPHA:96180
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism, Pulmonic stenosis OMIM:601186
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Bronchiectasis ORPHA:79127
Tarp Syndrome
Hepatic failure, Meckel diverticulum, Subdural hemorrhage, Failure to thrive, High palate, Glosso... OMIM:311900
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... ORPHA:371364
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubuloin... ORPHA:797
Erdheim-Chester Disease
Congestive heart failure, Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Anemia, Abd... ORPHA:35687
Infantile Krabbe Disease
Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Abnormal heart rate variability, ... ORPHA:206436
Fryns Syndrome
Meckel diverticulum, Polysplenia, Intestinal malrotation, Large for gestational age, Cryptorchidi... OMIM:229850
Localized Scleroderma
Vasculitis, Gastroesophageal reflux, Fasciitis, Esophagitis, Hashimoto thyroiditis, Arrhythmia, R... ORPHA:90289
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Gl... ORPHA:2886
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Intracranial hemorrhage, Hashimoto thy... ORPHA:109
Meier-Gorlin Syndrome 7
Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodenal stenosis, B... OMIM:617063
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Pulmonic s... OMIM:617137
Huntington Disease-Like 1
Weight loss ORPHA:157941
Bardet-Biedl Syndrome