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Gene: Misp MGI:1926156

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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:
mitotic spindle positioning
Synonyms:
9130017N09Rik

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 Misp 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 Misp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec... ORPHA:209964
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Tenesmus, Pro... ORPHA:100082
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abnormal circul... ORPHA:103910
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Neuroendocrine Tumor Of The Colon
Melena, Hypotension, Right ventricular failure, Lack of bowel sounds, Protracted diarrhea, Hypoac... ORPHA:100080
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Hepatitis... ORPHA:319218
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Neuroendocrine Tumor Of Stomach
Hepatic failure, Hypotension, Right ventricular failure, Lack of bowel sounds, Cardiogenic shock,... ORPHA:100075
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Allergic rhinitis,... ORPHA:2070
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... ORPHA:464321
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level OMIM:617006
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin... OMIM:174900
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Decreased cir... OMIM:618969
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... ORPHA:326
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to thrive, Increased ci... OMIM:616050
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Increased circulating IgE level... OMIM:301000
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Elevated circulating C-reactive protein concentration, Colitis, Sterile arthritis, Cys... OMIM:604416
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine ORPHA:46488
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Oral cavity bleeding, Melena ORPHA:98870
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Nausea and vomiting, Erythema nodosum, Anorexia, ... ORPHA:99827
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Decreased body weight, Acute tubulointerstitial nephritis, Glomerulonephritis, Tubuloin... ORPHA:340
Tyrosinemia, Type I
Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorrhage, Hepatic failur... OMIM:276700
Rift Valley Fever
Gingival bleeding, Melena, Abnormal bleeding, Hepatitis, Skin rash, Infectious encephalitis, Hema... ORPHA:319251
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Inflammation of the large intestine, Hepatic failure, Delayed onset... ORPHA:331
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Vasculitis, Blepharitis, Failure to thrive, Re... OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Decreased circulating antibody level, Recurrent sinusitis, Increased circulating ferriti... OMIM:613101
Turcot Syndrome With Polyposis
Hematochezia, Melena, Diarrhea, Pituitary adenoma, Vomiting, Adenomatous colonic polyposis, Intes... ORPHA:99818
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neova... OMIM:158310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... ORPHA:329971
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci... ORPHA:157794
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hyper... ORPHA:251992
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Multiple Endocrine Neoplasia Type 1
Diarrhea, Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell ade... ORPHA:652
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Caroli Syndrome
Hepatic failure, Abnormal bleeding, Portal hypertension, Abdominal rigidity, Hematemesis, Cholang... ORPHA:480520
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Increased circulating interle... OMIM:301074
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Intest... ORPHA:67
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili... ORPHA:411696
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai... ORPHA:79319
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Giant cell hepatitis, Failure to thrive, Prolonged prothrombin tim... OMIM:214950
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Failure... OMIM:615895
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Bruising susceptibility, Decreased liver function, Increased circulating interfe... ORPHA:540
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Gastrointest... OMIM:600376
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... OMIM:618131
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:324964
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Hepatitis, Prolonged prothrombin time... OMIM:613812
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... OMIM:301220
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Zollinger-Ellison Syndrome
Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Peptic ulcer, ... ORPHA:913
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... ORPHA:99828
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Increased circulating ferritin ... OMIM:619802
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Failure to thrive, Nausea, Constipa... ORPHA:35122
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Viral hepati... ORPHA:2137
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... ORPHA:44890
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Failure to thrive ORPHA:79301
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small ... ORPHA:2929
Shigellosis
Anorexia, Abdominal pain, Purpura, Intestinal perforation, Bloody mucoid diarrhea, Failure to thr... ORPHA:810
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre... ORPHA:2869
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage OMIM:602248
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary, Nausea and vomiting, Intestinal obstructio... ORPHA:543
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ... OMIM:618999
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Desmoid Tumor
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... ORPHA:873
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Pustular rash, Recurrent otitis m... OMIM:619381
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Recurrent infecti... ORPHA:911
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Cholelithiasis, Giant cell hepatitis, Elevated circulating creatine kinase concentr... ORPHA:79095
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Arrhythmia, Purpura, Chronic otitis media... ORPHA:906
Sepsis In Premature Infants
Hypotension, Diarrhea, Vomiting, Abnormal bleeding, Decreased liver function, Increased circulati... ORPHA:90051
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Gastrointestinal infarctions, Skin rash, Prolonged bleeding time ORPHA:1059
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Intestinal obstruction, Weight loss, Oligozoospermia, Dyspepsia, Abdominal pain, Tubulo... ORPHA:85450
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... OMIM:201475
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Cryptorchidism, De... OMIM:618183
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Infectious encephalitis, Abdominal p... ORPHA:99745
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Petechiae, Pancolitis, Esophageal stricture OMIM:620133
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Myocardial infarction, Peritonitis, Pancrea... ORPHA:90038
Cocaine Intoxication
Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Intestina... ORPHA:90068
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Maculopapular... OMIM:142680
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Pneumonia, Hepatitis, Atopic dermatitis, ... OMIM:615846
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal bleeding, Failure to thrive, Decreased specific ant... OMIM:614576
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Pancolitis, Eosinophilic... OMIM:618213
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Sweet Syndrome
Inflammation of the large intestine, Dilated cardiomyopathy, Abnormal circulating interleukin con... ORPHA:3243
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:131100
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Perianal abscess, Enterocolitis, Sinusitis, Abdominal p... ORPHA:2686
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Uveitis, Congestive heart failure, ... ORPHA:727
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Esophageal varix OMIM:617341
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Malabsorption, Psoriasiform derma... ORPHA:793
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Failure to thrive OMIM:615947
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Hypertensive crisis, Pneumonia, Diarrhea, Vomiting,... ORPHA:544482
Monosomy 13Q34
Hematochezia, Epistaxis, Obesity, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensatory ... ORPHA:85443
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer ORPHA:2069
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Gastric var... ORPHA:64743
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Wolfram Syndrome 2
Peptic ulcer, Decreased circulating antibody level, Abnormal bleeding OMIM:604928
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Weight loss, Glomerulonephritis, Decreased ci... ORPHA:99867
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... ORPHA:440437
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
20Q13.33 Microdeletion Syndrome
Failure to thrive in infancy, Hematochezia, Small for gestational age ORPHA:261311
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... ORPHA:93672
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Intestinal obstruction, Celiac disease, Gastrointestinal eosinophilia, Right... ORPHA:90363
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Failure to thrive... OMIM:620376
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Feeding difficulties in infancy, Erythroderma, Abdominal di... ORPHA:3260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Epistaxis, Inflammation of the large intestine, Diarrhea, Abnormal bleeding, Failure... ORPHA:79259
Primary Sclerosing Cholangitis
Acute hepatic failure, Weight loss, Polyclonal elevation of IgM, Abdominal pain, Celiac disease, ... ORPHA:171
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Malabsorption, Port... ORPHA:98850
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Nephritis, Vira... ORPHA:91139
Syndromic Diarrhea
Aortic regurgitation, Intractable diarrhea, Bloody diarrhea, Panhypogammaglobulinemia, Villous at... ORPHA:84064
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Petechiae, Keratoconjuncti... ORPHA:91138
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Acholic stools, Abdominal ... ORPHA:1414
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Gaisböck Syndrome
Peptic ulcer, Elevated diastolic blood pressure, Obesity, Increased circulating renin level, Gout... ORPHA:90041
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Failure to thrive, Recurrent otitis media, Chronic constipatio... OMIM:619575
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Intracranial... ORPHA:324636
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Lack of bowel sounds, Increased circula... ORPHA:97283
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Uveitis, Malabsorption, Infectious encephalit... ORPHA:3452
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Erythroderma, Abdomin... ORPHA:79456
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97280
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S... ORPHA:2796
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Duodenal ulcer OMIM:217090
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, P... ORPHA:90308
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Dilated cardiomyopathy, Third deg... OMIM:619573
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,... ORPHA:809
Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Arrhythmia, Weight loss, Prostatitis, Inflammatory a... ORPHA:900
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:145981
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Malar rash, Petechiae, Increased circulating ... OMIM:603909
Polycythemia Vera
Gingival bleeding, Early satiety, Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Bru... ORPHA:729
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ... ORPHA:276152
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Hypotension, Nausea, Weight loss, Syncope, Abdominal pain, Tachycardia ORPHA:98849
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal p... ORPHA:143
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Nausea and vomiting, Gastrointestinal st... ORPHA:139411
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, P... ORPHA:36426
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Weight lo... ORPHA:537
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon... OMIM:192315
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... ORPHA:144
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h... OMIM:177850
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai... ORPHA:363705
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Monoclonal immun... ORPHA:33226
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... ORPHA:99880
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Pancreatic fibrosis... OMIM:232220
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Gout, Chronic pancreatitis, Hypertension,... OMIM:232240
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, N... ORPHA:761
Fumarase Deficiency
Hepatic failure, Failure to thrive, Mitochondrial swelling, High palate, Necrotizing enterocolitis OMIM:606812
Pseudoxanthoma Elasticum
Acne, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Skin rash... ORPHA:758
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Pulmonary arterial hypertens... ORPHA:974
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Increased circulating antibody lev... OMIM:181000
Behçet Disease
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A... ORPHA:117
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:600740
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Duodenal ulcer, Cervicitis ORPHA:722
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Skin ra... ORPHA:247691
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr... ORPHA:394
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons... ORPHA:3463
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, Esophageal varix, Gastrointe... ORPHA:774
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Pulmonic s... OMIM:617137
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Abnormal bleeding, Shock, Reduced left ventricular ej... ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorrhag... ORPHA:247598
Menke-Hennekam Syndrome 2
Duodenal ulcer, Chronic constipation OMIM:618333
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Gastrointestinal hemorrhage, Cryptorchidism, Esophageal stricture OMIM:613990
Familial Hypocalciuric Hypercalcemia
Episodic abdominal pain, Peptic ulcer, Pancreatitis, Nausea and vomiting ORPHA:405
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Pancreatic cysts, Hypertension, Esophageal varix OMIM:263200
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Raynaud phenomenon, Eryth... OMIM:613471
22Q11.2 Deletion Syndrome
Cryptorchidism, Feeding difficulties in infancy, Hypoparathyroidism, Anal atresia, Purpura, Bowel... ORPHA:567
Bardet-Biedl Syndrome
Inflammation of the large intestine, Cardiomyopathy, Decreased testicular size, Obesity, Cryptorc... ORPHA:110
Williams Syndrome
Nausea and vomiting, Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Abdominal pain, Re... ORPHA:904
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Recurrent pneumonia, Feeding difficultie... ORPHA:731
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Gastric ulcer OMIM:208060
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Failure to th... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Failure to th... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Failure to th... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Abnormality of the ovary, Failure to th... ORPHA:99226
Hardikar Syndrome
Hepatic failure, Vomiting, Failure to thrive, Decreased liver function, Intestinal malrotation, F... OMIM:301068
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Bruising suscept... ORPHA:90062
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Failure to thrive, Malnutrition, Nausea, Abdominal pain OMIM:229600
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Osteomyelitis, Malabsorption, Nausea and vomi... ORPHA:565
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Recurrent pneumonia, Bruising susceptibility, Congestive heart failu... OMIM:225400
Mowat-Wilson Syndrome
Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent ... ORPHA:2152
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Lymphangioleiomyomatosis
Abdominal pain, Gastrointestinal hemorrhage ORPHA:538
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Exocrine pancr... ORPHA:508488
Coffin-Siris Syndrome 1
Intestinal malrotation, Cryptorchidism, Feeding difficulties in infancy, High palate, Duodenal ul... OMIM:135900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Misp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Misp.

No publications found that use IMPC mice or data for Misp.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Misptm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Misptm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Misptm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Misptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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