Gene Summary

Name:
mitogen-activated protein kinase kinase kinase 8
Synonyms:
c-COT,  Tpl2,  Tpl-2,  Cot/Tpl2,  Cot

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Map3k8tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

51 Images

Human diseases caused by Map3k8 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.

The table below shows human diseases associated to Map3k8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980

The table below shows human diseases predicted to be associated to Map3k8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100082
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease OMIM:613148
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... ORPHA:2070
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreased circulat... OMIM:300400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Myeloma, Multiple
Paraproteinemia OMIM:254500
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Di... ORPHA:79076
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Kimura Disease
Increased circulating IgE level ORPHA:482
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... OMIM:619281
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption, Failure to thrive OMIM:214950
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... OMIM:613101
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive OMIM:615863
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhe... OMIM:613812
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu... OMIM:615707
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... ORPHA:100075
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Vipoma
Neoplasm of the pancreas, Nausea and vomiting, Follicular thyroid carcinoma, Anorexia, Malabsorpt... ORPHA:97282
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... ORPHA:98813
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... OMIM:121300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... OMIM:618969
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Internal hemorrhage, Prol... ORPHA:906
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... OMIM:617718
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... OMIM:615895
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... OMIM:308240
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections OMIM:608971
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Hematological neoplasm, Hemateme... ORPHA:73263
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function ORPHA:277
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Incr... OMIM:300291
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Brunner Syndrome
Diarrhea OMIM:300615
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... ORPHA:2930
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Monosomy 13Q34
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Hematological neoplasm, Gastrointes... ORPHA:99147
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... OMIM:618183
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Immunodeficiency 48
Diarrhea, Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... ORPHA:853
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia ORPHA:79095
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
20Q13.33 Microdeletion Syndrome
Hematochezia, Small for gestational age, Failure to thrive in infancy ORPHA:261311
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Reticular Dysgenesis
Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Failure to thrive ORPHA:33355
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease... ORPHA:540
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, Inflammation of the ... OMIM:618108
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... ORPHA:424019
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hematochezia, Hypertensio... OMIM:615846
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm ... ORPHA:2221
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... ORPHA:44890
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Malabsorption ORPHA:83620
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
Immunodeficiency 76
Chronic diarrhea, Colitis, B-cell lymphoma OMIM:619164
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Lynch Syndrome
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... ORPHA:144
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM OMIM:243700
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level OMIM:618048
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Failur... OMIM:619575
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Diarrhea, Absent isohemagglutinin level OMIM:613501
Igg4-Related Aortitis
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... ORPHA:449400
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... OMIM:603041
Attrv30M Amyloidosis
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Neoplasm by anatomical s... ORPHA:33276
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Gingival fibromatosis OMIM:228600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption ORPHA:79301
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level OMIM:619846
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Obesity, Villous atrophy OMIM:600955
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Weight loss, Neoplasm of the lung, Pheochromocytoma, D... ORPHA:1332
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Carcinoid Syndrome
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... ORPHA:100093
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Neoplas... ORPHA:543
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... OMIM:155310
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Hematological neoplasm, Malabsorption, Portal hypertension... ORPHA:98850
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Caffey Disease
Increased circulating antibody level ORPHA:1310
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent i... OMIM:601457
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit... ORPHA:927
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... ORPHA:449285
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... ORPHA:99745
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... ORPHA:99828
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Autosomal Agammaglobulinemia
Malabsorption, Diarrhea, Agammaglobulinemia, High palate, Failure to thrive, Verrucae ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enterop... OMIM:602579
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, P... ORPHA:589821
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Decreased ci... OMIM:226300
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... ORPHA:343
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Lymphoproliferative disorder, Epistaxis, Increased circulating IgA level... OMIM:301000
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secretory diarrhea... OMIM:616050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Lymphoma, Lymphocytic infiltration of the colorectal mucosa, Decrea... ORPHA:436159
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... ORPHA:97278
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Decreased circul... OMIM:616100
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Tachycardia, Poor appetite, Heart block, Diarr... ORPHA:542323
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, M... ORPHA:100924
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Hematological neoplasm... ORPHA:3243
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Congestive heart failure, Diarrhea, Gastrointestinal dysm... ORPHA:67
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Isolated Agammaglobulinemia
Diarrhea, Failure to thrive, Malabsorption ORPHA:229717
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Immunodeficiency 19
Failure to thrive, Chronic diarrhea OMIM:615617
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties, Bloody diarrhea OMIM:615119
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Immunodeficiency 46
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level OMIM:616740
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Congestive heart fail... ORPHA:3386
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... OMIM:131100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Increased circulating IgM level, Failur... OMIM:242860
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, D... ORPHA:85450
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... OMIM:176000
Hemorrhagic Fever-Renal Syndrome
Shock, Increased circulating interleukin 6 concentration, Tachycardia, Epistaxis, Abdominal pain,... ORPHA:340
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea OMIM:235555
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Refractory Celiac Disease
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Lymphoma, Malnutrition, Weight ... ORPHA:398063
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... ORPHA:97283
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Abdominal pain OMIM:620137
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Patent ductus arteriosus, Diarrhea, Vomiting, Protein-losing enteropathy, D... OMIM:608104
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... ORPHA:100085
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Glutaric Aciduria Iii
Hypertension, Diarrhea, Failure to thrive, Vomiting OMIM:231690
Immunodeficiency 69
Diarrhea, Failure to thrive OMIM:618963
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Failure to thrive, Fat malabsorption, Epistaxis OMIM:211600
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... ORPHA:90363
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... ORPHA:79456
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Methanol Poisoning
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Diarrhea, Permanent atrial fibrillati... ORPHA:31825
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Myelodysplasia, Abdominal pain, Diarrhea, Acute lymphoblastic leukemia, R... ORPHA:486
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... ORPHA:100078
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Decreased circulating antibody level, Gastroesophageal r... ORPHA:90045
Celiac Disease, Susceptibility To, 1
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Weight loss, Prolonged ... OMIM:212750
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Abdomi... ORPHA:98849
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive OMIM:264350
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... ORPHA:79327
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... ORPHA:33226
Mitchell-Riley Syndrome