Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)
Synonyms:
Core-3,  Core3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by B3gnt6 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 B3gnt6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Solitary Rectal Ulcer Syndrome
Bloody diarrhea, Rectal prolapse, Bloody mucoid diarrhea, Tenesmus, Stercoral ulcer, Anemia, Inte... ORPHA:209964
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Lymphoprolif... ORPHA:263665
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Anemia, Mal... ORPHA:2070
Lactose Intolerance, Adult Type
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... OMIM:223100
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Weight loss, Abdominal distention, Diarrh... ORPHA:160148
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Anemia, Int... OMIM:174900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Glos... OMIM:175500
Immunodeficiency 76
B lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma, Recurrent pneumonia,... OMIM:619164
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... ORPHA:100082
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenomegaly, Autoimm... OMIM:614470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Splenomegaly, Increased... OMIM:618495
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Eosinophilia, My... ORPHA:486
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... OMIM:618969
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... OMIM:615767
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Hemangioma, Refrac... ORPHA:79076
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media OMIM:615617
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Petechiae, Chronic otitis me... ORPHA:906
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Neur... ORPHA:913
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Lymphoma, Acute myeloid leukemia OMIM:616871
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, I... OMIM:243150
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp... OMIM:618108
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis, Decreased proportion of c... OMIM:616098
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Splenomegaly OMIM:615947
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention OMIM:616868
Adult Idiopathic Neutropenia
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... ORPHA:2688
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Abnormal large intestine morpholog... ORPHA:2198
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... ORPHA:70475
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Gastrointestinal Stromal Tumor
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal str... ORPHA:44890
Zygomycosis
Brain abscess, Myocarditis, Colon perforation, Sinusitis, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Reticular Dysgenesis
Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody ... ORPHA:33355
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Gingival bleeding, Epistaxis, Cardiomyopathy, Prolonged blee... OMIM:203300
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Juvenile Polyposis Syndrome
Brain abscess, Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplas... ORPHA:2929
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Failure to thrive, Recurrent otitis media, Diarrhea OMIM:613501
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Diar... OMIM:269840
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Bloody diarrhea, Intracranial hemorrhage, Morph... ORPHA:464321
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Feeding difficulties in infancy, Vomiting, Failure to thrive, Diar... OMIM:606528
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphoproliferative dis... ORPHA:911
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased circulating IgG ... OMIM:600351
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Abnormal serum inter... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia,... OMIM:613101
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Abdominal pain, Gastric adenocarcinoma, Melena OMIM:619182
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Anemia, Splenomegaly, Reduce... OMIM:616050
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Sweet Syndrome
Dilated cardiomyopathy, Inflammation of the large intestine, Acne inversa, Abnormal serum interle... ORPHA:3243
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Weight loss, Intestinal obstruction, Crohn's... OMIM:266600
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau... ORPHA:100075
Ménétrier Disease
Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomi... ORPHA:2494
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Failure... OMIM:601495
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Pulmonary hemorrhage, Intermittent diarrhea, Neutrophilia, Hepato... OMIM:619644
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Ileal ulcer, Skin rash, Thrombocytopenia, Hemolytic anemia OMIM:616744
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Colitis, Failure to thrive, ... OMIM:608809
Immunodeficiency 31C
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... OMIM:614162
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Villous atrophy, Infectious encephalitis, Protracte... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Splenomegaly, Otitis medi... OMIM:608971
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Maculopapu... ORPHA:98850
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Leukopenia, Hepatitis, Melena, Gastrointestinal hemorrhage, Increase... ORPHA:319218
Autosomal Agammaglobulinemia
Sinusitis, High palate, Neutropenia, Agammaglobulinemia, Bronchiectasis, Failure to thrive, Verru... ORPHA:33110
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Diarrhea OMIM:614102
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel urgency, Atypi... ORPHA:100080
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Tube feeding, Villous atrophy, Eczema, Vomiting, Erythroderma, Decr... OMIM:619510
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Prolonged bleeding following circumcision, Bruising suscepti... ORPHA:331
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Verrucae, Chronic... ORPHA:217390
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal lymphocy... ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti... OMIM:601457
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Neoplasm, Furrowed tongue... ORPHA:2930
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia... ORPHA:540
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... ORPHA:2869
Immunodeficiency 55
Eczema, Myelodysplasia, Neutropenia, Recurrent skin infections, Diarrhea OMIM:617827
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... ORPHA:99867
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... ORPHA:103907
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Pyoderma Gangrenosum
Inflammation of the large intestine, Myelodysplasia, Pustule, Myositis, Increased circulating ant... ORPHA:48104
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Neutropenia, Leukopenia, Failure to thrive, Malabsorption, Throm... OMIM:229050
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ganglioneuroma
Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Functional intestinal obstruct... ORPHA:251992
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... OMIM:301000
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea OMIM:613217
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Desmoid Tumor
Neoplasm of the skin, Desmoid tumors, Malabsorption, Fibroma, Gastrointestinal hemorrhage, Intest... ORPHA:873
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Bloody diarrhea, Constrictive pericarditis, Lung abscess, Gastrointestinal dysmotil... ORPHA:67
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Nausea and vomiting, Intestinal obstruction,... ORPHA:543
Bannayan-Riley-Ruvalcaba syndrome
High palate, Meningioma, Hemangioma, Intussusception, Lipoma, Hashimoto thyroiditis, Supernumerar... OMIM:153480
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intestinal carcinoid, Palpitat... ORPHA:100076
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy OMIM:615863
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Cowden Syndrome 1
High palate, Meningioma, Transitional cell carcinoma of the bladder, Goiter, Carcinoma, Decreased... OMIM:158350
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Fail... ORPHA:277
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failure to thr... ORPHA:47
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level, Secretory diarrhea, Cryptorchidism, Protein-losing enteropa... OMIM:618183
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Intestinal obstruction, Gas... ORPHA:97286
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Cryptorchidism, Recurrent skin infections, Monocytosis OMIM:610680
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Mitral regurg... OMIM:612541
Immunodeficiency, Common Variable, 2
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent otiti... OMIM:240500
Coproporphyria, Hereditary
Hypertension, Vomiting, Increased fecal coproporphyrin 3, Tachycardia, Splenomegaly, Diarrhea, Ab... OMIM:121300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Lymphoproliferative disorder, Failure to thrive... ORPHA:276
Immunodeficiency 58
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... OMIM:618131
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Eczema, Neutropenia in presence of anti-neutropil antibodies, Hepa... ORPHA:391487
Shigellosis
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Leukocytosis, Bloody mucoid diarr... ORPHA:810
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia, Diarrh... ORPHA:98849
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Rabies
Sudden cardiac death, Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Carney Triad
Adrenocortical adenoma, Hypertension, Nausea and vomiting, Gastrointestinal stroma tumor, Anorexi... ORPHA:139411
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Neurofibromas OMIM:606764
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, T lymphocytopenia, Failure to thrive, Decreas... OMIM:242860
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia,... OMIM:209950
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea OMIM:614602
Angioma, Hereditary Neurocutaneous
Hemangioma, Gastrointestinal hemorrhage OMIM:106070
Common Variable Immunodeficiency
Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Chronic o... ORPHA:1572
Kaposi Sarcoma
Neoplasm of the skin, Abnormality of the spleen, Lymphoproliferative disorder, Hemangioma, Weight... ORPHA:33276
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... OMIM:175050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in ... ORPHA:37042
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Cholesteatoma, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased cir... OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Failure ... ORPHA:169160
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Abdominal distenti... OMIM:619445
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Hematochezia ORPHA:79095
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Colitis, Esophageal stenosis, Leukopenia OMIM:615190
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Decreased circulati... ORPHA:572
Sepsis In Premature Infants
Neutropenia, Petechiae, Functional abnormality of the gastrointestinal tract, Abdominal distentio... ORPHA:90051
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Skin r... OMIM:618963
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Normocytic a... ORPHA:398063
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Immunodeficiency 21
Abnormal natural killer cell morphology, Myelodysplasia, Neutropenia, Lymphopenia, Myeloid leukem... OMIM:614172
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... OMIM:607594
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Abnormal intestine morphology, Vomiting, Budd-Chiari syndrome, Iron deficiency an... OMIM:226300
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Rhabdoid Tumor
Hypertension, Nausea and vomiting, Neoplasm of the central nervous system, Thrombocytopenia, Weig... ORPHA:69077
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Erythroderma, Vomiting, Myeloproliferative disorder, Gastrointestinal ... ORPHA:79456
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Monosomy 13Q34
Prolonged prothrombin time, Epistaxis, Pulmonic stenosis, Obesity, Hematochezia ORPHA:96168
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Failur... OMIM:300400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Weight loss, Abdominal diste... ORPHA:298
20Q13.33 Microdeletion Syndrome
Failure to thrive in infancy, Small for gestational age, Hematochezia ORPHA:261311
Familial Colorectal Cancer Type X
Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neoplasm of the skelet... ORPHA:440437
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephri... ORPHA:2137
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Shortened QT interval, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatos... ORPHA:652
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Rectal prolapse, Hypertension, Schistocytosis, Vomiting, Peritonit... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Intussusception, Hemolytic anemia, Diarrhea, Abdomi... ORPHA:544482
Blue Rubber Bleb Nevus
Cavernous hemangioma, Gastrointestinal infarctions, Visceral angiomatosis, Volvulus, Microcytic a... ORPHA:1059
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Diarrhea OMIM:609313
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Failure to thrive, Abdominal distention, Anemia, Decreased liver function, Thrombocytop... OMIM:608104
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Splenomegaly, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:79301
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Neoplasm of the lung, Neoplasm of the central nervous system, Nausea ... ORPHA:83469
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Lynch Syndrome
Ovarian neoplasm, Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neop... ORPHA:144
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Failure to thrive, Cheilitis, Megaloblastic anemia, Decreased circ... ORPHA:90045
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased live... ORPHA:158061
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Nausea, Abdominal distention, Increased fecal coproporphyrin 3... ORPHA:100924
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Cholesteryl Ester Storage Disease
Nausea and vomiting, Esophageal varix, Splenomegaly, Hepatic failure, Diarrhea ORPHA:75234
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... OMIM:600376
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Weigh... ORPHA:2221
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... OMIM:301220
Mastocytosis
Nausea and vomiting, Anorexia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Sple... ORPHA:98292
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... OMIM:616005
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Feeding difficulties in infancy, Abdominal pain, Eosinophilic microabscess f... ORPHA:411696
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Feeding difficulties in infancy, Eczema, Abdominal distentio... ORPHA:3260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Villous atrophy, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic... OMIM:304790
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Sinusitis, Cleft palate, Rh... OMIM:251260
Immunodeficiency 46
Neutropenia, Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, A... OMIM:616740
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Ad... ORPHA:100079
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Failure to thrive, Feeding difficulties, Recurrent otitis media, Overweight,... OMIM:619575
Waldenström Macroglobulinemia
Anorexia, Normocytic anemia, Gingival bleeding, Leukemia, Monoclonal immunoglobulin M proteinemia... ORPHA:33226
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Abnormal bleeding, Diarrhea, Prote... OMIM:602579
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Hyaline Fibromatosis Syndrome
Gingival fibromatosis, Diarrhea OMIM:228600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosplenomega... OMIM:618935
Selective Igm Deficiency
Thyroid carcinoma, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodie... ORPHA:331235
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... OMIM:614328
Ppoma
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Diarrhea, Fat malabsorption OMIM:601847
Caroli Syndrome
Portal hypertension, Leukocytosis, Cholangitis, Cholangiocarcinoma, Esophageal varix, Leukopenia,... ORPHA:480520
Crimean-Congo Hemorrhagic Fever
Myocarditis, Thrombocytopenia, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute pancre... ORPHA:99827
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Decreased circulating total IgM, Hemolyti... OMIM:600903
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Zollinger-Ellison syndrome, Adenoma sebaceum, Insulinoma, Esophagitis, Th... OMIM:131100
Somatostatinoma
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... ORPHA:97283
Grfoma
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... ORPHA:97261
Dengue Fever
Cerebral hemorrhage, Nausea and vomiting, Gingival bleeding, Leukopenia, Petechiae, Epistaxis, Ga... ORPHA:99828
Medullary Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Weight loss, Nodular goiter, Medullary thyroid carcinoma, Primar... ORPHA:1332
Syndromic Diarrhea
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Small for gesta... ORPHA:84064
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Glucose/Galactose Malabsorption
Failure to thrive, Abdominal distention, Malabsorption, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Chylomicron Retention Disease
Vomiting, Failure to thrive, Steatorrhea, Malnutrition, Diarrhea OMIM:246700
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG ... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea, Con... OMIM:612692
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Burkitt lymphoma, Fulminant hepatitis, Decreased circulatin... OMIM:308240
Enteric Anendocrinosis
Portal hypertension, Diarrhea, Malabsorption, Vomiting ORPHA:83620
Good Syndrome
Sinusitis, Dysphagia, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent ski... ORPHA:169105
Mpi-Cdg
Portal hypertension, Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemo... ORPHA:79319
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Petechiae, Melena, Decreased body weight, Diarrhea, Abdominal pain,... ORPHA:340
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Astrocytoma, Goiter, Neoplasm of ... ORPHA:163634
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Eczema, Celiac disease, Stomatitis, Vomiting, Iron deficiency ... OMIM:212750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Failure to thrive, Lymphocyt... OMIM:617718
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Failure to thrive in infancy, Eczema, Villous atrophy, Erythroderma, Psoriasif... OMIM:606367
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Neoplasm of the pancre... ORPHA:2591
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa ... OMIM:187300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Failure to thrive in infancy, Recurrent aspiration pneumonia, T lymphocytope... ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre... OMIM:600802
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... OMIM:618523
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Weight loss, Abdominal distention, Malabsorption, A... ORPHA:92050
Mental Retardation, Autosomal Dominant 57
High palate, Feeding difficulties, Otitis media, Diarrhea, Constipation OMIM:618050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Failure to thrive, Decreased circulating IgA level, Redu... OMIM:102700
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Volvulus, Decreased circulating antibody le... ORPHA:90363
Glucagonoma
Stomatitis, Normochromic anemia, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... ORPHA:97280
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Failure to thrive, Increased circulating IgA level, Increased circulat... ORPHA:169154
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the rectum, Rectal prolapse, Anal canal squamous cell carcinoma... ORPHA:424019
Wild Type Abeta2M Amyloidosis
Abnormal intestine morphology, Dysphagia, Intestinal pseudo-obstruction, Macroglossia, Arthritis,... ORPHA:85446
Specific Granule Deficiency 2
Neutropenia, Myelodysplasia, Absent neutrophil specific granules, Failure to thrive, Recurrent ot... OMIM:617475
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Slender bu... OMIM:603041
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Failure to thrive, Decreased specific anti... OMIM:614576
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Hepatosplenom... OMIM:618999
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... OMIM:150550
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Anemia, Arthritis, Acn... ORPHA:324964
Typhoid
Infectious encephalitis, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Sk... ORPHA:99745
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, ... OMIM:231200
Brunner Syndrome
Diarrhea OMIM:300615
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhage, Anemia, Melena, Ani... ORPHA:98870
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Gastrointestinal... ORPHA:343
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea ORPHA:231
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Petechiae, Gastrointestinal hemorrhage, Hepatosplenomegaly, Diarrhe... ORPHA:85450
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Diarrhea OMIM:616069
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Bloody diarrhea, Thrombocytosis, Failure to thrive, Increased circulating IgG level... OMIM:618213
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Failure to thrive, Esophagitis, Eosinophilia OMIM:613412
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epist... OMIM:173470
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, A... ORPHA:188
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgD level, Vomiting, Increased circulating IgA level, Lymphad... OMIM:260920
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Cholelithiasis, Pancreatiti... ORPHA:65682
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... ORPHA:793
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Infectious encephalitis, Abnormal large intestine physiology,... ORPHA:3386
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Pgm3-Cdg
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Chylomicron Retention Disease
Vomiting, Acanthocytosis, Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Fat mal... ORPHA:71
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Vomiting, Pseudobulbar paralysis, Epistax... ORPHA:449285
Lysosomal Acid Lipase Deficiency
Portal hypertension, Esophageal varix, Vomiting, Leukopenia, Failure to thrive, Protuberant abdom... OMIM:278000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Cog7-Cdg
Small for gestational age, Failure to thrive, Feeding difficulties, Hepatosplenomegaly, Diarrhea ORPHA:79333
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Intestina... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Intestina... ORPHA:100077
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Abdominal distention, Gastrointestinal hemorrhage, Gastroesophag... ORPHA:2924
Proprotein Convertase 1/3 Deficiency
Obesity, Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Neuroblastoma, Susceptibility To, 1
Hypertension, Neuroblastoma, Ganglioneuroblastoma, Failure to thrive, Weight loss, Anemia, Gangli... OMIM:256700
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Multiple Endocrine Neoplasia Type 4
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... ORPHA:276152
Blue Rubber Bleb Nevus
Rectal prolapse, Hemangioma, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleedi... OMIM:112200
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Immunodeficiency 15B
Chronic diarrhea, Agammaglobulinemia, Decreased circulating antibody level, Failure to thrive OMIM:615592
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Simple Cryoglobulinemia
Raynaud phenomenon, Gastrointestinal hemorrhage, Vasculitis, Abdominal pain, Hypertension, Perica... ORPHA:91139
Paragangliomas 4
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... OMIM:115310
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Polycythemia Vera
Hypertension, Myelodysplasia, Gingival bleeding, Acute leukemia, Budd-Chiari syndrome, Weight los... ORPHA:729
Graft Versus Host Disease
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Nausea, Failure to thrive, Fasciitis,... ORPHA:39812
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Failure to thrive in infancy, Aganglionic megacolon, High palate, Nodular go... OMIM:162300
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Epistaxis, Cholelithiasis, Splenomegaly, Diarrhea, Fat malabsorption OMIM:211600
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Nausea and vomiting, Normocytic anemia, Anorexia, Celiac d... ORPHA:199299
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Squamous cell carcin... OMIM:226600
Whipple Disease
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Anemia, Malabso... ORPHA:3452
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti... ORPHA:542323
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Spontaneous hematom... ORPHA:849
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Myelodysplasia, Vomiting, Nausea, Failure to thrive, Feeding difficulties, Cerebral ischemia, Rey... ORPHA:927
Porphyria, Acute Intermittent
Hypertension, Hepatocellular carcinoma, Vomiting, Nausea, Tachycardia, Paralytic ileus, Diarrhea,... OMIM:176000
Carcinoid Syndrome
Right ventricular failure, Facial telangiectasia, Nausea and vomiting, Atypical pulmonary carcino... ORPHA:100093
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Splenome... ORPHA:131
Boutonneuse Fever
Petechiae, Leukopenia, Nausea, Increased circulating IgG level, Vasculitis, Increased circulating... ORPHA:83313
Cheilitis Glandularis
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm ORPHA:1221
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea OMIM:601110
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Melena, Chronic mucocutaneous candidiasis, Chronic diarrhea, Recurrent pneumonia, Eosi... OMIM:158310
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Retinal telangiectasia, Gastrointestinal hemorrhage, Pancytopenia, Portal hyper... OMIM:617341
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... OMIM:613736
Rapadilino Syndrome
Cleft palate, High, narrow palate, High palate, Diarrhea OMIM:266280
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Diar... ORPHA:54057
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Diarrhea, Bruising susceptibility, Hypertensi... ORPHA:79259
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... ORPHA:309108
Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Eczematoid dermatitis, Decreased pr... ORPHA:83471
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Omenn Syndrome
Leukocytosis, Erythroderma, Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Anemia,... ORPHA:39041
Rift Valley Fever
Anorexia, Infectious encephalitis, Gingival bleeding, Hepatitis, Anemia, Increased circulating Ig... ORPHA:319251
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Neuroendocrine neoplasm, Facial telangiectasia, Neoplasm of the lung, ... ORPHA:100085
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Protracted diarrhea, Failure to thrive, Decreased circulating IgA level, D... ORPHA:331206
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea OMIM:235555
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Iron deficiency anemia, Weight loss, Abdominal distention, S... ORPHA:309031
Vipoma
Normochromic anemia, Primary hyperparathyroidism, Parathyroid adenoma, Nausea and vomiting, Neopl... ORPHA:97282
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea, Fa... OMIM:607765
Mirage Syndrome
Intracranial hemorrhage, Myelodysplasia, Leukopenia, Petechiae, Anemia, Chronic diarrhea, Achalas... OMIM:617053
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Omenn Syndrome
B lymphocytopenia, Erythroderma, Pneumonia, Failure to thrive, Hypoplasia of the thymus, Anemia, ... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Diarrhea, Malabsorption, Splenomegaly OMIM:602347
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Prolonged prothrombin time, Anemia, Gastr... ORPHA:64743
Immunodeficiency 87 And Autoimmunity
Hemolytic anemia, Dilated cardiomyopathy, Third degree atrioventricular block, Cleft palate, Vill... OMIM:619573
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... ORPHA:171
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Weight loss, Arthrit... ORPHA:732
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart f... ORPHA:49827
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatitis, Splenomegaly, Steatorrhea, Hepatic failure, Diarrhea OMIM:613812
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Bruising susceptibility, Pericarditis, Vomiting, Peritonitis, Myositis, Fasciitis, ... ORPHA:32960
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Hashimoto thyroiditis, Carcinoma, Pituitary adenoma, Carcinoid tumor,... OMIM:610755
Cocaine Intoxication
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... ORPHA:90068
Acute Lung Injury
Shock, Abnormality of serum cytokine level, Increased circulating interleukin 6, Pneumonia, Acute... ORPHA:178320
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Telangiectasia, Erythroderma, Small for gestational age, Decreased ci... OMIM:601675
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, High palate, Decreased proportion of class-switched memory B cells, ... OMIM:233600
Relapsing Fever
Leukocytosis, Leukopenia, Vomiting, Prolonged prothrombin time, Epistaxis, Anemia, Tachycardia, N... ORPHA:91547
Neurofibroma
Spinal meningioma, Plexiform neurofibroma, Neoplasm of the breast, Neoplasia of the pleura, Spina... ORPHA:252183
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Diarrhea, Anemia ORPHA:858
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... ORPHA:2575
Necrotizing Enterocolitis
Shock, Leukocytosis, Bloody diarrhea, Neutropenia, Vomiting, Peritonitis, Small for gestational a... ORPHA:391673
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Vomiting, Failure to thrive, Decreased circulating IgA level, Dec... OMIM:275350
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Squamous cell carcinoma, Carcinoma OMIM:615225
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... OMIM:615207
Cheilitis Glandularis
Cheilitis, Squamous cell carcinoma, Carcinoma OMIM:118330
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Leukopenia, Failure to thrive, Chronic diarrhea, Esophageal stricture, Pa... OMIM:613989
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Vasculitis, Abnormal serum i... ORPHA:70578
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Inflammation of the large intestine, Abnormal T-wave, Palpita... ORPHA:70591
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Superficial dermal perivascular... ORPHA:324636
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Malabsorption, Jejunal atresia, Intest... OMIM:615710
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... OMIM:617321
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Failure to thrive, Feeding difficulties, Splen... OMIM:613489
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Anemia, Neutrophilia, Abnormal testis morphology, Diarrhea, Abdominal... ORPHA:54251
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Diarrhea, Arrhythmia, Constipation ORPHA:85447
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Failure to thrive, Decreased circulating IgA level, Decreased circulatin... OMIM:308230
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Vomiting, Leukopenia, Myositis, Abdominal distention, Discoid ... ORPHA:93552
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Splenomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Shwachman-Diamond Syndrome 2
High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Failure to thrive, Prolonged proth... OMIM:617941
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Telangiectasia, Myelodysplasia, Neutropenia, Vomiting, Small for gestationa... ORPHA:221008
Dermatomyositis
Myocarditis, Feeding difficulties in infancy, Gastrointestinal stroma tumor, Pericarditis, Lung a... ORPHA:221
Microscopic Polyangiitis
Sinusitis, Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Episcleritis, Periton... ORPHA:727
Alg1-Cdg
Cardiomyopathy, Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal t... ORPHA:79327
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of neutrophil physi... ORPHA:542592
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dysphagia, Nausea, Poor appetite, Diarrhea, Arrhythmia ORPHA:352447
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Subdural hemorrhage, Joint ... ORPHA:169802
Aa Amyloidosis
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Malnutrition, Abdominal pain, Hypotension ORPHA:85445
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Alg8-Cdg
Vomiting, Small for gestational age, Macroglossia, Failure to thrive, Feeding difficulties, Anemi... ORPHA:79325
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Visceral angiomatosis, Gastrointestinal hemorrhage, Transient ischemic attack, ... ORPHA:774
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Failure to thrive, Aplasia of the thymus, Panhypogammaglobulinemia, Otitis media, Diar... OMIM:602450
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Hermansky-Pudlak Syndrome
Anorexia, Neutropenia, Weight loss, Basal cell carcinoma, Epistaxis, Malabsorption, Squamous cell... ORPHA:79430
Familial Mediterranean Fever
Splenomegaly, Vasculitis, Diarrhea, Abdominal pain, Nausea and vomiting, Pericarditis, Acute hepa... ORPHA:342
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ov... OMIM:175200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Dysphagia, Failure to thrive, Feeding difficulties, Anemia, Gastrostomy t... ORPHA:89842
Immunodeficiency 22
Failure to thrive, Panniculitis, Diarrhea, Decreased proportion of CD4-positive helper T cells OMIM:615758
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Klippel-Trénaunay Syndrome
Hemangioma, Gastrointestinal hemorrhage, Microcytic anemia, Prolonged bleeding time, Congestive h... ORPHA:90308
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Vomiting, Nausea, Failure to thrive, Polycystic ovaries, Hepatocellular adenoma... ORPHA:264580
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Failure to thrive in infancy, Hypoparathyroidism, Hypochromic microcytic ... ORPHA:231226
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Abnormality of small intestinal villus morphology, Hypovol... ORPHA:2290
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Episodic abdominal pa... OMIM:249100
Lysosomal Acid Lipase Deficiency
Esophageal varix, Abdominal distention, Bone-marrow foam cells, Fatal liver failure in infancy, H... ORPHA:275761
Galactosemia
Vomiting, Failure to thrive, Feeding difficulties, Premature ovarian insufficiency, Hepatic failu... ORPHA:352
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Arthritis, Lymphoma, Splenomegaly, Uveitis, Inflammatory abnor... ORPHA:36412
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Cleft palate, Myelodysplasia, High palate, Vomiting, Neutropenia, Leukemia,... ORPHA:221016
Hepatocellular Carcinoma
Portal hypertension, Thrombocytosis, Anorexia, Esophageal varix, Budd-Chiari syndrome, Polycythem... ORPHA:88673
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Esophageal varix, Vomiting, Hepatocellular carcinoma, Failure to thrive, Polycystic ovaries, Hepa... ORPHA:370
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Splenomegaly, Poor appetite, Diarrhea, Decreased testicular size OMIM:201100
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Hodgkin lymphoma, Leukopenia, Carcinoma, Anemia, Acute myeloid leukemia, Esophage... OMIM:305000
Galactosemia I
Vomiting, Failure to thrive, Decreased liver function, Premature ovarian insufficiency, Diarrhea,... OMIM:230400
Stevens-Johnson Syndrome
Nausea and vomiting, Dysphagia, Weight loss, Anemia, Pancreatitis, Myocardial infarction, Gastroi... ORPHA:36426
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Vomiting, Myositis, Oligoarthritis, Chronic diarrhea, Gastrointestinal hemorrhage... OMIM:142680
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Nausea and vomiting, Failure to thrive, Weight loss, Anemia, Diarrhea ORPHA:1842
Anal Sphincter Dysplasia
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation OMIM:105563
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Capilla... ORPHA:36234
Lujo Hemorrhagic Fever
Myocarditis, Odynophagia, Excessive bleeding after a venipuncture, Maculopapular exanthema, Diarr... ORPHA:319213
Nijmegen Breakage Syndrome
Cachexia, Cleft palate, Rhabdomyosarcoma, Acute leukemia, Neoplasm, Lymphoma, Anal atresia, Chron... ORPHA:647
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced ejection fraction, Sudden cardiac death, Necrotizing enteroc... OMIM:201475
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Chronic oral candidiasis, Malabsorption, ... OMIM:240300
Marburg Hemorrhagic Fever
Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Odynophagia, Excess... ORPHA:99826
Oncogenic Osteomalacia
Carcinoma, Giant cell tumor of bone, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the ske... ORPHA:352540
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Beta-Thalassemia Major
Dilated cardiomyopathy, Failure to thrive in infancy, Anisopoikilocytosis, Hypoparathyroidism, Hy... ORPHA:231214
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea ORPHA:178029
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Vomiting, Diarrhea, Abdomi... OMIM:248360
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Feeding difficulties, Diarrhea, Abdominal pain, Constipation OMIM:613638
Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Abdominal pain, Diarrhea, Arrhythmia, Constipation ORPHA:1267
Malakoplakia
Inflammatory abnormality of the skin, Prostate neoplasm, Neoplasm of the rectum, Urinary bladder ... ORPHA:556
Adiposis Dolorosa
Constipation, Xerostomia, Telangiectasia of the skin, Arthritis, Recurrent skin infections, Obesi... ORPHA:36397
Erythermalgia, Primary
Keratoconjunctivitis sicca, Xerostomia, Palpitations, Diarrhea, Constipation OMIM:133020
Sandifer Syndrome
Feeding difficulties, Esophagitis, Anemia, Hiatus hernia, Hematemesis, Gastroesophageal reflux, E... ORPHA:71272
Rothmund-Thomson Syndrome
Neoplasm of the skin, Myelodysplasia, Neutropenia, Vomiting, Small for gestational age, Leukemia,... ORPHA:2909
Lissencephaly, X-Linked, 2
Diarrhea, Feeding difficulties in infancy, High palate, Decreased testicular size OMIM:300215
Pachydermoperiostosis
Neoplasm of the skin, Eczematoid dermatitis, Neoplasm of the lung, Seborrheic dermatitis, Anemia,... ORPHA:2796
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Vomiting, Permanent atrial fibrillati... ORPHA:31825
Xeroderma Pigmentosum Variant
Telangiectasia, Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Melanoma ORPHA:90342
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Bleeding with ... ORPHA:98878
Foodborne Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Abdominal pain, Diarrhea, Arrhythmia, Constipation ORPHA:228371
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Failure to thrive, C... OMIM:242700
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Failure to thrive, Abdominal pain, Weight loss, Anemi... OMIM:619377
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... ORPHA:679
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Feeding difficul... ORPHA:263501
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Increased circulating IgD l... OMIM:610377
Yellow Fever
Prolonged prothrombin time, Excessive bleeding after a venipuncture, Acute pancreatitis, Pancreat... ORPHA:99829
Plague
Inflammation of the large intestine, Splenomegaly, Diarrhea, Abdominal pain, Vomiting, Lymphadeni... ORPHA:707
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Arrhythmia, Skin rash ORPHA:29822
Lassa Fever
Shock, Nausea and vomiting, Dysphagia, Increased circulating IgM level, Abnormal bleeding, Diarrh... ORPHA:99824
Legionnaires Disease
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... ORPHA:549
Addison Disease
Nausea and vomiting, Hypoparathyroidism, Anorexia, Normocytic anemia, Celiac disease, Failure to ... ORPHA:85138
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... ORPHA:31205
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Abdominal distention, Primary hyperparathyroidism, Neoplasm of the skeletal ... ORPHA:653
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific a... ORPHA:221139
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis, Chronic diarrhea OMIM:616355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia,... OMIM:619313
Pediatric-Onset Graves Disease
Hypertension, Nausea and vomiting, Atrial fibrillation, Goiter, Neutropenia in presence of anti-n... ORPHA:525731
Cutaneous Mastocytoma
Vomiting, Nausea, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculop... ORPHA:79455
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Vomiting, Hepatocellular carcinoma, Nausea, Polycystic ovaries, Hepatocellular adenoma, Anemia, S... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Vomiting, Failure to thrive, Reye syndrome-like episodes, Acute hepatic failure, Osteomyelitis le... OMIM:256810
Recurrent Respiratory Papillomatosis
Syncope, Dysphagia, Failure to thrive, Squamous cell carcinoma, Recurrent pneumonia ORPHA:60032
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anorexia, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic l... ORPHA:514
Intestinal Botulism
Xerostomia, Nausea and vomiting, Dysphagia, Diarrhea ORPHA:178481
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Malnutrition, Abnormal erythrocyte morphology, Decreased body weight, Diarrhea, F... ORPHA:96180
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Gastrointestin... ORPHA:330001
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Failure to thrive in infancy, Pancreatitis, Chronic diarrhea, Microcytic ... OMIM:618805
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Nasogastric tube feeding, Vomiting, Failure to thrive ORPHA:289504
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Weight loss, Aortic regurgitation, Ar... ORPHA:29207
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Abdominal distention, Intestinal malrotation, Anal atresia, Secretory diarrhea OMIM:270420
Al Amyloidosis
Abnormal salivary gland morphology, Hypertrophic cardiomyopathy, Dysphagia, Abnormal P wave, Macr... ORPHA:85443
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerostomia, Pulmonar... ORPHA:809
Classic Galactosemia
Vomiting, Feeding difficulties, Premature ovarian insufficiency, Hepatic failure, Cryptorchidism,... ORPHA:79239
Glutaric Aciduria Iii
Hypertension, Goiter, Vomiting, Failure to thrive, Diarrhea OMIM:231690
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Anorexia, Bowel urgency, Pneumonia, Protracted ... ORPHA:97287
Angioedema, Hereditary, 1
Vomiting, Diarrhea, Abdominal pain, Intestinal edema OMIM:106100
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Diarrhea, Arrhythmia, Nausea OMIM:615084
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Gastrointestinal infarctions OMIM:602248
Acrodermatitis Enteropathica
Anorexia, Pustule, Failure to thrive, Cheilitis, Weight loss, Malabsorption, Furrowed tongue, Chr... ORPHA:37
Congenital Factor Xi Deficiency
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding after d... ORPHA:329