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Gene: Nlrp6 MGI:2141990

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NLR family, pyrin domain containing 6
Synonyms:
Nalp6

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nlrp6 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 Nlrp6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Dec... ORPHA:209964
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Muco... OMIM:615767
Angioedema, Hereditary, 3
Facial edema, Vomiting, Angioedema, Intestinal edema, Episodic abdominal pain, Pharyngeal edema OMIM:610618
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Increased circulating IgE level, Recurrent ... ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Weight loss, Constipation, Abdominal distention, Abdo... ORPHA:160148
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Weight loss, Abdominal distention, Deh... ORPHA:103910
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage OMIM:277175
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B ... OMIM:613501
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Rec... OMIM:308230
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r... OMIM:300635
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,... OMIM:607594
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... OMIM:613502
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, Lympha... OMIM:619164
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Autoimmune thrombocytopenia, Gastrointes... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ... OMIM:617514
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Intussusception, Adenomatous colonic polyposis, Endometrial carc... ORPHA:157794
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Conjunctiv... OMIM:240500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... ORPHA:169160
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Impaired lymph... OMIM:617006
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Leukocytosis, Chronic diarrhea, Panniculitis, Skin rash, Increased proportion of CD4-po... OMIM:617099
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... OMIM:616868
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co... OMIM:613101
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Immunodeficiency 104
Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:608971
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Angioedema, Laryngeal edema, Intestinal edema, Abdominal pain, Periorbital ed... OMIM:106100
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Hereditary Angioedema Type 1
Facial edema, Hypotension, Diarrhea, Vomiting, Tongue edema, Laryngeal edema, Edema of the dorsum... ORPHA:100050
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Recurrent respiratory infections, Absent circulating immunoglobulin kappa chain, Recurr... OMIM:614102
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... OMIM:243150
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... ORPHA:326
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Tenesmus, Protracted ... ORPHA:100082
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal... OMIM:209950
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur... OMIM:269840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I... OMIM:620565
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Chr... OMIM:615592
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec... OMIM:618495
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Gastrointestinal carcinoma, Hematochezia, Xerostomia, Diarrhea, Vomit... OMIM:175500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... OMIM:620632
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Edema, Duodenal polyposis, Multiple gastric polyps, Small intest... ORPHA:329971
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... ORPHA:436159
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... OMIM:137100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi... OMIM:601457
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Increased circulating fer... OMIM:616050
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Hyper-Igd Syndrome
Recurrent infections, Diarrhea, Vomiting, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegal... OMIM:260920
Angiostrongyliasis
Unusual CNS infection, Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... OMIM:301000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Intestinal obstruction, Celiac disease, Gastrointestinal eosinophilia, Right... ORPHA:90363
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... ORPHA:911
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurren... OMIM:614069
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Diarrhea, Pr... ORPHA:572
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,... ORPHA:331206
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Turcot Syndrome With Polyposis
Diarrhea, Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma,... ORPHA:99818
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Immunodeficiency 46
Sepsis, Conjunctivitis, Chronic diarrhea, Recurrent sinopulmonary infections, Neutropenia, Chroni... OMIM:616740
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... OMIM:616636
Immunodeficiency 69
Diarrhea, Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Giant cell hepatitis, Failure to thrive, Prolonged prothrombin tim... OMIM:214950
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ... OMIM:620282
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Ascites, Hypertrophic car... ORPHA:464321
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Recurrent respiratory infections, Lymphopenia, Leukopenia, Malar rash, Skin rash, ... OMIM:615934
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE... OMIM:620532
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... ORPHA:35078
Reticular Dysgenesis
Sepsis, Diarrhea, Recurrent respiratory infections, Leukopenia, Malabsorption, Skin rash, Anemia,... ORPHA:33355
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Weight... ORPHA:26790
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hy... OMIM:614470
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Vasculitis, Blepharitis, Failure to thrive, Re... OMIM:617718
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neut... OMIM:616395
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... OMIM:615617
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Obesity Due To Sim1 Deficiency
Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Polyphagia, A... ORPHA:369873
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip... ORPHA:2929
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Hematological neoplasm, Acute infectious pneumonia, Periorbi... ORPHA:73263
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Hepatitis, Prolonged prothrombin time... OMIM:613812
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Increased circu... OMIM:617388
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida... ORPHA:217390
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Acute leukemia, Arrhythmia, Purpura, Chro... ORPHA:906
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Abdom... ORPHA:83313
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,... OMIM:300755
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Increased circ... ORPHA:540
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Pustular rash, Recurrent otitis m... OMIM:619381
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract... OMIM:615758
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Failure... OMIM:615895
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Inflammatory abnormality of the skin, Increased circulating... OMIM:102700
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte prolifera... ORPHA:83471
Dystonia 31
Dysphagia, Abnormal posturing OMIM:619565
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG leve... ORPHA:90362
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent... OMIM:618131
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... ORPHA:2688
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio... ORPHA:331
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Rabies
Anorexia, Diarrhea, Nausea and vomiting, Recurrent pharyngitis ORPHA:770
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circula... OMIM:615607
Immunodeficiency 9
Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent... OMIM:612782
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Anasarca, Ascites, Pleural effusion... OMIM:618183
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy... OMIM:615863
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut... ORPHA:2494
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Chronic mucocuta... OMIM:618282
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Sepsis, Diarrhea, Vomiting, Hepatitis, Lymphopen... ORPHA:319218
Hereditary Folate Malabsorption
Cheilitis, Gastroesophageal reflux, Diarrhea, Recurrent respiratory infections, Recurrent urinary... ORPHA:90045
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Neuroendocrine Tumor Of The Colon
Hypotension, Lack of bowel sounds, Right ventricular failure, Protracted diarrhea, Anorexia, Hypo... ORPHA:100080
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstr... OMIM:226300
Autosomal Agammaglobulinemia
Recurrent infections, Sepsis, Diarrhea, Bronchiectasis, Recurrent respiratory infections, Hepatit... ORPHA:33110
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne... ORPHA:44890
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... OMIM:617241
Sandifer Syndrome
Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Episodic vo... ORPHA:71272
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Septic arthritis, C... OMIM:307200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Cervical lymphadenopathy, ... ORPHA:2686
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Right ventricular failure, Tricu... ORPHA:100075
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic failure, Hepatitis, Abnormal circulating lipid concentration, Splenomega... ORPHA:186
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Abdominal pain, Constipation, Abdom... ORPHA:35122
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Decre... OMIM:615577
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Viral hepatitis,... ORPHA:91139
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... OMIM:619313
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Pneumonia, Hepatitis, Atopic dermatitis, ... OMIM:615846
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties... OMIM:229050
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ... OMIM:615816
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Immunodeficiency 56
Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf... OMIM:615207
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruc... ORPHA:67
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Elevated circulating creatinine concentrati... ORPHA:29073
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Diarrhea, Recurrent respiratory infections, Abnormal lymphocyte morphology, Ma... ORPHA:229717
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata... OMIM:152800
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Abnormal blood ion concentr... ORPHA:810
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Aplastic anemia, Diarrhea, Periodontitis, Lymphopenia, Rec... ORPHA:486
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, BCGitis, Recurrent respiratory infections, Impaired oxidative burst, ... OMIM:226990
Perry Syndrome
Dementia, Hypotension, Depression ORPHA:178509
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Good Syndrome
Mediastinal lymphadenopathy, Diarrhea, Recurrent urinary tract infections, Recurrent skin infecti... ORPHA:169105
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Giant cell hepatitis ORPHA:79095
20Q13.33 Microdeletion Syndrome
Failure to thrive in infancy, Hematochezia, Oligohydramnios, Small for gestational age ORPHA:261311
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Increased tota... ORPHA:2137
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsor... OMIM:242860
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Dys... ORPHA:90038
Xq28 (MECP2) duplication
Gastroesophageal reflux, Decreased circulating IgA level, Feeding difficulties in infancy, Consti... DECIPHER:45
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, L... OMIM:615387
Monosomy 13Q34
Hematochezia, Epistaxis, Obesity, Prolonged prothrombin time, Pulmonic stenosis ORPHA:96168
Hirschsprung Disease
Sepsis, Diarrhea, Functional abnormality of the gastrointestinal tract, Intestinal polyposis, Nau... ORPHA:388
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:606528
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Omenn Syndrome
Pneumonia, Recurrent viral infections, Diarrhea, Splenomegaly, Recurrent bacterial infections, Hy... OMIM:603554
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Recurrent bro... OMIM:616069
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Sepsis In Premature Infants
Diarrhea, Invasive fungal infection, Vomiting, Abdominal distention, Decreased liver function, Fu... ORPHA:90051
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia OMIM:606764
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Feeding difficulties, Abdominal distention, High pal... OMIM:620045
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina... ORPHA:873
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating C-reactive pro... OMIM:620376
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm... ORPHA:169079
Chylomicron Retention Disease
Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Malnutrition, Hypocholesterolemia, Accu... OMIM:246700
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... OMIM:256040
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Cervical lymphadenopathy, Leukocytos... ORPHA:3392
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H... OMIM:301078
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ... ORPHA:544482
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... OMIM:313900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Polyhydramnios, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficu... OMIM:616809
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Hypercholesterolemia, Hypertriglyce... ORPHA:75234
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa... ORPHA:98850
Papa Syndrome
Increased circulating antibody level, Increased inflammatory response, Myositis, Crohn's disease,... ORPHA:69126
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation ORPHA:231
Immunodeficiency 31C
Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Gastrointestin... OMIM:614162
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Brunner Syndrome
Diarrhea OMIM:300615
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Increased circulating IgE level, Villous atrophy, Pustule, Erythrod... OMIM:614328
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Hypotriglyceridemi... ORPHA:2298
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Decreased circulating IgA level, Pancytopeni... OMIM:275350
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase... ORPHA:507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hepatic failur... ORPHA:158057
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Volvulus, Gastrointestinal infarctions, Skin rash, ... ORPHA:1059
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Failure to thrive, Recurrent otitis media, Chronic constipatio... OMIM:619575
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ... OMIM:256500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Celiac disease, Recurrent infections, Thy... OMIM:618985
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Intestinal inflammation, Chilblain... OMIM:619858
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Conjunctivitis, Osteomyelitis, Malabsorption, Chronic dia... ORPHA:47
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Anemia, Increased circulating ... ORPHA:37748
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurre... OMIM:609536
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to thrive, D... ORPHA:79319
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Inflammatory abnormality of the s... ORPHA:398063
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman... ORPHA:79078
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel... OMIM:131100
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of... ORPHA:158061
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Inflammatory Pseudotumor Of The Liver
Vomiting, Increased hepatitis B virus antibody level, Neoplasm of the liver, Abdominal pain, Abdo... ORPHA:90003
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... OMIM:618752
Mohr-Tranebjaerg Syndrome
Dysphagia, Abnormal posturing OMIM:304700
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Cog7-Cdg
Diarrhea, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Recurrent infec... ORPHA:79333
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Decreased lymphocyte proli... ORPHA:221139
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Elevated circulating C-reactive protein ... ORPHA:54251
Familial Colorectal Cancer Type X
Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop... ORPHA:440437
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Nausea and vomiting, Intestinal obstruc... ORPHA:543
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Gastrointest... OMIM:600376
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc... OMIM:233600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:324964
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Ascites, Pheochromocytoma, Nausea ... ORPHA:139411
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Chronic diarrhea, ... OMIM:116920
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-... ORPHA:125
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Hyperammonemia, Pancreatitis, A... OMIM:620137
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Neoplasm of head and neck, Neoplasm of the thyroid glan... ORPHA:99867
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Colonic eosinophilia, Eosinoph... OMIM:618999
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding ... OMIM:231200
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Orchitis, Crohn... OMIM:249100
Mevalonic Aciduria
Recurrent infections, Diarrhea, Vomiting, Fluctuating splenomegaly, Morbilliform rash, Hepatosple... OMIM:610377
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs... ORPHA:131
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Severe infection, Leukocytosis ORPHA:206594
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Acute hepatic failur... OMIM:619644
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple... ORPHA:2930
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural eff... OMIM:602248
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Multiple Endocrine Neoplasia Type 1
Diarrhea, Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell ade... ORPHA:652
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer OMIM:137270
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... ORPHA:39812
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction OMIM:137560
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Increased circulating interleukin 8 concen... OMIM:620514
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Paraproteinemia, High palate, Mildly elevated creatine kinase, Feeding d... ORPHA:171442
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... ORPHA:100924
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Nausea and vomit... ORPHA:549
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea OMIM:610370
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Gastrointestinal hemorrhage, Excessive... OMIM:618462
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating C-reactive... OMIM:619573
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive OMIM:301108
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Diarrhea, Vomiting, Gastrointestinal dysmotility, Abnormality of the gas... ORPHA:298
Thrombotic Thrombocytopenic Purpura
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum c... ORPHA:54057
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Failure to thrive ORPHA:79301
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Meningitis, Recurrent skin infections, Ost... ORPHA:36234
Syndromic Diarrhea
Abnormality of iron homeostasis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Vil... ORPHA:84064
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea OMIM:613291
Lassa Fever
Diarrhea, Sepsis, Nausea and vomiting, Conjunctivitis, Abdominal pain, Increased circulating IgM ... ORPHA:99824
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... OMIM:619971
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Decreased testicular ... OMIM:620040
Relapsing Fever
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Leu... ORPHA:91547
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Abdominal distention, Eczematoid dermatitis, Decreased circulating IgA level,... OMIM:212750
Lynch Syndrome
Neoplasm of the skin, Nausea and vomiting, Neoplasm of the skeletal system, Neoplasm of the rectu... ORPHA:144
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Malabsorption, Psoriasiform derma... ORPHA:793
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Decreased HDL cholesterol concentration, Acute hepatic failu... OMIM:278000
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Lymphoc... ORPHA:79456
Serotonin Syndrome
Mental deterioration, Acute kidney injury, Hypotension, Confusion, Irritability, Delirium, Tachyc... ORPHA:43116
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism,... OMIM:613385
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Hypotension, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, C... ORPHA:98849
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Abnormal posturing, Aspiration pneumonia ORPHA:216866
American Trypanosomiasis
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lym... ORPHA:3386
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Sepsis, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukope... ORPHA:454836
Diarrhea 13
Hypoalbuminemia, Vomiting, Secretory diarrhea OMIM:620357
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... ORPHA:98878
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia... ORPHA:93552
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Abnormal posturing, Failure to thrive, Pulmonary arterial hypertension, ... OMIM:614857
Alg12-Cdg
Abnormal circulating IgG level, Cryptorchidism, Recurrent pharyngitis, Partial absence of specifi... ORPHA:79324
Necrotizing Enterocolitis
Diarrhea, Vomiting, Abdominal distention, Hypoactive bowel sounds, Leukocytosis, Hyponatremia, Pe... ORPHA:391673
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa... ORPHA:99745
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Hyperbilirubinemia, Interface hepatitis, Sclerosi... ORPHA:562639
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... ORPHA:32960
Hereditary Amyloidosis With Primary Renal Involvement
Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Dyspepsia, ... ORPHA:85450
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Mercury Poisoning
Hypotension, Acute kidney injury, Confusion, Anorexia, Tachycardia, Hypertension ORPHA:330021
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ... OMIM:617591
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Sepsis, Decreased liver function, Abnormality of the... ORPHA:79327
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Nausea and vomiting, Skin rash, Thrombocytopen... ORPHA:99828
Congenital Toxoplasmosis
Anemia, Diarrhea, Lymphadenopathy, Thrombocytopenia ORPHA:858
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Cog4-Cdg
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infection of the gast... ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Elevat... OMIM:608104
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Elevated circulating creatine kinase concentration, Nausea, Recurrent infections, Dysph... ORPHA:352447
Tick-Borne Encephalitis
Unusual CNS infection, Myelitis, Vomiting, Anorexia, Leukopenia, Abnormal circulating cytokine co... ORPHA:297
Multiple Endocrine Neoplasia Type 4
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angio... ORPHA:276152
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Cocaine Intoxication
Pulmonary edema, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachy... ORPHA:90068
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level, Ileus, Splenomegaly, Elevated circulating c... OMIM:613327
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Reduced circulating complement concentration, Nausea and vomiting, Sple... ORPHA:36412
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, Splenomegaly, Conjugated hy... OMIM:607765
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Intractable diarrhea, Recurrent otitis media, Recurrent bacterial in... OMIM:617475
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Elevated c... OMIM:603041
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr... OMIM:619693
Glycogen Storage Disease Ixb
Diarrhea, Splenomegaly, Hyperuricemia OMIM:261750
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Skin rash, Chronic constipatio... OMIM:142680
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Intussusc... OMIM:112200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Zika Virus Disease
Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Thrombocytopenia... ORPHA:448237
Prolidase Deficiency
Recurrent infections, Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circula... OMIM:170100
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Decreased body weight, Pulmonary edema, Acute tubulointerstitial nephritis, Glomerulone... ORPHA:340
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Skin rash, Abnormality of the gastrointestinal tract, Genera... ORPHA:33276
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Feeding difficulties in infancy, Erythroderma, ... ORPHA:3260
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi... ORPHA:679
Rift Valley Fever
Severe viral infection, Hepatitis, Anorexia, Skin rash, Infectious encephalitis, Hematemesis, Thr... ORPHA:319251
Waldenström Macroglobulinemia
Normocytic anemia, Recurrent infections, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M... ORPHA:33226
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Nausea and vomiting, Retinal hemorrhage, Erythema... ORPHA:99827
Omenn Syndrome
Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Eryt... ORPHA:39041
Galactosemia I
Increased level of galactitol in red blood cells, Vomiting, Diarrhea, Decreased liver function, R... OMIM:230400
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Gastrocutaneous Syndrome
Hiatus hernia, Peptic ulcer ORPHA:2069
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Impaired T cell function, Recurrent candida infections, Decreased testicular size, Sple... OMIM:201100
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Diarrhea, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:235555
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Esophageal varix OMIM:617341
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch... ORPHA:470
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Lymphedema, Portal hypertension, Nausea and vomiting, Multiple lipom... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Recurrent respi... OMIM:613489
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Hemangioma, I... ORPHA:90308
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Diar... ORPHA:420741
Pachydermoperiostosis
Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Edema, Eczematoid dermatitis, Os... ORPHA:2796
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hypert... ORPHA:247598
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Rey... ORPHA:927
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Enterokinase Deficiency
Diarrhea, Hypoproteinemia OMIM:226200
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Post-partum hemorrhage, Oral cavity bleeding, Melena ORPHA:98870
Parathyroid Carcinoma
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarc... ORPHA:143
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive... ORPHA:1163
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Maculopapular Cutaneous Mastocytosis
Nausea, Vomiting, Diarrhea, Abdominal pain ORPHA:79457
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... OMIM:201475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane... OMIM:235400
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Ascites, Acute hepatic failure, ... OMIM:276700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Fe... OMIM:250940
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein... ORPHA:85445
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Thrombocytopenia, ... OMIM:251000
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Memory impairment, Depression, Urinary bladder sphincter dysfunction, Hypertension, ... ORPHA:93256
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Hyponatremia, Feeding difficulties in infancy, Recurrent respiratory infectio... OMIM:264350
Mogs-Cdg
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Decre... ORPHA:79330
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent pneumonia, Diarrhea, Recurrent urinary tract infections, Recurrent otiti... OMIM:251260
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei... OMIM:607115
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous li... ORPHA:97278
Mirage Syndrome
Gastroesophageal reflux, Sepsis, Hyperkalemia, Recurrent urinary tract infections, Aspiration pne... OMIM:617053
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Palpitations, Hypertension associated with pheochro... OMIM:115310
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Sepsis, Pituitary adenoma, Diarrhea, Hepatitis, Nausea and vomiting, Macrocyti... ORPHA:199299
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Lym... ORPHA:3226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Recurrent respiratory infections, Hepatosplenomegaly, ... OMIM:618278
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr... OMIM:617827
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Corneal neova... OMIM:158310
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aph... ORPHA:29207
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Conjugated hyperbilirubinemia, Fat malabsorption OMIM:211600
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... OMIM:615710
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Chylomicron Retention Disease
Diarrhea, Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Steatorrhea, Fat m... ORPHA:71
Grfoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Parathyroid adenoma, Anorexia... ORPHA:97261
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Men... ORPHA:342
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Caroli Syndrome
Hepatic failure, Abnormal bleeding, Portal hypertension, Abdominal rigidity, Hematemesis, Cholang... ORPHA:480520
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Renal hamartoma, Shortened QT interval, Pancreatic adenocarcinoma, Thyroid carcinom... ORPHA:99880
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Rat-Bite Fever
Sepsis, Diarrhea, Vomiting, Lymphadenitis, Parotitis, Septic arthritis, Morbilliform rash, Skin r... ORPHA:31205
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Villous atrophy... OMIM:602579
Myeloma, Multiple
Paraproteinemia OMIM:254500
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
C3 Glomerulopathy
Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ... ORPHA:329918
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Uveitis, Congestive heart failure, ... ORPHA:727
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Central Diabetes Insipidus
Hyponatremia, Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Head titubation, Intestinal atresia, Rectovagi... OMIM:619708
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... ORPHA:707
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinop... OMIM:615508
Methionine Malabsorption Syndrome
Positive ferric chloride test, Diarrhea OMIM:250900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Unusual CNS infection, F... ORPHA:228123
Cystic Echinococcosis
Peritoneal abscess, Unusual infection, Abnormality of the testis size, Invasive parasitic infecti... ORPHA:400
Lead Poisoning
Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,... ORPHA:330015
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Recurrent infection of the gastrointestinal tract, ... ORPHA:51890
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... ORPHA:2908
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Decreased ... ORPHA:77259
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectious encephali... ORPHA:3452
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Constipation, Reduced erythrocyte porphobili... OMIM:176000
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Rec... ORPHA:90035
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Feeding difficulties, Cryptorchidism, Thrombocytopenia OMIM:616638
Inhalational Anthrax
Confusion, Hypotension, Internal hemorrhage ORPHA:247257
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Nasogastric tube feeding, Titubation, Dysphagia, Poor suck ORPHA:225147
Snakebite Envenomation
Epistaxis, Hypotension, Acute kidney injury, Neuromuscular dysphagia, Cardiogenic shock, Pseudobu... ORPHA:449285
Hyperprolinemia Type 2
Diarrhea, Hyperglycinemia, Hyperprolinemia, Hyperalaninemia, Abdominal pain, Dysphagia, Feeding d... ORPHA:79101
Combined Malonic And Methylmalonic Acidemia
Vomiting, Nasogastric tube feeding, Dicarboxylic acidemia, Intermittent diarrhea, Methylmalonic a... ORPHA:289504
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous li... ORPHA:97283
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Increased circulating antibody level,... ORPHA:723
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Sepsis, Cryptorchidism, Abnormal erythrocyte enzyme concentr... ORPHA:79239
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Diarrhea, Vomiting, Hypocholesterolemia, Decrea... OMIM:212065
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Opportunistic infection, Elevated circulating creatin... ORPHA:99829
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:607143
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocalcemia, Sclerosin... ORPHA:64744
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia OMIM:605735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Thyroiditis, Inflammation of the large intestine, Diarrhea... ORPHA:79259
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distentio... ORPHA:35710
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Increased circulating prolactin concentration, Constipation, D... ORPHA:35708
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... ORPHA:411703
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Cryptorchidism, Chronic constipation, Unilateral cryptorchidism, Chronic ... OMIM:617788
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Intussusception, Bloody diarrh... OMIM:175200
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Lymphoma, Failure to thrive in infancy, Otitis media, Gast... ORPHA:1572
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Immunodeficiency 68
Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A... OMIM:612260
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Skin rash ORPHA:29822
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Cryptorchidism, Lactose intolerance, Protuberant abdomen, Intest... ORPHA:457485
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Nausea and vomiting, Pancreatitis, Acholic stools, Abdominal pain, Chro... ORPHA:65682
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1, Panhypopituitarism, Decreased testicular size, Recurrent infe... OMIM:300953
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Irritability, Prematu... OMIM:212138
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop... ORPHA:3240
Lujo Hemorrhagic Fever
Abdominal cramps, Diarrhea, Vomiting, Severe viral infection, Lymphopenia, Leukopenia, Leukocytos... ORPHA:319213
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... OMIM:612840
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Confusion, Renal insufficiency, Renal tubular dysfu... ORPHA:31826
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Iron deficiency anemia, High palate OMIM:607906
Hydroxykynureninuria
Tachycardia, Hypotension, Motor stereotypy, Renal tubular acidosis ORPHA:79155
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Multiple lipomas, Pancreatitis OMIM:145981
Systemic Capillary Leak Syndrome
Diarrhea, Leukocytosis, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis ORPHA:188
Primary Sclerosing Cholangitis
Acute hepatic failure, Weight loss, Abdominal pain, Celiac disease, Adenocarcinoma of the large i... ORPHA:171
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Chronic diarrhea, Pancreatitis, Hypoalbuminemia OMIM:618805
Dubowitz Syndrome
Recurrent infections, Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, ... OMIM:223370
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Ascites, Portal hypertension, Gastric varix, Prol... ORPHA:64743
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... ORPHA:274
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated... OMIM:615688
B4Galt1-Cdg
Inflammatory abnormality of the skin, Diarrhea, Splenomegaly, Elevated circulating creatine kinas... ORPHA:79332
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi... OMIM:617321
Netherton Syndrome
Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Malabso... ORPHA:634
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circulating renin... OMIM:177735
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Pancreati... OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption, Splenomegaly, Increased serum bile acid concentration, Bile duct prolife... OMIM:602347
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Lack of bowel sounds, Protracted d... ORPHA:100093
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Chr... ORPHA:100079
Wolfram Syndrome 2
Peptic ulcer, Abnormal bleeding OMIM:604928
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Dystonia 1, Torsion, Autosomal Dominant
Dysphagia, Abnormal posturing OMIM:128100
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea, Hemolytic anemia OMIM:615399
Glucagonoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Parathyroid adenoma, Anorexia... ORPHA:97280
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... ORPHA:903
Mitochondrial Dna Depletion Syndrome 11
Nausea, Recurrent infections, Chronic diarrhea, Elevated circulating creatine kinase concentration OMIM:615084
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concen... ORPHA:264580
Cutaneous Mastocytoma
Vomiting, Diarrhea, Abdominal pain, Nausea, Maculopapular exanthema ORPHA:79455
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, Leukopenia, Neutrop... OMIM:613989
Bone Dysplasia, Lethal Holmgren Type
Anemia, Recurrent respiratory infections, Diarrhea, Nausea and vomiting ORPHA:1842
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion... OMIM:277400
Q Fever
Pneumonia, Unusual infection, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Splenomega... ORPHA:781
Polycythemia Vera
Gingival bleeding, Early satiety, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism... ORPHA:729
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel... OMIM:181000
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Exocrine pancreatic ... OMIM:620005
Alg8-Cdg
Diarrhea, Vomiting, Hyponatremia, Abnormality of the gastrointestinal tract, Thrombocytopenia, An... ORPHA:79325
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase concen... ORPHA:79240
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Corticosteroid-Binding Globulin Deficiency
Hypotension, Decreased urinary potassium, Hypertension OMIM:611489
Listeriosis
Diarrhea, Arteritis, Abscess, Pustule, Abdominal pain, Meningitis, Endocarditis, Unusual CNS infe... ORPHA:533
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... OMIM:607364
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate OMIM:601110
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent infections, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin... ORPHA:2314
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Menorrhagia,... ORPHA:324636
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Acute Radiation Syndrome
Diarrhea, Vomiting, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, ... ORPHA:454831
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Chronic diarrhea, Malabsorption, Abdominal distention OMIM:606824
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Nausea and vomiting, Abnormality of th... ORPHA:2241
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... ORPHA:42
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... OMIM:240300
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Lymphadenopathy, Macroglossia, Glossitis, Ovarian neoplasm, Poor appetite ORPHA:2221
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... ORPHA:275761
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... ORPHA:436252
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Recurrent otitis media, Leukocyt... OMIM:620233
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Nephritis, Leukopenia,... OMIM:617303
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Leukocytosis, A... ORPHA:86839
Lissencephaly, X-Linked, 2
Decreased testicular size, High palate, Diarrhea, Feeding difficulties in infancy OMIM:300215
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Lymphadenopathy, Nodular goiter, Dysphagia, Primary hyperparathyroidism ORPHA:1332
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Inc... ORPHA:85443
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Diarrhea, Exocrine pancreatic insufficiency, Hyperechoge... OMIM:617941
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation OMIM:133020
Glutaric Aciduria Iii
Diarrhea, Vomiting, Goiter OMIM:231690
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchi... ORPHA:449563
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia ORPHA:230839
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Recurrent infections, Diarrhea, Vomiting, Recurrent urinary tract infectio... ORPHA:361
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic a... OMIM:557000
Congenital Disorder Of Glycosylation, Type Iib
High palate, Decreased circulating antibody level, Decreased circulating IgA level, Feeding diffi... OMIM:606056
Fumarase Deficiency
Hepatic failure, Cutaneous leiomyoma, Failure to thrive, Ascites, Polyhydramnios, High palate, Ne... OMIM:606812
Leukocyte Adhesion Deficiency Type Ii
Recurrent infections, Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Microcy... ORPHA:99843
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hemophagocytosis, Intraalveolar phospholipid accumulation, Malnutrition, Incr... OMIM:222700
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Elevated circu... OMIM:212140
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea, Hyperlipidemia ORPHA:31825
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Petechiae, Keratoconjuncti... ORPHA:91138
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Joint swelling, Skin rash, Myos... ORPHA:809
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Myoglobinuria, Tachycardia OMIM:145600
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sepsis, Diarrhea, Conjunctivitis, Recurrent respiratory infections, ... ORPHA:36426
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Abdominal pain, Dysphagia ORPHA:589821
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Proprotein Convertase 1/3 Deficiency
Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Ray... OMIM:192315
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, ... ORPHA:363705
Imerslund-Grasbeck Syndrome 2
Anemia, Diarrhea, Megaloblastic anemia, Recurrent urinary tract infections OMIM:618882
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Diarrhea, Splenomegaly OMIM:252920
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... ORPHA:499009
Colchicine Poisoning
Vomiting, Diarrhea, Hypomagnesemia, Abnormal blood ion concentration, Leukocytosis, Hypocalcemia,... ORPHA:31824
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Diarrhea, Dysphagia, Splenomegaly OMIM:252930
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... OMIM:210900
Kawasaki Disease
Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Cervical lymphadenopathy... ORPHA:2331
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de... OMIM:612132
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... ORPHA:289390
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal distentio... ORPHA:677
Satoyoshi Syndrome
Mildly elevated creatine kinase, Diarrhea, Malabsorption OMIM:600705
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Palpitations, Salt cra... OMIM:263800
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Diarrhea, Splenomegaly OMIM:252900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Vomiting, Gastroesophageal reflux, Elevated circulating creatinine concentration, Recur... OMIM:223900
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Acute hepatic failure, Hyperbilirubin... OMIM:613070
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash, Increased serum zinc OMIM:601979
Biotinidase Deficiency
Vomiting, Diarrhea, Splenomegaly, Skin rash, Hyperammonemia, Feeding difficulties in infancy, Seb... OMIM:253260
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Renal sodium wasting ORPHA:556037
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abe... ORPHA:96180
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Glycogen Storage Disease Ic
Inflammation of the large intestine, Spider hemangioma, Gout, Chronic pancreatitis, Hypertension,... OMIM:232240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Myoglobinuria... OMIM:620300
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Hepatosplenomeg... OMIM:219700
Citrullinemia Type Ii
Hypoalbuminemia, Vomiting, Diarrhea, Decreased HDL cholesterol concentration, Hyperlipidemia, Acu... ORPHA:247585
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h... OMIM:177850
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Thrombocytosis, Leukocytosis, Hyperammonemia, Hyperuricemia, Anorexia ORPHA:134
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Alveolar Echinococcosis
Vomiting, Cutaneous abscess, Decreased liver function, Increased circulating antibody level, Eosi... ORPHA:284
Dpm1-Cdg
High, narrow palate, Diarrhea, Hepatosplenomegaly, Elevated circulating creatine kinase concentra... ORPHA:79322
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Irritability, Arrhythmia, Ventricul... ORPHA:159
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hypotension OMIM:203400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hypophosphatemia, Steatorrhea OMIM:605911
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Hyperphosphatemia ORPHA:94086
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Goiter, Nausea and vomiting, Splenomegaly, Episcleritis, Thrombocytopenia, N... ORPHA:525731
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... ORPHA:85435
Japanese Encephalitis
Diarrhea, Vomiting, Anorexia, Infectious encephalitis, Increased circulating antibody level, Hypo... ORPHA:79139
Psoriasis 14, Pustular
Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu... OMIM:614204
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Familial Hypoaldosteronism
Hypotension, Decreased urinary potassium, Orthostatic hypotension, Proximal renal tubular acidosi... ORPHA:427
Generalized Pustular Psoriasis
Hypoalbuminemia, Sepsis, Lymphopenia, Leukocytosis, Hypocalcemia, Palmoplantar pustulosis, Pustul... ORPHA:247353
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein c... ORPHA:457077
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen... OMIM:309900
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Angioedema, Gastrointestinal in... ORPHA:761
Neuroleptic Malignant Syndrome
Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Proteinuria, Delirium,... ORPHA:94093
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Renal sodium wasting ORPHA:556030
Meningococcal Meningitis
Hypotension, Shock, Renal insufficiency, Irritability, Anorexia ORPHA:33475
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Increased serum bile acid... OMIM:619377
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Multiple lipomas, Pancreatitis OMIM:600740
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Reye syndrome-like e... ORPHA:20
Staphylococcal Necrotizing Pneumonia
Shock, Confusion, Addictive alcohol use, Hypotension ORPHA:36238
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia OMIM:609313
Adiposis Dolorosa
Diarrhea, Xerostomia, Constipation, Arthritis, Recurrent skin infections ORPHA:36397
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea, Splenomegaly OMIM:619849
Gaisböck Syndrome
Peptic ulcer, Elevated diastolic blood pressure, Obesity, Gout, Cholecystitis, Angina pectoris, O... ORPHA:90041
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Weight lo... ORPHA:537
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Protruding tongue, Constipation... OMIM:617062
Developmental And Epileptic Encephalopathy 50
Diarrhea, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia OMIM:616457
Hereditary Fructose Intolerance
Hypermagnesemia, Vomiting, Diarrhea, Hyperuricemia, Abdominal pain, Constipation, Chronic hepatic... ORPHA:469
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... OMIM:601675
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... ORPHA:93672
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu... ORPHA:86816
Scleromyxedema
Gastroesophageal reflux, Paraproteinemia, Elevated circulating creatine kinase concentration, Abn... ORPHA:167635
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper... OMIM:620358
Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Arrhythmia, Weight loss, Prostatitis, Inflammatory a... ORPHA:900
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Depression, Hypotension, Congestive heart failure, Emotional lability, Arrhythm... ORPHA:428
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Decreased circulating carnitine ... ORPHA:71212
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... ORPHA:556
Ileal Neuroendocrine Tumor
Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Na... ORPHA:100078
Poliomyelitis
Hypovolemic shock, Hypotension, Confusion, Irritability, Hypertension, Anorexia, Dysphagia, Agita... ORPHA:2912
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hepatic failure, Intestinal malrotation, Oligohydramnios, Portal hypertension OMIM:619431
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis OMIM:608654
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Ascites, Portal hypertension, Pulmonary arterial ... ORPHA:974
Pseudoxanthoma Elasticum
Acne, Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Skin rash... ORPHA:758
Encephalitis Lethargica
Recurrent viral infections, Bowel incontinence, Increased circulating antibody level ORPHA:83600
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea, Decreased circulating chenodeoxycholic acid concentration OMIM:619481
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p... ORPHA:676
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... OMIM:255120
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties OMIM:602473
Cholera
Vomiting, Diarrhea, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypokal... ORPHA:173
Dermatomyositis
Lung adenocarcinoma, Feeding difficulties in infancy, Weight loss, Arrhythmia, Periorbital edema,... ORPHA:221
Fabry Disease
Vomiting, Diarrhea, Tenesmus, Abdominal pain, Anemia, Nausea OMIM:301500
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Caroli Disease
Cholelithiasis, Vomiting, Leukocytosis, Splenomegaly, Abdominal pain, Abdominal rigidity, Cholang... ORPHA:53035
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Acute Adrenal Insufficiency
Normocytic anemia, Diarrhea, Recurrent acute respiratory tract infection, Nausea and vomiting, Hy... ORPHA:95409
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis OMIM:217090
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Bifid uvula, Intractable diarrhea, Hepatic failure, Hypermethioninemia, Increase... OMIM:222470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Conjunctiv... ORPHA:505248
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creatinine concentration, Dec... OMIM:608836
Addison Disease
Normocytic anemia, Diarrhea, Nausea and vomiting, Thiamine-responsive megaloblastic anemia, Hyper... ORPHA:85138
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath... ORPHA:79430
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Cryptorchidism ORPHA:3409
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Congenital Myopathy 20
High palate, Chronic diarrhea OMIM:620310
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Chronic noninfectious lymphadenopathy, Episodic abdominal pain, N... ORPHA:100085
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Pheochromocytoma, Aganglionic megacolon, Cons... OMIM:162300
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Elevated circulating ... ORPHA:91500
Liver Disease, Severe Congenital
Diarrhea, Recurrent otitis media, Hyperbilirubinemia, Abdominal distention, Hypoproteinemia, Ecze... OMIM:619991
Phoar2-Enteropathy Syndrome
Acne, Seborrheic dermatitis, Secretory diarrhea, Hypoalbuminemia OMIM:614441
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea OMIM:560000
Behçet Disease
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A... ORPHA:117
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Decreased circulating IgA level, Abnormal gastroint... ORPHA:369837
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Hypophosphatemic rickets, Abnormal circulating fatty-acid concentration ORPHA:263455
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Hyponatremia, Constipation, Abdomin... ORPHA:79276
19P13.13 Microdeletion Syndrome
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Abdominal pain, Macrogl... ORPHA:357001
Dopamine Beta-Hydroxylase Deficiency
Vomiting, Diarrhea, Elevated circulating creatinine concentration, Increased blood urea nitrogen,... ORPHA:230
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Elevated stool chloride content, Hypokalemia, Hyponatremia, Abdominal distent... OMIM:214700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Pancytopenia, Skin rash, Episodic vomiting OMIM:618321
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin l... ORPHA:247691
Familial Hypocalciuric Hypercalcemia
Peptic ulcer, Nausea and vomiting, Episodic abdominal pain, Pancreatitis, Lipoma ORPHA:405
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Dysphagia, D... ORPHA:699
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia, Episodic ... OMIM:246450
Vipoma
Pituitary adenoma, Secretory diarrhea, Abnormal gastrointestinal motility, Increased circulating ... ORPHA:97282
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Visceral angiomatosis, Retinal telangiectasia, Esoph... ORPHA:774
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, Pulmonic stenosis, High pa... OMIM:617137
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Menke-Hennekam Syndrome 2
Duodenal ulcer, Chronic constipation OMIM:618333
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Hyperuricemia, Hyperalaninemia, Reye syndrome-li... ORPHA:348
Analbuminemia
Hypotension OMIM:616000
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Protracted diarrhea, Chronic noninfectious lymphadenopathy, Bowel urg... ORPHA:97287
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ungual fibroma, Ascites, Pulmonary lymphang... ORPHA:538
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Hyperbilirub... ORPHA:69665
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr... ORPHA:394
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Oligohydramnios, Peritonitis, Abd... OMIM:619351
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... OMIM:619472
Neuroblastoma, Susceptibility To, 1
Anemia, Abdominal pain, Diarrhea OMIM:256700
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Infantile Systemic Hyalinosis
Malabsorption, Recurrent bacterial infections, Polycystic ovaries, Abnormality of the gastrointes... ORPHA:2176
Infant Botulism
Hypotension, Dysphagia, Anorexia, Cardiac arrest, Hypertension ORPHA:178478
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Decreased HDL cholesterol concent... ORPHA:355
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypertension, Emotional lability, Nephrolithiasis OMIM:219090
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Conjugated hyperbilirubinemia OMIM:619484
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons... ORPHA:3463
Urachal Cyst
Leukocytosis, Abscess, Peritonitis, Severe infection, Elevated circulating C-reactive protein con... ORPHA:488
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Polyhydramnios, Microcolon, Abdominal distention OMIM:619362
Scrub Typhus
Myocarditis, Hypotension, Renal insufficiency ORPHA:83317
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Increased circulating free fatty acid l... OMIM:610768
Neuroblastoma
Increased circulating ferritin concentration, Lymphadenopathy, Thrombocytopenia, Abdominal disten... ORPHA:635
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Increased circulating ... ORPHA:2905
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Diarrhea, Urinary bladder inflammation, Fasciitis, Pancytope... ORPHA:99921
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Diarrhea, Recurrent otitis media, Splenomegaly, Mac... OMIM:252940
Trichohepatoneurodevelopmental Syndrome
Recurrent infections, Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Recurren... OMIM:618268
Amyloidosis, Hereditary Systemic 1
Diarrhea, Episodic vomiting, Constipation OMIM:105210
Unilateral Polymicrogyria
Epistaxis, Nasogastric tube feeding, Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Wild Type Attr Amyloidosis
Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence, Intermittent diarrhea ORPHA:330001
Neonatal Inflammatory Skin And Bowel Disease
Blepharitis, Chapped lip, Anal fissure, Perianal dermatitis, Psoriasiform dermatitis, Recurrent g... ORPHA:294023
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... OMIM:606002
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation OMIM:608643
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Cervical lymphadenopathy, Gangl... ORPHA:653
Abetalipoproteinemia
Hypoalbuminemia, Vomiting, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipo... ORPHA:14
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Acrodermatitis Enteropathica
Cheilitis, Furrowed tongue, Malabsorption, Pustule, Anorexia, Conjunctivitis, Glossitis, Chronic ... ORPHA:37
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Otitis media, Constipation, High palate, Intermittent diarrhea, Feeding difficulties OMIM:618050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Portal hypertension, Esophageal varix, Hematemesis, Hypertension, Dehydration OMIM:263200
Farber Disease
Recurrent upper respiratory tract infections, Hepatic failure, Hepatosplenomegaly, Lymphadenopath... ORPHA:333
Cockayne Syndrome Type 1
Diarrhea, Cryptorchidism, Increased blood urea nitrogen, Anemia, Conjunctivitis, Uveitis ORPHA:90321
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal ... ORPHA:466650
Leptospirosis
Uveitis, Diarrhea, Hepatitis, Nausea and vomiting, Skin rash, Abdominal pain, Optic neuritis, Lym... ORPHA:509
Trichinellosis
Increased circulating IgE level, Skin rash, Nausea, Conjunctivitis, Meningitis, Dysphagia ORPHA:863
Melas
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Anemia, Constipa... ORPHA:550
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Abdominal distention, Oral-pharyngeal dysphagia, Gastrointestinal dysmotility... ORPHA:2131
Aapoaiv Amyloidosis
Paraproteinemia, Elevated circulating creatinine concentration, Abnormality of the gastrointestin... ORPHA:439232
Dubowitz Syndrome
Recurrent infections, Anal stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Malabsorp... ORPHA:235
Rothmund-Thomson Syndrome
Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Neutropenia, Calcinosis, Leuk... ORPHA:2909
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Vomiting, Hepatitis, Recurrent otitis media, Elevated circulating creatine kinase co... OMIM:614921
Rothmund-Thomson Syndrome Type 1
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221008
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Aganglionic megacolon, Arrhythmia, Constipation, Abdominal pain ORPHA:163746
Monosomy 18Q
Secondary growth hormone deficiency, High palate, Decreased circulating IgA level, Bilateral cryp... ORPHA:1600
Rothmund-Thomson Syndrome Type 2
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221016
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Celiac disease, Lymphedema, Failure to ... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Celiac disease, Lymphedema, Failure to ... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Celiac disease, Lymphedema, Failure to ... ORPHA:99226
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Celiac disease, Lymphedema, Failure to ... ORPHA:881
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Recurrent pneumonia, Ascites, Feeding di... ORPHA:731
Nijmegen Breakage Syndrome
Anal stenosis, Acute leukemia, Recurrent pneumonia, Recurrent respiratory infections, Autoimmune ... ORPHA:647
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur... ORPHA:77261
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Oral leukoplakia, Esophageal stricture OMIM:613990
17Q11 Microdeletion Syndrome
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Hypertrophic cardiomyopath... ORPHA:97685
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Sepsis, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Inflammatory abnormality of t... ORPHA:95455
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Acute Liver Failure
Acute kidney injury, Depression, Gastrointestinal hemorrhage, Hypotension, Shock, Confusion, Emot... ORPHA:90062
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Cryptorchidism, Chronic constipation, Feeding difficulties in infancy, C... ORPHA:500055
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Abnormal fear-... ORPHA:353281
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Gastric ulcer OMIM:208060
Hellp Syndrome
Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob... ORPHA:244242
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Chronic diarrhea, Episodic abdominal pain OMIM:268800
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis OMIM:213700
Chikungunya
Vomiting, Diarrhea, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythe... ORPHA:324625
Congenital Enterovirus Infection
Myocarditis, Hypotension, Cardiomyopathy, Irritability ORPHA:292
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Lip telangiectasia, Raynaud phenomenon, Eryth... OMIM:613471
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Familial Gestational Hyperthyroidism
Diarrhea, Thyroid hyperplasia, Goiter ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Thyroid hyperplasia, Goiter ORPHA:424
Bardet-Biedl Syndrome
Inflammation of the large intestine, Cardiomyopathy, Obesity, Otitis media, Aganglionic megacolon... ORPHA:110
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Submucous cleft hard palate, High palate, Chronic diarrhea, Pyloric stenosis ORPHA:457279
Williams Syndrome
Nausea and vomiting, Mitral regurgitation, Periorbital edema, Abdominal pain, Rectal prolapse, Ch... ORPHA:904
Glycogen Storage Disease Ia
Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Protuberant abdomen, Intermittent diarrhea, He... OMIM:232200
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Hypokalemia, Constipation, Hemolytic anemia, Poor appetite ORPHA:18
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Diarrhea, Acute hepatic failure, Reye syndrome-like episodes, Abdomina... OMIM:256810
Ogden Syndrome
Recurrent infections, Narrow palate, Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Rec... OMIM:300855
22Q11.2 Deletion Syndrome
Acne, Hypertensive crisis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Chronic otitis m... ORPHA:567
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... OMIM:619004
Pituitary Apoplexy
Confusion, Hypotension, Hypertension ORPHA:95613
Spondyloocular Syndrome
Lymphedema, Duodenal ulcer, Decreased body weight OMIM:605822
Gitelman Syndrome
Hypermagnesemia, Diarrhea, Hypomagnesemia, Nausea and vomiting, Gout, Hypocalcemia, Hashimoto thy... ORPHA:358
Pde4D Haploinsufficiency Syndrome
Hypotension, Hypospadias ORPHA:439822
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypo... OMIM:601678
Hurler Syndrome
Splenomegaly, Rhinitis, Macroglossia, Recurrent respiratory infections, Chronic diarrhea, Feeding... ORPHA:93473
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Malabsorption, Splenomegaly, Otitis media, Constipat... ORPHA:581
Hypoplasminogenemia
Duodenal ulcer, Periodontitis, Cervicitis ORPHA:722
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Chronic constipation, Thrombocytopenia, High palate, Chronic diarrhea, Decreased ... OMIM:619005
Alexander Disease
Self-injurious behavior, Hypotension, Depression, Emotional lability, Hypertension, Sudden cardia... ORPHA:58
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Osteomyelitis, Malabsorption, Nausea and vomi... ORPHA:565
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Chronic diarrhea, Thrombocytopenia OMIM:620072
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalem... OMIM:241200
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin, Irritability ORPHA:2135
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Diarrhea, Vomiting, Villous atrophy, Hypoplastic nipples, H... ORPHA:79328
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Hypotension, Penoscrotal hypospadias, Hypospadias ORPHA:90791
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Secretory diarrhea OMIM:167100
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... ORPHA:2152
Cysticercosis
Iridocyclitis, Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased cir... ORPHA:1560
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Abnormal lymph node m... ORPHA:99889
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Cholelithiasis, Diarrhea, Intestinal pseudo-obstruction, Oral-p... ORPHA:273
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer, Arthritis OMIM:161700
Scorpion Envenomation
Vomiting, Diarrhea, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circ... ORPHA:466677
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Vomiting, Failure to thrive, Malnutrition, Nausea, Abdominal pain OMIM:229600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Abnormal fear-... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Abnormal fear-... ORPHA:353277
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Recurrent pneumonia, Sepsis, Anoperineal fistula, Chapped lip, Abnormal tongue morphol... ORPHA:158668
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Urogen... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Hypotension, Hypernatriuria, Abnormal urine potassium concentration, Urogen... ORPHA:289548
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infections, Decreased respo... OMIM:615873
Aspartylglucosaminuria
Diarrhea, Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia, Macroglossia, Ma... OMIM:208400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Recurrent pneumonia, Bruising susceptibility, Congestive heart failu... OMIM:225400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Decreased circulating IgG level, Gastroesophageal reflux, Gastroparesis, Secretory I... ORPHA:500150
African Trypanosomiasis
Myelitis, Vomiting, Diarrhea, Keratitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Lympha... ORPHA:3385
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Polysplenia, Supernumerary nipple, Increased circulating IgE level, Cryptorc... ORPHA:373
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Gastroesophageal reflux, Chronic diarrhea, Feeding difficulties in infancy ORPHA:3164
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Dysphagia... OMIM:606721
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Hiatus hernia, High palate, Chronic diarrhea, ... OMIM:304150
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Splenomegaly, Arthritis, Macrog... ORPHA:217085
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Malabsorption, Hypokalemia, Bicarbonaturia ORPHA:47159
Coffin-Siris Syndrome 1
Intestinal malrotation, Hemangioma, Feeding difficulties in infancy, High palate, Duodenal ulcer,... OMIM:135900
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Splenomegaly, Arthritis, Macrog... ORPHA:217093
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Capillary hemangioma, Exocrine pancreatic i... ORPHA:508488
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Recurrent upper respiratory tract infections, Splenomegaly, Macroglossia, Chr... ORPHA:580
Zttk Syndrome
Bifid uvula, Absent gallbladder, Submucous cleft hard palate, Feeding difficulties in infancy, In... OMIM:617140
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Long penis, Hypernatriuria, Shock, Urogenital sinus anomaly, Renal salt wasting, Ele... ORPHA:90794
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Intestinal malrotation, Exocrine pancreatic i... ORPHA:2255
Prolactinoma
Hypotension ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Nmda Receptor Encephalitis
Diarrhea, Vomiting, Testicular teratoma, Ovarian teratoma ORPHA:217253
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea ORPHA:909
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

Histopathology

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

There is no histopathology data for Nlrp6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nlrp6.

No publications found that use IMPC mice or data for Nlrp6.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Nlrp6tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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