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Gene: Mmp7 MGI:103189

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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:
matrix metallopeptidase 7
Synonyms:
matrilysin,  MAT

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 Mmp7 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 Mmp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Retinitis Pigmentosa 29
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... ORPHA:141152
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Rabies
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia ORPHA:770
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... ORPHA:388
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Weight loss ORPHA:52416
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Feeding difficulti... ORPHA:45452
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in... OMIM:615767
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Attrv30M Amyloidosis
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Tachycardia, Increased fecal coproporp... OMIM:121300
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Failure ... OMIM:608971
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100082
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... OMIM:617638
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... ORPHA:100080
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive OMIM:615863
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal ... ORPHA:103907
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... ORPHA:263665
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Immunodeficiency 76
Chronic diarrhea, Colitis, B-cell lymphoma, Recurrent pneumonia OMIM:619164
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... ORPHA:330001
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... ORPHA:100075
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... OMIM:619281
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Anorexia, Weight loss ORPHA:2023
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... OMIM:616050
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Abdominal pain, Malabsorption, Diar... ORPHA:2070
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Malabsorption, Abdominal pain OMIM:222900
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Immunodeficiency 48
Failure to thrive, Pneumonia, Diarrhea, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the ... ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... OMIM:300635
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, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Chronic ot... ORPHA:33355
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Oral-pharyngeal dysphagia, Anorexia, Weight loss, Neuroendocrine neoplasm ORPHA:100083
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Nathalie Syndrome
Abnormal EKG OMIM:255990
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... OMIM:618394
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D... ORPHA:67
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr... ORPHA:3282
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Nephroblastoma
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm,... ORPHA:654
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Failure to thrive secondary to... OMIM:601457
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm ... ORPHA:2221
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Furrowed tongu... ORPHA:2930
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ... OMIM:616069
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Cachexia, Abdominal pain, Testicular neoplasm, Abd... ORPHA:83469
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased cir... ORPHA:277
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... ORPHA:98813
Lynch Syndrome
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... ORPHA:144
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Anorexia, Lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... ORPHA:100078
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... ORPHA:913
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... ORPHA:436159
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm ORPHA:168811
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Brunner Syndrome
Diarrhea OMIM:300615
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neoplasm, Constipation ORPHA:168816
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... ORPHA:810
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Malabsorption ORPHA:83620
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Encopresis, Diarrhea, O... ORPHA:589821
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent sinu... OMIM:240500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Feeding difficulties in infancy, Left ventricular outflow tract obstruction, Shortened PR interva... ORPHA:308552
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Absent isohemagglutinin level, Recurrent otitis media, Failure to t... OMIM:613501
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Tachycardia, Peptic ulcer, Myelodysplasia, Abdominal pain, Hematological ... ORPHA:98849
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Nausea, Congestive heart failure, Weight los... ORPHA:94080
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... ORPHA:99745
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-cell lymphom... OMIM:619381
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Cachexia,... ORPHA:298
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties ORPHA:157973
Carcinoid Syndrome
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... ORPHA:100093
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Tuberculosis
Weight loss ORPHA:3389
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Decreased circulatin... ORPHA:99867
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... ORPHA:79102
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ... ORPHA:324964
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... ORPHA:79319
Takayasu Arteritis
Increased inflammatory response, Myocardial infarction, Anorexia, Vasculitis, Weight loss, Hypert... ORPHA:3287
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Schwannoma, Weight loss, ... ORPHA:221098
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Dysphagia, Weight loss ORPHA:50251
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Lymphoproliferative disorder, Neoplasm by a... ORPHA:33276
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... ORPHA:229717
Glutaric Aciduria Iii
Hypertension, Diarrhea, Failure to thrive, Vomiting OMIM:231690
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Portal hypertension, Abdominal pa... ORPHA:98850
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Hypotension, Multiple myeloma, ... ORPHA:188
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
American Trypanosomiasis
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Galactose Epimerase Deficiency
Nausea and vomiting, Feeding difficulties, Weight loss ORPHA:79238
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Functional intestinal obstruction, Intestinal pse... ORPHA:1333
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Cereb... ORPHA:927
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Chronic diarrhea... OMIM:301220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Spontaneous Periodic Hypothermia
Nausea and vomiting, Arrhythmia, Skin rash, Diarrhea ORPHA:29822
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Diarrhea ORPHA:49827
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Dysphagia, Cardiomyopathy ORPHA:1177
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Poor appetite, Bowel urg... ORPHA:97287
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... ORPHA:90068
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Sepsis In Premature Infants
Tachycardia, Increased circulating interleukin 6 concentration, Small for gestational age, Abdomi... ORPHA:90051
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas... ORPHA:143
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Agammaglobulinemi... OMIM:300400
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Weig... ORPHA:767
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, Intracranial he... ORPHA:449285
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Weight loss, E... ORPHA:100085
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythrod... ORPHA:169160
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive OMIM:264350
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Gingival fibromatosis OMIM:228600
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Weight loss, Neoplasm of the lung, Pheochromocytoma, D... ORPHA:1332
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis, Decreased circulating antibody level OMIM:613101
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Abdominal pain, Pulmonary embolism, Malabsorption, Diarrhea, Decreased ci... OMIM:226300
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Feeding difficulties in infancy, Congestive h... ORPHA:60041
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Achalasia, Tracheobronchial leiomyomatos... ORPHA:1018
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Chronic oral candidia... OMIM:615592
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Bloody diarrhea, Feeding difficulties OMIM:615119
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... OMIM:176000
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... ORPHA:31825
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations OMIM:133020
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... OMIM:131100
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... ORPHA:1329
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Thrombotic Thrombocytopenic Purpura
Diarrhea, Arrhythmia, Myocardial infarction, Abdominal pain ORPHA:54057
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... ORPHA:2137
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Liposarcoma
Nausea and vomiting, Abdominal pain, Sarcoma, Weight loss ORPHA:69078
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin... OMIM:209950
Graft Versus Host Disease
Myositis, Tachycardia, Fasciitis, Maculopapular exanthema, Pneumonia, Abdominal pain, Inflammator... ORPHA:39812
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi... ORPHA:727
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... ORPHA:90038
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Hypertension, Neuroblastoma, Failure... OMIM:256700
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97278
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Decrease... OMIM:619510
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... ORPHA:171876
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary ... ORPHA:70591
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... OMIM:617718
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating... OMIM:619802
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Grfoma
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 46
Chronic diarrhea, Decreased circulating antibody level, Conjunctivitis, Chronic oral candidiasis,... OMIM:616740
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... ORPHA:398063
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Pneumonia, Nausea, Abdominal pa... ORPHA:544482
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:228371
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr... ORPHA:91139
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bra... ORPHA:66529
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Hypotens... ORPHA:79455
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea ORPHA:352447
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive OMIM:177735
Immunodeficiency 22
Pericarditis, Failure to thrive, Diarrhea, Capillary leak, Protracted diarrhea, Decreased circula... OMIM:615758
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Dilated cardiomyopathy... OMIM:618805
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Increased circulating IgA le... ORPHA:343
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormality of the gastrointestinal tract, Gastropares... ORPHA:85443
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... ORPHA:2126
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs... ORPHA:85450
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Immunodeficiency 19
Recurrent otitis media, Chronic diarrhea, Failure to thrive OMIM:615617
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Diarrhea, Cardiomyopathy, Mitral regurgitation, Vomiting, Hypertrophic ... OMIM:212140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... OMIM:242860
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas... ORPHA:99880
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Skin rash, Abdominal pain, Increased circulating IgA level, Diarrhe... OMIM:617099
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Necrotizing Enterocolitis
Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, V... ORPHA:391673
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D... ORPHA:3261
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Immunodeficiency 56
Cholangitis, Hepatic failure, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogamma... OMIM:615207
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Decreased ... ORPHA:540
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, B Acute Lymphoblastic Leukemia, Chronic diarrhea, Recurrent pneumonia, Agammag... OMIM:619824
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Nausea, Conge... ORPHA:276621
Immunodeficiency, Common Variable, 1
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Conjun... OMIM:607594
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Bowel incontinence, Feeding difficulties in infancy, Vasculitis, Short... ORPHA:365
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Cachexia, Anorexia, M... ORPHA:3452
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... OMIM:201475
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... OMIM:614699
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Abdominal pain, Dia... ORPHA:486
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Chronic ... OMIM:615895
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... ORPHA:29207
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Failure to thrive, Fat malabsorption, Epistaxis OMIM:211600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Ecz... ORPHA:391487
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97283
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:1842
Classic Hodgkin Lymphoma
Skin rash, Poor appetite, Anorexia, Lymphoma, Weight loss, Neoplasm ORPHA:391
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Immunodeficiency 69
Diarrhea, Failure to thrive, Skin rash OMIM:618963
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Col... OMIM:203300
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... ORPHA:79456
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... ORPHA:276152
Huntington Disease-Like 2
Weight loss ORPHA:98934
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... ORPHA:75233
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Celiac Disease, Susceptibility To, 1
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Thyroiditis, We... OMIM:212750
Rett Syndrome
Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Myoc... ORPHA:342
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Vasculitis, Increased circulating I... ORPHA:83313
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea ORPHA:85445
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Vomiting, Protein-losing enteropathy, Steatorrhea, Fa... OMIM:602579
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... ORPHA:79327
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... ORPHA:142
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chronic diarrhea, ... OMIM:619858
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Ganglioneuroblastoma, Neoplasm of the nervous syste... ORPHA:2151
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level, Recurrent otitis m... OMIM:618495
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-... ORPHA:90363
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Disseminated cutaneous warts, C... ORPHA:90362
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity OMIM:614947
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebra... ORPHA:29072
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... ORPHA:3208
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... ORPHA:36397
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Weight loss, Ne... ORPHA:90003
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... ORPHA:97280
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Lassa Fever
Shock, Nausea and vomiting, Abdominal pain, Diarrhea, Increased circulating IgM level, Conjunctiv... ORPHA:99824
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, ... OMIM:607765
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Bronchiectasis, Weight loss ORPHA:1164
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, M... ORPHA:100924
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Decreased circulating antibody level, Gastroe... ORPHA:90045
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Failure to thrive, Increased circulating antibody level OMIM:615285
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Lymphoproliferative... ORPHA:276
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,... ORPHA:199299
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasis, Macroglossi... OMIM:618523
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Erythroderma, Poor appetite, Weight loss ORPHA:312
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec... ORPHA:331235
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdominal pain, Vomiting... ORPHA:361
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis... ORPHA:906
Erythrokeratodermia Variabilis
Skin rash, Neoplasm of the skin, Weight loss ORPHA:317
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Vasculitis, Skin rash OMIM:601979
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Small for gestational age, Hepatoblastoma, Gastritis, Bloo... ORPHA:84064
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Acute leukemia, Intracranial hemorrhage, Weight loss, Myeloproliferative dis... ORPHA:3226
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Decreased specific anti-polysaccharide antibody level, Esophageal varix, Inflam... OMIM:614576
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Atrial fibrillation, Keratitis, Congestive heart failure, Diar... ORPHA:525731
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea OMIM:235555
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Arrhythmia, Dilated cardiomyopathy, Nausea OMIM:615084
Acrodermatitis Enteropathica
Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Weight l... ORPHA:37
Vipoma
Nausea and vomiting, Neoplasm of the pancreas, Follicular thyroid carcinoma, Poor appetite, Anore... ORPHA:97282
Gitelman Syndrome
Prolonged QT interval, Nausea and vomiting, Neoplasm of the pancreas, Hashimoto thyroiditis, Abdo... ORPHA:358
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Dysphagia ORPHA:97229
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver function, F... OMIM:608104
Imerslund-Gräsbeck Syndrome
Tachycardia, Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to th... ORPHA:35858
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Hepati... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Idiopathic Bronchiectasis
Acute infectious pneumonia, Cachexia, Bronchiectasis, Myocardial infarction ORPHA:60033
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Brain neoplasm, Anorexia, Abdominal distention, Sp... ORPHA:370348
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hepatitis, Steatorrhea, Hematochezia, Acholic stools, Hepatic failure, Failure to thrive OMIM:613812
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Inflammatory abnormality of the skin, Small for gestational a... ORPHA:26793
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, W... ORPHA:139402
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... ORPHA:549
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Epistaxis, Eczema, Increased circulating IgA level, Hematemesis, Di... OMIM:301000
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Lymphoma, Uveitis, Arthri... ORPHA:36412
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Infectious encephalitis, Nep... ORPHA:2552
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... OMIM:610768
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection o... OMIM:613489
Isaacs Syndrome
Weight loss ORPHA:84142
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... ORPHA:427
Plague
Glossitis, Chapped lip, Tachycardia, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadeni... ORPHA:707
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... ORPHA:331
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... ORPHA:275761
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... OMIM:617788
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Abnormal large i... ORPHA:109
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Congestive heart failure, Diarrh... ORPHA:33226
Cholesteryl Ester Storage Disease
Acute hepatic failure, Portal hypertension, Diarrhea, Hepatic failure, Esophageal varix, Vomiting... OMIM:278000
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Small for gestational age, Necrotizing enterocolitis, Dilate... OMIM:619573
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Neoplasm of the adrenal gland, Intracranial hemorrhage, Hypertension, Palpitations, Ab... ORPHA:231625
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... ORPHA:77297
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Anorexia, Oral-pharyng... ORPHA:2131
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Increased circulating IgE level, H... OMIM:304790
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Dilated ... ORPHA:71212
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Portal hypertension, Diarrhea, Chronic mucocutaneous candidiasis, A... ORPHA:79124
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, My... ORPHA:36426
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Diarrhea, Hepatitis, Ch... OMIM:308230
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Portal hypertension, Abdominal pain, Congestive heart failure, Weight loss, C... ORPHA:465508
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Portal hypertension, Spider hemangioma, Abdominal pain... ORPHA:171
Graves Disease, Susceptibility To, 1
Congestive heart failure, Weight loss OMIM:275000
Immunodeficiency 17
Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anope... OMIM:615607
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Diarrhea, Feeding difficulties OMIM:255120
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Dextrocardia
Abnormal EKG, Intestinal malrotation, T-wave inversion, Neuroblastoma, Meckel diverticulum ORPHA:1666
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Pericarditis, Fasciitis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, D... ORPHA:32960
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Syncope, Orthostatic syncope, Vomiting, Rhinitis ORPHA:230
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:617765
Relapsing Fever
Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Vomiting, Hypotension ORPHA:91547
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatitis, Malabsorpt... ORPHA:2796
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Raynaud phenomeno... ORPHA:93552
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Vo... OMIM:223900
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss ORPHA:100024
Follicular Lymphoma
Lymphoma, Weight loss ORPHA:545
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Weight loss, Chronic myelogeno... ORPHA:71493
Specific Granule Deficiency 2
Myelodysplasia, Recurrent pneumonia, Recurrent otitis media, Intractable diarrhea, Failure to thrive OMIM:617475
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Lymphoma, Synovitis, Weight loss, Art... ORPHA:47612
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, Hypertensio... ORPHA:79259
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Vasculitis, Weight loss,... ORPHA:397
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Vomiting ORPHA:263455
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis, Weight loss ORPHA:411703
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Mulibrey Nanism
Cachexia ORPHA:2576
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, High, narrow palate, Di... OMIM:162300
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin... ORPHA:160
Galactosemia I
Diarrhea, Failure to thrive, Vomiting, Decreased liver function OMIM:230400
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Neo... ORPHA:100086
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... ORPHA:340
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... ORPHA:860
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... OMIM:610163
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... ORPHA:653
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Acne, Abd... ORPHA:117
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Immunodeficiency 7
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615387
Hyperprolinemia Type 2
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain ORPHA:79101
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par... OMIM:619652
Neonatal Lupus Erythematosus
Prolonged QT interval, Maculopapular exanthema, Skin rash, Heart block, Dilated cardiomyopathy, A... ORPHA:398124
Adrenocortical Carcinoma
Abdominal pain, Adrenocortical carcinoma, Increased body weight, Weight loss, Hypertension, Palpi... ORPHA:1501
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema ORPHA:79242
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... OMIM:150550
Postinfectious Vasculitis
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... ORPHA:48435
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Endocarditis, Abnorma... ORPHA:3093
Cholera
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... ORPHA:173
Huntington Disease-Like 2
Weight loss OMIM:606438
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... OMIM:614162
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurre... OMIM:619644
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Lyme Disease
Nausea and vomiting, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis ORPHA:91546
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Vasculitis, Hepatiti... OMIM:615846
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss OMIM:613239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Focal Myositis
Myositis, Weight loss ORPHA:48918
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab... ORPHA:537
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... OMIM:601675
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Sinusitis, Inflammatory abnormality of the ... OMIM:102700
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Odynophagia, Diarrhe... ORPHA:319213
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re... ORPHA:420741
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Avian Influenza
Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Hepatitis, Conjunctivitis, Vomitin... ORPHA:454836
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... ORPHA:79276
Moynahan Syndrome
Cachexia ORPHA:2574
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin... ORPHA:454831
Colchicine Poisoning
Myocarditis, Congestive heart failure, Diarrhea, Hypovolemia, Vomiting, Hypotension, Cardiogenic ... ORPHA:31824
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... ORPHA:99827
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension ORPHA:134
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduction abnormality, Ga... ORPHA:550
Acute Adrenal Insufficiency
Nausea and vomiting, Orthostatic hypotension, Myocardial infarction, Anorexia, Abdominal pain, Di... ORPHA:95409
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Esophageal varix, Increased body weight, Hepatocellular adenoma, Cardiomyopathy, Vomiti... ORPHA:264580
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Congenital Myopathy 20
Chronic diarrhea, Failure to thrive, High palate OMIM:620310
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... ORPHA:900
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Lung adenocarcinoma, Feeding dif... ORPHA:221
Leishmaniasis
Rhinitis, Increased circulating antibody level, Anorexia, Weight loss ORPHA:507
Gm1 Gangliosidosis
Congestive heart failure, Weight loss, Feeding difficulties, Cardiomyopathy, Macroglossia, Gastro... ORPHA:354
B4Galt1-Cdg
Inflammatory abnormality of the skin, Small for gestational age, Diarrhea ORPHA:79332
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Pneumocystosis
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neoplasm, Increased circulatin... ORPHA:723
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Hashimoto thyroiditis, Dysphagia ORPHA:94125
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Tropical Pancreatitis
Pancreatic adenocarcinoma, Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, ... ORPHA:103918
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation, Cachexia ORPHA:52503
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Abdominal p... ORPHA:466677
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Failure to thrive, Vomiting OMIM:560000
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Failure to thrive, Villous atrophy, Feeding difficulties in infancy, Diarrhea, Card... OMIM:212065
Steinert Myotonic Dystrophy
Brain neoplasm, Prolonged QRS complex, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, ... ORPHA:273
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... OMIM:260920
Brucellosis
Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious encephalitis... ORPHA:1304
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Failure to thrive, Colitis, Pancreatitis OMIM:615947
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Malabsorption, Atypical or prolonged hepatitis, Diarrhea, Thyroiditis, Ecze... ORPHA:83471
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Feeding difficulties in infancy, Gastrointestinal dysmotilit... ORPHA:480864
Addison Disease
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,... ORPHA:85138
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea ORPHA:71273
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Classic Galactosemia
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties ORPHA:79239
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele... ORPHA:90041
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:602473
Juvenile Huntington Disease
Weight loss ORPHA:248111
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... ORPHA:49041
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated card... ORPHA:20
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea, Portal hypertension OMIM:619849
Blue Diaper Syndrome
Diarrhea, Increased body weight ORPHA:94086
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Caroli Disease
Cholangiocarcinoma, Cholangitis, Anorexia, Portal hypertension, Abdominal pain, Esophageal varix,... ORPHA:53035
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia, Asymmetric septal hypertrophy OMIM:252930
Renpenning Syndrome
High, narrow palate, Cleft palate, Cachexia, Anal atresia ORPHA:3242
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosar... OMIM:251260
Mucopolysaccharidosis, Type Iiib
Diarrhea, Asymmetric septal hypertrophy OMIM:252920
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Testicular te... ORPHA:764
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Portal hypertension, Gastrostomy tube feeding in infancy, Feeding d... OMIM:613385
Transcobalamin Ii Deficiency
Failure to thrive, Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG... OMIM:275350
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Thymoma, Decreased circulating an... ORPHA:169105
Dominant Beta-Thalassemia
Failure to thrive in infancy, High-output congestive heart failure, Diarrhea, Dilated cardiomyopa... ORPHA:231226
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorption, Weight loss, Car... ORPHA:79430
Wilson Disease
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... ORPHA:905
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Congestive heart failu... ORPHA:2331
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Mucopolysaccharidosis, Type Iiia
Diarrhea, Asymmetric septal hypertrophy OMIM:252900
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... OMIM:105210
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia, Weight loss ORPHA:216866
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Myelodysplasia, Diarrhea, Functional abnormality of the gastrointestin... ORPHA:221008
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Congestive heart failure, Diarrhea, Recurrent pneumonia, Macroglos... OMIM:309900
Mirage Syndrome
Myelodysplasia, Esophageal stricture, Chronic diarrhea, Intracranial hemorrhage, Gastroesophageal... OMIM:617053
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Vasculiti... ORPHA:781
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Pyoderma, Conju... OMIM:307200
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, P... ORPHA:79128
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil... ORPHA:206436
Rothmund-Thomson Syndrome
Small for gestational age, Telangiectasia of the skin, Skin rash, Myelodysplasia, Nasogastric tub... ORPHA:2909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting OMIM:618321
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Vomiting, Nausea, Internal hemorrhage, Maculopap... ORPHA:99826
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Chronic diarrhea, Hepatitis, Cleft pal... OMIM:614921
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Glycogen Storage Disease Ic
Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg... OMIM:232240
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Dysphagia ORPHA:268
Aicardi-Goutieres Syndrome 9
Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Weight loss, Feeding difficult... OMIM:619487
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Primary Myelofibrosis
Cachexia, Hematological neoplasm, Portal hypertension, Anorexia, Hemangioma ORPHA:824
Acute Promyelocytic Leukemia
Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage, Weight loss, Stomatitis ORPHA:520
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Increased circulating IgE level, Atopic dermatitis, We... ORPHA:2902
Omenn Syndrome
Pneumonia, Chronic diarrhea, Lymphoma, Thyroiditis, Erythroderma, Failure to thrive ORPHA:39041
Malt Lymphoma
Nausea and vomiting, B-cell lymphoma, Abdominal pain, Weight loss, Constipation, Posterior uveitis ORPHA:52417
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Abdominal distention, Chronic diarrhea, Bronchiectasis, Vomiting, Gastro... OMIM:620233
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Narrow palate, High palate, Vo... OMIM:608836
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... ORPHA:556
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Glycogen Storage Disease Ib
Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carc... OMIM:232220
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Failure to thrive, Recurrent aphthous stomatitis OMIM:612782
Mevalonic Aciduria
Failure to thrive, Failure to thrive in infancy, Skin rash, Diarrhea, Vomiting, Morbilliform rash... OMIM:610377
Yellow Fever
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Supraven... ORPHA:99829
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Dyskeratosis Congenita, Autosomal Dominant 2
Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Failure to thrive, Oral leukoplakia OMIM:613989
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Fructose-1,6-Bisphosphatase Deficiency
Reye syndrome-like episodes, Tachycardia, Vomiting, Diarrhea ORPHA:348
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Narrow palate, High palate, Cachexia OMIM:618186
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Peptic ulcer, Multiple lipomas OMIM:145981
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Myelodysplasia, Diarrhea, Lymphoma, Cleft palate, Functional abnormali... ORPHA:221016
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Chronic diarrhea, Increased cir... ORPHA:169154
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased circulat... OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Chr... ORPHA:35078
Mcdonough Syndrome
Cachexia ORPHA:2471
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Nijmegen Breakage Syndrome
Anal stenosis, Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcoma, Chronic diarrhea, Anorectal a... ORPHA:647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive, P... OMIM:600802
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Congestive heart fa... ORPHA:533
Beta-Thalassemia Major
Failure to thrive in infancy, High-output congestive heart failure, Diarrhea, Dilated cardiomyopa... ORPHA:231214
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Weight loss ORPHA:514
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Weight loss ORPHA:411602
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Cold Agglutinin Disease
Nausea and vomiting, Diarrhea ORPHA:56425
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Recurrent pneumonia, Diarrhea, Bronchiectasis, Ileus, Steatorrhe... OMIM:219700
Lysinuric Protein Intolerance
Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to th... OMIM:222700
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Fumarase Deficiency
Necrotizing enterocolitis, Cutaneous leiomyoma, High palate, Hepatic failure, Failure to thrive OMIM:606812
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoid de... OMIM:242700
Congenital Sialidosis Type 2
Abnormal EKG, Protruding tongue, Telangiectasia ORPHA:93400
Alveolar Echinococcosis
Cholangitis, Portal hypertension, Abdominal pain, Weight loss, Increased circulating antibody lev... ORPHA:284
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Anorexia... ORPHA:99889
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bronchiectasis, Recurrent pne... OMIM:300755
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, First degree atrioventricular block, Anorexia, Abdo... ORPHA:509
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Ataxia-Telangiectasia
Conjunctival telangiectasia, Decreased circulating IgG level, Failure to thrive, Sinusitis, Chron... OMIM:208900
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... OMIM:181000
Huntington Disease-Like 1
Weight loss ORPHA:157941
Klatskin Tumor
Cholangiocarcinoma, Abdominal pain, Weight loss ORPHA:99978
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Malnutrition, Fat malabsorption, Decreased body weight ORPHA:96180
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... OMIM:608710
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction OMIM:213700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Diarrhea OMIM:619313
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Diarrhea, Decreased circulating antibody level... ORPHA:221139
Pelizaeus-Merzbacher Disease
Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C... ORPHA:813
Shwachman-Diamond Syndrome 2
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Citrullinemia Type Ii
Decreased body mass index, Diarrhea, Vomiting, Hepatocellular carcinoma, Pancreatitis ORPHA:247585
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted dia... ORPHA:331206
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, Hepatocellular carcinoma, Nausea ORPHA:79240
Insulin-Resistance Syndrome Type B
Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Biotinidase Deficiency
Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesopha... ORPHA:500055
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Poor appetite OMIM:201100
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Cockayne Syndrome Type 1
Diarrhea, Uveitis, Hypertension, Conjunctivitis, Failure to thrive ORPHA:90321
Mucopolysaccharidosis, Type Iiid
Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitation, Tube feed... OMIM:252940
Igg4-Related Kidney Disease
Lymphadenitis, Lymphocytoma cutis, Increased circulating IgG level, Tubulointerstitial nephritis,... ORPHA:449395
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, High palate, Obesity, Weight loss ORPHA:251071
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... OMIM:557000
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... OMIM:158310
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Weight loss, Mitral regurgi... OMIM:607459
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, ... ORPHA:436252
Omenn Syndrome
Diarrhea, Failure to thrive, Pneumonia, Erythroderma OMIM:603554
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media, Failure to thrive, Pa... OMIM:602450
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Poems Syndrome
Lymphoproliferative disorder, Weight loss, Increased circulating antibody level, Pulmonary arteri... ORPHA:2905
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Osteosarcoma
Weight loss ORPHA:668
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Peptic ulcer, Multiple lipomas OMIM:600740
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Vomiting, Atopic dermatitis ORPHA:3240
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Recurre... ORPHA:980
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi... ORPHA:576
Diamond-Blackfan Anemia 21
Aortic regurgitation, Chronic diarrhea, Obesity, Osteosarcoma OMIM:620072
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Congestive heart failure, Weight loss ORPHA:35687
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Diarrhea, Weight lo... ORPHA:3385
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... ORPHA:99921
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Small for gestational age, Decreased circulating antibody ... OMIM:222470
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... OMIM:618183
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... ORPHA:99228
Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Celiac disease, High,... ORPHA:881
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Chronic diarrhea, Chronic constipation, High palate, Decreased ... OMIM:619005
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Dysphagia OMIM:616457
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t... OMIM:256810
Immunodeficiency 47
Tricuspid regurgitation, Chronic diarrhea, Decreased circulating antibody level, Decreased circul... OMIM:300972
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype... OMIM:164310
Deeah Syndrome
Decreased heart rate variability, Malabsorption, Chronic diarrhea, Narrow palate, Dysphagia, Chro... OMIM:619004
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea ORPHA:90035
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain OMIM:268800
Glycogen Storage Disease Ia
Gout, Hypertension, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancrea... OMIM:232200
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Diarrhea OMIM:235400
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Dubowitz Syndrome
Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Chronic diarrhea, Submucou... OMIM:223370
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Aredyld Syndrome
Refractory anemia with ringed sideroblasts, Cachexia ORPHA:1133
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Cystic Echinococcosis
Abdominal symptom, Membranous nephropathy, Increased circulating antibody level, Weight loss ORPHA:400
Chikungunya
Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema nodosum, Diarrhea, Cr... ORPHA:324625
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Feeding difficulties ORPHA:217346
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1 OMIM:300953
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis ORPHA:405
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Nausea, Hepatic failure, Vomiting, ST segment depression, Hypotension, Dec... ORPHA:466650
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive ORPHA:47159
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Japanese Encephalitis
Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Increased circulating antibo... ORPHA:79139
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:614441
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hyperten... ORPHA:91347
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Chronic diarrhea, ... ORPHA:99843
Williams Syndrome
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car... ORPHA:904
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Trichohepatoneurodevelopmental Syndrome
Chronic diarrhea, Steatorrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High ... OMIM:618268
Mucopolysaccharidosis Type 3
Malabsorption, Atrioventricular block, Dysphagia, Macroglossia, Reduced left ventricular ejection... ORPHA:581
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczema, Myelodysplasia OMIM:617827
Ogden Syndrome
Eczema, Diarrhea, Ventricular tachycardia, Narrow palate, Premature ventricular contraction, Feed... OMIM:300855
Hurler Syndrome
Angina pectoris, Chronic diarrhea, Feeding difficulties, Macroglossia, Cardiomyopathy, Hypertensi... ORPHA:93473
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis OMIM:116920
Abetalipoproteinemia
Congestive heart failure, Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorrhea, Fa... ORPHA:14
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Failure to thrive, Recurrent infection of the ... OMIM:612132
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Failure to thrive in infancy, Poor appetite, Diarrhea, Decreased cir... ORPHA:247598
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Failure to thrive, Feeding difficulties, Dysphagia OMIM:620358
Bartter Syndrome, Type 1, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... OMIM:601678
Dubowitz Syndrome
Anal stenosis, Eczema, Malabsorption, Rectal prolapse, Chronic diarrhea, Submucous cleft hard pal... ORPHA:235
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Diarrhea, Vomiting, Gastroesophageal reflux, Bifid uvula ORPHA:79328
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Abdominal distention, Diarrhea, Malnutrition, Dependency on... OMIM:619991
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Ne... ORPHA:217253
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... OMIM:606721
Perry Syndrome
Weight loss OMIM:168605
Multiple Myeloma
Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Decreased ... ORPHA:29073
Lysinuric Protein Intolerance
Glomerulonephritis, Diarrhea, Hepatic failure, Decreased circulating antibody level, Feeding diff... ORPHA:470
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Fanconi Anemia
Aganglionic megacolon, Myelodysplasia, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula... ORPHA:84
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... ORPHA:85408
Farber Disease
Failure to thrive, Chronic diarrhea, Feeding difficulties, Arthritis, Hepatic failure ORPHA:333
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Vasculitis,... ORPHA:50918
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... ORPHA:2020
Plasminogen Deficiency, Type I
Nephritis, Conjunctivitis, Periodontitis, Duodenal ulcer OMIM:217090
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Intracranial hemorrhage, Vomi... ORPHA:90062
Xfe Progeroid Syndrome
Hypertension, Failure to thrive, Cachexia OMIM:610965
Sarcoidosis
Abnormality of the gastrointestinal tract, Abnormal cardiac ventricular function, Maculopapular e... ORPHA:797
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Chronic diarrhea, Episodic vomiting, Obesity, Heart murmur, Feeding difficul... OMIM:615873
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... OMIM:241200
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... ORPHA:79078
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Pearson Syndrome
Median cleft lip and palate, Small for gestational age, Cardiac conduction abnormality, Chronic d... ORPHA:699
X-Linked Intellectual Disability, Cabezas Type
High palate, Obesity, Cachexia ORPHA:85293
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Occipital Horn Syndrome
Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Chronic diarrhea, Bladder carcinom... OMIM:304150
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Cleft palate, Odontogenic neoplasm, High palate, Decre... ORPHA:800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Failure to thrive, Feeding difficulties OMIM:618278
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... ORPHA:91500
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Acne, Hypovolemia, Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomit... ORPHA:90794
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Weight loss OMIM:613673
Zttk Syndrome
Aortic regurgitation, Feeding difficulties in infancy, Chronic diarrhea, Submucous cleft hard pal... OMIM:617140
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Failure to thrive ORPHA:444072
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Hypovolemia, Weight loss ORPHA:99885
Stickler Syndrome
Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala... ORPHA:828
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Intestinal malrotation, Feeding difficulties, Pulmonic stenosis, Inter... ORPHA:2255
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... OMIM:619472
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Trisomy 18
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer... ORPHA:2072
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Weight loss, Bronchiectasis, Right ventricular failure ORPHA:60025
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Heart murmur, Cardiomyopathy, Hypertension, Macroglossia, Arthritis, Arrhythmia ORPHA:217085
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Heart murmur, Cardiomyopathy, Hypertension, Macroglossia, Arthritis, Arrhythmia ORPHA:217093
Spondyloocular Syndrome
Duodenal ulcer, Decreased body weight OMIM:605822
Proteus Syndrome
Cachexia, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Retinal hamartoma, Neopl... ORPHA:744
Camurati-Engelmann Disease
Cachexia, Anorexia, Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Slender build ORPHA:1328
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... OMIM:219800
Cockayne Syndrome
Cachexia, Feeding difficulties in infancy, Retinal hemorrhage, Hypertension, Keratoconjunctivitis... ORPHA:191
Marfan Syndrome
Arthralgia/arthritis, Cachexia, Congestive heart failure, High, narrow palate, Cleft palate, Slen... ORPHA:558
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Transient ischemic attack, Gastroparesis, Feeding difficulties in i... ORPHA:500150
Mucopolysaccharidosis Type 2
Chronic diarrhea, Macroglossia, Cardiomyopathy, Hypertension, Hip osteoarthritis, Arrhythmia ORPHA:580
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cleft palate, Gastric ul... OMIM:135900
Choreoacanthocytosis
Protruding tongue, Dilated cardiomyopathy, Weight loss, Arthritis, Dysphagia ORPHA:2388
Aspartylglucosaminuria
Macroglossia, Mitral regurgitation, Acne, Diarrhea OMIM:208400
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Periodontitis ORPHA:722
Seckel Syndrome
Cachexia ORPHA:808
Cerebrotendinous Xanthomatosis
Chronic diarrhea ORPHA:909
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Goodpasture Syndrome
Weight loss, Glomerulonephritis, Pulmonary hemorrhage OMIM:233450
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Norrie Disease
Vascular neoplasm, Neoplasm of the eye, Failure to thrive, Cachexia ORPHA:649

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 Mmp7

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 Mmp7.

No publications found that use IMPC mice or data for Mmp7.

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