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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
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 29
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Lactose Intolerance, Adult Type
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... OMIM:223100
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
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 viral infections, Recurrent protozoan infections OMIM:308220
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob... ORPHA:70482
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morpholog... ORPHA:2198
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... OMIM:266600
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 19
Failure to thrive, Diarrhea, Recurrent otitis media OMIM:615617
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Abnormal QRS complex, Reduced ejection fraction, Supraventricula... ORPHA:45452
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Anorexia, Abnormality of the gastrointestinal tract ORPHA:52416
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Weight loss, Gastrostomy... ORPHA:141152
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Cap Polyposis
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh... ORPHA:160148
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Rectal prolapse, Stercoral ulcer, Episodic abd... ORPHA:209964
Rabies
Diarrhea, Nausea and vomiting, Anorexia, Sudden cardiac death ORPHA:770
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Hematochezia OMIM:613148
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Failure to thrive, Decreased circulating Ig... OMIM:615767
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Abnormal intestine morphology, Failure to thrive, Recurrent otitis media, Increased circulating a... OMIM:618495
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Abnormal intestine morphology, Vomiting, Failure to thrive, Diar... OMIM:606528
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... OMIM:611521
Ficolin 3 Deficiency
Verrucae, Necrotizing enterocolitis OMIM:613860
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Diarrhea OMIM:614102
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Diarrhea, Arrhythmia, Constipation ORPHA:85447
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Ménétrier Disease
Anorexia, Stomach cancer, Vomiting, Helicobacter pylori infection, Nausea, Abnormal gastric mucos... ORPHA:2494
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Idiopathic Achalasia
Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux ORPHA:930
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Tenesmus, Constipati... ORPHA:100082
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Pulmonary Blastoma
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Secretory Component Deficiency
Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Diarrhea, Recurrent otitis media OMIM:613501
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Abnormal intestine morphology, Anorexia, Vomiting, Decreased circulating IgG level, Secret... OMIM:600351
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive, Arthritis, Intractable diarrhea OMIM:613217
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel urgency, Atypi... ORPHA:100080
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Coproporphyria, Hereditary
Hypertension, Vomiting, Tachycardia, Increased fecal coproporphyrin 3, Diarrhea, Abdominal pain, ... OMIM:121300
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Diarrhea OMIM:616069
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... OMIM:619350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Celiac disease, Verrucae, Decre... OMIM:618969
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia, Soft tissue sarcoma ORPHA:2023
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Dyspepsia, Malabsorption, Chronic diarrhea, Abnormal smal... ORPHA:103907
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Gastrointestin... ORPHA:330001
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Constipation, Abnormal gastric mucosa morphology... ORPHA:263665
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Immunodeficiency 76
Chronic diarrhea, B-cell lymphoma, Colitis, Recurrent pneumonia OMIM:619164
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Vomiting, Failure to thrive, Diarrhea, Protein-losing enteropathy OMIM:615863
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Diarrhea OMIM:608971
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau... ORPHA:100075
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Failure to thrive, Decreased circulatin... OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:619281
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant... OMIM:618108
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Skin rash, Enterocolitis, Di... OMIM:616050
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Rhabdoid Tumor
Nausea and vomiting, Hypertension, Neoplasm of the central nervous system, Weight loss, Neoplasm ... ORPHA:69077
Eosinophilic Gastroenteritis
Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe... ORPHA:2070
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
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
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Weight loss, Neoplasm of the larynx, Oral-pharyngeal dysphagia ORPHA:100083
Nathalie Syndrome
Abnormal EKG OMIM:255990
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Hepatiti... OMIM:300635
Reticular Dysgenesis
Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody level, Malab... ORPHA:33355
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Eczema, Colitis, Failure to thrive, Decreased cir... OMIM:608809
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... ORPHA:67
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, Pan... OMIM:601457
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced ejection fracti... ORPHA:542323
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Chronic diarrhe... OMIM:618394
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal... ORPHA:247691
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Diarrhea, Vomiting OMIM:610370
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Sinusitis, Inflammatory abnormality of the skin, Failure to thrive, Recu... ORPHA:277
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea OMIM:614602
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Villous atrophy, Infectious encephalitis, Protracted diarrhea, F... OMIM:209920
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Nephroblastoma
Hypertension, Neoplasm of the lung, Weight loss, Neoplasm, Neoplasm of the liver, Nephroblastoma,... ORPHA:654
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Vomiting, Gastrointestinal dysmotility, Weight loss, Slender build, Intestinal perforat... OMIM:603041
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... OMIM:619445
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Diarrhea, Vomiting OMIM:614265
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Weight loss, Abdominal distention, Neoplasm of the liver, Increased hepatitis B... ORPHA:90003
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis OMIM:616098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Ileal Neuroendocrine Tumor
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Nausea, Functional i... ORPHA:100078
Jejunal Neuroendocrine Tumor
Gastrointestinal obstruction, Right ventricular failure, Tricuspid stenosis, Nausea, Functional i... ORPHA:100077
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Malabsorption, N... ORPHA:2930
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Macroglossia, Weigh... ORPHA:2221
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Malabsorption, A... ORPHA:92050
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss, Lymphoma, Breast carcinoma, B-cell lymphoma ORPHA:86893
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Ovar... ORPHA:83469
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou... OMIM:175500
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Uveitis, Decreased circulating total IgM, Conjunctivitis, Vi... OMIM:614700
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Histiocytoid Cardiomyopathy
Cleft palate, Atrial fibrillation, Vomiting, Ventricular tachycardia, Atrioventricular block, Sup... ORPHA:137675
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Familial Colorectal Cancer Type X
Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neoplasm of the skelet... ORPHA:440437
Immunodeficiency 15B
Chronic diarrhea, Agammaglobulinemia, Decreased circulating antibody level, Failure to thrive OMIM:615592
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Autosomal Agammaglobulinemia
Sinusitis, High palate, Agammaglobulinemia, Bronchiectasis, Failure to thrive, Verrucae, Chronic ... ORPHA:33110
Shigellosis
Myocarditis, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Bloody mucoid diarrhea, Vomiting,... ORPHA:810
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Lactose intolerance, Feeding difficulties in infancy, Eosinophilic microabscess formation in the ... ORPHA:411696
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea, Con... OMIM:612692
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Neoplasm, Abdominal pain, Constipation ORPHA:168816
Lynch Syndrome
Ovarian neoplasm, Basal cell carcinoma, Urinary tract neoplasm, Gastrointestinal hemorrhage, Neop... ORPHA:144
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Enteric Anendocrinosis
Portal hypertension, Diarrhea, Malabsorption, Vomiting ORPHA:83620
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Neoplasm, Ileus, Abdominal pain ORPHA:168811
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Diarrhea OMIM:613502
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Failure to thrive, Macroglossia, Lo... ORPHA:308552
Immunodeficiency 58
Dysphagia, Eczema, Decreased specific antibody response to vaccination, Allergic rhinitis, Helico... OMIM:618131
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypot... OMIM:261740
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Weight loss, Arthrit... ORPHA:732
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Abdominal distention, Weight... ORPHA:298
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Pfapa Syndrome
Nausea and vomiting, Infectious encephalitis, Weight loss, Malabsorption, Arthritis, Abdominal pain ORPHA:42642
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Feeding difficulties, Cachexia, Weight loss OMIM:612075
Hereditary Central Diabetes Insipidus
Weight loss, Diarrhea, Vomiting ORPHA:30925
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Failure to thrive, Multiple gastric polyps, Intussuscep... OMIM:174900
Typhoid
Infectious encephalitis, Epistaxis, Gastrointestinal hemorrhage, Cardiac arrest, Skin rash, Diarr... ORPHA:99745
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Glutaric Aciduria Iii
Failure to thrive, Hypertension, Diarrhea, Vomiting OMIM:231690
Immunodeficiency, Common Variable, 2
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent otiti... OMIM:240500
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh... OMIM:617321
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Sick sinus syndrome, Prolonged PR interval, Gastroesophag... ORPHA:542306
Thymoma
Prostate neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Neoplasm of the gastrointestina... ORPHA:99867
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Abdominal pain, Hypertension, Red... ORPHA:563
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Anorexia, Gastrointestinal infarctions, Weight loss, H... ORPHA:3287
Carcinoid Syndrome
Right ventricular failure, Nausea and vomiting, Facial telangiectasia, Atypical pulmonary carcino... ORPHA:100093
Brunner Syndrome
Diarrhea OMIM:300615
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Failure to thrive, Chronic ... ORPHA:47
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Weight loss, Acne, Arthritis, Palmo... ORPHA:324964
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Neur... ORPHA:913
Tuberculosis
Weight loss ORPHA:3389
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Intestinal obstruction, Gas... ORPHA:97286
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Constipation, Palpitations, Weight loss, Obesity, Shortened PR interval, S... ORPHA:79102
Kaposi Sarcoma
Neoplasm of the skin, Lymphoproliferative disorder, Hemangioma, Weight loss, Skin rash, Abnormali... ORPHA:33276
Congenital Muscular Dystrophy Due To Lmna Mutation
Feeding difficulties, Cachexia, Arrhythmia, Congestive heart failure ORPHA:157973
Chylomicron Retention Disease
Vomiting, Failure to thrive, Steatorrhea, Malnutrition, Diarrhea OMIM:246700
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Tropical Endomyocardial Fibrosis
Abnormal EKG, Malnutrition, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Dec... ORPHA:75565
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Failure to thrive, Lymp... ORPHA:911
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Mpi-Cdg
Portal hypertension, Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemo... ORPHA:79319
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Ileal ulcer, Skin rash, Anterior uveitis OMIM:616744
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Infectious encephalitis, Cardiomyopathy, Achalasia, Congestiv... ORPHA:3386
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Facial telangiectasia, Neuroendocrine neoplasm, Anorexia, Neoplasm of ... ORPHA:100085
Hodgkin Lymphoma
Weight loss, Anorexia, Neoplasm, Lymphoma ORPHA:98293
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Sweet Syndrome
Dilated cardiomyopathy, Chronic lymphatic leukemia, Inflammation of the large intestine, Increase... ORPHA:3243
Aggressive Systemic Mastocytosis
Portal hypertension, Anorexia, Abdominal cramps, Leukemia, Weight loss, Malabsorption, Decreased ... ORPHA:98850
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Malabsorption, Ar... ORPHA:229717
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Non-Functioning Paraganglioma
Cerebral hemorrhage, Nausea, Palpitations, Weight loss, Paraganglioma, Episodic abdominal pain, C... ORPHA:94080
Turcot Syndrome With Polyposis
Thyroid carcinoma, Astrocytoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Glucose/Galactose Malabsorption
Failure to thrive, Abdominal distention, Malabsorption, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Diarrhea OMIM:614162
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Diarrhea ORPHA:49827
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Weight loss, Pancreatitis, Chronic diarr... ORPHA:65682
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Multiple myeloma, Weight loss, Pancreatitis, Diarrhea, Arrhythmia, Abd... ORPHA:188
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Il... ORPHA:100079
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Arrhythmia, Skin rash ORPHA:29822
Cocaine Intoxication
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... ORPHA:90068
Pleural Mesothelioma
Weight loss, Dysphagia, Abnormal cardiovascular system physiology ORPHA:50251
Immunodeficiency 55
Eczema, Diarrhea, Myelodysplasia, Recurrent skin infections OMIM:617827
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Anorexia, Bowel urgency, Pneumonia, Protracted ... ORPHA:97287
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Abnormal intestine morphology, Vomiting, Budd-Chiari syndrome, Pneumonia, Decreased circulating a... OMIM:226300
Galactose Epimerase Deficiency
Nausea and vomiting, Weight loss, Feeding difficulties ORPHA:79238
Anal Sphincter Dysplasia
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation OMIM:105563
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Myelodysplasia, Vomiting, Nausea, Failure to thrive, Feeding difficulties, Cerebral ischemia, Rey... ORPHA:927
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Dysphagia ORPHA:1177
Glossopharyngeal Neuralgia
Syncope, Feeding difficulties, Weight loss, Odynophagia, Bradycardia, Neoplasm, Schwannoma, Oral-... ORPHA:221098
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Bronchiectasis, Increased circulating interleukin 8, Chronic diarrh... OMIM:301220
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Cholesteatoma, Hepatitis, Gastritis, Crohn's disease, Decreased circulating total... OMIM:619381
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Vomiting, Diarrhea, Abdomi... OMIM:248360
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Failure t... ORPHA:1329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Chronic lymphatic leukemia, Myelodysplasia, Multiple myeloma, Nausea, Weight loss, Chron... ORPHA:98849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... ORPHA:37042
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Erythroderma, Pustule, Failure to thrive, Duodenitis, Increased... OMIM:614328
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis OMIM:604416
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Diarrhea, Protein-losing enteropathy OMIM:602579
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Intestin... ORPHA:131
Porphyria, Acute Intermittent
Hypertension, Vomiting, Nausea, Hepatocellular carcinoma, Tachycardia, Paralytic ileus, Diarrhea,... OMIM:176000
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea ORPHA:231
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Failure ... ORPHA:169160
Medullary Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Weight loss, Medullary thyroid carcinoma, Neoplasm of the skelet... ORPHA:1332
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Failure to thrive, Weight loss, Diarrhea ORPHA:178029
Polyarteritis Nodosa
Hypertension, Pericarditis, Weight loss, Cardiomyopathy, Raynaud phenomenon, Abnormality of the g... ORPHA:767
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Sepsis In Premature Infants
Increased circulating interleukin 6, Vomiting, Small for gestational age, Functional abnormality ... ORPHA:90051
Ppoma
Nausea and vomiting, Adrenocortical adenoma, Anorexia, Hypoactive bowel sounds, Weight loss, Neop... ORPHA:97278
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Vomiting, Permanent atrial fibrillati... ORPHA:31825
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing chol... ORPHA:2137
Grfoma
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... ORPHA:97261
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dysphagia, Nausea, Poor appetite, Diarrhea, Arrhythmia ORPHA:352447
Cog7-Cdg
Failure to thrive, Feeding difficulties, Diarrhea, Small for gestational age ORPHA:79333
Neuroblastoma, Susceptibility To, 1
Hypertension, Neuroblastoma, Ganglioneuroblastoma, Failure to thrive, Weight loss, Ganglioneuroma... OMIM:256700
Carney Triad
Nausea and vomiting, Hypertension, Anorexia, Gastrointestinal stroma tumor, Adrenocortical adenom... ORPHA:139411
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... ORPHA:793
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Colitis, Recurrent sinusitis OMIM:613101
Snakebite Envenomation
Intracranial hemorrhage, Pseudobulbar paralysis, Vomiting, Epistaxis, Tachycardia, Cerebral ische... ORPHA:449285
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Diarrhea, Arrhythmia, Nausea OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal salivary gland morphology, Dysphagia, Abnormal P wave, Xero... ORPHA:85443
Erythermalgia, Primary
Keratoconjunctivitis sicca, Xerostomia, Palpitations, Diarrhea, Constipation OMIM:133020
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Diarrhea, Arrhythmia, Abdominal pain ORPHA:54057
Immunodeficiency 27A
Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Increased circulating IgG level, Incr... OMIM:209950
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Arrhythmia, Abdominal pain, Constipation ORPHA:1267
Mental Retardation, Autosomal Dominant 57
High palate, Feeding difficulties, Otitis media, Diarrhea, Constipation OMIM:618050
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Failure to thrive, Decreased circulating IgA level, Decreased circ... OMIM:300400
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Vomiting, Failure to thrive, Diarrhea, Hypotension OMIM:264350
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain, Sarcoma ORPHA:69078
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Abdominal pain, Hematoch... OMIM:203300
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Achalasia, Hypoperistalsis, Uterine neop... ORPHA:1018
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal ... ORPHA:90038
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Microscopic Polyangiitis
Sinusitis, Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Episcleritis, Periton... ORPHA:727
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Tube feeding, Villous atrophy, Eczema, Vomiting, Erythroderma, Decr... OMIM:619510
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Pyoderma Gangrenosum
Inflammation of the large intestine, Myelodysplasia, Pustule, Myositis, Increased circulating ant... ORPHA:48104
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Inflammation of the large intestine, Abnormal T-wave, Palpita... ORPHA:70591
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Coronary Arterial Fistula
Syncope, Bacterial endocarditis, Systolic heart murmur, Continuous heart murmur, Palpitations, El... ORPHA:2041
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Sinusitis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Transi... ORPHA:183
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Diarrhea OMIM:609313
Simple Cryoglobulinemia
Raynaud phenomenon, Gastrointestinal hemorrhage, Vasculitis, Abdominal pain, Hypertension, Perica... ORPHA:91139
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Bloody diarrhea, Increased circulating interleukin 6, Gastrointestinal... ORPHA:544482
Foodborne Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Diarrhea, Arrhythmia, Abdominal pain, Constipation ORPHA:228371
Immunodeficiency, Common Variable, 1
Pneumonia, Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Recu... OMIM:607594
Cutaneous Mastocytoma
Vomiting, Nausea, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans, Maculop... ORPHA:79455
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss, Increased circulating antibody level ORPHA:411593
Graft Versus Host Disease
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Nausea, Failure to thrive, Fasciitis,... ORPHA:39812
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Failure to thrive in infancy, Feeding difficulties in infancy, Hypovolemic sho... ORPHA:171876
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Failure to thrive, Feeding difficulties, Diarrhea, Hypotension OMIM:177735
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Abdominal distention... ORPHA:1876
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Gastrointestinal... ORPHA:343
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Failure to thrive in infancy, Pancreatitis, Chronic diarrhea, Reduced sys... OMIM:618805
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Rectal fistula, Intestinal obstruction, Ab... ORPHA:70475
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Adrenocortical adenoma, Adenoma sebaceum, Esophagitis, Insulinoma,... OMIM:131100
Somatostatinoma
Nausea and vomiting, Adrenocortical adenoma, Anorexia, Weight loss, Neoplasm of the pancreas, Neo... ORPHA:97283
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Failure to thrive... OMIM:615207
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Porphyria
Nausea and vomiting, Hypertension, Anorexia, Diarrhea, Abdominal pain, Constipation ORPHA:738
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Feeding difficulties in infancy, Eczema, Abdominal distentio... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Failure to thrive, Abdominal distention, Decreased liver function, Diarrhea, Protein-lo... OMIM:608104
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Increased circulatin... ORPHA:319218
Hereditary Amyloidosis With Primary Renal Involvement
Hypertension, Tubulointerstitial nephritis, Vomiting, Nausea, Weight loss, Intestinal perforation... ORPHA:85450
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Abnormality of small intestinal villus morphology, Hypovol... ORPHA:2290
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Weight los... ORPHA:2126
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Vomiting, Nausea, Atrioventricular block, Abnormal atrioventricular conduction, Chronic diarrhea OMIM:118230
Zygomycosis
Myocarditis, Sinusitis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Refractory Celiac Disease
Jejunitis, Inflammatory abnormality of the skin, Villous atrophy, Weight loss, Malabsorption, Lym... ORPHA:398063
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Increased circulating IgA level, Panniculitis, Chronic diarrhea, Va... OMIM:617099
Necrotizing Enterocolitis
Shock, Bloody diarrhea, Vomiting, Peritonitis, Small for gestational age, Abdominal distention, B... ORPHA:391673
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Decreased circulating IgA level, Macrogl... OMIM:242860
Hyaline Fibromatosis Syndrome
Gingival fibromatosis, Diarrhea OMIM:228600
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Hemangioma, Hemang... ORPHA:79076
Whipple Disease
Myocarditis, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, Malabsorption, ... ORPHA:3452
Enterokinase Deficiency
Failure to thrive, Diarrhea OMIM:226200
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Nausea and vomiting, Failure to thrive, Weight loss, Diarrhea ORPHA:1842
Proprotein Convertase 1/3 Deficiency
Obesity, Diarrhea, Villous atrophy, Malabsorption OMIM:600955
Polycythemia Vera
Hypertension, Myelodysplasia, Acute leukemia, Budd-Chiari syndrome, Weight loss, Epistaxis, Inter... ORPHA:729
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrh... OMIM:616740
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Dysphagia, Failure to thrive, Macro... ORPHA:365
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Esophageal varix, Hepatic failure ORPHA:75234
Rett Syndrome
Cachexia, Abnormal T-wave, Prolonged QTc interval, Gastroesophageal reflux, Constipation OMIM:312750
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG ... OMIM:607271
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Weight loss, Intestinal perforati... ORPHA:679
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:232300
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Prolonged QT interval, Ganglioneuroblastoma, Neoplasm of the nervous syste... ORPHA:2151
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intestinal carcinoid, Palpitat... ORPHA:100076
Folate Malabsorption, Hereditary
Failure to thrive, Feeding difficulties in infancy, Diarrhea, Malabsorption OMIM:229050
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Basal cell carcinoma, Hepatitis, Gastritis, Vasculitis, ... ORPHA:3261
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced ejection fraction, Sudden cardiac death, Necrotizing enteroc... OMIM:201475
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Mastocytosis
Nausea and vomiting, Anorexia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Sarc... ORPHA:98292
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Shortened QT interval, Thyroid carcinoma, Meningioma, Gingival fibromatosis, Insu... ORPHA:652
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Immunodeficiency 69
Failure to thrive, Diarrhea, Skin rash OMIM:618963
Glucose-Galactose Malabsorption
Vomiting, Failure to thrive, Abdominal distention, Weight loss, Hyperactive bowel sounds, Malnutr... ORPHA:35710
Parathyroid Carcinoma
Nausea and vomiting, Dysphagia, Shortened QT interval, Thyroid carcinoma, Parathyroid carcinoma, ... ORPHA:143
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... ORPHA:391487
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Classic Hodgkin Lymphoma
Anorexia, Weight loss, Neoplasm, Lymphoma, Poor appetite, Skin rash ORPHA:391
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Weight loss, Ar... ORPHA:29207
Hypercalcemia, Infantile, 1
Vomiting, Failure to thrive, Weight loss, Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Dengue Fever
Cerebral hemorrhage, Nausea and vomiting, Epistaxis, Gastrointestinal hemorrhage, Skin rash, Diar... ORPHA:99828
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Vomiting, Myositis, Oligoarthritis, Chronic diarrhea, Gastrointestinal hemorrhage... OMIM:142680
Familial Mediterranean Fever
Nausea and vomiting, Gastrointestinal infarctions, Pericarditis, Peritonitis, Osteoarthritis, Mal... ORPHA:342
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Recurrent aspiration pneumonia, Weight loss, Impaired oropharyn... ORPHA:98897
Glucagonoma
Nausea and vomiting, Abnormal gastrointestinal motility, Anorexia, Adrenocortical adenoma, Stomat... ORPHA:97280
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Epistaxis, Diarrhea, Fat malabsorption OMIM:211600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Nausea, Palpitation... ORPHA:276621
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Diffuse Cutaneous Mastocytosis
Erythroderma, Vomiting, Myeloproliferative disorder, Gastrointestinal hemorrhage, Malnutrition, D... ORPHA:79456
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Vomiting, Decreased liver function, Diarrhea, Arrhythmia ORPHA:42
Aa Amyloidosis
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Malnutrition, Abdominal pain, Hypotension ORPHA:85445
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Inflammation of the large intestine, Failure to thrive OMIM:617718
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Acute lymphoblastic leukemia, Myelodysplasia, ... ORPHA:486
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Boutonneuse Fever
Nausea, Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculopapul... ORPHA:83313
Fabry Disease
Hypertension, Tenesmus, Vomiting, Nausea, Myocardial infarction, Transient ischemic attack, Conge... OMIM:301500
Erythroderma Desquamativum
Failure to thrive, Diarrhea, Seborrheic dermatitis ORPHA:314
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Vomiting, Nausea, Orthostatic hypotension, Atrioventricular block, Abnormal atrioventricular cond... OMIM:118301
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Weight loss, Steatorrhea, Exocrine pan... ORPHA:309031
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Feeding difficulties, Diarrhea, Abdominal pain, Constipation OMIM:613638
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Porphyria Due To Ala Dehydratase Deficiency
Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloprolifera... ORPHA:100924
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Huntington Disease-Like 2
Weight loss ORPHA:98934
Wolman Disease
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Steatorrhea, Hepatic failu... ORPHA:75233
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Diarrhea OMIM:601110
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatocellular carcinoma, Diarrhea, Fat malabsorption OMIM:601847
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Vomiting, Celiac disease, Decreased circula... ORPHA:90363
Gitelman Syndrome
Prominent U wave, Nausea and vomiting, Syncope, Abnormal T-wave, Prolonged QT interval, Tubuloint... ORPHA:358
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Malignant neoplasm of the central nervous system, Weight loss, A... ORPHA:142
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Testicular adrenal rest tumor, Anorexia, Vomiting, Failure to thrive... ORPHA:361
Rapadilino Syndrome
Cleft palate, High, narrow palate, Diarrhea, High palate OMIM:266280
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Weight... ORPHA:31205
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Celiac disease, Orthostatic hypotension, Failure to thrive, Weight... ORPHA:199299
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Failure to thrive, Cheilitis, Decreased circulating antibody level... ORPHA:90045
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Esophagitis, Eosinophilic, 2
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Lymphoproliferative disorder, Failure to thrive, Abnormal immunoglobulin level, Decrea... ORPHA:276
Adiposis Dolorosa
Xerostomia, Telangiectasia of the skin, Arthritis, Recurrent skin infections, Obesity, Diarrhea, ... ORPHA:36397
Celiac Disease, Susceptibility To, 1
Eczema, Vomiting, Stomatitis, Failure to thrive, Decreased circulating IgA level, Abdominal diste... OMIM:212750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Sinusitis, Protracted diarrhea, Failure to thr... ORPHA:572
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Chylomicron Retention Disease
Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Fat malabsorption ORPHA:71
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Colitis, Esophageal stenosis OMIM:615190
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Lassa Fever
Shock, Nausea and vomiting, Dysphagia, Increased circulating IgM level, Diarrhea, Abdominal pain,... ORPHA:99824
Alg1-Cdg
Cardiomyopathy, Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal t... ORPHA:79327
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Nasogastric tube feeding, Vomiting, Failure to thrive ORPHA:289504
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Vomiting, Failure to thrive, Reye syndrome-like episodes, Acute hepatic failure, Osteomyelitis le... OMIM:256810
Multiple Endocrine Neoplasia Type 4
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... ORPHA:276152
Juvenile Dermatomyositis
Dysphagia, Pericarditis, Myositis, Weight loss, Telangiectasia of the skin, Cardiomyopathy, Bundl... ORPHA:93672
Juvenile Polyposis Syndrome
Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplasm of the small ... ORPHA:2929
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Allergic Bronchopulmonary Aspergillosis
Weight loss, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Retinal capillary h... ORPHA:29072
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Small for gestational age, Aortic regurgitation, Intractable di... ORPHA:84064
Selective Igm Deficiency
Thyroid carcinoma, Non-infectious meningitis, Fasciitis, Raynaud phenomenon, Crohn's disease, Dec... ORPHA:331235
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite ORPHA:312
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Diarrhea, Skin rash OMIM:601979
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Failure to thrive, Decreased specific anti... OMIM:614576
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Chronic leukemia, R... ORPHA:906
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Pediatric-Onset Graves Disease
Nausea and vomiting, Hypertension, Atrial fibrillation, Episcleritis, Palpitations, Failure to th... ORPHA:525731
Legionnaires Disease
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... ORPHA:549
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Perry Syndrome
Weight loss, Hypotension ORPHA:178509
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Weight loss, Tachycardia OMIM:613239
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Failure to thrive, Otitis media, Panhypogammaglobulinemia, Diarrhea OMIM:602450
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain, Capilla... ORPHA:36234
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Intracranial hemorrhage, Acute leukemia, Chronic otitis media, Weight loss, ... ORPHA:3226
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Weight loss, Tachycardia OMIM:188580
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Arthritis, Lymphoma, Uveitis, Inflammatory abnormality of the ... ORPHA:36412
Erythrokeratodermia Variabilis
Neoplasm of the skin, Weight loss, Skin rash ORPHA:317
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Membranous nephropathy, Colonic eosinophilia, Eosinophilic ... OMIM:618999
Congenital Toxoplasmosis
Failure to thrive in infancy, Diarrhea ORPHA:858
Riboflavin Transporter Deficiency
Hypertension, Dysphagia, Cachexia ORPHA:97229
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... OMIM:618523
Imerslund-Gräsbeck Syndrome
Vomiting, Failure to thrive, Weight loss, Tachycardia, Angular cheilitis, Poor appetite, Glossiti... ORPHA:35858
Carnitine Palmitoyltransferase I Deficiency
Feeding difficulties in infancy, Diarrhea, Arrhythmia OMIM:255120
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Failure to thrive, Feeding difficulties, Chron... OMIM:613489
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Nausea, Pa... ORPHA:231625
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Vomiting, Nausea, ST segment depression, Prolonged QT... ORPHA:90065
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Feeding difficulties, Failure to thrive, Hypovolemi... ORPHA:427
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Acrodermatitis Enteropathica
Anorexia, Pustule, Failure to thrive, Cheilitis, Weight loss, Furrowed tongue, Malabsorption, Chr... ORPHA:37
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Weight loss, Card... ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Diarrhea, Steatorrhea, Hepatic failure OMIM:235555
Graves Disease, Susceptibility To, 1
Weight loss, Congestive heart failure OMIM:275000
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Primary Sclerosing Cholangitis
Spider hemangioma, Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellula... ORPHA:171
Microsporidiosis
Myocarditis, Sinusitis, Cholangitis, Hepatitis, Abdominal pain, Infectious encephalitis, Vomiting... ORPHA:2552
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Noncompaction cardiomyopathy, Weigh... ORPHA:3208
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Steatorrhea, Hepatic failure, Diarrhea, Fat malabsorption OMIM:607765
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia, Acute infectious pneumonia, Bronchiectasis ORPHA:60033
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatitis, Steatorrhea, Hepatic failure, Diarrhea OMIM:613812
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Cachexia, Esophageal varix, Vomiting, Failure to thrive, Feeding difficultie... ORPHA:275761
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Hereditary Angioedema Type 1
Dysphagia, Vomiting, Nausea, Intestinal edema, Abnormal soft palate morphology, Abnormal uvula mo... ORPHA:100050
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Inflammation of the large intestine, Joint hemorrhage, Epistaxis, Hepatic fa... ORPHA:331
Immunodeficiency 22
Failure to thrive, Panniculitis, Diarrhea OMIM:615758
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Increased inflammatory response, Intestinal obstru... ORPHA:449400
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Diarrhea, Poor appetite OMIM:201100
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Dextrocardia
Neuroblastoma, Meckel diverticulum, Intestinal malrotation, Abnormal EKG, T-wave inversion ORPHA:1666
Alternating Hemiplegia Of Childhood
Dysphagia, Anorexia, Abnormal T-wave, Vomiting, Cardiac conduction abnormality, Gastrointestinal ... ORPHA:2131
Isaac Syndrome
Weight loss ORPHA:84142
Plague
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Erythema nodosum, Vomiting, Endoc... ORPHA:707
Waldenström Macroglobulinemia
Anorexia, Leukemia, Monoclonal immunoglobulin M proteinemia, Epistaxis, Malabsorption, Lymphoma, ... ORPHA:33226
Lysosomal Acid Lipase Deficiency
Portal hypertension, Esophageal varix, Vomiting, Failure to thrive, Protuberant abdomen, Acute he... OMIM:278000
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Dopamine Beta-Hydroxylase Deficiency
Syncope, Vomiting, Orthostatic hypotension, Orthostatic syncope, Rhinitis, Abnormal EKG, Diarrhea ORPHA:230
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Inflammatory abnormality of the skin, Prolonged QT interval, Vomiting, Sm... ORPHA:26793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Prolonged Q... ORPHA:71212
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Recurrent aspiration pneumonia, Pulmonary hemorrhage, Chronic mucoc... ORPHA:79124