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Gene: Smtn MGI:1354727

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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:
smoothelin
Synonyms:
N/A

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 Smtn 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 Smtn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Tricuspid regurgitation, Hypoper... OMIM:611376
Ethanolaminosis
Cardiomegaly OMIM:227150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Omphalocele, Nausea and vomiting, Intestinal malrotati... ORPHA:2241
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... ORPHA:388
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... ORPHA:229717
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Achalasia OMIM:615750
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Abnormal heart morphology, R... ORPHA:79327
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Eczema, Celiac disease, Recurrent upper respiratory tract infections, Interstitial... OMIM:615952
Achalasia-Microcephaly Syndrome
Achalasia, Hirsutism OMIM:200450
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Severe short stature ORPHA:3239
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Sepsis, Chronic otitis media ORPHA:33355
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Achalasia-Microcephaly Syndrome
Growth delay, Achalasia ORPHA:929
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent respiratory infections, Recurrent urinary tract infections, Abdominal distention, Hypop... OMIM:619365
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... ORPHA:436159
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Short stature, Osteomyelitis, Skin ra... ORPHA:47
Meckel Diverticulum
Meckel diverticulum OMIM:155140
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Esophageal stenosis, Hypoperistalsis, Esophageal neo... ORPHA:1018
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Folliculitis, Colitis, Pyoderma, Cro... OMIM:613148
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Brittle hair, Sparse scalp hair, Brittle scalp... OMIM:256500
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Hypertension, Atrial septal defect, Pulm... OMIM:613834
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ... OMIM:266600
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Short stature OMIM:221350
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Recurrent upper respiratory tract ... OMIM:616100
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Ventricular septal defect, Short stature, Highly arched eyebrow, Secu... OMIM:600987
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism... OMIM:617053
Tetrasomy 18P
Achalasia, Syncope ORPHA:3307
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Short stature, Thick eyebrow ORPHA:436174
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Sepsis, Recurrent cutaneous fungal... ORPHA:331235
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Growth delay, Inflammation of the large intest... OMIM:615767
Immunodeficiency 59 And Hypoglycemia
Short stature, Recurrent skin infections, Malabsorption, Chronic diarrhea, Recurrent upper respir... OMIM:233600
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Triple A Syndrome
Achalasia, Short stature ORPHA:869
Scleromyxedema
Abnormality of the gastrointestinal tract, Transient ischemic attack, Hypoperistalsis, Raynaud ph... ORPHA:167635
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosu... OMIM:614700
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Recurrent to... ORPHA:2686
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Posterior Column Ataxia With Retinitis Pigmentosa
Flexion contracture of finger, Recurrent urinary tract infections, Camptodactyly, Achalasia, Join... OMIM:609033
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Sepsis, Endocarditis, Se... ORPHA:449280
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, V... OMIM:243150
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Sepsis, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurr... OMIM:620321
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic ... ORPHA:810
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Secundum atrial septal defect, Recurrent u... OMIM:614868
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Achalasia, Short stature, Dysphagia ORPHA:79107
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Malabsorption, Diarrhea, Atypical or pr... ORPHA:83471
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis, Vomiting, Alopecia, ... ORPHA:37042
Dystonia-Deafness Syndrome 1
Achalasia, Pseudobulbar paralysis, Cleft palate, Dysphagia OMIM:607371
Pgm3-Cdg
Recurrent viral infections, Sepsis, Gastroesophageal reflux, High palate, Chronic otitis media, M... ORPHA:443811
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Sepsis, Cholecystitis, Psoriasiform dermatitis, Epididymitis, Rec... ORPHA:183675
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Conjunctivitis, Chronic oral candid... OMIM:616740
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Achalasia, Sh... ORPHA:324
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia OMIM:614326
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Growth delay, Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... OMIM:277175
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Lassa Fever
Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Diarrhea, Sepsis, Conjunctivitis, D... ORPHA:99824
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis ORPHA:36237
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Malabsorption, Pyloric stenosis, Sepsis, Tra... ORPHA:379
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Alopecia, Abdominal pain, Malabsorption, Growth delay ORPHA:100025
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Thick hair, Recurrent upper respiratory tract in... ORPHA:263501
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... OMIM:617475
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Recurrent pha... ORPHA:549
Immunodeficiency 66
Pustule, Recurrent skin infections, Sepsis OMIM:618847
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Sepsis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain... ORPHA:36234
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Pericarditis,... ORPHA:47612
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Epidermolysis Bullosa Acquisita
Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large in... ORPHA:46487
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Short stature, Sepsis, Nasogastric tube feeding in infancy OMIM:619059
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Recurrent viral infections, Secretory diarrhea, Sepsis, Atri... OMIM:619573
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enamel hypo... ORPHA:79405
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, High anterior hairline, Feeding difficulties, Dysph... OMIM:615510
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Recurrent respiratory infections, Acute hepatic failure... ORPHA:36426
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Chr... OMIM:619858
Melioidosis
Shock, Foot osteomyelitis, Pneumonia, Osteoarthritis, Sepsis, Hepatitis, Acute infectious pneumon... ORPHA:31202
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... ORPHA:247691
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cor triatr... OMIM:612541
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Nausea and ... ORPHA:537
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency, Anorexia, Abdomina... ORPHA:199299
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Growth delay, Atrophic scars, Nail dystrophy, Keloids, Enamel hypo... ORPHA:79406
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Sinus bradycardia, Feeding difficulties, Chronic constipation, Gast... OMIM:619482
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Alg12-Cdg
Recurrent respiratory infections, Intestinal malrotation, Recurrent ear infections, Cryptorchidis... ORPHA:79324
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroiditis, Recurrent infec... OMIM:618985
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Graft Versus Host Disease
Tachycardia, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Abdominal pain, Maculopap... ORPHA:39812
Galactose Mutarotase Deficiency
Sepsis, Decreased liver function ORPHA:570422
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Protein-losing enteropathy, Recurrent otitis... OMIM:613502
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility... OMIM:619608
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Congestive heart failure, Recurrent bronchopulmonary infections... OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Pancreatitis, Sepsis, Nausea and vomiting ORPHA:289916
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Sepsis, Recurrent candida i... ORPHA:477
Inhalational Anthrax
Abnormal sweat gland morphology, Sepsis, Vomiting, Hypotension, Internal hemorrhage ORPHA:247257
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Vasculitis, Sepsis, Hypotension, Pancreatitis ORPHA:70578
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Short stature, Orthostatic hypotension OMIM:231550
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarrhea, Lympha... ORPHA:31205
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation, Growth delay, Atrophic scars, Nail dystrophy, Enamel hypoplasia ORPHA:79411
Meningococcal Meningitis
Shock, Projectile vomiting, Skin rash, Anorexia, Sepsis, Hypotension, Infectious encephalitis ORPHA:33475
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Feeding difficulties, Chronic constipati... OMIM:209880
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Sepsis, Growth delay, Hypertension, Nephritis OMIM:614034
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Pneumonia, Sepsis, Bradycardia, Hypotension ORPHA:70587
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Telangiectasia of the skin, Flexion contracture, Growth delay, Keratoconjunctiviti... OMIM:616007
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Severe recurrent varicella, Diarrhea, ... ORPHA:276
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Hypopigmentation of hair, Oste... ORPHA:565
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Sepsis, Vomiting, Nephritis, Infectiou... ORPHA:2552
Acquired Purpura Fulminans
Shock, Skin rash, Sepsis, Intracranial hemorrhage, Hepatic failure, Internal hemorrhage ORPHA:49566
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Sepsis, ... OMIM:301082
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, ... ORPHA:906
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Sepsis, Erythroderma, Sparse hair, Chronic otiti... ORPHA:313
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Sepsis, Microcolon OMIM:619362
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia ORPHA:3405
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Thick hair, Congestive he... ORPHA:505248
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Recurrent vira... OMIM:209920
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Flexion contracture, Sepsis, Feeding difficulties, Gastrostomy tube feeding in i... ORPHA:544503
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Congenital Contractural Arachnodactyly
Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ... ORPHA:115
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Short stature, Feeding difficulties, Esophagitis, Intrauterine growth retardation, Achalasia OMIM:615356
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre... OMIM:618935
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Abnormal he... ORPHA:391673
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Sepsis, Growth delay, Atrial septal defect, Double outlet right ventricle, Hepatic... OMIM:614886
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections ORPHA:204
Reticular Dysgenesis
Sepsis OMIM:267500
Sepsis In Premature Infants
Neonatal sepsis, Tachycardia, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enter... ORPHA:90051
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation, Growth delay, Atrophic scars, Nail dystrophy... ORPHA:79409
Congenital Enterovirus Infection
Skin rash, Pericardial effusion, Myocarditis, Sepsis, Hepatitis, Cardiomyopathy, Hypotension, Hep... ORPHA:292
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis... OMIM:618394
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Short stature, Scarring, Recurrent skin infections, Abnormal tongue morphology, Chro... ORPHA:158668
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Amelogenesis i... ORPHA:169090
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R... OMIM:300635
Generalized Pustular Psoriasis
Pustule, Congestive heart failure, Sepsis, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosis... ORPHA:247353
Avian Influenza
Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Sepsis, Hepatitis, Vomiting, Conju... ORPHA:454836
Plague
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumo... ORPHA:707
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Sinusitis, Short stature, Eczema, Pneumonia, Recurrent... ORPHA:811
Currarino Syndrome
Anal stenosis, Recurrent urinary tract infections, Perianal abscess, Gastrointestinal obstruction... OMIM:176450
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Acute Lung Injury
Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Sepsis ORPHA:178320
Omenn Syndrome
Alopecia, Pneumonia, Chronic diarrhea, Sepsis, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of t... ORPHA:39041
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Wiskott-Aldrich Syndrome
Epistaxis, Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent upper respiratory tract inf... OMIM:301000
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV encephalitis, Sepsis, Uveitis, Recurrent infections OMIM:615122
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intrau... OMIM:601346
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Alopecia, Recurrent skin infections, Pneumonia, Esophageal st... ORPHA:79404
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Sepsis, Bronchiectasis, Rec... OMIM:618986
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Woolly hair, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... OMIM:614602
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Abdominal distention, Perimembranous ventricular septal defect, Protein... OMIM:608104
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Sepsis, Hypertension, Vomiting, Bradycardia, Hypotension, Dyspha... ORPHA:94093
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly OMIM:269920
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Inte... ORPHA:1199
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sepsis, Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholan... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Alopecia, Recurrent viral infections, Recurrent upper respiratory tract infectio... ORPHA:169154
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Scarring, Sepsis, Recurrent infections, Growth delay, Feedin... ORPHA:79396
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Staphylococcal Necrotizing Pneumonia
Shock, Pneumonia, Sepsis, Acute infectious pneumonia, Hypotension ORPHA:36238
Isolated Congenital Alacrima
Keratitis, Achalasia, Distichiasis, Conjunctivitis ORPHA:91416
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation, Growth delay, Atypical scarring of skin, Atrophic scars, Nail dyst... ORPHA:79410
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Sepsis, Abnormal left ventricular function, Protein-lo... OMIM:619991
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Recurre... OMIM:243700
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Duodenal stenosis, Abnormal tricus... ORPHA:1759
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent viral infections, Recurrent pharyn... ORPHA:293978
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Caroli Syndrome
Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hematemesis, Esophageal var... ORPHA:480520
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... ORPHA:79319
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Feeding difficulties, Recurrent infections OMIM:614739
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Growth de... ORPHA:139466
Postinfectious Vasculitis
Anorexia, Recurrent candida infections, Gastrointestinal inflammation, Unusual gastrointestinal i... ORPHA:48435
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... ORPHA:533
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... OMIM:212140
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... ORPHA:2968
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Immunodeficiency 31C
Chronic oral candidiasis, Villous atrophy, Recurrent respiratory infections, Short stature, Eczem... OMIM:614162
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Hepatitis, Ga... ORPHA:186
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Recurrent in... OMIM:226300
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Abdominal pain, High, narrow palate, Rectal prolapse,... ORPHA:79076
Nocardiosis
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Anorexia, Keratitis, Lym... ORPHA:31204
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal ... OMIM:300514
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 68
Septic arthritis, Lymphadenitis, Recurrent skin infections, Sepsis OMIM:612260
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, Nasogastric tube feeding in in... ORPHA:363611
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cryp... ORPHA:2059
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis OMIM:614328
Trigonocephaly 1
Omphalocele, High, narrow palate, Synophrys, Meckel diverticulum OMIM:190440
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Spastic Paraplegia 84, Autosomal Recessive
Hip contracture, Ankle flexion contracture, Crohn's disease, Knee flexion contracture OMIM:619621
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Colitis, Nail dystrophy, Intrauterine growth r... OMIM:615190
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Duodenal atresia OMIM:617784
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Oral-ph... ORPHA:95455
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palat... OMIM:619227
Duodenal Atresia
Duodenal atresia OMIM:223400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Sepsis, Primary amenorrhea, Growth delay, High palate, Vomiting, Tube ... OMIM:619418
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Growth delay, Severe ... OMIM:614114
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stat... OMIM:115470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Recurrent upper respiratory tract infections, Sepsis, Otitis media, ... OMIM:602450
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Recurrent abscess formation, Intractable diarrhea, ... OMIM:619381
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Calciphylaxis
Sepsis, Cellulitis ORPHA:280062
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Synophrys, Protein-losing enteropathy, Feeding difficulties OMIM:618154
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Recurrent mycobacterial infections, Chronic diarrhea, Ch... ORPHA:98813
Trichothiodystrophy 3, Photosensitive
Brittle hair, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Recurrent infections, Fe... OMIM:616395
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Primary amenorrhea OMIM:600955
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Alopecia, Inguinal hernia, Telangiectasia of the skin, Ventri... ORPHA:2092
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Short stature, Esophageal atresia, Gastrointestinal atresia,... ORPHA:391641
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Sepsis, Recurrent infectio... ORPHA:764
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure OMIM:602579
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Alg6-Cdg
Macroglossia, Protein-losing enteropathy, Feeding difficulties ORPHA:79320
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Eryt... OMIM:619510
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... ORPHA:210122
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Hereditary Hyperekplexia
Hiatus hernia, Gastroesophageal reflux, Hernia, Esophagitis, Umbilical hernia ORPHA:3197
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Patent foramen ovale, Infectious encephalitis, Short stature, Bronchiectasis, He... ORPHA:391487
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... OMIM:201475
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Short stature, Epistaxis, Diarrhea OMIM:211600
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Short stature, Ecze... ORPHA:464306
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Short stature, Diarrhea, Hepatocellular carcinoma OMIM:601847
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Jacobsen Syndrome
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Intestinal malrotat... ORPHA:2308
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... ORPHA:436252
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Recur... ORPHA:464311
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... OMIM:617718
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Oculoskeletodental Syndrome
Short stature, Cryptorchidism, Low anterior hairline, Elbow flexion contracture, Low posterior ha... OMIM:618440
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Eczema, Abdominal pain, Celiac disease, Postnatal growth retardation, Di... OMIM:212750
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Camptodact... OMIM:247200
Duodenal Atresia
Duodenal atresia ORPHA:1203
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Eczema, Recurrent vir... OMIM:606367
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Postnatal growth retardation, Cryptorchidism, Feeding difficulties in infancy, Cle... OMIM:257300
Feingold Syndrome
Esophageal atresia, Short stature, Duodenal atresia ORPHA:1305
Colonic Atresia
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia ORPHA:1198
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99226
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly ORPHA:42
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Bronchiectasis, Crohn's disease OMIM:619632
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Colitis, Hepatoblastoma, A... ORPHA:84064
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Anal fissure, Glomerulonephritis, Recurrent skin infections, Enamel hypop... ORPHA:79408
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Inte... OMIM:270100
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Cryptococcosis
Osteomyelitis, Pneumonia, Peritonitis, Sepsis, Vomiting, Prostatitis ORPHA:1546
Dermatosparaxis Ehlers-Danlos Syndrome
Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Femoral hernia, Sc... ORPHA:1901
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Dilated cardiomyopathy, Chronic ... OMIM:615895
Microform Holoprosencephaly
Short stature, Cleft palate, Intrauterine growth retardation, Tetralogy of Fallot, Duodenal atresia ORPHA:280200
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... OMIM:613960
Endove Syndrome, Limb-Only Type
Neonatal sepsis, Umbilical hernia OMIM:619217
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... ORPHA:268
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Cryptorchidism, Atrial septal defect, Intrauterine growth retardation, ... OMIM:603467
Plasminogen Deficiency, Type I
Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph... OMIM:217090
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... ORPHA:2137
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Arthritis, In... ORPHA:324964
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Recurrent infections, Gro... OMIM:612562
Ventilator-Induced Diaphragmatic Dysfunction
Abdominal symptom, Sepsis ORPHA:505395
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Peric... OMIM:235510
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly ORPHA:158687
Dextrocardia
Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormal heart morpho... ORPHA:1666
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Feedi... OMIM:618846
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atresia OMIM:243605
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... OMIM:620133
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Fryns Syndrome
Omphalocele, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Esophageal... OMIM:229850
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar... ORPHA:75249
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol... ORPHA:3243
Pyoderma Gangrenosum
Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Rheumatoid arthritis ORPHA:48104
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Abdomin... ORPHA:1655
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Short stature, Cleft palate, Growth delay, Colon canc... ORPHA:1052
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Vasculitis, Flexion contracture, Uveitis, Arthritis, Patchy alopec... ORPHA:90289
Arterial Tortuosity Syndrome
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia... ORPHA:3342
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Giant cell hepatitis, Fat malabsorption, Hepatic failure OMIM:214950
Reactive Arthritis
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Osteomyelitis, Abdominal ... ORPHA:29207
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Cardiomy... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Abdominal distention, Cleft palate, H... OMIM:235255
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptosis, High palate... OMIM:311900
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Postnatal growth retardation, Steatorrhea, Fat malabsorption, Hepatic failure ORPHA:79303
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infections, Secretory dia... OMIM:618183
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Pericardial effusion, Chronic d... ORPHA:90362
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Short stature, Abnormality of hair texture, Feeding difficulties, Umbilical hern... ORPHA:79351
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Severe short stature, Recurrent urinary tract infections, ... ORPHA:90349
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematochezia, Cardiomyopathy, Infl... OMIM:203300
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly OMIM:268800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... OMIM:301074
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Short stature, Cryptorchidism, Widow's peak, Furrowed tongue, Feeding ... OMIM:616975
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Hypoplastic left heart, Gas... OMIM:301043
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Esophageal atresia, Gastrointesti... OMIM:164280
Distal Deletion 12Q
Late onset atopic dermatitis, Short stature, Unilateral cryptorchidism, Esophageal atresia, High,... ORPHA:96149
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle ... ORPHA:2306
Menke-Hennekam Syndrome 2
Chronic constipation, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Neonatal sepsis, Vomiting, Pneumonia ORPHA:90790
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Gardner Syndrome
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... ORPHA:79665
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... ORPHA:247806
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis, Feeding difficulties ORPHA:529799
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Multi... OMIM:175100
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Spondyloocular Syndrome
Duodenal ulcer, Short stature, Unilateral cryptorchidism, Mitral valve prolapse, Low posterior ha... OMIM:605822
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Poor appetite, Postnatal growth retardation, High, narrow palate, Cryptorchidism, Feeding difficu... ORPHA:96182
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Intestinal malrotation,... OMIM:601776
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... ORPHA:652
Glycogen Storage Disease Ib
Short stature, Hepatocellular carcinoma, Gout, Hypertension, Inflammation of the large intestine,... OMIM:232220
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Growth delay, Recurrent infections, Esophagitis, Intrauterine growth retard... ORPHA:541423
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis OMIM:619652
Glycogen Storage Disease Ic
Stomatitis, Spider hemangioma, Hepatocellular carcinoma, Chronic pancreatitis, Recurrent upper re... OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Epistaxis, Gout, Thyroiditis, Pancreatitis, Diarrhea, Irregular menstruation, Hepa... ORPHA:79259
Musculocontractural Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal heart valve morphology, Recurrent skin infections, Cryptorchidism, Malr... ORPHA:2953
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contrac... ORPHA:468631
Familial Adenomatous Polyposis
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g... ORPHA:733
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Diarrhea, Malnutrition, Fat malabsorption ORPHA:96180
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly OMIM:620306
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Feeding difficulties in infancy, High palate, Atrial s... OMIM:135900
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure ORPHA:79302
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat... OMIM:602782
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... ORPHA:261584
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie... ORPHA:512
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Inguinal hernia, Postnatal growth retardation, Congestive heart failure, Di... ORPHA:90348
Iniencephaly
Omphalocele, Rhizomelia, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, Ana... ORPHA:63259
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Malrotation of... ORPHA:264450
Tarp Syndrome
Abnormal hair pattern, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Abnormal duode... ORPHA:2886
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Recurrent urinary tract infections, Cholangitis,... ORPHA:731
Fanconi Anemia
High palate, Atrial septal defect, Short stature, Aplasia/Hypoplasia of the uvula, Cryptorchidism... ORPHA:84
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Cryptor... ORPHA:2896
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Esophageal... ORPHA:2908
Charge Syndrome
Secundum atrial septal defect, Atrial septal defect, Overriding aorta, Hypogonadotropic hypogonad... OMIM:214800
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Ventricular septal defect, Nasogastric tube feeding in... ORPHA:1708
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Telangiectasia, Constipa... ORPHA:495818
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis, Subcutaneous lipoma OMIM:131100
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short stature, Secundum atrial septal defect, Nasogastric tube feedi... ORPHA:99646
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Antenatal intrac... OMIM:608836
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Cardiomegaly ORPHA:2463
Occipital Horn Syndrome
Recurrent urinary tract infections, Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hia... ORPHA:198
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Tracheoesophagea... OMIM:107480
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Periodontitis ORPHA:722
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Omphalocele OMIM:200995
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Abetalipoproteinemia
Cardiomegaly, Congestive heart failure, Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, S... ORPHA:14
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p... OMIM:619472
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... OMIM:252500
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Absent eyelashes, Cryptorchidism, Extension ... OMIM:219000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome,... ORPHA:276152
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Ogden Syndrome
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... OMIM:300855
Isolated Biliary Atresia
Acholic stools, Fat malabsorption, Decreased liver function ORPHA:30391
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Short stature, Highly arched eyebrow, Cryptorchidism, Malrotation of s... OMIM:194190
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Sparse scalp hair, Ventricular septal defect, Cryptorchidism, Mal... OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue ... OMIM:312870
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Aicardi-Goutières Syndrome
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Arrhythmia OMIM:256040
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... ORPHA:116

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 Smtn

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 Smtn.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Smtntm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smtntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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