Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
toll-like receptor 5
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlr5 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 Tlr5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset tr... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Neonatal hypoglycemia, Episodic hyperhidrosis, Polyphagia, Palpita... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276580
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglyce... ORPHA:276556
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholest... OMIM:610947
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hypertension, Hepatomegaly, Loss of subcutaneous adipose tissue ... OMIM:608600
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:66628
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:179494
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant d... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Dia... ORPHA:79084
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:411593
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Obesity, Hyp... ORPHA:369873
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Polyphagia, Abnormal eating behavior, Hypogonadism, Recurrent upper res... OMIM:614962
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... OMIM:613501
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropen... ORPHA:572
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL chol... OMIM:604367
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Pediatric-Onset Graves Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating T4 level, Goiter... ORPHA:525731
Preeclampsia
Autoimmunity, Hypertension, Elevated diastolic blood pressure, Helicobacter pylori infection, Sma... ORPHA:275555
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Malabsorpt... OMIM:300310
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intr... ORPHA:363400
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... OMIM:618495
Insulinoma
Zollinger-Ellison syndrome, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, P... ORPHA:97279
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Insulin resistance, Mac... ORPHA:528
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Recurrent infections, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Il... OMIM:613327
Acquired Generalized Lipodystrophy
Autoimmunity, Hypertension, Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus... ORPHA:79086
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Temple Syndrome
Cleft palate, High palate, Small for gestational age, Maturity-onset diabetes of the young, Feedi... OMIM:616222
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Hepatomegaly, Maternal diabetes, Loss of subcutaneous ... ORPHA:79083
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu... ORPHA:37042
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Intrahepatic cholestasis, Hepatocellular carcinoma, Biliary tract obst... ORPHA:69663
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Cardi... ORPHA:90970
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hypertension, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... OMIM:616022
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Hepatic steatos... OMIM:610717
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia OMIM:602079
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Multiple lipomas, Insulin resistance ORPHA:2398
Insulin-Resistance Syndrome Type B
Autoimmunity, Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weigh... ORPHA:2298
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Secondary Short Bowel Syndrome
Sepsis, Abdominal distention, Volvulus, Primary hypothyroidism, Steatorrhea, Malnutrition, Small ... ORPHA:95427
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Anorexia, Hypoglycemia, Elev... OMIM:619386
Selective Igm Deficiency
Autoimmunity, Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Thyroid carci... ORPHA:331235
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Overlap Myositis
Autoimmunity, Hypertension, Dysphagia, Leukopenia, Elevated circulating creatine kinase concentra... ORPHA:206572
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia, Tall stature OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Recurrent upper respiratory tract... OMIM:614963
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Chronic diarrhea, Recurrent pneumonia,... OMIM:619164
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ... OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention OMIM:616868
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Neutropenia, Recurrent protozoan infections, Infectious encephalitis, Villous atroph... OMIM:209920
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Sepsis, Neutropenia, Chronic otitis media, Hepatitis, Abnormal lung morp... ORPHA:47
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Type I ... OMIM:614700
Temple Syndrome
Feeding difficulties in infancy, Type II diabetes mellitus, Polyphagia, Nasogastric tube feeding,... ORPHA:254516
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... OMIM:614372
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin ... ORPHA:2348
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia, Large for gestational age, Obesity, Eosinophilia OMIM:248100
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-re... OMIM:269700
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe... OMIM:618805
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Sepsis, Increased circulating interleukin 6, Pneumonia, Diabetic ketoacidosis, ... ORPHA:70578
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... OMIM:613953
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly... OMIM:278000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Feeding difficulties in infancy, Decreased plasma free carnitine, Hypoglycemia, Fai... OMIM:619048
Acquired Partial Lipodystrophy
Autoimmunity, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lymphocytosis ORPHA:79087
Alstrom Syndrome
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... OMIM:203800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, Diarrhea, T lymphoc... OMIM:608971
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Felty Syndrome
Sinusitis, Autoimmunity, Sepsis, Neutropenia, Chronic otitis media, Pleuritis, Recurrent infectio... ORPHA:47612
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancr... ORPHA:276608
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Hepatitis, Recurrent infections, Recurrent ... ORPHA:33110
Pgm3-Cdg
Autoimmunity, Eczema, Lactose intolerance, Sepsis, Neutropenia, Neutropenia in presence of anti-n... ORPHA:443811
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Type 1 Diabetes Mellitus
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia, Hyperglyce... OMIM:222100
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Macrophage Activation Syndrome
Autoimmunity, Neutropenia, Hepatitis, Splenomegaly, Increased circulating ferritin concentration,... ORPHA:158061
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cou... ORPHA:930
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Vomiting, Increased hepatic glycoge... ORPHA:263455
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Feeding difficulties, Cardiomyopathy, Ketotic hypoglycemia, Elevated circulati... ORPHA:26792
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Dia... ORPHA:77296
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly ORPHA:52416
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Cough, Barrett esopha... ORPHA:70482
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Sepsis, Recurrent herp... ORPHA:183675
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Hepatomegaly, B lymphocytopenia, Decreased proportion of class-sw... OMIM:607594
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Nausea and vomiting, Anorexia, Neutropenia, Failure to thrive, Feeding difficulties... ORPHA:79312
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Acute Lung Injury
Shock, Hypoxemia, Abnormality of serum cytokine level, Increased circulating surfactant protein l... ORPHA:178320
Whipple Disease
Myocarditis, Pleuritis, Splenomegaly, Gastrointestinal hemorrhage, Uveitis, Diarrhea, Abdominal p... ORPHA:3452
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Feeding difficulties in infancy, Villous atrophy, Thrombocytopenia, Failure to thr... OMIM:616050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Feeding difficulties in infancy, Hypoglycemia, Vomiting, Failure t... OMIM:606528
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Esophageal varix, Recurrent infections, Sple... ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating antibody level, Splenomegaly, Dysgammaglobulinemia, Vasculitis... OMIM:308240
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased adipose tissue around the neck, Abnormal atrioventricular condu... ORPHA:280365
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus, Insulin resistance OMIM:612227
Bloom Syndrome
Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, Decreased circ... ORPHA:125
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Thymic Aplasia
Sinusitis, Autoimmunity, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida in... ORPHA:83471
Propionic Acidemia
Hepatomegaly, Eczema, Feeding difficulties in infancy, Hypoglycemia, Neutropenia, Vomiting, Tachy... OMIM:606054
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Autoimmunity, Myocarditis, Right ventricular failure, Paroxysmal dyspnea,... ORPHA:563
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... ORPHA:225
Necrotizing Enterocolitis
Shock, Hyponatremia, Bloody diarrhea, Leukocytosis, Neutropenia, Vomiting, Peritonitis, Hyperglyc... ORPHA:391673
Postinfectious Vasculitis
Severe varicella zoster infection, Rheumatoid factor positive, Raynaud phenomenon, Recurrent cand... ORPHA:48435
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Recurrent infections, Anemia, Splenomeg... OMIM:615285
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Hypertension, Polyphagia, Episodic hemolytic anemia, Abnormal dental enamel morpho... ORPHA:251004
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Pustule, Vomiting, Failure to thrive, Recurrent pneumonia, Recurrent bronchiolitis,... OMIM:616069
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Pleuritis, Septic arthritis, Pleural empyema, Intussusception, Diabet... ORPHA:544482
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Jaundice, Increased circulating ferritin concent... OMIM:603552
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Vomi... OMIM:212140
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Sepsis, Third degree atrioventricular block, Cleft palate, Increased feca... OMIM:619573
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Legionnaires Disease
Myocarditis, Sepsis, Hepatitis, Splenomegaly, Abnormal lung morphology, Restrictive ventilatory d... ORPHA:549
Sepsis In Premature Infants
Neutropenia, Abnormal respiratory system physiology, Functional abnormality of the gastrointestin... ORPHA:90051
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Increased circulating ferritin concentra... ORPHA:158057
Immunodeficiency 46
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... OMIM:616740
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Abnormal intestine morphology, Decreased proportion of naive CD8 T cells, Neutropen... ORPHA:1830
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Sepsis, Thrombocytopenia, Pneumonia, Recurrent cutaneous abscess formati... ORPHA:229717
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Leukemia, Recurrent sinopulmonary infections, Periodon... ORPHA:486
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Erythroderma, Villous... OMIM:304790
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Decreased circulating antibody level, Splenomegaly, Increased circulating ferritin c... ORPHA:540
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia OMIM:615214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Chronic bronchitis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, P... OMIM:618986
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent opportunistic infections, Neutropenia in presence of anti-neutropil antibodi... OMIM:613179
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Feeding difficulties, Arthrogryposis multiplex congenit... OMIM:615547
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Immunodeficiency 37
Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... OMIM:616098
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Hepatosplenomegaly, Type I diabetes mellitus, Recurren... OMIM:606367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis,... OMIM:615381
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Autoimmunity, Hepatomegaly, Bronchiectasis, Recurrent bronchitis,... OMIM:240500
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegal... OMIM:614470
Staphylococcal Necrotizing Pneumonia
Sepsis, Increased circulating procalcitonin concentration, Pleural empyema, Diabetes mellitus, Re... ORPHA:36238
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
C3 Glomerulopathy
Autoimmunity, Hypertension, C3 nephritic factor positivity, Elevated circulating creatinine conce... ORPHA:329918
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Maturity-onset diabetes of the young, Feeding difficulties, Recurrent otitis media, ... ORPHA:254531
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Inflammatory abnormality of the skin, ... ORPHA:277
African Iron Overload
Increased circulating cortisol level, Hepatitis, Increased circulating ferritin concentration, Di... ORPHA:139507
Graves Disease, Susceptibility To, 1
Goiter, Polyphagia, Weight loss, Congestive heart failure, Hyperhidrosis, Graves disease OMIM:275000
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Feeding difficulties in infancy, Polyphagia ORPHA:177910
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Immunodeficiency 58
Eczema, Chronic bronchitis, Chronic otitis media, Decreased circulating antibody level, Recurrent... OMIM:618131
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Lipodystrophy, Re... ORPHA:86816
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... ORPHA:2137
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hypogonadotropic hypogonadism, Anemia, Arthritis, Elevated tra... OMIM:604250
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... ORPHA:412
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Vomiting, Respiratory paralysis, Tachycardia, Increased fecal copropo... OMIM:121300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Hypotonia-Cystinuria Syndrome
Feeding difficulties in infancy, Polyphagia, Failure to thrive, Hypocalcemia, Neonatal hypoglycem... OMIM:606407
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... ORPHA:189427
Prader-Willi Syndrome
Premature adrenarche, Gastroparesis, Decreased inhibin B level, Periodontitis, Diabetes mellitus,... ORPHA:739
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Portal fibrosis, Esophageal varix, Splenomegaly, Diarrhea, Abnormal erythro... ORPHA:370
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Neutropenia, Rheumatoid factor positive, Recurrent sta... OMIM:615816
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... OMIM:266600
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Failure to thrive, Decreased... OMIM:608809
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hypoglycemia, Decre... ORPHA:79319
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Respiratory insufficiency ORPHA:3188
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Type II diabetes mellitus, H... ORPHA:189439
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hypertension, Hepatomegaly, Hypoglycemia, Neutropenia, Hyperlipid... OMIM:232220
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmon... ORPHA:1163
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Diarrhea, Hemolyt... OMIM:308230
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Gaisböck Syndrome
Diabetes mellitus, Elevated plasma cell count, Increased circulating renin level, Hyperproteinemi... ORPHA:90041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Elevated circulating creatine kinase concentration, Abnormal glucose homeostasis, Naso... ORPHA:90117
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... OMIM:616516
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anorexia, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia,... OMIM:209950
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Vomiting, Hyperlipidemia, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... OMIM:615863
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Feed... ORPHA:79237
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Dorsocervical fat pad, Increased cir... OMIM:615830
Primary Sclerosing Cholangitis
Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatospl... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Thrombocytopenia, Myositis, Failure to thrive, Lipodystrophy, Panniculit... OMIM:617591
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Recurrent herpes, Neutropenia in presence of anti-neutropi... ORPHA:391487
Seckel Syndrome 10
Hypertension, Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucos... OMIM:617253
Bardet-Biedl Syndrome 16
Recurrent otitis media, Bronchiolitis, Hypogonadism, Respiratory distress, Obesity, Recurrent res... OMIM:615993
Cholesteryl Ester Storage Disease
Hepatomegaly, Nausea and vomiting, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosi... ORPHA:75234
Familial Chylomicronemia Syndrome
Nausea and vomiting, Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Periana... ORPHA:444490
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Vomiting, Leukopenia, Failure... OMIM:251000
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Mandibuloacral Dysplasia
High palate, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant ... ORPHA:2457
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure... OMIM:617475
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Cough, Esophageal carcinoma, Barrett esopha... ORPHA:99976
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Mucoi... OMIM:615767
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Colitis, Acne, Arthritis, Knee f... OMIM:604416
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Decreased ci... ORPHA:470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lo... ORPHA:331206
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Palpitations, Recurrent pancreatiti... OMIM:619290
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... OMIM:301033
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Recurrent infections, Rheumatoid factor positive, Splenomegaly, Crohn's disease, Hepatosp... OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Hepatitis, Recurrent infections, Decreased proportion of CD3-positive T cells, ... ORPHA:169160
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Distal arthrogryposis, Hypoglycemia, Vomiting, Elevated circulating creat... ORPHA:42
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Vomiting, Failure to thrive, Primary adrenal insufficiency, Hypogonad... OMIM:617872
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, High palate, Small for gestational age, Maturity-onset diabetes o... ORPHA:96184
Immunodeficiency 47
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Accessory spleen, Decre... OMIM:300972
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Maculopapu... ORPHA:98850
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly OMIM:617068
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Feeding difficulties in infancy, Neonatal hypoglycemia, Fasting hyperinsu... ORPHA:71212
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality o... ORPHA:26790
Granulomatosis With Polyangiitis
Sinusitis, Autoimmunity, Chronic otitis media, Pleuritis, Abnormality of the hypothalamus-pituita... ORPHA:900
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hy... OMIM:602579
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Celiac disea... OMIM:618969
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Vomiting, Nausea, Elevated circulating crea... ORPHA:79240
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased... OMIM:600351
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocy... OMIM:608898
X-Linked Acrogigantism
Abdominal distention, Abnormality of the pituitary gland, Fasting hyperinsulinemia, Sleep apnea, ... ORPHA:300373
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
6Q16 Microdeletion Syndrome
Obesity, Poor suck, Polyphagia ORPHA:171829
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Cirrhosis, Familial
Hypertension, Esophageal varix, Increased level of propylene glycol in blood, Abdominal distentio... OMIM:215600
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent sinopulmonary infections, Re... OMIM:243700
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Huntington Disease
Polyphagia, Abnormal circulating cholesterol concentration, Decreased body mass index, Choking ep... ORPHA:399
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Desquamative interstitial pneumonitis, Abnormal intestine morphology, Inter... OMIM:615952
Shigellosis
Myocarditis, Sepsis, Hypoglycemia, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Abnormal bl... ORPHA:810
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Eczema, Esophageal varix, Decreased circulating antibody level, Recurrent... OMIM:615688
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, Hepatomegaly, B lymphocytopenia, Erythroderma, P... OMIM:603554
Congenital Enterovirus Infection
Myocarditis, Sepsis, Leukocytosis, Infectious encephalitis, Neutropenia, Leukopenia, Hepatitis, A... ORPHA:292
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Diabetes me... ORPHA:811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Hypoglycemia, Hepatocellular necrosis, Vomiting, F... OMIM:251880
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Respiratory arrest, Hepatomegaly, Hepatoc... OMIM:201475
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Cholangitis, Abnormal intestine morpho... ORPHA:228426
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating antibody le... ORPHA:2442
Prader-Willi syndrome (Type 1)
Hypogonadism, Feeding difficulties in infancy, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Feeding difficulties in infancy, Truncal obesity DECIPHER:53
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Wheezing, Increased circulating cortisol level,... ORPHA:97287
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Sepsis, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Res... ORPHA:289916
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Feeding difficulties in infancy, Polyphagia ORPHA:411515
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta re... ORPHA:3261
Rhabdoid Tumor
Hypercalcemia, Hypertension, Nausea and vomiting, Respiratory insufficiency, Weight loss, Anemia,... ORPHA:69077
Caspase 8 Deficiency
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Feeding difficulties in infancy, Premature adrenarche, Gastroparesis, Decreased in... ORPHA:98754
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, Vomiting, Nausea, Hyperglycemia, ST seg... ORPHA:90065
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Weight loss, Rhinorrhea, Cough, Pancreatitis, Pulmonary ... ORPHA:188
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Granulocytopenia, Neutropenia, Failure to th... OMIM:302060
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Failure to thrive, Gastrostomy t... ORPHA:70472
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hyperammonemia, Episodic tachypnea, Jaundice, Inflammatory abnormality of... ORPHA:26793
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Feeding difficulties in infancy, Premature adrenarche, Gastroparesis, Decreased in... ORPHA:98793
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Respiratory insufficiency, Abnormal circulating lipid concentration, A... ORPHA:3191
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Neutropenia, Splenomegaly, Increased circulating ferritin concent... ORPHA:158048
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Feeding difficulties in infancy, Hypoketotic hypoglycemia, Elevated circulating cre... OMIM:255120
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Lung abscess, Protracted diarrhea, Gast... ORPHA:67
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Feeding difficulties in infancy, Premature adrenarche, Gastroparesis, Decreased in... ORPHA:177904
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hypertension, Hepatomegaly, Increased circulating interleukin 6, Sepsis, Thromb... OMIM:614034
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Hypohid... ORPHA:633
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Feeding difficul... ORPHA:263501
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Feeding difficulties in infancy, Premature adrenarche, Gastroparesis, Decreased in... ORPHA:177901
Perlman Syndrome
Hepatomegaly, High, narrow palate, Tall stature, Inguinal hernia, Abnormal pancreas morphology, H... ORPHA:2849
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Craniopharyngioma
Nausea and vomiting, Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes me... ORPHA:54595
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Acholic stools, Hepatocellular carcinoma, Weight loss, Cholelithia... ORPHA:65682
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... OMIM:619220
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Adipose tissue loss, Parotitis, Splenomegaly, Elevated circu... OMIM:256040
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... OMIM:268500
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Neutropenia, Splenomegaly, Maculopapular exanthema, Pancytopenia, Hemolyt... ORPHA:398124
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Autoimmunity, Sinusitis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemo... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, T lymp... OMIM:618108
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Obstructive sleep apnea, Polyphagia, Nasogastr... ORPHA:398079
Scedosporiosis
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... ORPHA:449280
Idiopathic Bronchiectasis
Productive cough, Wheezing, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... ORPHA:60033
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Ebola Hemorrhagic Fever
Sepsis, Dysphagia, Vomiting, Nausea, Leukopenia, Hepatitis, Cough, Melena, Gastrointestinal hemor... ORPHA:319218
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Nausea and vomiting, Macrocytic anemia, Respiratory insufficiency, Leukopenia, Anem... ORPHA:27
Magel2-Related Prader-Willi-Like Syndrome
Sleep apnea, Recurrent respiratory infections, Type II diabetes mellitus, Polyphagia, Absence of ... ORPHA:398069
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Cyclic Neutropenia
Sinusitis, Sepsis, Thrombocytopenia, Peritonitis, Decreased eosinophil count, Opportunistic infec... ORPHA:2686
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Chronic infection, Leukocytosis, Neutropenia, Normocytic anemia, Thrombocytosis, Me... ORPHA:75564
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Feeding difficulties in infancy, Elevated hepatic transaminase, Cough, Hepatic steatosis, Hepatos... OMIM:619013
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Small for gestational age, Feeding difficulties, Elevated circulating creatinine co... OMIM:616733
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis OMIM:161900
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Beta-Ketothiolase Deficiency
Hypertension, Hepatomegaly, Anorexia, Hypoglycemia, Leukocytosis, Vomiting, Thrombocytosis, Hyper... ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis, C... OMIM:618234
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Reye syndrome-lik... ORPHA:26791
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Anorexia, Gastrointestinal infarctions, Abnormal patte... ORPHA:3287
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Zygomycosis
Myocarditis, Sinusitis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Central hypothyroidism, Neutropenia, Iron deficiency anemia, Recurren... ORPHA:1667
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Abdominal distention, Recurrent infections... OMIM:246200
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98853
Prader-Willi-Like Syndrome
Central apnea, Feeding difficulties in infancy, Premature adrenarche, Gastroparesis, Decreased in... ORPHA:398073
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom... ORPHA:141152
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive ... OMIM:615559
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hypertension, Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, ... OMIM:619487
Immunodeficiency 52
Bronchiectasis, Failure to thrive, Coombs-positive hemolytic anemia, Increased proportion of gamm... OMIM:617514
Immunodeficiency 55
Eczema, Neutropenia, Recurrent infections, Recurrent skin infections, Diarrhea OMIM:617827
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Decreased liver functi... OMIM:614300
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Apnea, Hyperammonemia, Reye syndrome-like episodes, Acute pancreatitis, D... ORPHA:20
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, Eleva... ORPHA:98855
Polyarteritis Nodosa
Hypertension, Pericarditis, Weight loss, Pleuritis, Cardiomyopathy, Raynaud phenomenon, Abnormal ... ORPHA:767
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... ORPHA:369
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Failure to thrive, Feeding difficulties, Pulmonary arter... OMIM:605711
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Abdominal pain, Inflammation of the large intestine, Diabetes mellitus ORPHA:46487
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Marburg Hemorrhagic Fever
Hypoglycemia, Neutrophilia in presence of infection, Odynophagia, Hyperammonemia, Uveitis, Maculo... ORPHA:99826
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Sepsis, Neutropenia, Leukopenia, Macroglossia, Recurre... OMIM:617303
Graft Versus Host Disease
Stomatitis, Fasciitis, Recurrent infections, Hepatosplenomegaly, Dupuytren contracture, Maculopap... ORPHA:39812
Glycogen Storage Disease Ia
Hypertension, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hepatocellular carcinoma, Protuberant a... OMIM:232200
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Fatal liver failure in ... ORPHA:275761
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98863
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Hyperhomocystinemia, High palate, Tall stature, Failure to thrive,... OMIM:236200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Gastr... ORPHA:247598
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Ab... ORPHA:3260
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Autoimmunity, B lymphocytopenia, Recurrent viral infections, Decr... ORPHA:169079
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Decreased hepcidin level, Diabetes mellitus, Abnorm... ORPHA:101330
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Premature adrenarche, Abnormality of the hypothalamus-pituitary axis, Central hyp... ORPHA:293987
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Decreased serum insulin-like growth factor 1, Decreased circulating antibody level, Adren... ORPHA:293978
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Hyperglycemia, ... OMIM:615954
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Pfapa Syndrome
Hepatomegaly, Nausea and vomiting, Infectious encephalitis, Lymphadenopathy, Malabsorption, Arthr... ORPHA:42642
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Livedoid Vasculopathy
Autoimmunity, Hyperhomocystinemia, Hypertension, Leukocytosis, Superficial dermal perivascular in... ORPHA:542643
Congenital Pancreatic Cyst
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice ORPHA:313906
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Unconjugated hyperbilirubinemia, Intussusception, Colonic stenosis, Diarrhea, Ab... ORPHA:90038
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia, Respiratory insufficiency OMIM:618230
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Q Fever
Myocarditis, Thrombocytopenia, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenom... ORPHA:781
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Hepatomegaly, Sepsis, Cleft palate, High palate, Respiratory insu... OMIM:612541
Toxic Epidermal Necrolysis
Sepsis, Neutropenia, Gastrointestinal hemorrhage, Restrictive ventilatory defect, Recurrent respi... ORPHA:537
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
H Syndrome
Facial telangiectasia, Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Lipodystrophy, ... ORPHA:168569
Dopamine Beta-Hydroxylase Deficiency
Syncope, Hypoglycemia, Vomiting, Insulin resistance, Orthostatic hypotension, Orthostatic syncope... ORPHA:230
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Episodic vomiting, Congestive heart failure, Diabetes mellitus, Wolff-Parkinson-Whi... OMIM:540000
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Recurrent infections,... OMIM:301045
Riboflavin Transporter Deficiency
Hypertension, Dysphagia, Cachexia, Diabetes insipidus, Respiratory insufficiency, Hypogonadism, S... ORPHA:97229
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Eczema ORPHA:3055
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Wolff-Parkinson-White syndrome OMIM:614947
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Snoring, Pitu... OMIM:300942
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Extrapulmonary tuberculosis, Maculopapular exanthema, Elevated circulating C-... OMIM:619644
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Insulin-... ORPHA:2959
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Chronic bronchitis, Pneumonia, Decreased circulating antibody level, Recurrent infec... OMIM:614069
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitatio... ORPHA:401923
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Rigid Spine Syndrome
Hip contracture, Respiratory insufficiency, Pneumonia, Cardiac conduction abnormality, Hamstring ... ORPHA:97244
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Synovitis, Elevated circulating creatinine concentration, Arthritis, Serositis, Ski... ORPHA:567544
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Respiratory infections in early life, Large for gestational age OMIM:248110
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Infectious encephalitis, ... OMIM:267700
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... ORPHA:217390
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypertension, Hypomethioninemia, Neutropenia, Macrocytic anemia, Vomiting, I... ORPHA:2169
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Re... ORPHA:769
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kina... OMIM:212138
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... OMIM:606843
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Ddost-Cdg
Recurrent ear infections, Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroi... ORPHA:300536
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia, ... OMIM:618963
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Diarrhea, Decreased circu... OMIM:102700
3-Methylglutaconic Aciduria, Type Vii
Feeding difficulties, Recurrent infections, Neutropenia OMIM:616271
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Bardet-Biedl Syndrome 1
Hypertension, High, narrow palate, High palate, Aganglionic megacolon, Hepatic fibrosis, Insulin ... OMIM:209900
Sweet Syndrome
Dilated cardiomyopathy, Inflammation of the large intestine, Acne inversa, Recurrent infections, ... ORPHA:3243
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... OMIM:618534
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Prader-Willi Syndrome
Feeding difficulties in infancy, Adrenal insufficiency, Type II diabetes mellitus, Failure to thr... OMIM:176270
Stevens-Johnson Syndrome
Sepsis, Gastrointestinal hemorrhage, Restrictive ventilatory defect, Recurrent respiratory infect... ORPHA:36426
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Microsporidiosis
Myocarditis, Cholangitis, Sinusitis, Brain abscess, Sepsis, Hepatitis, Abdominal pain, Bronchitis... ORPHA:2552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... OMIM:608184
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Extracranial Carotid Artery Aneurysm
Autoimmunity, Hypertension, Abnormality of connective tissue, Total anomalous pulmonary venous re... ORPHA:494424
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Calcinosis, Hypocalcemic tetany, Pr... ORPHA:79443
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Thrombocytopenia, Anterior uveitis, Skin rash, Ileal ulcer, Lymphopenia, Lupus ... OMIM:616744
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... ORPHA:439232
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Small intestinal dysmotility, Diarrhea, Abdominal pain, Vomiting, Hypogonad... ORPHA:298
Fusariosis
Sinusitis, Brain abscess, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... ORPHA:228119
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Adiposis Dolorosa
Obesity, Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Tachycardia, ... ORPHA:264675
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia, Jau... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress, Feeding difficulties, Hepatic steatosis OMIM:615595
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension, C3 nephritic factor positivity, Hypoalbuminemia ORPHA:54370
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thrombocytopenia, Elevated hepatic transamin... ORPHA:99901
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Avian Influenza
Sepsis, Hepatitis, Respiratory failure, Diarrhea, Elevated circulating C-reactive protein concent... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Abnormal intestine morphology, Thrombocytosis, Pneumonia, Budd-Chi... OMIM:226300
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hyperlipoproteinemia, Type Ii, And Deafness