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Gene: Cd36 MGI:107899

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Gene Summary

Name:
CD36 molecule
Synonyms:
Scarb3,  FAT,  fatty acid translocase

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged liver Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
increased heart weight Cd36em1(IMPC)Mbp HOM Late adult 5.63×10-06
decreased circulating triglyceride level Cd36em1(IMPC)Mbp HOM Late adult 1.05×10-07
enlarged heart Cd36em1(IMPC)Mbp HOM Late adult 0.00
decreased fasting circulating glucose level Cd36em1(IMPC)Mbp HOM Early adult 1.53×10-07
enlarged spleen Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal bone structure Cd36em1(IMPC)Mbp HOM Late adult 1.05×10-10
decreased brain size Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
decreased fasting circulating glucose level Cd36em1(IMPC)Mbp HOM Late adult 5.86×10-15
eye hemorrhage Cd36em1(IMPC)Mbp HOM   Late adult 2.16×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

66 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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Histopathology

Images

3 Images

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Human diseases caused by Cd36 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.

The table below shows human diseases associated to Cd36 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404

The table below shows human diseases predicted to be associated to Cd36 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... OMIM:610947
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Hyperch... OMIM:232700
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Hypertension, Inc... OMIM:615238
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Increased LDL cholesterol concentration, Obesity, T... OMIM:615703
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Proximal muscle weakness in lower limbs, Proxima... ORPHA:435660
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper... OMIM:620211
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Meningitis, Decreased circulating antibody level, Chr... OMIM:616740
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a... OMIM:608898
Pterygium, Antecubital
Antecubital pterygium, Posterior subluxation of radial head, Limited elbow extension OMIM:178200
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 66
Meningitis, Sepsis, Defective T cell proliferation OMIM:618847
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Diarr... ORPHA:71212
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc... OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ... OMIM:300635
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Myocardial infarction, Hypertriglyceridemia OMIM:604091
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan... OMIM:612526
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Chronic diar... OMIM:300400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Villous atrop... OMIM:615863
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Loss of ... ORPHA:280365
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Radial Heads, Posterior Dislocation Of
Antecubital pterygium, Limited elbow extension, Posterior radial head dislocation OMIM:179200
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD... OMIM:607271
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu... OMIM:613101
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Pterygium Of Conjunctiva And Cornea
Pterygium, Abnormal conjunctiva morphology OMIM:178000
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Retinal vas... OMIM:618969
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Hyp... OMIM:613877
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Reduced circ... OMIM:618944
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased proportion of CD4-posit... ORPHA:66628
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Bullous Impetigo
Sepsis, Recurrent bacterial skin infections ORPHA:36237
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Sitosterolemia 2
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Decreased proportion of CD4-posit... ORPHA:179494
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperinsulinemia, Hepatomegaly, Tachycardia, Dysp... OMIM:613327
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Increase... ORPHA:98813
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating... ORPHA:276
Ethanolaminosis
Cardiomegaly OMIM:227150
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis, Decreased circulating antibody level ORPHA:33355
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Decreased circulating IgA l... OMIM:619281
Analbuminemia
Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole... OMIM:616000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... OMIM:612714
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, EBV meningitis, EBV encephalitis, Severe varicella zoster infection,... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Decreased circulating IgE, Sepsis, Pneumocystis carinii pneumoni... OMIM:308230
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cholesteryl Ester Storage Disease
Diarrhea, Adrenal calcification, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepato... ORPHA:75234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hepatic failur... ORPHA:158057
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, Intrauterine grow... OMIM:616222
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circul... OMIM:615952
Bartsocas-Papas Syndrome 2
Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Acute Lung Injury
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... ORPHA:178320
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Telangiectasia of the skin, Lipodystrophy, Loss of subcuta... OMIM:615381
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, C... ORPHA:90065
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomega... OMIM:306000
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Hypoglycem... OMIM:619418
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... ORPHA:1667
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Type I diabetes mellitus, Inflammation of th... ORPHA:436159
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating lactate de... ORPHA:158061
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Alg1-Cdg
Sepsis, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Nephrotic syndrome, Recur... ORPHA:79327
D-Glyceric Aciduria
Increased circulating free fatty acid level, Abnormal circulating enzyme concentration or activit... ORPHA:941
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Recurrent otitis... OMIM:243700
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperostosis frontalis interna, Hyperuricemia, Hypothy... ORPHA:77296
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Osteolysis, Hepatospl... ORPHA:464329
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Neonatal Alloimmune Neutropenia
Meningitis, Severe infection, Sepsis ORPHA:464370
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:254531
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Refr... OMIM:557000
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Skeletal m... ORPHA:2348
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Smith-Magenis Syndrome
Head-banging, Velopharyngeal insufficiency, Abnormal heart morphology, Abnormality of the thyroid... OMIM:182290
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Anosmia, Thick eyebrow, Ptosis, Blepharophimosis, Synophrys ORPHA:2057
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyc... OMIM:603813
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Aplasia/Hy... ORPHA:1234
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant d... ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Increased body weight, Hepatomegaly, Esophageal varix, Fasting hypoglycemia, Hypertrigl... ORPHA:264580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocytopenia, De... OMIM:614069
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure ORPHA:46532
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Lymphopenia, Complete or near-complete absence of specific antibody resp... OMIM:615401
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperlipidemia, Hepatom... ORPHA:369
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased lecithin cholesterol acyl transferase level, Decreased HDL choles... OMIM:245900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... OMIM:619313
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... OMIM:248370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... OMIM:603553
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ... OMIM:617638
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Increased body we... ORPHA:79240
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Agammaglobulinemia, X-Linked
Cor pulmonale, Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatom... OMIM:300755
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Decreased ... OMIM:616100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Postnatal growth retardati... ORPHA:96184
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce... OMIM:615980
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Chorioretinitis, Complete or near-complete a... OMIM:301081
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Citrullinemia Type Ii
Hypoalbuminemia, Vomiting, Diarrhea, Decreased body mass index, Decreased HDL cholesterol concent... ORPHA:247585
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Type I diabetes mellitus, Inflammation of th... OMIM:614700
Otoonychoperoneal Syndrome
Popliteal pterygium, Upslanted palpebral fissure, Knee flexion contracture ORPHA:2793
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Distal lower limb muscle weakness ORPHA:94124
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent s... OMIM:618986
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Heme Oxygenase 1 Deficiency
Nephritis, Sepsis, Hematuria, Proteinuria, Increased circulating interleukin 6 concentration OMIM:614034
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Lymphopeni... ORPHA:90362
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Long nasal bridge, Downslanted palpebral fissures, Carpal synostosis, Elbow ... OMIM:178110
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Spondylospinal Thoracic Dysostosis
Multiple pterygia OMIM:601809
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo... OMIM:617052
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Autosomal Agammaglobulinemia
Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Meningitis, Recurrent infections ORPHA:33110
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Vomiting, Diarrhea, Failure to thrive, Hypoketotic h... OMIM:610768
Immunodeficiency 22
Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Decreased circ... OMIM:615758
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Elbow dislocation, Pterygium, Anteverted nares, Craniosynostosis, Short nose ORPHA:93329
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplasti... OMIM:308240
Selective Igm Deficiency
Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot... ORPHA:331235
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... OMIM:260400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
T-Cell Immunodeficiency With Thymic Aplasia
Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent uri... ORPHA:83471
Glycogen Storage Disease Iii
Ventricular hypertrophy, Distal amyotrophy, Hypoglycemia, Cardiomyopathy, Hyperlipidemia, Myopath... OMIM:232400
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... OMIM:275350
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Central hypothyroidism, Failure to thrive, Volvulus, Villous atrophy, Abnorma... ORPHA:95427
Tangier Disease
Distal amyotrophy, Facial diplegia, Hypertriglyceridemia, Splenomegaly, Elevated circulating apol... OMIM:205400
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... OMIM:616873
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegal... OMIM:616828
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Tarsal synostosis, Fused cervical vertebrae, Fused thoracic vertebrae OMIM:618469
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch... ORPHA:470
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Pneumocystis carinii pneumo... OMIM:620321
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic... OMIM:617941
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, Thick eyebrow, Ptosis, Blepharophimosis, Synophrys OMIM:210745
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Growth... ORPHA:90674
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re... ORPHA:572
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Laron Syndrome
Severe short stature, Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnor... ORPHA:633
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otit... OMIM:307200
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, H... ORPHA:401923
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia OMIM:607250
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Immunodeficiency 27A
Hypoalbuminemia, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Weight... OMIM:209950
Bruck Syndrome 1
Ankle flexion contracture, Pterygium, Elbow flexion contracture, Knee flexion contracture, Hip co... OMIM:259450
Bruck Syndrome 2
Pterygium, Wormian bones, Elbow flexion contracture, Knee flexion contracture OMIM:609220
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Methanol Poisoning
Type I diabetes mellitus, Vomiting, Diarrhea, Permanent atrial fibrillation, Inflammatory arterio... ORPHA:31825
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Facial palsy OMIM:182410
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lichen Planopilaris
Pterygium, Hepatitis ORPHA:525
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Downslanted palpebral fissures, Camptodactyly of finger,... ORPHA:2990
Netherton Syndrome
Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ... OMIM:256500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El... OMIM:620005
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Cernunnos-Xlf Deficiency
Recurrent viral infections, Bulbous nose, Convex nasal ridge, Recurrent bacterial infections, Dec... ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Diarrhea, Failure to thrive, Increased circulating IgE level, Lymphopen... OMIM:102700
Chylomicron Retention Disease
Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia,... OMIM:246700
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Autoimmune Polyendocrine Syndrome, Type Ii
Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes mel... OMIM:269200
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Recurrent infection of the gastrointestinal tra... ORPHA:263501
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Phaver Syndrome
Depressed nasal bridge, Camptodactyly of finger, Pterygium, Downslanted palpebral fissures, Epica... ORPHA:2876
Isolated Agammaglobulinemia
Meningitis, Recurrent respiratory infections, Sepsis, Recurrent cutaneous abscess formation ORPHA:229717
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Scedosporiosis
Unusual CNS infection, Unusual skin infection, Sepsis, Invasive fungal infection, Fungal meningit... ORPHA:449280
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Pterygium, Epicanthus, Multiple pterygia OMIM:177980
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Umbilical hernia, Generalized muscular appearance from birth, Hyperinsulinemia, R... OMIM:608594
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Downslanted palpebral fissures, N... OMIM:265000
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Superficial d... OMIM:620632
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Vomiting, Secondary hyperaldosteronism, Decreased circulati... ORPHA:90363
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Ascites, Hypertro... ORPHA:464321
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Generalized muscular appearance from birth, Elevat... OMIM:269700
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Diarr... ORPHA:169160
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Joint dislocation, Multiple pterygia, Epicanthus, Vertebral fusion OMIM:312150
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior, Hypertriglyceridemia, High palate, Growth delay OMIM:618010
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis, Recurrent cutaneous abscess formation ORPHA:47
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure, Hypertriglyceridemia OMIM:177000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Ventricular ... OMIM:614876
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Tyrosinemia Type 1
Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car... ORPHA:882
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... OMIM:600649
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Failure to thrive, Hypoglycemia, Decreased circulating IgA level... OMIM:607143
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Bruck Syndrome
Pterygium, Wormian bones ORPHA:2771
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholest... ORPHA:412
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Retinal degeneration, Elevated cir... OMIM:277700
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Cataract, Anosmia, Short nasal septum, Short nose OMIM:302950
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Neutrophilia, Hepatomegaly, Tachycardia, Jau... ORPHA:99827
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis ORPHA:204
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Hepatomegaly, Autoimmune hemolytic... OMIM:603909
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased proportion of class-switched memory B c... OMIM:614878
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Joint dislocation, Multiple pterygia, Epicanthus, Vertebral fusion OMIM:253290
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Incre... ORPHA:167
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Sepsis, Hydroureter, Abnormal heart morphology OMIM:619362
Fetal Akinesia Deformation Sequence
Pterygium, Depressed nasal bridge, Absent palmar crease, Camptodactyly of finger ORPHA:994
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Gastroesophageal reflux, Failure to thrive in infanc... ORPHA:819
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Villous atrop... OMIM:602579
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Exocrine pancreatic insufficiency, ... ORPHA:456312
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio... ORPHA:169090
Desmoid Tumor
Hydronephrosis, Sepsis ORPHA:873
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Ascites, Tr... ORPHA:615
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Underdeveloped nasal alae, Downslanted pa... ORPHA:284160
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Sepsis, Bone marrow hypocellu... OMIM:617303
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... OMIM:616263
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Xanthelasma, Hepatomegaly, Osteopenia, Enterocolit... ORPHA:79259
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Depressed nasal bridge, Popliteal pterygium, Patellar hypoplasia, Downslanted palpebral fissures OMIM:119800
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur... ORPHA:47612
Mogs-Cdg
Decreased circulating IgG level, Optic atrophy, Decreased circulating IgA level, Hepatosplenomega... ORPHA:79330
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden... ORPHA:858
Lassa Fever
Sepsis, Oliguria, Increased circulating IgM level ORPHA:99824
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypophosphatemia, Weight loss, Hepatomegaly, Dysph... OMIM:219800
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Hypoglycemia, Decreased response to growth hormone stimulation t... OMIM:615577
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper... ORPHA:567548
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Sclerotic cranial sutures, Arthropathy, Arthritis, Abnormality of t... ORPHA:371428
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Epicanthus, Hypoplastic nasal septum, Anteverted nares ORPHA:40366
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Type II ... ORPHA:100
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Loss of subcutaneous a... OMIM:606721
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... OMIM:618268
Alagille Syndrome 1
Pigmentary retinopathy, Hepatic failure, Elevated circulating hepatic transaminase concentration,... OMIM:118450
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Anemia, Hypoproteinemia, Abnormality of the... ORPHA:2315
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai... ORPHA:79319
Prader-Willi Syndrome
Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Chronic constipation, Polypha... OMIM:176270
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Optic atrophy, Decreased circulating IgA level, Optic nerve comp... OMIM:612301
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc... ORPHA:93111
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Maternal Uniparental Disomy Of Chromosome 1
Type I diabetes mellitus, Gastroesophageal reflux, Failure to thrive, Panhypogammaglobulinemia, P... ORPHA:251009
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
H Syndrome
Hypogonadism, Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangiectasi... ORPHA:168569
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Hyposmia OMIM:614838
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Pterygium, Sparse eyelashes, Palmoplantar hyperkeratosis, Nasolacrim... OMIM:224230
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Cataract, Wide nasal bridge OMIM:224410
Musk, Inability To Smell
Anosmia OMIM:254150
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Diarrhea, Fail... OMIM:212750
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Renal insufficiency, Infectious encephalitis, Hematuria, Pro... ORPHA:549
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hepatomegaly, Hypercholesterolemia... OMIM:207750
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Adrenal insufficiency, Hypothyroidism, Hypertriglycer... OMIM:617575
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Bloom Syndrome
Insulin resistance, Decreased circulating IgG level, Gastroesophageal reflux, Decreased circulati... ORPHA:125
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Complete or ne... OMIM:233600
Intellectual Developmental Disorder, Autosomal Dominant 73
Recurrent otitis media, Bilateral single transverse palmar creases, Epiblepharon, Narrow palpebra... OMIM:620450
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Hirschsprung Disease
Sepsis ORPHA:388
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula... ORPHA:411593
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Pterygium, L... OMIM:263650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Sepsis, BCGitis, Panhypogammaglobulinemia, Increase... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent meningococc... OMIM:610984
Rauch-Steindl Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Chronic constipation, Aggressive behavior, ... OMIM:619695
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Weight loss, Abnor... ORPHA:2070
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f... OMIM:115197
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, High pa... OMIM:616730
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Pgm3-Cdg
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r... ORPHA:443811
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa... OMIM:619573
Xp21 Deletion Syndrome
Decreased muscle mass, Adrenal insufficiency, Primary adrenal insufficiency, Reduced bone mineral... ORPHA:261476
Activated Pi3K-Delta Syndrome
Failure to thrive, Decreased circulating antibody level, Splenomegaly, B lymphocytopenia, Hepatom... ORPHA:397596
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrahepatic biliary atresia, Jaundice, Decreased circ... ORPHA:1296
Aural Atresia, Congenital
Hyposmia OMIM:607842
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decreased adipo... OMIM:608612
Proteasome-Associated Autoinflammatory Syndrome 2