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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
decreased fasting circulating glucose level Cd36em1(IMPC)Mbp HOM Early adult 1.53×10-07
decreased brain size Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology 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
enlarged spleen Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal bone structure Cd36em1(IMPC)Mbp HOM Late adult 1.05×10-10
abnormal skin morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
enlarged liver Cd36em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating triglyceride level Cd36em1(IMPC)Mbp HOM Late adult 1.05×10-07
enlarged heart Cd36em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Cd36em1(IMPC)Mbp HOM Late adult 0.00
increased heart weight Cd36em1(IMPC)Mbp HOM Late adult 5.63×10-06

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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

66 Images

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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 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
Prolonged bleeding time, Giant platelets, 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, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, Os... OMIM:610947
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth ... OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
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
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca... OMIM:616740
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Pterygium, Antecubital
Limited elbow extension, Posterior subluxation of radial head, Antecubital pterygium OMIM:178200
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... OMIM:610717
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... OMIM:608600
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Vomitin... ORPHA:71212
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia, Short stature ORPHA:366
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... OMIM:300635
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy,... OMIM:615863
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Muscle hypertrophy of the ... ORPHA:280365
Radial Heads, Posterior Dislocation Of
Posterior radial head dislocation, Limited elbow extension, Antecubital pterygium OMIM:179200
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Growth delay, High palate, Overfriendliness OMIM:618010
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Hepatosple... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura... OMIM:613101
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... OMIM:618969
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... ORPHA:488650
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal... ORPHA:528
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Secundum atrial septal defect, Recurrent upper respiratory tract infe... OMIM:614868
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp... ORPHA:66628
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp... ORPHA:179494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... OMIM:618987
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Sitosterolemia 2
Hypercholesterolemia, Tendon xanthomatosis, Elevated circulating sitosterol concentration OMIM:618666
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased circulating I... ORPHA:98813
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatomegaly... OMIM:613327
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abnormal T cell count, Abnormal B... ORPHA:331206
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis, Decreased circulating antibody level ORPHA:33355
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Decreased cir... OMIM:619281
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium OMIM:619339
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... ORPHA:276
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Diarrhea, Esophageal var... ORPHA:75234
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... OMIM:612714
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Temple Syndrome
Hypertriglyceridemia, Short stature, Small for gestational age, Maturity-onset diabetes of the yo... OMIM:616222
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Recurrent infec... OMIM:615122
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalb... OMIM:619868
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... ORPHA:158061
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi... ORPHA:90065
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Velopharyng... OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... OMIM:615381
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hype... OMIM:306000
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop... OMIM:619418
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Chronic diarrhea, Decreased circulating total IgM, T l... OMIM:619510
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... ORPHA:436159
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... ORPHA:540
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi... ORPHA:941
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo... ORPHA:77296
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Alg1-Cdg
Renal insufficiency, Sepsis, Recurrent infections, Abnormal heart morphology, Nephrotic syndrome,... ORPHA:79327
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert... ORPHA:79083
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Sepsis ORPHA:464370
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... ORPHA:464329
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... ORPHA:329249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... ORPHA:264580
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul... ORPHA:79237
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Anosmia, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:2057
Bartsocas-Papas Syndrome
Corneal opacity, Underdeveloped nasal alae, Ankyloblepharon, Sparse or absent eyelashes, Eyelid c... ORPHA:1234
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep... OMIM:557000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopeni... OMIM:614069
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:609016
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Insulin resistance, Insulin-re... ORPHA:79086
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystro... OMIM:248370
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98863
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia... ORPHA:79240
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Decreased ci... OMIM:617638
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic... ORPHA:309108
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, Re... OMIM:603553
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... OMIM:616100
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, In... OMIM:300755
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Hypoglycemia, Short stature, Hyperlipidemia, Osteoporosis, Growth delay... ORPHA:369
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... OMIM:617765
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Decreased circulating antibody level ORPHA:2572
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... ORPHA:71
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Otoonychoperoneal Syndrome
Upslanted palpebral fissure, Popliteal pterygium, Knee flexion contracture ORPHA:2793
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Splenomegaly, Thr... OMIM:617591
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... OMIM:615980
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Atrophic gastr... OMIM:614700
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... OMIM:178110
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Sple... ORPHA:79301
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Retinal dystrophy, Aplastic anemia, Pancreat... OMIM:617052
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Craniosynostosis, Elbow dislocation, Pterygium, Short nose ORPHA:93329
Seckel Syndrome 10
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo... OMIM:617253
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypo... OMIM:269840
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Chronic diarrhea, Decreased circulating antibody level, Weight ... ORPHA:90362
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Immunodeficiency 22
Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Retinal vasculitis, ... OMIM:615758
Spondylospinal Thoracic Dysostosis
Multiple pterygia OMIM:601809
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive, Hypoketotic h... OMIM:610768
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Knee ... OMIM:259450
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Wide nose, Skin rash, Craniosynostosis, Recurrent pneumonia, ... OMIM:147060
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Meningitis, Invasive fungal infection, Severe infection, Seve... ORPHA:83471
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest... OMIM:260400
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Meningitis ORPHA:33110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Fused cervical vertebrae OMIM:618469
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevate... OMIM:616828
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis, Pneumocystis carini... OMIM:620321
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Synophrys, Anosmia, Wide nasal bridge, Blepharophimosis, Thick eyebrow, Ptosis OMIM:210745
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Prolonged prothrombin time, ... OMIM:617941
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Laron Syndrome
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... ORPHA:633
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati... ORPHA:169154
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja... ORPHA:444490
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Overweight, Dilated cardiomyopathy, R... ORPHA:401923
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Hepatospl... OMIM:619013
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... OMIM:235200
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Delay... ORPHA:90674
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia OMIM:607250
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Facial palsy OMIM:182410
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
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, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Increased circul... OMIM:209950
Bruck Syndrome 2
Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture OMIM:609220
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:232400
Lichen Planopilaris
Pterygium, Hepatitis ORPHA:525
Cernunnos-Xlf Deficiency
Recurrent viral infections, Bulbous nose, Decreased circulating antibody level, Recurrent bacteri... ORPHA:169079
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Proteinuria, Sepsis, Hematuria, Nephritis OMIM:614034
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... OMIM:275350
Autosomal Recessive Multiple Pterygium Syndrome
Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abnormal eyelid morphology, ... ORPHA:2990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Lym... OMIM:102700
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased... OMIM:246700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Lymphopenia, Severe B lymphocytopenia, Portal hy... OMIM:620005
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ... OMIM:256500
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Iron defi... OMIM:269200
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Cataract, Palmar pits, Plantar pits, Wide nasal bridge... ORPHA:377
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Epicanthus, Pterygium, Multiple pterygia OMIM:177980
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Intermittent diarrhea, Hyperchole... ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Phaver Syndrome
Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Radioulnar synostosis, Pterygium, Do... ORPHA:2876
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... OMIM:608594
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Meningitis, Sepsis ORPHA:229717
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ... ORPHA:1333
Multiple Pterygium Syndrome, Escobar Variant
Ptosis, Epicanthus, Bilateral ptosis, Dysplastic patella, Patellar aplasia, Hip dislocation, Neck... OMIM:265000
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati... ORPHA:31825
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea... ORPHA:169160
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intestinal obstruction, Reduced circulating transf... ORPHA:90363
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... OMIM:269700
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Depressed nasal ridge OMIM:312150
Scedosporiosis
Unusual skin infection, Pericarditis, Invasive fungal infection, Fungal meningitis, Severe infect... ORPHA:449280
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo... ORPHA:464321
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia, Hepatic failure OMIM:177000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis ORPHA:47
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Failure to thrive, Small for gestational age, Hypoglycemia, Decreased circula... OMIM:607143
Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum OMIM:302950
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:412
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Sepsis ORPHA:289916
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lympho... OMIM:269920
Bruck Syndrome
Wormian bones, Pterygium ORPHA:2771
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... ORPHA:167
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
H Syndrome
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Short stature, Malabsorption, Abnormal ca... ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Depressed nasal ridge OMIM:253290
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Fetal Akinesia Deformation Sequence
Pterygium, Depressed nasal bridge, Camptodactyly of finger, Absent palmar crease ORPHA:994
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Smith-Magenis Syndrome
Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Precocious puberty, Hypothyroi... ORPHA:819
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Diabetes mellitus, Fa... ORPHA:456312
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... OMIM:615767
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage ORPHA:1980
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Recurrent p... OMIM:617303
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Pericarditis, Recurrent pha... ORPHA:47612
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation, Camptodactyly... ORPHA:284160
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased c... OMIM:603909
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy, S... OMIM:602579
Desmoid Tumor
Hydronephrosis, Sepsis ORPHA:873
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Depressed nasal bridge, Downslanted palpebral fissures, Patellar hypoplasia OMIM:119800
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... ORPHA:615
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholes... ORPHA:567548
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Hypothyroidism, Hepatomeg... ORPHA:79259
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Acitretin/Etretinate Embryopathy
Epicanthus, Anteverted nares, Antecubital pterygium, Hypoplastic nasal septum ORPHA:40366
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Decreased circulating antibo... ORPHA:100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh... OMIM:616263
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Optic atrophy, Decreased circulating antibody ... ORPHA:79330
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:615577
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Johanson-Blizzard Syndrome
Diabetes mellitus, Abnormality of the pancreas, Failure to thrive, Hypoproteinemia, Anemia, Exocr... ORPHA:2315
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t... OMIM:619774
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Optic nerve compression, Splenomegaly, Optic atrophy, Anemia, Decreased circulating... OMIM:612301
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
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Abnormality of the orbital region, Arthritis, Carpal oste... ORPHA:371428
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... OMIM:615237
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Protein-losing enteropa... ORPHA:79319
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Elevated circulating alkaline phosphatase concentra... OMIM:618268
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Optic nerve hypoplasia, Diarrhea, Abn... ORPHA:221139
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... OMIM:613313
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Lassa Fever
Increased circulating IgM level, Sepsis, Oliguria ORPHA:99824
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Lower limb muscle weakness, Decre... OMIM:606721
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... OMIM:601859
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Gastroesophageal reflux, Type I diabetes mellitus, Failure to thrive,... ORPHA:251009
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Hyponatremia, Hepatomegaly, Retinal pigment ... OMIM:219800
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose OMIM:614838
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Nasolacrimal duct obstruction, Palmoplantar hyperkeratosis, Bone marrow hypocel... OMIM:224230
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I... OMIM:238600
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Adrenal insufficiency, Lymphopenia, Hypothyr... OMIM:617575
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Cataract, Wide nasal bridge OMIM:224410
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... ORPHA:125
Musk, Inability To Smell
Anosmia OMIM:254150
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Diarrhea, Thyroiditis, Weight loss, Iron defici... OMIM:212750
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Myocardial infarction, Angina pectoris, Ov... ORPHA:90041
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis, BCGitis, P... OMIM:602450
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Underdeveloped nasal ala... OMIM:263650
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Rauch-Steindl Syndrome
Hepatomegaly, Hyperactivity, Aggressive behavior, Chronic constipation, Failure to thrive, Abnorm... OMIM:619695
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:411593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... ORPHA:261476
Hirschsprung Disease
Sepsis ORPHA:388
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P... ORPHA:276580
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis... OMIM:244400
Lambert Syndrome
Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah... ORPHA:1296
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate, Hypoalbuminemia, Hy... OMIM:616730
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... ORPHA:397596
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Recurrent pharyngitis, Myocarditis, Sepsis, Endoc... ORPHA:549
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Aural Atresia, Congenital
Hyposmia OMIM:607842
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Multiple Symmetric Lipomatosis