Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
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 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Persistent CMV viremia, Increased circulating IgG level, Increased circula... |
OMIM:619220 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Immunodeficiency 25 |
|
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... |
OMIM:610163 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... |
OMIM:618459 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, I... |
OMIM:615513 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:243700 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Recurrent infections, Increased circulating IgG level, Increased... |
OMIM:618534 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac... |
OMIM:193670 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Inc... |
OMIM:618495 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Persistent EBV viremia, Recurrent sin... |
OMIM:620282 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Recurrent bronchitis |
OMIM:312863 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis... |
OMIM:212050 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:607594 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Decreased circulating IgG2 level |
ORPHA:2571 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections |
OMIM:615214 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... |
ORPHA:169160 |
Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... |
OMIM:615592 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... |
OMIM:618048 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Immunodeficiency 96 |
|
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... |
OMIM:615577 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... |
ORPHA:217390 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Severe cytomegalovirus infection, Decreased circulating total IgM, Increased circulating IgE leve... |
OMIM:617638 |
Immunodeficiency 37 |
|
Recurrent infections, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Chronic decreased circulating t... |
OMIM:613496 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Activated Pi3K-Delta Syndrome |
|
Severe varicella zoster infection, Recurrent tonsillitis, Decreased circulating antibody level, S... |
ORPHA:397596 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... |
OMIM:308230 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease... |
ORPHA:540 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Severe infection |
ORPHA:206594 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... |
OMIM:308240 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Recurrent respiratory infections, Increased circulating antibody ... |
OMIM:614470 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic... |
OMIM:147060 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... |
OMIM:615559 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... |
OMIM:620210 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, BCGitis, Recurrent infections, Impaired oxidative burst, Abnorm... |
OMIM:226990 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Angiostrongyliasis |
|
Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo... |
ORPHA:74 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... |
OMIM:618282 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... |
OMIM:618394 |
Igg4-Related Aortitis |
|
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... |
ORPHA:449400 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... |
OMIM:616005 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... |
ORPHA:331206 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... |
OMIM:616100 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level |
OMIM:618523 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... |
OMIM:619510 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:619752 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... |
OMIM:617241 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... |
OMIM:614878 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... |
OMIM:618986 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... |
OMIM:618213 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Recurrent infections, Recurrent respiratory infections, Increase... |
OMIM:615934 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:617388 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Abnormal B cell proliferation, Partial ab... |
OMIM:619652 |
Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... |
OMIM:615758 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Increased circulating IgA level, Recurrent viral infections, In... |
ORPHA:443811 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... |
ORPHA:35078 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
C3 Glomerulopathy |
|
Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas... |
ORPHA:329918 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... |
ORPHA:183675 |
Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... |
ORPHA:436159 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Pneumocystis jirovecii pneumonia, Recurrent infections, Bone marrow hypocellularity, Chronic oral... |
OMIM:301078 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ... |
OMIM:256500 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Cystinosis |
|
Type I diabetes mellitus, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Recurrent infections, Persistent EBV viremia, Decreased circulat... |
OMIM:613011 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... |
OMIM:606367 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Increased ... |
ORPHA:91139 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... |
ORPHA:1493 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Tick-Borne Encephalitis |
|
Meningitis, Unusual CNS infection, Increased circulating IgG level, Increased circulating IgM lev... |
ORPHA:297 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Decreased circulating ant... |
OMIM:619802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Decreased ci... |
OMIM:614700 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Increased circulating antibody level, Chronic oral candidiasis |
ORPHA:723 |
Tularemia |
|
Meningitis, Brain abscess, Increased circulating antibody level |
ORPHA:3392 |
Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Hypokalemia, Impaired glucose tolerance |
OMIM:219090 |
Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... |
ORPHA:634 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Infectious encephalitis, Severe... |
ORPHA:319251 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620040 |
Primary Intestinal Lymphangiectasia |
|
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, O... |
ORPHA:90362 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic decreased cirulating IgG2, Recurrent gastroenteritis, C... |
OMIM:615607 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... |
OMIM:102700 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis, BCGitis, P... |
OMIM:602450 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Prolidase Deficiency |
|
Recurrent pneumonia, Increased circulating antibody level, Recurrent infections |
OMIM:170100 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Zika Virus Disease |
|
Increased circulating IgM level, Infectious encephalitis, Meningitis |
ORPHA:448237 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Leishmaniasis |
|
Increased circulating antibody level |
ORPHA:507 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Adrenocortical Carcinoma |
|
Hypokalemia, Diabetes mellitus |
ORPHA:1501 |
Infantile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Lassa Fever |
|
Increased circulating IgM level, Sepsis |
ORPHA:99824 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Decreased circulating IgA level |
OMIM:242860 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... |
OMIM:607143 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
ORPHA:86816 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Increased circulating IgA level |
OMIM:616395 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Increased circulating IgA level, Reduced natural killer cell activity, Increase... |
OMIM:301000 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Increased circulating IgA level, Severe varicella zost... |
ORPHA:48435 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... |
OMIM:300972 |
Insulin-Resistance Syndrome Type B |
|
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... |
ORPHA:2298 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Sepsis |
ORPHA:319218 |
Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections |
ORPHA:2314 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Increased circulating IgE level |
OMIM:304790 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Coccidioidomycosis |
|
Coccidioidal meningitis, Invasive fungal infection, Unusual CNS infection, Increased circulating ... |
ORPHA:228123 |
Bloom Syndrome |
|
Recurrent herpes, Recurrent urinary tract infections, Severe varicella zoster infection, Recurren... |
ORPHA:125 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Recurrent infections |
OMIM:617591 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Increased circulating IgG4 level |
ORPHA:449427 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgM level, Increased circulating IgA level |
OMIM:617099 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Recurrent infections, Chronic oral candidiasis, Molluscum contag... |
OMIM:260920 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level |
ORPHA:2902 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449395 |
Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... |
ORPHA:358 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i... |
ORPHA:508 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
Riddle Syndrome |
|
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... |
ORPHA:420741 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Increased circulating IgE level |
OMIM:615508 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Recurrent bronchitis, Recurrent lower respiratory tract infectio... |
OMIM:208900 |
Cystic Echinococcosis |
|
Invasive parasitic infection, Increased circulating antibody level, Unusual infection |
ORPHA:400 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Increased circulating interleukin 6 concentration, Severe infection, Severe viral ... |
ORPHA:544482 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... |
OMIM:242840 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Reduced blood urea nitrogen, Hypophosphatemia, Glycosuria, Hypok... |
OMIM:219800 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, Type I diabetes mellitus |
ORPHA:199299 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level |
ORPHA:79078 |
Nelson Syndrome |
|
Hypokalemia, Type II diabetes mellitus |
ORPHA:199244 |
Primary Biliary Cholangitis |
|
Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... |
ORPHA:186 |
Pearson Syndrome |
|
Diabetes mellitus, Hypomagnesemia, Glycosuria, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyper... |
ORPHA:699 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Mgat2-Cdg |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:79329 |
Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent upper respiratory tra... |
OMIM:210900 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Recurrent infections |
OMIM:601675 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level, Infectious encephalitis |
ORPHA:1304 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Glycosuria |
ORPHA:97362 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:617053 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia |
ORPHA:90791 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Vipoma |
|
Hypokalemia, Diabetes mellitus, Hypercalcemia |
ORPHA:97282 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Recurrent infections, Decreased circulating antibody level, Dec... |
ORPHA:90363 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... |
ORPHA:508533 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Sepsis, Increased circulating IgM level, Bone marrow hypocellul... |
ORPHA:505248 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level |
ORPHA:449563 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level |
ORPHA:77259 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
Q Fever |
|
Unusual infection, Increased circulating antibody level, Cryoglobulinemia, Meningitis, Infectious... |
ORPHA:781 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... |
ORPHA:95409 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Bicarbonaturia, Glycosuria |
ORPHA:47159 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent infections |
OMIM:618278 |
Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, M... |
ORPHA:79139 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620005 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased circulating antibody level |
ORPHA:77261 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
Cysticercosis |
|
Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:223370 |
Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Addison Disease |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper... |
ORPHA:85138 |
Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia |
ORPHA:293978 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Recurrent infections, Decreased circulating total IgM, Recurrent... |
OMIM:619381 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Alveolar Echinococcosis |
|
Increased circulating antibody level |
ORPHA:284 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:619472 |
Yellow Fever |
|
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Opportunistic... |
ORPHA:99829 |
Aicardi-Goutieres Syndrome 7 |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level |
OMIM:615846 |
Primary Sjögren Syndrome |
|
Decreased circulating antibody level, Decreased circulating complement C3 concentration, Increase... |
ORPHA:289390 |
Lysinuric Protein Intolerance |
|
Decreased circulating antibody level, Abnormality of humoral immunity, Recurrent bacterial infect... |
ORPHA:470 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections |
ORPHA:500150 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |