banner
Genes Phenotypes Help, News, Blog

Gene: Rsad2 MGI:1929628

Log in to follow

Gene Summary

Name:
radical S-adenosyl methionine domain containing 2
Synonyms:
2510004L01Rik,  viperin,  cig5,  Vig1

Order Alleles

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
increased circulating potassium level Rsad2em1(IMPC)H HOM Late adult 4.33×10-13
abnormal behavior Rsad2em1(IMPC)H HOM Early adult 2.56×10-05
increased circulating phosphate level Rsad2em1(IMPC)H HOM Early adult 1.10×10-05
decreased locomotor activity Rsad2em1(IMPC)H HOM Early adult 2.40×10-06
increased circulating alkaline phosphatase level Rsad2em1(IMPC)H HOM   Late adult 4.72×10-05
increased circulating serum albumin level Rsad2em1(IMPC)H HOM Late adult 6.16×10-05
decreased thigmotaxis Rsad2em1(IMPC)H HOM Early adult 2.13×10-05
increased circulating creatinine level Rsad2em1(IMPC)H HOM Late adult 3.94×10-16

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Echo

M-Mode Images

75 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

15 Images

View images

Human diseases caused by Rsad2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rsad2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 24
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... OMIM:615897
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... OMIM:606843
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... OMIM:618944
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620126
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:620125
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Hypoparathyroidism
Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Depression, Hypoca... ORPHA:36913
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... OMIM:613502
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia OMIM:613752
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... OMIM:613500
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:610600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Decreased circulating renin level, Hyperkalemia OMIM:614492
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Immunodeficiency 95
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level OMIM:619773
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:203400
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia OMIM:177735
Saccharopinuria
Hyperammonemia, Hyperlysinuria, Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Abnor... ORPHA:3124
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating N,N-dimethylglycine concentration, Elevated circulating creatine kinase conc... OMIM:605850
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... OMIM:618969
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Pseudohypoparathyroidism Type 1B
Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Depression, Hypoca... ORPHA:94089
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Genetic Recurrent Myoglobinuria
Difficulty walking, Hyperphosphatemia, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells... OMIM:618534
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:611926
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia OMIM:615214
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556037
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Autosomal Dominant Hypocalcemia
Emotional lability, Anxiety, Hyperphosphatemia, Hypocalcemia, Depression, Hypomagnesemia ORPHA:428
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:556030
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 lev... OMIM:300310
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:601859
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:682
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pseudohypoparathyroidism Type 1C
Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemia, Depression, Hypoca... ORPHA:79444
Neuroleptic Malignant Syndrome
Hyperuricemia, Anxiety, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:619510
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration OMIM:620138
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... OMIM:613095
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Irritability, Hypocalcemi... ORPHA:79443
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Hepatosplenomegaly, Increased circulating antibody level, Decrea... ORPHA:169154
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Decreased proportion ... ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... OMIM:619774
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:171876
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia OMIM:300971
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... OMIM:616005
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... ORPHA:64753
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:614069
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating t... OMIM:619802
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... OMIM:301081
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Liddle Syndrome
Hypokalemia ORPHA:526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Decreased circulating IgG level, Parti... OMIM:240500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... OMIM:619652
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:427
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... OMIM:603909
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... ORPHA:169160
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Waddling gait,... ORPHA:157215
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Leukopenia, Lymphopenia, Decreased circulating IgG level, Spleno... OMIM:620210
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Decreased proportion of memory B cells, Increased CD4:CD8 ratio,... OMIM:618048
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Increased blood urea nitrogen, Depression, Hypercalcemia ORPHA:94059
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Impaired Ig class switch recombination, Hemolytic anemia, Neutro... OMIM:308230
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... OMIM:619752
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... OMIM:616100
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Exercise-Induced Malignant Hyperthermia
Ataxia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypo... ORPHA:466650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614878
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Hyperuricemia, Elevated circulating creatinine concentration ORPHA:79233
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... ORPHA:276
Relapsing Fever
Increased total bilirubin, Elevated circulating C-reactive protein concentration, Elevated circul... ORPHA:91547
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures, Irritability, Hypocalcemia OMIM:264700
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly OMIM:618495
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Leishmaniasis
Hypoalbuminemia ORPHA:507
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Immunodeficiency 22
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... OMIM:615758
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Difficulty walking OMIM:600081
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Depression, Hypermagnesemia, Hypophosphatemia OMIM:600740
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Hypophosphatemia, Difficulty walking OMIM:277440
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... OMIM:243700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Difficult... OMIM:241530
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Cystinosis
Gait disturbance, Hypokalemia, Hypophosphatemia ORPHA:213
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Aminoaciduria, Hypocalce... ORPHA:411634
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures, Irritability, Hypocalcemia ORPHA:289157
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... OMIM:608836
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... OMIM:275350
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:199299
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia ORPHA:90791
Acute Adrenal Insufficiency
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:95409
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased specific anti-polysaccharide antibody level, Hemolytic anemia, Decr... OMIM:606367
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Thyrotoxic Periodic Paralysis
Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Corticosteroid-Binding Globulin Deficiency
Hypokalemia OMIM:611489
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Genera... OMIM:251880
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Decreased serum creatinine OMIM:618885
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Hereditary Fructose Intolerance
Lethargy, Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia ORPHA:280651
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... ORPHA:2442
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Tyrosinosis
Hypertyrosinemia OMIM:276800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, M... OMIM:619743
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
Familial Glucocorticoid Deficiency
Hyponatremia, Hyperkalemia ORPHA:361
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
East Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia ORPHA:199343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hyperuricemia, Elevated circulating creatinine concentration OMIM:174000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... OMIM:242860
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... ORPHA:3261
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Abnormal circulating selenium concentration, Decreased plasma carnitine, De... ORPHA:89842
Addison Disease
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hyponatremia, Hypercalcemia ORPHA:85138
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:614700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Pgm3-Cdg
Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Leukopenia... ORPHA:443811
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Agammaglobulinemia, X-Linked
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... OMIM:300755
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:175500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:168558
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... ORPHA:289548
Wilson Disease
Hypouricemia, Increased circulating copper concentration, Hyperbilirubinemia, Aminoaciduria, Decr... OMIM:277900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:49041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Hypoa... ORPHA:37042
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia OMIM:619487
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Hyperkalemia ORPHA:293978
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Decreased HDL cholesterol concentrat... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia OMIM:613090
Fibrous Dysplasia Of Bone
Hypercalcemia, Antalgic gait, Hypophosphatemia, Difficulty walking ORPHA:249
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hypercholesterolemia, Hyperkalemia ORPHA:275761
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, H... ORPHA:90363
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Dent Disease 1
Hypophosphatemia OMIM:300009
Marburg Hemorrhagic Fever
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... ORPHA:99826
Mccune-Albright Syndrome
Inappropriate sexual behavior, Hypophosphatemia ORPHA:562
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperuricemia, Bicarbonaturia, Hyperbilirubinemia, Lethargy OMIM:229600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:612780
Immunodeficiency 47
Decreased circulating total IgM, Leukopenia, Normocytic anemia, Decreased circulating total IgA, ... OMIM:300972
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid co... ORPHA:2298
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... OMIM:208900
Opsismodysplasia
Hypophosphatemia OMIM:258480
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Decreased circulating I... OMIM:612301
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Anxiety, Hypokalemia, Hyponatremia, Self-injurious behavior, Hypoammonemia, Dep... ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Mercury Poisoning
Hypokalemia ORPHA:330021
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Pearson Syndrome
Hypophosphatemia, Ataxia, Hyperalaninemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:699
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Hypocalcemia, Aminoaciduria, Hyponatremia, Calcinosis OMIM:617913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Raine Syndrome
Hypophosphatemia OMIM:259775
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... OMIM:219800
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449432
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Elevated circulating creatinine concentration OMIM:137920
Gitelman Syndrome
Increased circulating renin level, Hypokalemia, Hypomagnesemia OMIM:263800
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperlipidemia, Hyponatremia, Hyperkalemia ORPHA:293987
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Bartter Syndrome, Type 1, Antenatal
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... OMIM:601678
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia OMIM:619377
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Hyponatremia, Hyperkalemia ORPHA:90794
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Elevated circulating crea... ORPHA:99829
Bartter Syndrome Type 4
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia ORPHA:89938
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets ORPHA:289176
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness