Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Rsad2em1(IMPC)H HOM Late adult 3.94×10-16
decreased locomotor activity Rsad2em1(IMPC)H HOM Early adult 2.59×10-06
increased circulating potassium level Rsad2em1(IMPC)H HOM Late adult 4.33×10-13
decreased thigmotaxis Rsad2em1(IMPC)H HOM Early adult 9.56×10-06
increased circulating phosphate level Rsad2em1(IMPC)H HOM Early adult 1.10×10-05
increased circulating alkaline phosphatase level Rsad2em1(IMPC)H HOM   Late adult 4.72×10-05
increased cardiac stroke volume Rsad2em1(IMPC)H HOM   Late adult 9.33×10-05
abnormal behavior Rsad2em1(IMPC)H HOM Early adult 2.75×10-05
increased circulating serum albumin level Rsad2em1(IMPC)H HOM Late adult 6.16×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Echo

M-Mode Images

83 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 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
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:606685
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension OMIM:161900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:620125
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... OMIM:613752
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension OMIM:145260
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614495
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:203400
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level OMIM:610600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:36913
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Diarrhea 13
Hypoalbuminemia OMIM:620357
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Abnormal circulating p... ORPHA:103910
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion ORPHA:289601
Late-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556037
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension OMIM:614496
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level OMIM:177735
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Early-Onset Familial Hypoaldosteronism
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level ORPHA:556030
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Hypertension OMIM:603278
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficiency OMIM:602088
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Anemia, Decreased circulating complement C4 co... OMIM:620514
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hypotension, Hyperkalemia OMIM:264350
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Liddle Syndrome 1
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:177200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Familial Hypoaldosteronism
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... ORPHA:427
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration, Hypertension ORPHA:567544
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce... OMIM:620632
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... ORPHA:439232
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Hypotension, Hypertension, Reduced circulating cortisol-binding globulin concentration OMIM:611489
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hypertension OMIM:123550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Hypertension, Elevated circulating al... OMIM:613095
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension OMIM:616733
Coach Syndrome 2
Elevated circulating creatinine concentration, Hypertension OMIM:619111
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Arrhythmia, Myocardial infarction ORPHA:54057
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increased cir... OMIM:616050
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612924
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:218030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612926
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79444
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating protein concentration, Palpitations, Abnormal circulatin... ORPHA:86839
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy ORPHA:79327
C3 Glomerulopathy
Elevated circulating creatinine concentration, Hypertension ORPHA:329918
Mpi-Cdg
Hypoalbuminemia, Gastrointestinal hemorrhage, Portal hypertension ORPHA:79319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen OMIM:612925
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Polyphagia, Calci... ORPHA:79443
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia OMIM:614736
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations OMIM:188580
Preeclampsia
Elevated diastolic blood pressure, Elevated circulating creatinine concentration, Elevated systol... ORPHA:275555
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... ORPHA:542323
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Decreased proportion of CD4+CD25+ regulatory T cells, Reduced na... OMIM:619802
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hematochezia, Hypoalbuminemia ORPHA:2070
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Hypokalemia, Intracr... ORPHA:231625
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia ORPHA:2494
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Cystinosis
Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Motor stereotypy ORPHA:213
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Epistaxis, Hypertension, Decreased circulating renin level ORPHA:231632
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Shorten... ORPHA:79102
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Hypokalemia OMIM:174900
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia, Hypertension OMIM:617595
Acute Adrenal Insufficiency
Hypotension, Hyperuricemia, Hyponatremia, Hypovolemia, Orthostatic hypotension, Hyperkalemia, Hyp... ORPHA:95409
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Familial Hyperaldosteronism Type Ii
Hypokalemia, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... ORPHA:88618
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:613677
Familial Hyperaldosteronism Type I
Hypokalemia, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem... ORPHA:31824
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Pulmonary arterial hypertension, Second degree atrioventricular block, Hypertension OMIM:617021
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension ORPHA:231580
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:169160
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea... ORPHA:247353
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Vasculitis, Hypoalbuminemia OMIM:308240
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Budd-Chiari syndrome, Hypoproteinemia, Pulmonary embolism OMIM:226300
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Pulmonary venous hypertension ORPHA:90060
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Lethargy, At... ORPHA:466650
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Increa... ORPHA:230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Transient ischemic attack, Increased blood urea ni... OMIM:274150
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Difficulty walking, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia OMIM:613239
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea... OMIM:235400
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... OMIM:608836
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... ORPHA:36234
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypokalemia, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Cardiomyopathy, Hyperammonemia, Myocarditis ORPHA:292
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level ORPHA:90791
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Leishmaniasis
Hypoalbuminemia ORPHA:507
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Hypertension ORPHA:97362
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct... ORPHA:247691
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Congestive heart failure, Hyperbilirubinemia, Hypertyrosinem... OMIM:617156
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Prolonged QT interval, Atrial fibrill... ORPHA:31826
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia OMIM:600081
Vitamin D-Dependent Rickets, Type 2A
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Irritability OMIM:277440
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Difficulty walking, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemi... OMIM:241530
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia OMIM:174000
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormality of tumor necrosi... ORPHA:540
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Depression, Hypercalcemia OMIM:600740
Familial Glucocorticoid Deficiency
Hyponatremia, Hypotension, Hyperkalemia, Hypertrophic cardiomyopathy ORPHA:361
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat... ORPHA:85450
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Pulmonic stenosis, Hypernatremia OMIM:615508
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Mirage Syndrome
Hyponatremia, Intracranial hemorrhage, Hyperkalemia OMIM:617053
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... ORPHA:100924
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ... OMIM:307800
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:93160
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Intraventricular hemorrhage, Aminoaciduria, Elevated circulating creatine kinase... OMIM:619055
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Constrictive pericarditis, Congestive heart failure ORPHA:67
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... ORPHA:99826
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Portal hypertension, Elevated cir... OMIM:251880
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Addison Disease
Hypotension, Hyperuricemia, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypercalcemia, I... ORPHA:85138
Oncogenic Osteomalacia
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:352540
Hypocalcemic Vitamin D-Dependent Rickets
Difficulty walking, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertension, Decreased circulating renin level ORPHA:320
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:168558
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Polydipsia, Calcinosis OMIM:239200
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration OMIM:618885
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism ORPHA:567546
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hypokalemia, Pulmonary arterial hypertension, In... ORPHA:369929
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... ORPHA:289548
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Inc... ORPHA:49041
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:618329
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... ORPHA:436159
Hereditary Fructose Intolerance
Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia ORPHA:469
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hematochezia, Hypocalcemia, Hypomagnesemia OMIM:175500
Lysosomal Acid Lipase Deficiency
Hypotension, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hypertriglyceri... ORPHA:275761
Mercury Poisoning
Hypokalemia, Tachycardia, Hypotension, Hypertension ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:617303
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Portal hypertension, Hypertension, Increased blood pressure, Pericarditis OMIM:619487
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia ORPHA:90790
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Systolic heart murmur OMIM:617478
Cholera
Hypovolemic shock, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion conce... ORPHA:173
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... ORPHA:3243
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Reduced circulating transferrin ... ORPHA:90363
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Bartter Syndrome, Type 3
Hypokalemia, Hypotension, Hyperchloriduria, Increased circulating renin level OMIM:607364
Xfe Progeroid Syndrome
Hypoalbuminemia, Hypertension OMIM:610965
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Yellow Fever
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... ORPHA:99829
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, In... OMIM:617388
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Aortic regurgitati... OMIM:222470
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, Abnormal cir... ORPHA:14
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Oligomeganephronia
Elevated circulating creatinine concentration, Hypertension ORPHA:2260
Histidinemia
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia OMIM:235800
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Pulmonary arterial hypertension, Elevated circulating creatinine... ORPHA:232
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Cardiomyopathy, Pericarditis OMIM:212065
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Hypertension ORPHA:730
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hypertension OMIM:120330
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration ORPHA:363558
Gitelman Syndrome
Hypotension, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular tachycardia, Prolonged QT int... OMIM:263800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, ... ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Hypertension OMIM:617729
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypertension, Hypomagnesemia OMIM:612780
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension ORPHA:544482
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Polydipsia ORPHA:411629
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Melena ORPHA:79076
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Hypercholesterole... ORPHA:186
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration, Pulmonary hemorrhage, Arteritis, Small vessel vasc... ORPHA:93126
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Fibrous Dysplasia Of Bone
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait ORPHA:249
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Dent Disease 1
Hypophosphatemia OMIM:300009
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension OMIM:617913
Wilson Disease
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Hyperbilirubinemia, Increased circulating copper co... OMIM:277900
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Congestive heart failure, Arrhythmia, Myocarditis, Elevated circulat... ORPHA:2331
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Shock, Hyponatremia, Hyperkalemia, Hypochloremia, Hypovolemia ORPHA:90794
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Ataxia, Dysphagia ORPHA:699
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Hyperuricemia, Lethargy, Hypophosphatemia, Bicarbonaturia OMIM:229600
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Opsismodysplasia
Hypophosphatemia OMIM:258480
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Intracranial hemorrhage, Hypertension, Decreased circulating renin level ORPHA:90795
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Hyponatremia, Hypokalemia, Attention deficit hyperactivity d... ORPHA:534
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncope, Prolonged... OMIM:170390
Adrenocortical Carcinoma
Hypokalemia, Palpitations, Hypertension ORPHA:1501
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:99880
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:202010
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:143
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Low-to-normal bl... OMIM:601678
Osteopetrosis, Autosomal Recessive 7