Gene Summary

Name:
nuclear receptor subfamily 3, group C, member 2
Synonyms:
mineralocorticoid receptor,  Mlr,  MR,  aldosterone receptor

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 startle reflex Nr3c2Nr3c2 HET Early adult 2.31×10-05

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.

Phenotype associated images not available

Human diseases caused by Nr3c2 mutations

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

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

The table below shows human diseases associated to Nr3c2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:177735
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115

The table below shows human diseases predicted to be associated to Nr3c2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H... OMIM:203400
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, D... ORPHA:556030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism... OMIM:177735
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... ORPHA:427
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, N... ORPHA:223
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... OMIM:601198
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary po... ORPHA:95409
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Dehydr... ORPHA:275761
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolem... ORPHA:31824
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... OMIM:143880
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le... ORPHA:89938
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Increa... ORPHA:168558
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium... OMIM:613090
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple... ORPHA:90041
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperactive renin-angioten... OMIM:214700
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Edema, Chronic kidney di... ORPHA:97362
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... OMIM:613845
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr... OMIM:601678
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... OMIM:602522
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... ORPHA:90794
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Neonatal... ORPHA:1667
Liddle Syndrome 1
Renal insufficiency, Decreased circulating aldosterone level, Hypokalemia, Decreased circulating ... OMIM:177200
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia ORPHA:28
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Intracranial hemorrh... ORPHA:369929
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Intracranial hemo... ORPHA:449285
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... ORPHA:47159
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos... OMIM:241200
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... ORPHA:79159
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... OMIM:612780
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failur... OMIM:602722
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Hereditary Coproporphyria
Dark urine, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Porphyrinuri... ORPHA:79273
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... ORPHA:361
Microvillus Inclusion Disease
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology, Dehydration ORPHA:2290
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Dehydratio... ORPHA:213
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur... ORPHA:289504
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Cardiomyopathy,... ORPHA:79312
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,... ORPHA:35710
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... OMIM:263800
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyperal... OMIM:615474
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Deh... ORPHA:94093
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hypokalemia, Adren... ORPHA:231632
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... OMIM:268200
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... ORPHA:199299
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia OMIM:616949
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... ORPHA:79473
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Apparent Mineralocorticoid Excess
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating al... OMIM:218030
Liddle Syndrome 2
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Dehydration, Leukopenia, Hypoalbuminemia, Abn... ORPHA:99826
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia... ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, I... OMIM:267700
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Elevated circ... OMIM:618183
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ... ORPHA:100924
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... ORPHA:90038
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... OMIM:251000
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,... OMIM:606054
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Arrhyt... ORPHA:57
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... ORPHA:95512
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated circulating a... OMIM:212140
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hypernatremia, Fail... OMIM:125800
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... ORPHA:69076
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Edema, Thrombocytopenia, ... ORPHA:79325
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... ORPHA:95513
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... OMIM:251120
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Elevated hepatic transaminase, Generalized edema, Hypertriglyceridemia, Pancytopeni... OMIM:603553
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... ORPHA:173
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... ORPHA:99845
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... ORPHA:90795
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Ovarian Hyperstimulation Syndrome
Generalized edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphe... ORPHA:64739
Cystinosis, Nephropathic
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha... OMIM:219800
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... ORPHA:549
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis,... ORPHA:810
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... ORPHA:91355
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... ORPHA:100083
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... ORPHA:284227
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... OMIM:251110
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration OMIM:601410
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... ORPHA:33355
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... OMIM:201810
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Hypothyroidism, Hashimoto thyr... ORPHA:83601
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Necrotizing Enterocolitis
Hyponatremia, Shock, Small for gestational age, Edema, Leukocytosis, Bradycardia, Hypotension, Ne... ORPHA:391673
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... OMIM:251100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... ORPHA:90790
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... OMIM:619377
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Cachexia, Myocardial infarction, Splenom... ORPHA:3452
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,... OMIM:557000
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Abnormal circulating enzyme concentration or activ... ORPHA:79276
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... ORPHA:699
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... ORPHA:534
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Hyperinsulinemia, Elevate... ORPHA:230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... ORPHA:79644
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Hypertension, Internal h... ORPHA:69077
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Anuria, Diabetes mellitus, Edema, Myocarditi... ORPHA:544482
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... ORPHA:97289
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... OMIM:615751
Vipoma
Dehydration, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Hypokalemia, Incr... ORPHA:97282
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia OMIM:243500
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Decreased liver function, Dehydration OMIM:602199
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive, Retinal telangiectasia OMIM:620157
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia OMIM:608688
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hyperammonemia, Dehydration, Fai... OMIM:615453
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Acute pancreatitis, Ketonuria, Cardiac arrest, Edema, Leukocytosis... ORPHA:20
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Chédiak-Higashi Syndrome
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... ORPHA:167
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... OMIM:263200
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... ORPHA:79324
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Central hypothyroidism, Wei... ORPHA:95427
Secondary Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Reduced circula... ORPHA:90363
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... ORPHA:79102
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... ORPHA:1764
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Leukocytosis, Hyperammonemia, Weight loss, Dehydration, Hypertension, Hyperuric... ORPHA:134
Aicardi-Goutieres Syndrome 9
Edema, Hypoalbuminemia, Micropenis, Hypothyroidism, Hemolytic anemia, Portal hypertension, Perica... OMIM:619487
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Hyponatremia, Portal hypertension, Oliguria, Hepatosple... ORPHA:731
Infant Botulism
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension ORPHA:178478
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Jaundice, Weight loss ORPHA:79238
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:618528
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive, Polyhydramnios, Dehydration OMIM:616069
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperh... ORPHA:79282
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... OMIM:259900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal p... ORPHA:29072
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ... ORPHA:85443
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventric... ORPHA:423
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Failure to thrive, Dehydration OMIM:618958
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614495
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys... ORPHA:85447
Liver Disease, Severe Congenital
Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Eleva... OMIM:619991
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... ORPHA:31826
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:614496
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Small for gestational age, Patent urachus OMIM:618252
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspartate aminotran... OMIM:227810
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Central hypothy... ORPHA:514
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity, Retinal telangiectasia OMIM:620155
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Systemic Capillary Leak Syndrome
Renal insufficiency, Pulmonary edema, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pedal ed... ORPHA:188
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Pedal edema, Large vess... ORPHA:49041
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter OMIM:188580
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... ORPHA:91500
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Abnormal blood ion concentration, Renal cyst, Dehydration, Aplasia/Hyp... ORPHA:79404
Pulmonary Blastoma
Weight loss ORPHA:64741
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ... ORPHA:2070
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... ORPHA:293987
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated hepatic transaminase, Dicarboxylic aciduria, Ele... ORPHA:42
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... OMIM:615962
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, Failure to thrive, Reduced circulating growth ... OMIM:615508
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau... ORPHA:160
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Dehydration OMIM:214150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkal... OMIM:608885
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Lamellar Ichthyosis
Renal insufficiency, Dehydration ORPHA:313
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ... ORPHA:2162
Diffuse Alveolar Hemorrhage
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... ORPHA:90060
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Cardiac ... ORPHA:139402
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Congestive heart failure, Dehydration, Leukopenia, 3-Methylglutaconic aciduria, N... OMIM:616271
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... ORPHA:466650
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... ORPHA:100085
Leishmaniasis
Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight... ORPHA:507
Dietary Iron Overload Disease
Viral hepatitis, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transf... ORPHA:139507
Autosomal Agammaglobulinemia
Failure to thrive, Hepatitis, Dehydration, Neutropenia ORPHA:33110
Japanese Encephalitis
Hyponatremia, Neutrophilia, Inappropriate antidiuretic hormone secretion, Cerebral edema, Pulmona... ORPHA:79139
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Somatostatinoma
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... ORPHA:97283
Primary Intestinal Lymphangiectasia
Lymphopenia, Edema, Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memory... ORPHA:90362
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... ORPHA:35858
Pituitary Adenoma 4, Acth-Secreting
Edema, Pituitary adenoma, Obesity, Nephrolithiasis, Increased circulating ACTH level, Hypertensio... OMIM:219090
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Pancytopenia, Elevated circula... ORPHA:562
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Tuberculosis
Weight loss ORPHA:3389
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... OMIM:610505
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... ORPHA:767
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Edema, Congenital hypoplastic anemi... ORPHA:77297
Microsporidiosis
Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethritis, Myocarditi... ORPHA:2552
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... OMIM:209950
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis,... OMIM:617671
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Abnormality of the kidney, Elevated circulating C-re... ORPHA:54251
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum... ORPHA:37042
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyr... ORPHA:143
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria ORPHA:1933
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Polymyositis
Gastrointestinal hemorrhage, Abnormal renal tubule morphology, Pericarditis, Elevated circulating... ORPHA:732
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... ORPHA:97287
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Hypotriglyceridemia... ORPHA:2298
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Intestinal Dysmotility Syndrome
Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration, Steatorrhea OMIM:615237
Familial Cold Urticaria
Dehydration, Hyperhidrosis ORPHA:47045
Glucagonoma
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... ORPHA:97280
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab... ORPHA:97278
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Organic aciduria, Hyperammonemia, Weight loss ORPHA:79242
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level OMIM:607398
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Wolman Disease
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Adrenal insuf... ORPHA:75233
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Weight loss, Elevated circ... ORPHA:67
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal... ORPHA:2494
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating alpha-feto... ORPHA:53035
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Cystic Echinococcosis
Elevated hepatic transaminase, Eosinophilia, Jaundice, Renal cyst, Weight loss, Membranous nephro... ORPHA:400
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne... ORPHA:97261
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Ascites, Weight loss ORPHA:2198
Yao Syndrome
Pericarditis, Xerostomia, Nephrolithiasis, Weight loss OMIM:617321
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... ORPHA:298
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatosis, Abnorma... ORPHA:900
X-Linked Agammaglobulinemia
Thrombocytopenia, Hepatitis, Weight loss, Hypocalcemia, Neutropenia, Failure to thrive, Anemia ORPHA:47
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia... ORPHA:681
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve... ORPHA:3208
Solitary Fibrous Tumor
Reduced C-peptide level, Weight loss, Urinary retention, Hypophosphatemic rickets, Hypoinsulinemia ORPHA:2126
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Preco... ORPHA:370348
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Congenital Tufting Enteropathy
Steatorrhea, Failure to thrive, Dehydration, Weight loss ORPHA:92050
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Ascites, Hypertension,... OMIM:610965
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Hematemesis, C... ORPHA:100075
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight ... ORPHA:449400
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma, Weight loss ORPHA:654
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Jaundice, I... ORPHA:905
Takayasu Arteritis
Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hyperhidrosis, Hypertension,... ORPHA:3287
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Hyperhidrosis, Promine... ORPHA:466677
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Increased circulating ferritin conce... OMIM:615846
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Steatorrhea, Weight loss, Iron def... OMIM:212750
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Polyhydramnios, Proteinuria, Cachexia ORPHA:2774
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Weight loss... ORPHA:520
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... ORPHA:1979
Huntington Disease-Like 2
Weight loss ORPHA:98934
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, M... ORPHA:100080
Harlequin Ichthyosis
Sudden cardiac death, Dehydration ORPHA:457
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Edema, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Anemia ORPHA:324964
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophil... ORPHA:183
Mercury Poisoning
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... OMIM:619573
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Elevat... ORPHA:171
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... ORPHA:36426
Rheumatoid Arthritis
Joint swelling, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Osteosarcoma
Abnormal lactate dehydrogenase level, Weight loss, Joint swelling, Elevated circulating alkaline ... ORPHA:668
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... ORPHA:71273
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Congestive heart failure, Weight los... ORPHA:35687
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis, Splenomegaly, Weight loss ORPHA:86893
Acquired Central Diabetes Insipidus
Pollakisuria, Diabetes insipidus, Weight loss ORPHA:95626
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Weight loss, H... ORPHA:100082
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Aredyld Syndrome
Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes mel... ORPHA:1133
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Hema... ORPHA:397
Follicular Lymphoma
Lymphedema, Splenomegaly, Pleural effusion, Weight loss ORPHA:545
Alveolar Echinococcosis
Eosinophilia, Portal hypertension, Jaundice, Pedal edema, Renal cyst, Weight loss, Abnormal splee... ORPHA:284
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... ORPHA:99867
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Weight lo... ORPHA:2902
Poems Syndrome
Diabetes mellitus, Polycythemia, Edema, Abnormality of the endocrine system, Pericardial effusion... ORPHA:2905
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Pleural Mesothelioma
Pleural effusion, Abnormal cardiovascular system physiology, Weight loss ORPHA:50251
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Gastrointestinal hemor... ORPHA:537
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, I... ORPHA:3226
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Cerebral vasculitis, Membranoprolife... ORPHA:48435
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Palpebral edema, Elev... ORPHA:93672
Hartsfield Syndrome
Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus OMIM:615465
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Cachexia ORPHA:3242
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia... ORPHA:797
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Hyperhidrosis, Weight loss ORPHA:99868
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Cystic Fibrosis
Hypercalciuria, Dehydration, Hepatosplenomegaly, Steatorrhea, Failure to thrive, Pancreatitis, Ex... OMIM:219700
Q Fever
Elevated hepatic transaminase, Pericarditis, Pericardial effusion, Thrombocytopenia, Splenomegaly... ORPHA:781
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydrogenase concentra... ORPHA:824
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Hyperhidrosis, Cardiomyopathy, Abnormal T-wave, Arrh... ORPHA:2131
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I... ORPHA:60025
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... ORPHA:769
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia ORPHA:157973
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema ORPHA:3165
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... ORPHA:249
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Failure to thrive, Anemia, Weight loss ORPHA:1842
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Riboflavin Transporter Deficiency
Cachexia, Hypertension, Hypogonadism, Diabetes insipidus ORPHA:97229
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Brucellosis
Pericarditis, Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive prot... ORPHA:1304
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Gastrointestinal hemorrhage, Portal hyperte... ORPHA:131
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia OMIM:174900
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Felty Syndrome
Recurrent urinary tract infections, Pericarditis, Thrombocytopenia, Splenomegaly, Weight loss, Ne... ORPHA:47612
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Huntington Disease-Like 2
Weight loss OMIM:606438
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Pheochromocytoma, Elevated circulating c... ORPHA:1332
Fatal Familial Insomnia
Hyperhidrosis, Urinary retention, Weight loss OMIM:600072
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Mulibrey Nanism
Cachexia ORPHA:2576
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Pancreatitis, Weight loss ORPHA:65682
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... ORPHA:747
Pyomyositis
Leukocytosis, Renal insufficiency, Sudden cardiac death, Weight loss ORPHA:764
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Juvenile Huntington Disease
Weight loss ORPHA:248111
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia OMIM:256500
Desmoplastic Small Round Cell Tumor
Anemia, Ascites, Cachexia, Weight loss ORPHA:83469
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Failure to thrive, Enlarged kidney ORPHA:79128
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Weight loss ORPHA:33276
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Cachexia, Lymphedema ORPHA:2930
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Abnormal circulating creatine concentration, Pituita... ORPHA:440437
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Hyperhidrosis, ... ORPHA:813
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Palpebral edema, Elevated circulating C-reactive protein concentra... ORPHA:50918
Gm1 Gangliosidosis
Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Cardiom... ORPHA:354
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Malignant Peritoneal Mesothelioma
Ascites, Pedal edema, Weight loss ORPHA:168811
Pfapa Syndrome
Splenomegaly, Weight loss ORPHA:42642
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Classic Hodgkin Lymphoma
Hyperhidrosis, Splenomegaly, Weight loss ORPHA:391
Pneumocystosis
Abnormal neutrophil count, Pleural effusion, Increased circulating lactate dehydrogenase concentr... ORPHA:723
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... ORPHA:71493
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Weight loss, Isch...</