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Gene: Nr3c2 MGI:99459

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nr3c2Nr3c2 HOM   Early adult 0.00
increased startle reflex Nr3c2Nr3c2 HET Early adult 2.31×10-05
preweaning lethality, incomplete penetrance Nr3c2Nr3c2 HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

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
Hypotension, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hypera... 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
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt... OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldoste... ORPHA:556030
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Renal ... OMIM:264350
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hypera... OMIM:177735
Familial Hypoaldosteronism
Hypotension, Failure to thrive, Adrenal insufficiency, Hyponatremia, Hypovolemia, Decreased urina... ORPHA:427
Late-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldoste... ORPHA:556037
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Hyperna... ORPHA:223
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio OMIM:617027
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Abnormal circulating aldosterone, Glucocortocoid... ORPHA:171876
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Acute Adrenal Insufficiency
Weight loss, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal insufficie... ORPHA:95409
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkal... ORPHA:275761
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri... OMIM:607364
Colchicine Poisoning
Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi... ORPHA:31824
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss, Nocturia, Diabetes insipidus, Dehydration ORPHA:178029
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Nephrocalcinosis, Failure to thrive, Medullary n... OMIM:143880
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Bartter Syndrome Type 4
Chronic kidney disease, Severe failure to thrive, Renal salt wasting, Acute kidney injury, Increa... ORPHA:89938
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Polyhydramnios, ... OMIM:300971
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... OMIM:614736
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:613090
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Fai... ORPHA:90791
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Polyhydramnios, Hyperactive ren... OMIM:214700
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo... ORPHA:90041
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... ORPHA:97362
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:601678
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, ... OMIM:613845
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Hyperkalemia, Failure to thrive OMIM:143860
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil... OMIM:602522
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Renal salt wasting, Hyperkalemia, Abnormal circulating dehydro... ORPHA:90794
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir... OMIM:300539
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated c... ORPHA:1667
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Hyperammonemia, Anemia, Dehydration ORPHA:28
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... OMIM:613673
Snakebite Envenomation
Epistaxis, Acute kidney injury, Hypotension, Cardiogenic shock, Angioedema, Hypopituitarism, Cere... ORPHA:449285
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ... OMIM:241200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, H... OMIM:612780
Addison Disease
Adrenal calcification, Weight loss, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma... ORPHA:85138
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Nephrol... ORPHA:369929
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ... OMIM:602722
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Microvillus Inclusion Disease
Hypovolemia, Nephrocalcinosis, Dehydration, Abnormal renal physiology ORPHA:2290
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Failure to thrive, Renal insufficiency, Por... ORPHA:213
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hypercalciuria, Prolonge... ORPHA:251274
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Failure to thriv... ORPHA:289504
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Failur... ORPHA:99885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Pancreatiti... ORPHA:79312
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Failure to thrive, Maturity-onset diabetes of the young, Trans... ORPHA:99886
Cocaine Intoxication
Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Acute ... ORPHA:90068
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia,... OMIM:263800
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen... ORPHA:79273
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hyp... ORPHA:35710
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Nephrolithi... OMIM:615474
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... ORPHA:231580
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Elevated circulating alkaline phosphatase concentration, Myoglobinuria, Arrhyt... ORPHA:94093
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype... ORPHA:73224
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis... ORPHA:403
Alpha-Methylacetoacetic Aciduria
Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration, Reduced mitochondrial acetyl-... OMIM:203750
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat... OMIM:268200
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur... ORPHA:247353
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransferase level, Giant cel... OMIM:208085
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia OMIM:616949
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Porphyria Variegata
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Increased urinar... ORPHA:79473
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Elevated circul... ORPHA:99826
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231632
Combined Malonic And Methylmalonic Aciduria
Dehydration, Methylmalonic aciduria, Failure to thrive OMIM:614265
Congenital Isolated Acth Deficiency
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea... ORPHA:199296
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Pancreatitis,... ORPHA:27
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, An... OMIM:618183
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi... ORPHA:90038
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Generalized edema, Failure to thrive, Hemophagocytosis, Increased circulating fe... OMIM:267700
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... ORPHA:358
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concentration, Ab... ORPHA:100924
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Reduced circulating aldolase concentration, Myoglobinuria, Arrhythmia, Hyper... ORPHA:57
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Renal insufficiency, Decreased circulating ... OMIM:177200
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Cardiomyopathy, Pa... OMIM:606054
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac... OMIM:212140
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypotension, Pituitary adenoma, Failure to thrive, H... ORPHA:199299
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Hypotension, Increased circulating prolactin concentration, Decreased respons... ORPHA:91354
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Megacystis, Hypertonic dehydration, Nephrogenic diabetes insipidus, Polyuria, ... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Megacystis, Hypertonic dehydration, Polyuria, Diabetes insipidus, Hypernatremia OMIM:304800
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Lymphopenia, Adrenal insufficiency, Leukopenia,... OMIM:617053
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Ascites, Oligohydramn... ORPHA:79325
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Increased circulating lactate dehydrogenase con... ORPHA:99845
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Increased hema... OMIM:263400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Generalized edema, Elevated circulating hepatic transaminase concentration, Fail... OMIM:603553
Cholera
Hypovolemic shock, Acute kidney injury, Hypotension, Abnormal blood ion concentration, Hypocalcem... ORPHA:173
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating palmitoleylcarnitine c... OMIM:251120
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hypoadrenocorticism, Familial
Hyponatremia, Adrenal insufficiency, Hyperkalemia, Adrenal hypoplasia OMIM:240200
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Aminoaci... OMIM:219800
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Increased serum ... ORPHA:64739
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Abnormality of circulating cortisol lev... ORPHA:320
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Hematochezia, Dehydration, Weight loss, Abnormal circulating protein concentrati... ORPHA:103910
Legionnaires Disease
Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, H... ORPHA:549
Familial Renal Glucosuria
Nephropathy, Glycosuria, Recurrent urinary tract infections, Renal tubular dysfunction, Dehydration ORPHA:69076
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney dis... OMIM:251000
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, T... ORPHA:83601
Shigellosis
Hypovolemic shock, Acute kidney injury, Hepatic failure, Microangiopathic hemolytic anemia, Ureth... ORPHA:810
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulatin... OMIM:251110
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Abnor... ORPHA:284227
Isovaleric Acidemia
Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Elevated urin... OMIM:243500
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Dehydration OMIM:601410
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Elevated circulating carcinoembryonic antigen... ORPHA:100083
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Methylmalonic Aciduria, Cbla Type
Ketonuria, Failure to thrive, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity... OMIM:251100
Osteootohepatoenteric Syndrome
Failure to thrive, Increased serum bile acid concentration, Grade II vesicoureteral reflux, Prote... OMIM:619377
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Hyperkalemic Periodic Paralysis
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... ORPHA:682
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... OMIM:145600
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, M... ORPHA:3452
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Pulmonary edema, Glo... ORPHA:340
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal... ORPHA:90790
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, 3-Methylglutaric aciduria, R... OMIM:557000
Leprechaunism
Nephrocalcinosis, Long penis, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hype... ORPHA:508
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormality of th... ORPHA:411629
Necrotizing Enterocolitis
Hypotension, Ascites, Shock, Leukocytosis, Bradycardia, Hyponatremia, Neutropenia, Thrombocytopen... ORPHA:391673
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating aldoster... OMIM:218030
Chronic Hiccup
Weight loss, Dehydration ORPHA:396
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Abnormal c... ORPHA:79276
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini... ORPHA:230
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re... ORPHA:699
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Oculocerebrorenal Syndrome Of Lowe
Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Renal insufficiency,... ORPHA:534
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Acute kidney injury, Oliguria, Hypertensive crisis, Anuria, Edema, Hemolytic a... ORPHA:544482
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, ... ORPHA:1930
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level OMIM:608688
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
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
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Failu... ORPHA:293978
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Splenomeg... OMIM:617913
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypertension, Weight loss, Internal hemorrhage, Thrombocytopenia, Anem... ORPHA:69077
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension ORPHA:526
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:94080
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Dehydration, Decreased liver function, Neonatal death OMIM:602199
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive, Retinal telangiectasia OMIM:620157
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Acute hepa... OMIM:615453
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... ORPHA:97282
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc... OMIM:611590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Failure to thrive, Polyuria, Dehydration OMIM:560000
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Hydronephr... OMIM:615926
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Idiopathic Achalasia
Weight loss, Decreased circulating prealbumin concentration ORPHA:930
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anem... OMIM:611489
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:20
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc... OMIM:263200
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Atrioventricular block, Arterial occlusion, Hyperoxaluria, Renal insufficiency,... OMIM:259900
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... ORPHA:79324
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Anasarca, Secondary hyperaldoste... ORPHA:90363
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Low plasma citrulline, Weight ... ORPHA:95427
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Graves disease, Urinary retention, Second degree atrioventricular block, Hy... ORPHA:79102
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Increased circu... ORPHA:97289
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Incre... ORPHA:167
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Familial Dysautonomia
Renal insufficiency, Hyponatremia, Glomerulopathy, Hypohidrosis, Hyperhidrosis, Abnormality of th... ORPHA:1764
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Dehydration, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Th... ORPHA:134
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte... OMIM:614492
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... ORPHA:276621
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hypersplenism, Increased serum bile... ORPHA:731
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Weight loss, Glomerular sclerosis, As... OMIM:619487
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat... OMIM:613239
Infant Botulism
Hypotension, Xerostomia, Hyponatremia, Cardiac arrest, Hypertension ORPHA:178478
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Weight loss, Anemia ORPHA:100024
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Weight loss, Tubuloi... ORPHA:85450
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Hypertension, Failure to thrive, Dehydration OMIM:616069
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Acute hepatic failure, Supraventricular tachycardia, High... ORPHA:423
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Palpitations, Cereb... ORPHA:29072
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Elevated circulating aspartate aminotransferase conce... OMIM:618528
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Neutropenia, Jaundice, Methylmalonic acidemia, Renal insufficiency, Hydrops fe... ORPHA:79282
Glucose/Galactose Malabsorption
Hypertonic dehydration, Glycosuria, Failure to thrive OMIM:606824
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Elevated circulating alkaline pho... ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Dehydration OMIM:618958
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Patent urachus, Small for gestational age, Failure to thrive OMIM:618252
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... OMIM:171400
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... ORPHA:31826
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Arrhythmia, Weight loss, Abnormal renal phys... ORPHA:85447
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating an... OMIM:202010
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Liver Disease, Severe Congenital
Hyperbilirubinemia, Pulmonary edema, Jaundice, Hypospadias, Hypoproteinemia, Systolic heart murmu... OMIM:619991
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Elevated gamma-glutamyltransferase level, Intrahepatic c... OMIM:227810
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Enteric Anendocrinosis
Type I diabetes mellitus, Portal hypertension, Dehydration ORPHA:83620
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Pleural effusion, Leukocytosis, Pulmonary edema, Arrh... ORPHA:188
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Acute Monoblastic/Monocytic Leukemia
Oliguria, Central hypothyroidism, Increased circulating lactate dehydrogenase concentration, Hypo... ORPHA:514
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia, Retinal telangiectasia OMIM:620155
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu... ORPHA:79126
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss OMIM:612075
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Tubulointerstitial nephritis, Elevated circulating C-reactive protein concentration,... ORPHA:91500
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Weight loss, Elevated circulating C-reactive protein concentration, Nephrotic syndrome... ORPHA:49041
Diencephalic Syndrome
Long penis, Decreased body weight, Cachexia, Hyperhidrosis, Abnormality of the hypothalamus-pitui... ORPHA:1672
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... OMIM:604278
Glucocorticoid Deficiency 3
Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... OMIM:609197
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Hypokalemia, Weight loss, Hyperthyroidism, Tachycardia OMIM:188580
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Dehydration, Hyperammonemia, Hyperglutamatemia, H... ORPHA:3008
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Pulmonary Blastoma
Weight loss ORPHA:64741
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Ascites, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated... ORPHA:2070
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
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Hemat... ORPHA:90060
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Increased phosphoribosylpyrophosphate synthe... ORPHA:411536
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration ORPHA:634
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Stomatocytosis, Hemolytic anemia, Splenomegaly, Polyhyd... OMIM:608885
Castleman Disease
Restrictive cardiomyopathy, Anasarca, Ureteral obstruction, Renal insufficiency, Hematuria, Anemi... ORPHA:160
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Failure to thrive, Reduced circulating growth hormone concentrati... OMIM:615508
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Small for gestational age, Failure to thrive OMIM:214150
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute hepatic fai... ORPHA:139402
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Lamellar Ichthyosis
Renal insufficiency, Dehydration ORPHA:313
Holoprosencephaly
Abnormality of the urinary system, Failure to thrive in infancy, Panhypopituitarism, Abnormality ... ORPHA:2162
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati... ORPHA:635
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Thrombocytopenia,... OMIM:616271
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hepatic failure, Decreased liver function, Hypo... ORPHA:466650
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen... ORPHA:465508
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi... ORPHA:293987
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Insulin Autoimmune Syndrome
Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus ORPHA:411593
Autosomal Agammaglobulinemia
Neutropenia, Hepatitis, Failure to thrive, Dehydration ORPHA:33110
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100078
Japanese Encephalitis
Hyponatremia, Pulmonary edema, Neutrophilia, Cerebral edema, Inappropriate antidiuretic hormone s... ORPHA:79139
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Generalized edema, Hypomagnesemia, Ascites, Lymphopenia, Pleural effusion, Hypoc... ORPHA:90362
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Increased serum testosterone level, Increased circulating corti... OMIM:615962
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Cachexia, Weight loss... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Elevated circulat... OMIM:610505
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrolithiasis, Hypokalemia, Abdom... OMIM:219090
Neuroblastoma, Susceptibility To, 1
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... OMIM:256700
Polyarteritis Nodosa
Cardiomyopathy, Weight loss, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating ... ORPHA:767
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Neutropenia, Tubulointerstitial nephritis, Abnormal blood ion concentration, Nephrotic ... ORPHA:37042
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function... ORPHA:98850
Helix Syndrome
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi... OMIM:617671
Microsporidiosis
Nephritis, Hepatitis, Abnormality of the parathyroid gland, Dehydration, Urethritis, Abnormality ... ORPHA:2552
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Reduced hepatic glyoxylate reductase activity, Hyperoxaluria, Renal insufficien... OMIM:260000
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ... ORPHA:2298
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration ORPHA:1933
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Weight loss, Inc... OMIM:275000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Anemia, Weight loss, Abnormality of the ... ORPHA:54251
Parathyroid Carcinoma
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca... ORPHA:143
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Pleural effusion... ORPHA:29073
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Intestinal Dysmotility Syndrome
Polyhydramnios, Weight loss, Failure to thrive OMIM:620045
Congenital Short Bowel Syndrome
Steatorrhea, Failure to thrive, Dehydration OMIM:615237
Familial Cold Urticaria
Hyperhidrosis, Dehydration ORPHA:47045
Simple Cryoglobulinemia
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Renal insufficiency... ORPHA:91139
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia OMIM:175500
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Urethritis, Hematuria, Prostatitis, Weight loss, Abnormality o... ORPHA:449395
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Weight loss, Organic aciduria, Thrombocytopenia ORPHA:79242
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating c... ORPHA:97283
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Cachexia, A... ORPHA:75233
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur... ORPHA:67
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Dietary Iron Overload Disease
Abnormal thyroid morphology, Hepatitis, Increased circulating cortisol level, Increased circulati... ORPHA:139507
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Focal Myositis
Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Hepatitis, Increased circulating prolactin concentra... ORPHA:562
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Peripheral edema, Weight loss, Hypochromic microcyt... ORPHA:2494
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Failure to thrive OMIM:618426
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Ascites, Portal hypertension,... ORPHA:53035
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Hypotension, Right ventricular failure, Increased cir... ORPHA:97287
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Gastrointestinal hemorrhage, Weight loss ORPHA:2198
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Granulomatosis With Polyangiitis
Hematuria, Prostatitis, Weight loss, Arrhythmia, Periorbital edema, Elevated circulating C-reacti... ORPHA:900
X-Linked Agammaglobulinemia
Hepatitis, Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Thrombocytopenia, Anemia ORPHA:47
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Noncomp... ORPHA:3208
Congenital Tufting Enteropathy
Steatorrhea, Weight loss, Failure to thrive, Dehydration ORPHA:92050
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Glucagonoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating c... ORPHA:97280
Ppoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, I... ORPHA:97278
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci... OMIM:610965
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100075
Yao Syndrome
Weight loss, Xerostomia, Pericarditis, Nephrolithiasis OMIM:617321
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Weight loss, Elevated circulating ... ORPHA:90003
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Scorpion Envenomation
Pulmonary edema, Premature ventricular contraction, Arrhythmia, Tachycardia, Acute kidney injury,... ORPHA:466677
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentra... ORPHA:449400
Solitary Fibrous Tumor
Urinary retention, Hypophosphatemic rickets, Weight loss, Reduced C-peptide level, Hypoinsulinemia ORPHA:2126
Nephroblastoma
Hematuria, Weight loss, Hypertension, Nephroblastoma ORPHA:654
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c... OMIM:615846
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:100085
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Weight loss, Pul... ORPHA:3287
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Increased circulating lactate dehydrogenase concentration, Ascites, Elevated ... ORPHA:370348
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Weight... ORPHA:520
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia, Polyhydramnios ORPHA:2774
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:100080
Huntington Disease-Like 2
Weight loss ORPHA:98934
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:212750
Mercury Poisoning
Acute kidney injury, Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulat... OMIM:619573
Harlequin Ichthyosis
Sudden cardiac death, Dehydration ORPHA:457
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren... ORPHA:183
Grfoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, I... ORPHA:97261
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexi... ORPHA:1979
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:36426
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase ORPHA:681
Multiple Mitochondrial Dysfunctions Syndrome 7
Thrombocytopenia, Decreased liver function, Hyperglycinemia, Hypernatremia OMIM:620423
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce... OMIM:619381
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Edema ORPHA:324964
Erdheim-Chester Disease
Congestive heart failure, Xanthelasma, Renal insufficiency, Pleural effusion, Joint swelling, Hyd... ORPHA:35687
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Hematochezia, Hypotension, Elevated circulating hepatic transaminase c... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Hematochezia, Hypotension, Elevated circulating hepatic transaminase c... ORPHA:100082
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal circulating lactate dehydroge... ORPHA:668
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Syncope, Orthostatic hypotension, Ane... ORPHA:71273
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hyperhidrosis, Splenomegaly ORPHA:86893
Primary Sclerosing Cholangitis
Hypoalbuminemia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentratio... ORPHA:171
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites, Primary adren... ORPHA:2905
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Joint swelling OMIM:180300
Alveolar Echinococcosis
Decreased liver function, Budd-Chiari syndrome, Portal hypertension, Abnormal bladder morphology,... ORPHA:284
Follicular Lymphoma
Weight loss, Pleural effusion, Splenomegaly, Lymphedema ORPHA:545
Giant Cell Arteritis
Vasculitis, Hepatic failure, Epistaxis, Cerebral ischemia, Renal insufficiency, Hematuria, Arrhyt... ORPHA:397
Aredyld Syndrome
Type I diabetes mellitus, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Cac... ORPHA:1133
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Pleural effusion, Leukocytosis, Weight loss, Elevated circulating C-reactive p... ORPHA:2902
Acquired Central Diabetes Insipidus
Weight loss, Pollakisuria, Diabetes insipidus ORPHA:95626
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Weight loss, Glo... ORPHA:99867
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:537
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus ORPHA:317
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Pleural Mesothelioma
Abnormal cardiovascular system physiology, Weight loss, Pleural effusion ORPHA:50251
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal n... ORPHA:3226
Cystic Fibrosis
Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypercalciuria, Pancrea... OMIM:219700
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Postinfectious Vasculitis
Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Ischemic stroke, Orchitis, Hemat... ORPHA:48435
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin... ORPHA:93672
Sarcoidosis
Arrhythmia, Weight loss, Tubulointerstitial nephritis, Heart block, Renal insufficiency, Pleural ... ORPHA:797
Hartsfield Syndrome
Gonadotropin deficiency, Micropenis, Diabetes insipidus, Hypospadias, Hypernatremia OMIM:615465
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis, Palpebral edema, Edema ORPHA:99868
Q Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegal... ORPHA:781
Renpenning Syndrome
Cachexia, Hypospadias, Diabetes mellitus ORPHA:3242
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, H... ORPHA:2131
Rabson-Mendenhall Syndrome
Precocious puberty, Nephrocalcinosis, Long penis, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:769
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index ORPHA:399
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Congestive heart failure, Arrhythmia ORPHA:157973
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Muscular edema, Eosinophilia, Weight loss, Edema ORPHA:3165
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Elevated total serum tryptase, Chronic myelomonocytic leukemia, L... ORPHA:98849
Hereditary Central Diabetes Insipidus
Weight loss, Diabetes insipidus ORPHA:30925
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency... OMIM:233450
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Bone Dysplasia, Lethal Holmgren Type
Anemia, Weight loss, Failure to thrive, Hypertrophic cardiomyopathy ORPHA:1842
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Riboflavin Transporter Deficiency
Hypogonadism, Cachexia, Diabetes insipidus, Hypertension ORPHA:97229
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Brucellosis
Arteritis, Failure to thrive, Intrarenal abscess, Hypersplenism, Leukopenia, Pleural effusion, Le... ORPHA:1304
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Failure to thrive, Hypokalemia, Anemia OMIM:174900
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Felty Syndrome
Recurrent urinary tract infections, Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Ne... ORPHA:47612
Huntington Disease-Like 2
Weight loss OMIM:606438
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Weight loss, Abnormal circulating prot... ORPHA:747
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Fatal Familial Insomnia
Weight loss, Hyperhidrosis, Urinary retention OMIM:600072
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Hirschsprung Disease
Failure to thrive in infancy, Weight loss, Neoplasm of the thyroid gland ORPHA:388
Mulibrey Nanism
Cachexia ORPHA:2576
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Pancreatitis, Elevated circulating hepatic transaminase concentration ORPHA:65682
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Desmoplastic Small Round Cell Tumor
Ascites, Cachexia, Weight loss, Anemia ORPHA:83469
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Peripheral edema, Increased pulmonary vascula... ORPHA:60025
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Netherton Syndrome
Hypernatremic dehydration, Hypereosinophilia, Failure to thrive, Angioedema OMIM:256500
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pyomyositis
Weight loss, Renal insufficiency, Sudden cardiac death, Leukocytosis ORPHA:764
Juvenile Huntington Disease
Weight loss ORPHA:248111
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria... ORPHA:1018
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Pseudomyxoma Peritonei
Ascites, Weight loss ORPHA:26790
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Weight loss, Raynaud phenomenon, Enlarged kidney ORPHA:79128
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Elevated ... ORPHA:249
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Kaposi Sarcoma
Abnormality of the spleen, Weight loss, Lymphedema ORPHA:33276
Liposarcoma
Weight loss, Abnormality of the kidney ORPHA:69078
Systemic Lupus Erythematosus
Leukopenia, Hematuria, Proteinuria, Hypertension, Weight loss, Lupus nephritis, Raynaud phenomeno... ORPHA:536
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capillary fr... ORPHA:99889
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Cronkhite-Canada Syndrome
Anemia, Cachexia, Splenomegaly, Lymphedema ORPHA:2930
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Abnormality of the urinary system, Failure to thrive in... ORPHA:813
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Gm1 Gangliosidosis
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Splenomegaly, De... ORPHA:354
Kikuchi-Fujimoto Disease
Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulating lactat... ORPHA:50918
Malignant Peritoneal Mesothelioma
Ascites, Weight loss, Pedal edema ORPHA:168811
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Classic Hodgkin Lymphoma
Weight loss, Hyperhidrosis, Splenomegaly ORPHA:391
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating lactate dehydrogenase concentration... ORPHA:723
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... ORPHA:71493
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Cachexia, Neonatal death OMIM:618186
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss, Abnor... ORPHA:440437
Mcdonough Syndrome
Cachexia ORPHA:2471
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncope, Hyperthyr... OMIM:170390
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Abnormality of the low... ORPHA:679
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss, Pleural effusion ORPHA:411703
Riddle Syndrome
Enuresis nocturna, Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Weig... ORPHA:420741
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Hypogonadism,... ORPHA:84
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Oligohydramnios, Dehydration ORPHA:96191
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Slender build, Reduced tissue thymidine phosphor... OMIM:603041
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Renal insufficiency, Weight loss, Neutrop... ORPHA:79430
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Obesity, Weight loss, Hypospadias ORPHA:251071
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Dermatomyositis
Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction ORPHA:60033
X-Linked Creatine Transporter Deficiency
Cachexia, Abnormal circulating creatine concentration ORPHA:52503
Gallbladder Neuroendocrine Tumor
Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Ascites, Intermittent jaundice... ORPHA:100086
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Obesity, Cachexia, Hyperhidrosis, Hypoplasia of penis ORPHA:85293
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Decreased body weight, Nephrolithia... ORPHA:800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
19Q13.11 Microdeletion Syndrome
Cachexia, Hypospadias, Failure to thrive ORPHA:217346
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Cachexia, Melena... ORPHA:79076
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:191
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Weight loss, Iron defi... OMIM:301074
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Abnormality of the urinary system ORPHA:702
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Spastic/hyperactive bladder ORPHA:411602
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Camurati-Engelmann Disease
Urinary retention, Hypogonadism, Slender build, Leukopenia, Hypertrophic cardiomyopathy, Splenome... ORPHA:1328
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly, Edema ORPHA:33577
Short Syndrome
Weight loss, Diabetes mellitus ORPHA:3163
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Weight loss, Mildly elevated creatine kinase, Dilated cardiomyopathy OMIM:607459
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:100079
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Familial Pancreatic Carcinoma
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Hepat... ORPHA:1333
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Xerostomia, Nodular goiter, Weight loss, Thrombocytopenia, Tubulointerstitial nephr... ORPHA:79078
Bannayan-Riley-Ruvalcaba Syndrome
Lymphedema, Thyroid carcinoma, Hashimoto thyroiditis, Telangiectasia, Cachexia, Angina pectoris, ... ORPHA:109
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir... OMIM:164310
Infantile Krabbe Disease
Cachexia, Abnormal circulating enzyme concentration or activity, Failure to thrive, Abnormal hear... ORPHA:206436
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Weight loss, Delayed pube... OMIM:614162
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Chronic Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Xerostomia, Urinary bladder inflammation... ORPHA:99921
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Glossopharyngeal Neuralgia
Jaw claudication, Syncope, Weight loss, Bradycardia ORPHA:221098
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pleural effusion, Splenomegaly, Hypercalciuria, Weight loss, Pulmonary arterial hyp... OMIM:181000
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg... ORPHA:576
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Weight loss, Paraganglioma ORPHA:97286
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Chronic calcifying pancreatitis, Weight loss, M... ORPHA:103918
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract, Cachexia, Oligohydramnios ORPHA:3380
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Steatorrhea, Edema ORPHA:309031
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Parkinson Disease 4, Autosomal Dominant
Weight loss, Orthostatic hypotension OMIM:605543
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Perry Syndrome
Weight loss OMIM:168605
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Rett Syndrome
Cachexia, Prolonged QTc interval, Abnormal T-wave OMIM:312750
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Weight loss, Granulomatosis, Retinal hemorrhage, Localized pulmonary... OMIM:608710
Reactive Arthritis
Aortic regurgitation, Recurrent urinary tract infections, Joint swelling, Weight loss, Pericarditis ORPHA:29207
Choreoacanthocytosis
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... ORPHA:2388
Sandhoff Disease
Exaggerated startle response OMIM:268800
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia, Pollak... ORPHA:647
Oromandibular Dystonia
Weight loss ORPHA:93958
Malt Lymphoma
Anemia, Weight loss, Hyperhidrosis, Abnormality of the thyroid gland ORPHA:52417
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Rat-Bite Fever
Parotitis, Weight loss, Pancreatitis, Myocarditis, Anemia, Pericarditis ORPHA:31205
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Left ventricular systolic dysfunct... ORPHA:740
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Amyotrophic Lateral Sclerosis
Cachexia, Xerostomia ORPHA:803
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Neoplasm of the thyroid gland, Weight loss, Renal... ORPHA:144
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Weight loss, Joint swelling ORPHA:85408
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Acrodermatitis Enteropathica
Weight loss, Failure to thrive ORPHA:37
Pemphigus Vulgaris
Weight loss ORPHA:704
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Spontaneous, recurrent... ORPHA:2072
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Nocardiosis
Pleural effusion, Abnormality of the adrenal glands, Weight loss, Thyroiditis, Pericarditis ORPHA:31204
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia ORPHA:3217
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... ORPHA:1359
Proteus Syndrome
Long penis, Thymus hyperplasia, Pulmonary embolism, Lymphedema, Neoplasm of the thymus, Splenomeg... ORPHA:744
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Weight loss, Failure to thrive ORPHA:2020
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland ORPHA:1969
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Cachexia, Ve... ORPHA:558
Vascular Ehlers-Danlos Syndrome
Transient ischemic attack, Cystocele, Hypokalemia, Bladder diverticulum, Hypertension, Telangiect... ORPHA:286
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Seckel Syndrome
Cachexia ORPHA:808
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Stickler Syndrome
Slender build, Cachexia, Arrhythmia ORPHA:828
Norrie Disease
Cachexia, Delayed puberty, Failure to thrive, Diabetes mellitus ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nr3c2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nr3c2.

No publications found that use IMPC mice or data for Nr3c2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nr3c2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nr3c2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nr3c2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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