Gene Summary

Name:
prolyl endopeptidase
Synonyms:
Pop,  prolyl oligopeptidase,  D10Wsu136e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating free fatty acids level Preptm1b(KOMP)Wtsi HET Early adult 3.65×10-05
preweaning lethality, complete penetrance Preptm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating potassium level Preptm1b(KOMP)Wtsi HET Early adult 2.65×10-05
embryonic lethality prior to tooth bud stage Preptm1b(KOMP)Wtsi HOM   E12.5 0.00
increased circulating sodium level Preptm1b(KOMP)Wtsi HET   Early adult 1.86×10-05
decreased thigmotaxis Preptm1b(KOMP)Wtsi HET Early adult 1.86×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Adult LacZ

LacZ Images Section

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Prep mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Irritability OMIM:304800
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre... OMIM:300539
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Central Diabetes Insipidus
Hyponatremia, Depression, Polydipsia, Anorexia ORPHA:178029
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Increased ... ORPHA:890
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Overgrowth, Enlarge... OMIM:618272
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... OMIM:614480
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:177735
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism OMIM:264350
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive, Acute hepatic failure OMIM:620151
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Agitation, Irritability, Hyperactivity, Impulsivity OMIM:620423
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... ORPHA:100024
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Depression ORPHA:163921
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Micropenis, Decreased serum leptin OMIM:614962
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:619868
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Splenomegaly,... OMIM:612526
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal d... OMIM:615993
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Syndromic X-Linked Intellectual Disability 7
Micropenis, Obesity, Hypoplasia of penis ORPHA:85274
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... ORPHA:171876
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Nephronophthisis 15
Obesity, Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Depression ORPHA:83601
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Hypoplasia of penis ORPHA:3055
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Splenomegaly... OMIM:618963
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Failure to thrive, Ele... OMIM:276700
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia ORPHA:1930
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Leukopenia, Splenomeg... OMIM:617303
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis ORPHA:449285
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polydipsia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Episodic hemolytic anemia, Membranoproli... ORPHA:251004
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Omphalocele, Pancreatic fibrosis, Hepatomegaly, Enlarged ... OMIM:200995
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity OMIM:617885
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly, Intermittent jaundice OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph... ORPHA:79128
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elbow flexion contracture, Elevated circ... OMIM:608836
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Abnormality of the kidney OMIM:615982
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Overgrowth, Multiple lipomas, Lipoatrophy, E... ORPHA:276280
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Irritab... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Renal dysplasia OMIM:615985
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Bardet-Biedl Syndrome 19
Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Anorexia ORPHA:361
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... OMIM:613812
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Reduced circulating cortisol-binding globulin ... OMIM:611489
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Infant Botulism
Hyponatremia, Dysphagia, Anorexia ORPHA:178478
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Familial Hyperaldosteronism Type I
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia OMIM:608688
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Inguinal hernia, Enlarged kidney, Cystic... OMIM:608022
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Bardet-Biedl Syndrome 21
Horseshoe kidney, Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Congenital hepatic fibrosis, Displacement of the urethral meatus, H... ORPHA:2377
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Decreased circulating cortisol level, Anorexia, Hyperk... ORPHA:95409
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Liddle Syndrome
Hypokalemia ORPHA:526
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia OMIM:619381
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Anemia, Omphalocele, Increased body mass index OMIM:614450
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Hartsfield Syndrome
Hypernatremia OMIM:615465
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia ORPHA:90790
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Hernia, Lipodystrophy, Micropenis, Lymphadenopathy, Abnorm... ORPHA:168569
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Whipple Disease
Hyponatremia, Depression, Polydipsia, Anorexia ORPHA:3452
Blue Diaper Syndrome
Increased body weight, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration,... ORPHA:94086
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu... OMIM:616026
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Weig... ORPHA:449395
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level ORPHA:90791
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Penile freckling, Large for gestational age, Splenomegaly, Overgrowth, Hepa... OMIM:605309
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Anorexia, Hypercalcemia ORPHA:199299
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Alg8-Cdg
Hyponatremia ORPHA:79325
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph... OMIM:194080
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia ORPHA:97362
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Viscero... ORPHA:116
East Syndrome
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... ORPHA:199343
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia,... ORPHA:89938
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Decreased circula... ORPHA:231580
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Legionnaires Disease
Hyponatremia, Anorexia ORPHA:549
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Biemond Syndrome Type 2
Obesity, Hypospadias ORPHA:141333
Apparent Mineralocorticoid Excess
Hypokalemia, Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin l... ORPHA:320
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, P... ORPHA:263455
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Polydipsia ORPHA:95513
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Familial Hyperaldosteronism Type Iii
Hypokalemia, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Mirage Syndrome
Hyponatremia, Hyperkalemia OMIM:617053
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large... ORPHA:552
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... ORPHA:90038
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Failure to thrive, Stage 5 chronic kidne... ORPHA:79259
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Decreased circulating cortisol level, Anorexia, Hyperk... ORPHA:85138
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glyc... ORPHA:505248
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... ORPHA:30391
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Large for gestational age, Transient neutropenia, Ing... ORPHA:500095
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... ORPHA:231632
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Anorexia OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Acute Intermittent Porphyria
Hyponatremia, Depression, Restlessness, Pseudobulbar paralysis ORPHA:79276
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Umbilical hernia, Splenic cyst, Inguinal hernia, Enlarged kidney OMIM:618188
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Irritability, Hypokalemia, Elevated ser... ORPHA:1501
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis... ORPHA:79240
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Umbilical hernia, Inguinal hernia, Splenomegaly, Cardiomegaly, Hepatomegaly, M... OMIM:252500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Umbilical hernia, Large... OMIM:614520
Rabin-Pappas Syndrome
Hyponatremia OMIM:620155
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias OMIM:194072
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Hydronephrosis, Abdominal mass, Cystic renal dysplasia OMIM:615989
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ... ORPHA:261222
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Failure to thrive, Polysplenia, Horseshoe kidney, Abdominal situs inversus, Bilia... OMIM:306955
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Ethylene Glycol Poisoning
Addictive alcohol use, Euphoria, Hyperkalemia, Hypocalcemia ORPHA:31826
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level ORPHA:95613
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Hyperlipidemia, Emotional lability, Hyponatremia... ORPHA:293987
Insulin-Resistance Syndrome Type B
Nephritis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fastin... ORPHA:2298
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... ORPHA:79328
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Anorexia OMIM:175500
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso... ORPHA:231625
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Shigellosis
Hyponatremia, Abnormal blood ion concentration, Anorexia ORPHA:810
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:168558
Leprechaunism
Nephrocalcinosis, Long penis, Failure to thrive, Reduced subcutaneous adipose tissue, Decreased b... ORPHA:508
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:289548
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Cystinosis
Hypokalemia, Polydipsia, Hypophosphatemia, Motor stereotypy ORPHA:213
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Japanese Encephalitis
Hyponatremia, Anorexia ORPHA:79139
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:293978
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention def... ORPHA:534
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... OMIM:219800
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ... OMIM:612780
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:91355
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Increased urinary cortisol level, Abdominal obesity OMIM:615954
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus ORPHA:79085
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Hyperaldosteronism ORPHA:369929
Familial Dysautonomia
Hyponatremia ORPHA:1764
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis, Horseshoe kidney OMIM:300860
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Enlarged kidney, Aplasia ... OMIM:608978
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Ch├ędiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:167
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Birth length greater than 97th percentile, Larg... ORPHA:314588
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Helix Syndrome
Hypokalemia, Hypermagnesemia, Polydipsia OMIM:617671
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Smith-Magenis Syndrome
Increased body weight, Abnormal renal morphology, Abnormality of the urinary system OMIM:182290
Mercury Poisoning
Hypokalemia, Anorexia ORPHA:330021
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Hepatic steatosis, Nephrolithiasis, Incr... ORPHA:189427
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Dysbetalipoproteinemia
Obesity, Hepatic steatosis, Renal steatosis, Hepatomegaly, Acute pancreatitis ORPHA:412
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Obesity, Truncal obesit... OMIM:615873
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus ORPHA:435651
Ogden Syndrome
Polycythemia, Umbilical hernia, Inguinal hernia, Microvesicular hepatic steatosis, Cardiomegaly, ... OMIM:300855
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Umbilical hernia, Birth length greater than 97th percen... OMIM:312870
Perlman Syndrome
Visceromegaly, Renal hamartoma, Nephroblastomatosis, Nephrogenic rest, Ascites, Large for gestati... OMIM:267000
Holoprosencephaly
Hyponatremia ORPHA:2162
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Agitation ORPHA:340
Proteus Syndrome
Long penis, Thymus hyperplasia, Abnormal dental enamel morphology, Neoplasm of the thymus, Spleno... ORPHA:744
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Cardiac-Urogenital Syndrome
Accessory spleen, Congenital diaphragmatic hernia, Hepatopulmonary fusion, Penoscrotal hypospadia... OMIM:618280
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity OMIM:609734
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Microangiopathic he... ORPHA:244242
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... OMIM:619991
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus ORPHA:435660
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Abnormality of the kidney, Prolonged neonatal ja... OMIM:117550
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Thauvin-Robinet-Faivre Syndrome
Tall stature, Large for gestational age, Bifid ureter, Transient neutropenia, Inguinal hernia, Ne... OMIM:617107
Gitelman Syndrome
Polydipsia, Hypomagnesemia, Hypokalemia, Salt craving, Increased circulating renin level OMIM:263800
Narcolepsy 7
Obesity OMIM:614250
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Polydipsia ORPHA:411629
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Retinitis Pigmentosa 74
Abnormal renal morphology, Obesity OMIM:616562
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... OMIM:201750
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation