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
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
decreased circulating free fatty acids level Preptm1b(KOMP)Wtsi HET Early adult 3.65×10-05
embryonic lethality prior to tooth bud stage Preptm1b(KOMP)Wtsi HOM   E12.5 0.00
increased circulating potassium level Preptm1b(KOMP)Wtsi HET Early adult 2.65×10-05
preweaning lethality, complete penetrance Preptm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
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)
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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Adult LacZ

LacZ Images Section

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Combined SHIRPA and Dysmorphology

Images

1 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
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Elevated hepati... OMIM:619902
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... 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, Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity OMIM:615988
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilica... OMIM:618272
Hepatic Veno-Occlusive Disease
Renal insufficiency, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased bo... ORPHA:890
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556037
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... OMIM:614480
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Central Diabetes Insipidus
Anxiety, Depression, Hyponatremia ORPHA:178029
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Obesity OMIM:615987
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Renal insufficiency, Obesity OMIM:615995
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Micropenis, Hypogonadism OMIM:614962
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... ORPHA:556030
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:199296
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... OMIM:615751
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601820
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Posttransplant Acute Limbic Encephalitis
Anxiety, Depression, Hyponatremia ORPHA:163921
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine kinase con... ORPHA:94093
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:203400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:230350
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia OMIM:614736
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jon... ORPHA:100024
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Summitt Syndrome
Obesity OMIM:272350
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Neonatal hyperbilirub... ORPHA:3008
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... ORPHA:100924
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Halothane Hepatitis
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity OMIM:234350
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Malformation of the hepatic ... OMIM:615415
Liddle Syndrome 3
Hypokalemia OMIM:618126
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency,... OMIM:615993
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Bardet-Biedl Syndrome 19
Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... OMIM:612526
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypoplasia of penis, Micropenis ORPHA:85274
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia OMIM:214700
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Nephronophthisis 15
Nephronophthisis, Obesity, Elevated hepatic transaminase OMIM:614845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Increased LDL ... OMIM:267700
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... OMIM:269600
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Hypoplasia of penis, Hernia of the abdominal wall ORPHA:3055
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Tyrosinemia, Type I
Cirrhosis, Hepatic failure, Renal insufficiency, Renal Fanconi syndrome, Anemia, Enlarged kidney,... OMIM:276700
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Failure to thrive, Cholestasis, Obesity ORPHA:71526
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Depression, Hyponatremia ORPHA:83601
Wilson Disease
Cirrhosis, Anemia, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steat... ORPHA:905
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of ... ORPHA:1414
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Splenomegaly, Flexion contracture, Anemia, Neutropenia, Nephro... OMIM:617303
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:613090
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pancreatic fibrosis, Hepa... OMIM:200995
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Macroscopic... ORPHA:251004
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Glycogen Storage Disease Ib
Neutropenia, Enlarged kidney, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcino... OMIM:232220
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Hydronephrosis, Elevated circulating alanine aminotransferase concentra... OMIM:608836
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Multiple lipomas, Enlarged kidney, Overgrowth, Lipoatrophy, Abnormality of the ly... ORPHA:276280
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ... OMIM:601847
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Obesity OMIM:615982
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Failure to th... OMIM:235555
Central Precocious Puberty
Overgrowth, Obesity, Increased body weight ORPHA:759
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Irritability, Hypoproteinemia, Increased circulating ferritin concentr... OMIM:603553
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Lymphoid Interstitial Pneumonia
Abnormality of connective tissue, Weight loss, Enlarged kidney, Failure to thrive, Hepatomegaly, ... ORPHA:79128
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age, Truncal obesity ORPHA:293964
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic kidney disease, Cholestasis, Neph... OMIM:616629
Trisomy 5P
Renal hypoplasia/aplasia, Obesity, Hypoplasia of penis ORPHA:1742
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hyponatremia OMIM:300200
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Irritability ORPHA:173
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... ORPHA:31824
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticomedullary differenti... ORPHA:731
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Renal dysplasia OMIM:615985
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... ORPHA:464329
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:427
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Nephronophthisis, Obesity, Splenome... OMIM:615630
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c... ORPHA:69663
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Hyponatremia ORPHA:79273
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Glycogen Storage Disease Ia
Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Decreased glomerular fi... OMIM:232200
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Autoimmune hemolytic anemia, Lymphadenopathy, Generalized lipodystrophy, Pan... OMIM:619183
Diaphanospondylodysostosis
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Inguinal hernia, Nephrogenic ... OMIM:608022
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral meatus, Congenita... ORPHA:2377
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... OMIM:130650
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Snakebite Envenomation
Hyponatremia ORPHA:449285
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Liddle Syndrome
Hypokalemia ORPHA:526
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Anemia, Increased body weight OMIM:614450
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia OMIM:608688
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90790
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... ORPHA:131
Bardet-Biedl Syndrome 21
Horseshoe kidney, Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hartsfield Syndrome
Hypernatremia OMIM:615465
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level OMIM:611489
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi... OMIM:211600
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
H Syndrome
Hernia, Enlarged kidney, Abnormality of the kidney, Camptodactyly, Hepatosplenomegaly, Lipodystro... ORPHA:168569
Adrenocortical Carcinoma
Hyperaldosteronism, Increased circulating cortisol level, Hypokalemia, Panic attack, Paradoxical ... ORPHA:1501
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia ORPHA:199299
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Elevated hepatic transaminase, Increased body weight ORPHA:94086
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:361
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anxiety, Hyponatremia ORPHA:79473
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Glycosuria, Hyperphosphaturia, Elevated hepatic transaminase, Large for gestationa... OMIM:616026
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Congenital d... OMIM:194080
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Nephrolithiasis, Splenomegaly, Nephroblastoma, Vesicoureteral reflu... ORPHA:116
Alg8-Cdg
Hyponatremia ORPHA:79325
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia ORPHA:97362
Bartter Syndrome Type 4
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Emotional lability, Hypochlor... ORPHA:89938
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Glycosu... ORPHA:2298
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:613677
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible pr... ORPHA:404
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Macrocephaly/Autism Syndrome
Large for gestational age, Lymphopenia, Penile freckling, Overgrowth, Hepatomegaly, Obesity, Sple... OMIM:605309
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Whipple Disease
Depression, Hyponatremia ORPHA:3452
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Biemond Syndrome Type 2
Hypospadias, Obesity ORPHA:141333
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Increased hepatic glycogen ... ORPHA:263455
Acute Adrenal Insufficiency
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ... ORPHA:449395
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular carc... ORPHA:79259
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Caroli Disease
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Infant Botulism
Hyponatremia ORPHA:178478
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Elevated hepatic transaminase, Abnor... ORPHA:264580
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus ORPHA:79085
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia OMIM:602522
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Urethral atresia, Hydronephrosis OMIM:314390
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Birk-Landau-Perez Syndrome
Increased circulating creatine kinase MB isoform, Hyperkalemia OMIM:617595
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Flexion contracture, Hernia, Nephrotic syndrome, Enlarged kidney, Hepatosplen... ORPHA:505248
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Small for gestational age... ORPHA:30391
Adenohypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95512
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Renal malrotatio... ORPHA:500095
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Erythroid hyperplasia, Reticulocytosis, Macrocytic d... OMIM:224120
Acute Intermittent Porphyria
Anxiety, Depression, Hyponatremia ORPHA:79276
Legionnaires Disease
Hyponatremia ORPHA:549
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia OMIM:617913
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperkalemia, Emotional lability, Depressi... ORPHA:293987
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Inguinal hernia, Umbilical hernia OMIM:618188
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:293978
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Panhypophysitis
Decreased circulating cortisol level, Hyponatremia ORPHA:95513
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Elevated hepatic transaminase, Hepat... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Apathy, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia ORPHA:254534
Pituitary Apoplexy
Increased circulating cortisol level, Hyponatremia ORPHA:95613
Mody
Pancreatic hypoplasia, Glycosuria, Abnormality of the kidney, Large for gestational age, Renal cy... ORPHA:552
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Enlarged kidney, Camptodactyly, Inguinal hernia, Failure to thrive, Mucopolysacchar... OMIM:252500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity OMIM:194072
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Anemia, Ketonuria, Large for gestational age, Failure to thrive, Bone marrow hypoc... OMIM:614520
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Obesity OMIM:605231
Sickle Cell Disease
Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increased red cell sickl... OMIM:603903
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Obesity, Abdominal mass, Hydronephrosis OMIM:615989
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible pr... ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Alg9-Cdg
Hypoplasia of the bladder, Periportal fibrosis, Enlarged kidney, Ureteral hypoplasia, Lipodystrop... ORPHA:79328
Addison Disease
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal agenesis, Failure to thrive, Horse... OMIM:306955
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise ORPHA:423
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus ORPHA:435651
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231625
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... ORPHA:209902
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:168558
Leprechaunism
Decreased body weight, Reduced subcutaneous adipose tissue, Enlarged kidney, Long penis, Failure ... ORPHA:508
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... ORPHA:289548
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Distal 16P11.2 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Obesity, Chronic k... ORPHA:261222
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Euphoria ORPHA:31826
East Syndrome
Hypokalemia, Hyperaldosteronism, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Bardet-Biedl Syndrome
Hepatic fibrosis, Multicystic kidney dysplasia, Nephrotic syndrome, Hypoplasia of penis, Obesity ORPHA:110
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Sheehan Syndrome
Decreased circulating cortisol level, Hyponatremia ORPHA:91355
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased urinary cortisol level, Increased body weight OMIM:615954
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Abnormality of circulating cortisol level ORPHA:320
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, Self-injurious behavior, Anxiety, Hypophosphatemia, Hyp... ORPHA:534
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus ORPHA:435660
Meacham Syndrome
Enlarged kidney, Aplasia of the right hemidiaphragm, Horseshoe kidney, Accessory spleen, Aplasia ... OMIM:608978
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia OMIM:613091
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Chédiak-Higashi Syndrome
Hypoproteinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hyponatremia ORPHA:167
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Shigellosis
Abnormal blood ion concentration, Hyponatremia ORPHA:810
Elliptocytosis 1
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly OMIM:611804
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Familial Dysautonomia
Hyponatremia ORPHA:1764
Japanese Encephalitis
Hyponatremia ORPHA:79139
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus OMIM:612651
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... OMIM:219800
Distal Tetrasomy 15Q
Birth length greater than 97th percentile, Nephroblastoma, Flexion contracture, Hernia, Abnormali... ORPHA:314588
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Horseshoe kidney, Increased body weight OMIM:300860
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Renal cell carcinoma, Dorsocervical fat pad, Hepatic steatosis, Nephrolithiasis, Abdominal obesit... ORPHA:189427
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Ketonuria, Large for gestational age, Diffuse pancreatic ... ORPHA:79644
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Hypokalemia, Emotional lability OMIM:219090
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:369929
Primary Pigmented Nodular Adrenocortical Disease
Abnormal subcutaneous fat tissue distribution, Elevated hepatic transaminase, Dorsocervical fat p... ORPHA:189439
Smith-Magenis Syndrome
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight OMIM:182290
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Primary hyperaldosteronism OMIM:615474
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Simpson-Golabi-Behmel Syndrome, Type 1
Birth length greater than 97th percentile, Nephroblastoma, Enlarged kidney, Polysplenia, Pancreat... OMIM:312870
Dysbetalipoproteinemia
Renal steatosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Obesity ORPHA:412
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Failure to thrive, Trunca... OMIM:615873
Ogden Syndrome
Microvesicular hepatic steatosis, Minimal subcutaneous fat, Enlarged kidney, Jaundice, Polycystic... OMIM:300855
Holoprosencephaly
Hyponatremia ORPHA:2162
Perlman Syndrome
Nephroblastoma, Renal hamartoma, Large for gestational age, Congenital diaphragmatic hernia, Neph... OMIM:267000
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Elevated hepatic transaminase, Hepatic steatosis, Micronodular c... ORPHA:98907
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Ascites, Cardiomegaly OMIM:261740
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Liver Disease, Severe Congenital
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Inappropriate crying, E... OMIM:619991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia ORPHA:90794
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Hypomagnesemia, Increased circulating renin level OMIM:612780
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Narcolepsy 7
Obesity OMIM:614250
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
Insulinoma
Abnormality of the pancreatic islet cells, Increased body weight ORPHA:97279
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Joubert Syndrome 39
Polycystic kidney dysplasia, Overweight, Joint contracture of the 5th finger OMIM:619562
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Fai... ORPHA:79474
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Cardiac-Urogenital Syndrome
Enlarged kidney, Patent urachus, Hepatopulmonary fusion, Congenital diaphragmatic hernia, Penoscr... OMIM:618280
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Hellp Syndrome
Hemolytic anemia, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Elevate... ORPHA:244242
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Sotos Syndrome
Abnormality of the kidney, Overgrowth, Tall stature, Prolonged neonatal jaundice, Increased body ... OMIM:117550
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Large for gestational age, Rena... OMIM:617107
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Decreased adiponectin level, Diabetes mellitus ORPHA:280365
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Retinitis Pigmentosa 74
Obesity, Abnormal renal morphology OMIM:616562
Mercury Poisoning
Hypokalemia ORPHA:330021
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin OMIM:614008
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... OMIM:201750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Elevated serum 11-deoxycortisol OMIM:202010
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Bartter Syndrome, Type 1, Antenatal