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 thigmotaxis Preptm1b(KOMP)Wtsi HET Early adult 1.38×10-05
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
increased circulating potassium level Preptm1b(KOMP)Wtsi HET Early adult 2.65×10-05
decreased circulating free fatty acids level Preptm1b(KOMP)Wtsi HET Early adult 4.05×10-05
preweaning lethality, complete penetrance Preptm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

Eye Morphology

Images Slit Lamp

1 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
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren... OMIM:610600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Irritability, Hypernatremia OMIM:125800
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Irritability, Hypernatremia OMIM:304800
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:615947
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... ORPHA:556037
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Bardet-Biedl Syndrome 11
Obesity, Abnormality of the kidney OMIM:615988
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Elevated hepatic transaminase, Renal insufficiency, Increased body weight,... ORPHA:890
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Central Diabetes Insipidus
Anxiety, Hyponatremia, Depression ORPHA:178029
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... ORPHA:556030
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenomegaly,... OMIM:608971
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:177735
Bardet-Biedl Syndrome 12
Obesity, Abnormality of the kidney OMIM:615989
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Galactosemia Iii
Hepatomegaly, Failure to thrive, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Aminoaciduria, Jaundice ORPHA:79238
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Micropenis, Decreased serum leptin OMIM:614962
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Posttransplant Acute Limbic Encephalitis
Anxiety, Hyponatremia, Depression ORPHA:163921
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Macrosomia Adiposa Congenita
Obesity, Large for gestational age OMIM:248100
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Hyponatremia, Apathy, Anxiety, Increased erythrocyte prot... ORPHA:100924
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Childhood-onset truncal obesity ORPHA:71529
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Weight loss, Anemi... ORPHA:100024
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615993
Summitt Syndrome
Obesity OMIM:272350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Apathy, ... ORPHA:3008
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, 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
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anxiety, Hyponatremia, Depression ORPHA:83601
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:214700
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Ascites, Failure to thrive, Nephr... OMIM:276700
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level ORPHA:199296
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Sple... OMIM:612526
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Narcolepsy Type 1
Obesity ORPHA:2073
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Syndromic X-Linked Intellectual Disability 7
Obesity, Micropenis, Hypoplasia of penis ORPHA:85274
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Glucocortocoid-insensitive primary... ORPHA:171876
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Obesity, Splenomegaly OMIM:605309
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Lipo... OMIM:608600
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Hepatic cysts, Decreased glomerular filtration rate, Renal cyst, Pyelonephritis... ORPHA:730
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Bardet-Biedl Syndrome 5
Obesity, Micropenis OMIM:615983
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abdominal obesity OMIM:615980
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, C... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Hepatic fail... OMIM:613812
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Hypoplasia of penis ORPHA:3055
Nephronophthisis 15
Obesity, Nephronophthisis, Hepatic failure OMIM:614845
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity ORPHA:71526
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting OMIM:618314
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Bardet-Biedl Syndrome 19
Obesity, Renal insufficiency OMIM:615996
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Lipid accumulation in ... OMIM:608836
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Abnormal dental enamel morphology, Membranoprol... ORPHA:251004
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Omphalocele, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis... OMIM:200995
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Hemihyperplasia-Multiple Lipomatosis Syndrome
Overgrowth, Multiple lipomas, Abnormality of the lymphatic system, Lipoatrophy, Nephroblastoma, E... ORPHA:276280
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age, Visceromegaly OMIM:601165
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Failure to thrive, W... ORPHA:79128
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic ... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, In... OMIM:235555
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Bardet-Biedl Syndrome 4
Obesity, Renal cyst, Abnormality of the kidney OMIM:615982
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai... OMIM:214950
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level OMIM:300200
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Cholera
Hyponatremia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Trisomy 5P
Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Hartsfield Syndrome
Hypernatremia OMIM:615465
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Panniculitis, Generalized lipodystrophy, Splenomegaly, Flexion con... OMIM:619183
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Splenomegaly, Cirrhosis, H... OMIM:607765
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Scarring alopecia of scalp, Splenomegaly, Choles... ORPHA:59303
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Omphalocele, Hepatomegaly, Overgrowth, Nephrocalcinosis, Cardiomegaly, Hepa... OMIM:130650
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Bardet-Biedl Syndrome 8
Hypospadias, Obesity, Renal dysplasia OMIM:615985
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Inguina... OMIM:608022
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Obesity, Horseshoe kidney, Overweight OMIM:617406
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Liddle Syndrome
Hypokalemia ORPHA:526
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Displacement of the urethral meatus, Obesity, Hypoplasia of penis, R... ORPHA:2377
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Snakebite Envenomation
Hyponatremia ORPHA:449285
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Abcd Syndrome
Large for gestational age OMIM:600501
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Failure to thrive, Bo... OMIM:278000
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Anemia, Increased body weight OMIM:614450
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Wolman Disease
Hepatomegaly, Cachexia, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepatic failure ORPHA:75233
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:90790
H Syndrome
Lymphadenopathy, Lipodystrophy, Hernia, Hepatosplenomegaly, Micropenis, Microcytic anemia, Campto... ORPHA:168569
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... ORPHA:449395
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasi... OMIM:211600
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine ... OMIM:612714
Adrenocortical Carcinoma
Hypokalemia, Elevated serum 11-deoxycortisol, Increased circulating cortisol level, Paradoxical i... ORPHA:1501
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:361
Blue Diaper Syndrome
Elevated hepatic transaminase, Blue urine, Increased body weight, Nephrocalcinosis ORPHA:94086
Porphyria Variegata
Anxiety, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Decreased circulating cortisol level ORPHA:90791
Beckwith-Wiedemann Syndrome
Omphalocele, Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblastoma, Um... ORPHA:116
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Hypoplasia of the thymus, An... OMIM:603554
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Panniculitis, Splenomegaly ORPHA:33577
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormality of body weight, Type II diabetes mellitus, Abnorm... ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Alg8-Cdg
Hyponatremia ORPHA:79325
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Whipple Disease
Hyponatremia, Depression ORPHA:3452
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Increased hepatic glycogen content, Large for gestational a... ORPHA:263455
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight lo... ORPHA:53035
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:95409
Biemond Syndrome Type 2
Hypospadias, Obesity ORPHA:141333
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Emotional lability, Hyperaldosteronism,... ORPHA:89938
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia OMIM:600151
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Abnormal erythrocyte enzyme level, Portal fibrosis, Hepatic fibrosis... ORPHA:264580
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, ... ORPHA:79259
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Lymphadenopathy, Lipodystrophy, Panniculitis, Anemia, Splenomega... OMIM:617591
Infant Botulism
Hyponatremia ORPHA:178478
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Bone marrow hypocellularity, Hernia, Anemia, H... ORPHA:505248
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Decreased circulating cortisol level ORPHA:199299
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Large for gestational age ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Focal pancreatic islet hyperplasia, Large for... ORPHA:276575
Acute Intermittent Porphyria
Anxiety, Hyponatremia, Depression ORPHA:79276
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Decreased serum leptin, Decreased adiponectin level ORPHA:79085
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Large for gestational age, Bifid ureter, Multicystic kidn... ORPHA:500095
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Legionnaires Disease
Hyponatremia ORPHA:549
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Overgrowth, Lipoma, Splenomegaly OMIM:612918
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:293978
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... ORPHA:567983
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... ORPHA:79240
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Large for gestational age ORPHA:324575
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Pituitary Apoplexy
Hyponatremia, Increased circulating cortisol level ORPHA:95613
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95513
Mody
Pancreatic hypoplasia, Obesity, Hepatocellular adenoma, Renal cyst, Large for gestational age, Gl... ORPHA:552
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia ORPHA:275761
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypoalbuminemia ORPHA:88673
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level, Decr... ORPHA:85138
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Nephroblastoma, Nephropathy, Obesity, Renal insufficiency OMIM:194072
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Nephrocalcinosis OMIM:615633
Alg9-Cdg
Omphalocele, Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Hepatic cysts, Lipod... ORPHA:79328
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuria, Abnormality ... ORPHA:261222
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Leprechaunism
Hepatomegaly, Hypercalciuria, Long penis, Nephrocalcinosis, Failure to thrive, Enlarged ovaries, ... ORPHA:508
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Bone marrow hypocellularity, Anemia, Large for gestational age, T... OMIM:614520
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Decreased serum leptin, Decreased adiponectin level ORPHA:435651
Joubert Syndrome 37
Hydronephrosis, Hepatomegaly, Micropenis, Obesity OMIM:619185
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Increased circulating cortisol level, Hypokalemia, Glucocortoc... ORPHA:231625
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... OMIM:603903
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:199343
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Euphoria ORPHA:31826
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level ORPHA:320
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Self-injurious behavior, Aggressive behavior, Emotional lability, D... ORPHA:293987
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level ORPHA:91355
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Narcolepsy 7
Obesity OMIM:614250
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration OMIM:603233
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Micropenis OMIM:610628
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Self-injurious behavior, Hypophosphatemia, Hypercholest... ORPHA:534
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Abdominal obesity, Increased body weight OMIM:615954
Chédiak-Higashi Syndrome
Hypoproteinemia, Increased circulating ferritin concentration, Hyponatremia, Hypertriglyceridemia ORPHA:167
Bardet-Biedl Syndrome
Hepatic fibrosis, Nephrotic syndrome, Multicystic kidney dysplasia, Obesity, Hypoplasia of penis ORPHA:110
Shigellosis
Hyponatremia, Abnormal blood ion concentration ORPHA:810
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Tall stature, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutan... OMIM:608594
Lipe-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Decreased serum leptin, Decreased adiponectin level ORPHA:435660
Familial Dysautonomia
Hyponatremia ORPHA:1764
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Japanese Encephalitis
Hyponatremia ORPHA:79139
Perlman Syndrome
Ascites, Congenital diaphragmatic hernia, Nephrogenic rest, Nephroblastomatosis, Large for gestat... OMIM:267000
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Truncal obesity OMIM:615986
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Horseshoe kidney, Micropenis, Increased body weight OMIM:300860
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Meacham Syndrome
Horseshoe kidney, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Accessor... OMIM:608978
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased urinary cortisol level, Renal cell carcinoma, Dorsocervical fat pad, Nephrolithiasis, H... ORPHA:189427
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Obesity, Achilles tendon contracture OMIM:615418
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Smith-Magenis Syndrome
Abnormality of the urinary system, Abnormal renal morphology, Increased body weight OMIM:182290
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear/anxiety-related behavior, Emotional lability, Hypokalemia OMIM:219090
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Primary Pigmented Nodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distrib... ORPHA:189439
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Birth length greater than 97th percentile, Hernia, Large for ge... ORPHA:314588
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Overgrowth, Birth length greater than 97th percentile,... OMIM:312870
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hyperaldosteronism OMIM:607364
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Stomatocytosis, Acanthocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Holoprosencephaly
Hyponatremia ORPHA:2162
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Dysbetalipoproteinemia
Hepatomegaly, Hepatic steatosis, Renal steatosis, Acute pancreatitis, Obesity ORPHA:412
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:612780
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Hyperaldosteronism ORPHA:369929
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Diffuse pancreatic islet hyperplasia, Focal pancreatic is... ORPHA:79644
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia, Decreased circulating cortisol level ORPHA:90794
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Cystinosis, Nephropathic
Hyponatremia, Decreased plasma carnitine, Hypophosphatemic rickets OMIM:219800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Andersen Cardiodysrhythmic Periodic Paralysis