Gene Summary

Name:
cytochrome P450, family 2, subfamily c, polypeptide 23
Synonyms:
Cyp2c44

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 mean corpuscular hemoglobin Cyp2c23tm1b(EUCOMM)Hmgu HOM Early adult 9.65×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 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 Not available
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)
Striatum 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 Not available
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 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 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)
dorsal root ganglion 1.67% (1 of 60)
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)
fronto-nasal process 1.64% (1 of 61)
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)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
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 Forepaw

10 Images

Adult LacZ

LacZ Images Section

4 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Cyp2c23 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 Cyp2c23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Orthostat... OMIM:610600
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bladder, Nephr... ORPHA:223
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556037
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:264350
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556030
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive, Megacystis, Nephrogenic diabetes insipidus, Polyuria OMIM:125800
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Hyponatremia, Respiratory insufficiency, Failure to thrive, Chronic kidney di... OMIM:613845
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Failure to thrive, Renal sal... OMIM:203400
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypertension, Myoglobinuria, Hypernatremia, Elevated circulating crea... ORPHA:94093
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:177735
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Hereditary Coproporphyria
Hyponatremia, Respiratory insufficiency, Hepatocellular carcinoma, Porphyrinuria, Tachycardia, Da... ORPHA:79273
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Elevated circulating ... ORPHA:275555
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Webb-Dattani Syndrome
Hydronephrosis, Diabetes insipidus, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflu... OMIM:615926
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Respiratory insufficiency ORPHA:3188
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Renal salt wasting, Pre... OMIM:614736
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... OMIM:610947
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Hyponatremia, Hyperkalemia, Failure to thrive in infancy, Hypovolemic shock, Weight los... ORPHA:171876
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... ORPHA:567544
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Liddle Syndrome
Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia ORPHA:526
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failu... ORPHA:427
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic... OMIM:618913
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:615703
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Trimethylaminuria
Trimethylaminuria, Hypertension, Recurrent pneumonia, Tachycardia OMIM:602079
Rhabdoid Tumor
Hypercalcemia, Hypertension, Neoplasm of the central nervous system, Respiratory insufficiency, H... ORPHA:69077
Snakebite Envenomation
Hyponatremia, Intracranial hemorrhage, Epistaxis, Respiratory paralysis, Tachycardia, Cerebral is... ORPHA:449285
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertriglyceridemia, O... ORPHA:71529
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Conge... ORPHA:361
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... ORPHA:225
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypomagnesemia, Resp... ORPHA:31824
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus, Failure to thrive, Weight loss, Nocturia ORPHA:178029
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... ORPHA:411634
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Central apnea, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Central apnea, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Small for gestational ag... ORPHA:93101
Nephronophthisis 2
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Respir... OMIM:602088
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... ORPHA:90791
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Adrenal Hypoplasia, Congenital
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Failure to thrive, ... OMIM:300200
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pattern of respiration, Tachypnea, Lacticaciduria, Neonatal hyperbilirubi... ORPHA:3008
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... ORPHA:329918
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... OMIM:103900
Amyloidosis, Familial Visceral
Hypertension, Nephrotic syndrome, Hematuria, Nephropathy, Proteinuria OMIM:105200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Respiratory distress, Hyponatremia OMIM:618426
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia OMIM:616949
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension, Respiratory insufficiency ORPHA:2111
Congenital Isolated Acth Deficiency
Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Hypotensio... ORPHA:199296
Arterial Calcification, Generalized, Of Infancy, 2
Hypertension, Nephrocalcinosis, Myocardial infarction, Congestive heart failure, Hypophosphatemic... OMIM:614473
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Gonadoblastom... ORPHA:347
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Neoplasm of the adrenal gland, Intracranial hemorrhage, Abnormal T-wave, Decreased ... ORPHA:231625
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Chronic pulmona... ORPHA:439232
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:404
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... OMIM:215600
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Renal salt wasting, Increased circulating renin level... ORPHA:95409
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Recurrent pneumonia, Aminoaciduria, Atelectasis OMIM:268500
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... ORPHA:89938
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Hyperaldostero... OMIM:613677
Porphyria Variegata
Hyponatremia, Hypertension, Inappropriate antidiuretic hormone secretion, Hepatocellular carcinom... ORPHA:79473
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cholera
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Hypokale... ORPHA:173
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:403
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Respiratory insufficiency, Purple urine, Increased urinary porphobilinogen, Myelopr... ORPHA:100924
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Nephroblastoma
Hypertension, Neoplasm of the lung, Weight loss, Hematuria, Neoplasm, Neoplasm of the liver, Neph... ORPHA:654
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... OMIM:214700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis OMIM:615508
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Acute Intermittent Porphyria
Hyponatremia, Hypertension, Respiratory insufficiency, Urinary retention, Hepatocellular carcinom... ORPHA:79276
Ectopic Aldosterone-Producing Tumor
Hypertension, Ovarian neoplasm, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal ... ORPHA:231632
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Failure to thrive, Pulmonary arterial hypertension, Resp... OMIM:605711
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... OMIM:123550
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Respiratory insufficiency, Hematuria, Cough, Arrhythmia,... ORPHA:549
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Hypokal... ORPHA:320
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... ORPHA:251274
Coproporphyria, Hereditary
Hypertension, Respiratory paralysis, Tachycardia, Increased urinary porphobilinogen, Elevated uri... OMIM:121300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... OMIM:618183
Non-Functioning Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Elevated urinary epinephrine,... ORPHA:94080
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo... OMIM:104200
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... OMIM:607364
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... OMIM:171420
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic a... OMIM:171400
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Adrenal hyperplasia, Hyperactive renin-angiotensin system, Pneumonia,... ORPHA:90790
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612926
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Respiratory insufficiency, Hypokalemia, Elevated circulating creatine... ORPHA:682
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Bro... ORPHA:293978
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... OMIM:616733
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Infant Botulism
Hyponatremia, Hypertension, Respiratory insufficiency due to muscle weakness, Cardiac arrest, Dys... ORPHA:178478
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Increased urin... ORPHA:231580
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Adenohypophysitis
Hyponatremia, Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased... ORPHA:95512
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Hypokal... OMIM:177200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wasting, Increas... ORPHA:85138
Glutaric Aciduria Iii
Hypertension, Goiter, Failure to thrive, Glutaric aciduria, Hyperthyroidism OMIM:231690
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease ORPHA:3156
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level, Small f... OMIM:218030
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Panhypophysitis
Hyponatremia, Increased circulating prolactin concentration, Hashimoto thyroiditis, Abnormal size... ORPHA:95513
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arrhythmia ORPHA:3222
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Failure to thrive, Orthostatic hypotension, Weig... ORPHA:199299
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... ORPHA:168558
Alport Syndrome
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... ORPHA:63
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematu... ORPHA:730
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Potocki-Shaffer Syndrome
Hypertension, Exostoses, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Proteinuria ORPHA:1192
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Ganglioneuroma
Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Abnormality of the adrenal gla... ORPHA:251992
Pheochromocytoma
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Hemangioma, Tachycardia, Neoplasm, Ele... OMIM:171300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis ORPHA:83601
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... OMIM:618061
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal circ... ORPHA:280356
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Apnea, Bradycardia, Hypotension ORPHA:391673
Mirage Syndrome
Hypospadias, Hyponatremia, Hyperkalemia, Adrenal insufficiency, Intracranial hemorrhage, Myelodys... OMIM:617053
Pituitary Apoplexy
Hyponatremia, Increased circulating prolactin concentration, Hypertension, Hypergonadotropic hypo... ORPHA:95613
Wolcott-Rallison Syndrome
Hyponatremia, Central hypothyroidism, Hyperbilirubinemia, Hyperammonemia, Hypothyroidism, Hypoalb... ORPHA:1667
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Whipple Disease
Myocarditis, Hyponatremia, Cachexia, Pericarditis, Respiratory insufficiency, Cough, Myocardial i... ORPHA:3452
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromoc... ORPHA:276621
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Nephrotic syndrome, N... OMIM:301050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu... OMIM:613095
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Hypernatremia, Gonadotropin deficiency, Micropenis OMIM:615465
Mercury Poisoning
Hypertension, Hypokalemia, Interstitial pneumonitis, Tachycardia, Respiratory distress, Acute kid... ORPHA:330021
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Sma... ORPHA:2260
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Arachnoid hemangiomatosis, Elevated ... ORPHA:29072
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism OMIM:619406
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:369929
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Pulmonary arterial hyperten... ORPHA:275761
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Hypertension, Recurrent pneumonia OMIM:616069
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Myocarditis, Decreased urine output, Hypertension, Pneumonia, Anuria,... ORPHA:544482
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... ORPHA:90795
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:618620
Neuroblastoma, Susceptibility To, 1
Hypertension, Neuroblastoma, Elevated urinary vanillylmandelic acid, Failure to thrive, Ganglione... OMIM:256700
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldos... OMIM:601678
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Polyarteritis Nodosa
Hypertension, Pericarditis, Weight loss, Cardiomyopathy, Raynaud phenomenon, Elevated circulating... ORPHA:767
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Familial Dysautonomia
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia, Glomerulopathy, Renal insuffici... ORPHA:1764
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Heme Oxygenase 1 Deficiency
Hypertension, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin concentration, Prot... OMIM:614034
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Xfe Progeroid Syndrome
Hypertension, Cachexia, Proteinuria, Renal insufficiency OMIM:610965
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Respiratory insufficiency, Apnea, Increased circulating ferrit... OMIM:618886
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... ORPHA:199343
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hyponatremia, Hypertension, Cholangiocarcinoma, Stage 5 chronic kidney disea... ORPHA:731
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... ORPHA:90793
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hyperlipidemia, Hepatocellul... OMIM:232240
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypertension, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria,... ORPHA:90038
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Coach Syndrome 2
Hyperechogenic kidneys, Apneic episodes in infancy, Elevated circulating creatinine concentration... OMIM:619111
Fabry Disease
Hypertension, Lipiduria, Urinary mulberry cells, Myocardial infarction, Arrhythmia, Transient isc... OMIM:301500
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Incr... ORPHA:1349
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial... OMIM:203800
Simple Cryoglobulinemia
Hypertension, Chronic lymphatic leukemia, Pericarditis, Multiple myeloma, Nephrotic syndrome, Mon... ORPHA:91139
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Respiratory failure requirin... ORPHA:1930
Cystinosis, Nephropathic
Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Ne... OMIM:219800
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Cardiac myxoma, Type II diab... ORPHA:189439
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Neoplasm, Che... OMIM:605373
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Shigellosis
Myocarditis, Hyponatremia, Failure to thrive in infancy, Hypovolemic shock, Pneumonia, Hemolytic-... ORPHA:810
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Truncal obesity, Hypercholesterolemia, Myocardial infarction, Abdominal obesity OMIM:615812
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypokalemia, Budd-Chiari syndrome, Weight... ORPHA:88673
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperpr... ORPHA:73224
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... ORPHA:1830
Paragangliomas 4
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... OMIM:115310
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Congestive heart failure, Diabetes mellitus, Wolff-Parkinson-White syndrome, Abnorm... OMIM:540000
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Pneumonia, Bronchiectasis, Cholesteatoma, Weight loss, Vasculitis in the skin, B-c... OMIM:619381
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... OMIM:612780
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral regurgitation OMIM:173900
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes ... ORPHA:77296
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Diabetes insipidus, Respiratory insufficiency, Hypogonadism, Sleep apnea ORPHA:97229
Tetanus
Hypertension, Elevated urinary epinephrine, Tachypnea, Elevated circulating creatine kinase conce... ORPHA:3299
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hypertension, Ne... OMIM:615474
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Diabetes mellitus ORPHA:79084
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure, Hypophosphatemic rickets OMIM:208000
Oculocerebrorenal Syndrome Of Lowe
Odontogenic neoplasm, Neoplasm of the skin, Hypophosphatemia, Proximal renal tubular acidosis, Ol... ORPHA:534
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia, Respiratory insufficiency OMIM:617021
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Ethylene Glycol Poisoning
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Episodic respiratory distress, Decr... ORPHA:31826
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal pattern of respiration, Weight loss, Pulmonar... ORPHA:3287
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Membranoprolif... ORPHA:251004
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria... OMIM:308940
Alg8-Cdg
Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus, Nephrolithiasis ORPHA:2833
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertension, Hypertriglyceridemia OMIM:608600
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, ... ORPHA:183
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Hypertension, Primary hypercortisolism, In... OMIM:219080
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... ORPHA:49041
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Denys-Drash Syndrome
Ovarian gonadoblastoma, Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Sta... OMIM:194080
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... OMIM:232200
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Pulmonary arterial hypertension, Small for gestational age OMIM:613355
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Obesity, Hyp... ORPHA:90041
Porphyria, Acute Intermittent
Hypertension, Urinary retention, Hepatocellular carcinoma, Dysuria, Respiratory paralysis, Tachyc... OMIM:176000
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabe... OMIM:604367
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... OMIM:241200
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia, Hypertension, Hypertriglyceridemia ORPHA:363400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Central hypothyroidism, Obstructive sleep apnea, Hyperlipidemia, Ganglioneuroblasto... ORPHA:293987
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Hepatocellular carcinoma, Decre... OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-ur... OMIM:235400
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Polycythemia Vera
Hypertension, Myelodysplasia, Respiratory insufficiency, Acute leukemia, Budd-Chiari syndrome, We... ORPHA:729
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatosis, Increased ci... ORPHA:652
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Crackles, Bronchiectasis, Tachypnea, Elevated circulating creatinine con... ORPHA:79126
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Hypokalemia, Nephrolithiasis, Pituitary adenoma, Abdominal obesity, Obesity, Increa... OMIM:219090
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Elevated urinary catecholamines, Primary hyperparathyroidism, Eleva... ORPHA:653
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hypertension, Pericarditis, Failure to thrive, Weight loss, Glomerular scler... OMIM:619487
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... ORPHA:199244
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Meningioma, Acral lentiginous melanoma, Slender build, Neopl... ORPHA:902
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... ORPHA:36382
Cocaine Intoxication
Wheezing, Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Hype... ORPHA:90068
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea, Episodic hypertension OMIM:619483
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... ORPHA:136
Bardet-Biedl Syndrome
Hypertension, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dyspl... ORPHA:110
Acquired Generalized Lipodystrophy
Hypertension, Astrocytoma, Abnormal circulating lipid concentration, Insulin-resistant diabetes m... ORPHA:79086
Fabry Disease
Hyperlipidemia, Transient ischemic attack, Nephropathy, Emphysema, Hypertrophic cardiomyopathy, H... ORPHA:324
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Paroxysmal Hemicrania
Rhinitis, Hypertension, Rhinorrhea, Diabetes mellitus ORPHA:157835
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Alg12-Cdg
Hypospadias, Hyponatremia, Decreased serum insulin-like growth factor 1, Hypocholesterolemia, Chr... ORPHA:79324
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Senior-Boichis Syndrome
Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... ORPHA:84081
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Pneumonia, Elevated circulating creatinine concentration, Glomerula... ORPHA:247691
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Caudal Regression Sequence
Hypertension, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Maternal diabetes,... ORPHA:3027
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Chronic kidney disease, Respiratory failure... ORPHA:805
Holoprosencephaly
Hyponatremia, Failure to thrive in infancy, Hypoplasia of penis, Respiratory insufficiency, Diabe... ORPHA:2162
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic endocrine tumor, Myocarditis, Hypertension, Retinal capillar... ORPHA:892
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Exertional dyspnea, Hypertension, Myocardial infarction OMIM:133100
Renal Agenesis
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... ORPHA:411709
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Basal cell carcinoma, Squamous cell ... ORPHA:363618
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chro... OMIM:613159
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Hypergonadotropic hypogonadism, Ischem... ORPHA:280679
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Hypertrophic cardiomyopathy, Hypertension, Respiratory insufficiency, Small for gest... OMIM:614052
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Failure to thrive, Pal... ORPHA:525731
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pulmonary arterial hypertension, Unilateral renal agenesis OMIM:608406
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Elevated... OMIM:242900
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Porphyria
Hypertension, Abnormal urinary color, Abnormal circulating porphyrin concentration ORPHA:738
Granulomatosis With Polyangiitis
Sinusitis, Abnormality of the hypothalamus-pituitary axis, Cerebral ischemia, Recurrent intrapulm... ORPHA:900
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Renal agenesis, Proteinuria, Hypertension OMIM:191830
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hepatocellular carcinoma, Neoplasm of the liver, Hypercholesterolemia, Diabetes mel... ORPHA:69663
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Lead Poisoning
Hypertension, Renal tubular dysfunction, Tubulointerstitial nephritis, Abnormal respiratory syste... ORPHA:330015
Von Hippel-Lindau Syndrome
Hypertension, Retinal capillary hemangioma, Pulmonary capillary hemangiomatosis, Renal cell carci... OMIM:193300
Overlap Myositis
Hypertension, Elevated circulating creatine kinase concentration, Abnormal circulating lipid conc... ORPHA:206572
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, B... ORPHA:37553
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Beta-Ketothiolase Deficiency
Hypertension, Tachypnea, Weight loss, Cough, Hyperuricemia, Hyperammonemia, Hypotension, Ketonuria ORPHA:134
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... OMIM:223900
Methylcobalamin Deficiency Type Cble
Hyperhomocystinemia, Hypomethioninemia, Hypertension, Failure to thrive, Hemolytic-uremic syndrom... ORPHA:2169
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Congenital Hypothyroidism
Sinusitis, Hypertension, Goiter, Nephrolithiasis, Hypogonadism, Abnormality of the thyroid gland,... ORPHA:442
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Japanese Encephalitis
Hyponatremia, Abnormal pattern of respiration, Inappropriate antidiuretic hormone secretion, Resp... ORPHA:79139
Spondyloenchondrodysplasia
Hypertension, Pneumonia, Hematuria, Raynaud phenomenon, Enchondroma, Vasculitis, Hypothyroidism, ... ORPHA:1855
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertension, Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Hepatocellular carcinoma, Tubu... ORPHA:79259
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of the skin, Oliguria, Conge... ORPHA:220393
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Epistaxis, Increased circulating ferritin concentration, Hypertrig... ORPHA:167
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Maternal diabetes, Insulin-resistant diabetes mellitus... ORPHA:79083
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Hypokalemia, Card... ORPHA:466677
Galloway-Mowat Syndrome 3
Hypertension, Nephrotic syndrome, Failure to thrive, Glomerular sclerosis, Stage 5 chronic kidney... OMIM:617729
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hypertension, Chronic pulmonary obstruction, Elevated circulating creatine kinase concentration, ... ORPHA:437572
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Hypocalcemic tetany, Calcinosis, Pr... ORPHA:79443
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Cardiomyopathy, Congestive heart failure... ORPHA:90970
Buschke-Ollendorff Syndrome
Hemangioma, Hypertension, Renal insufficiency ORPHA:1306
Sickle Cell Anemia
Hypoxemia, Hematuria, Hypertension, Renal insufficiency OMIM:603903
Coach Syndrome 1
Hypertension, Nephronophthisis, Multipl