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Gene: Scnn1b MGI:104696

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Gene Summary

Name:
sodium channel, nonvoltage-gated 1 beta
Synonyms:
ENaC beta

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Scnn1btm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal pelvic girdle bone morphology Scnn1btm1b(EUCOMM)Hmgu HET Early adult 2.26×10-05
increased circulating fructosamine level Scnn1btm1b(EUCOMM)Hmgu HET Early adult 1.06×10-05

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
Aorta  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 50% (1 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote Not available
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder 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)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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)
Prostate gland N/A heterozygote 0.0% (0 of 2)
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)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea 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)
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)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote Not available
Forebrain N/A homozygote Not available
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote Not available
Hindbrain N/A homozygote Not available
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote Not available
Midbrain N/A homozygote Not available
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Phenotype associated images not available

Human diseases caused by Scnn1b mutations

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

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

The table below shows human diseases associated to Scnn1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Nephropathy, Arr... ORPHA:526
Liddle Syndrome 1
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldo... OMIM:177200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Bronchiectasis With Or Without Elevated Sweat Chloride 1
OMIM:211400

The table below shows human diseases predicted to be associated to Scnn1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... OMIM:610600
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo... ORPHA:404
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens... ORPHA:251274
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... OMIM:614736
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Nephropathy, Arr... ORPHA:526
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556037
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Liddle Syndrome 1
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldo... OMIM:177200
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... OMIM:203400
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Liddle Syndrome 2
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:618114
Liddle Syndrome 3
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:618126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h... ORPHA:231625
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... ORPHA:556030
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Metabolic alkalosis, Nephrolithiasis, Biventricular hypertrophy, Hyper... OMIM:615474
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231632
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Metabolic alk... ORPHA:369929
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Secretory diarrhea, ... OMIM:214700
Apparent Mineralocorticoid Excess
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:218030
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Diarrhea, C... ORPHA:31824
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... OMIM:613677
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... ORPHA:320
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Diarrhea,... ORPHA:427
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... OMIM:300539
Central Diabetes Insipidus
Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Glucocorticoid Resistance, Generalized
Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis... OMIM:615962
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular... OMIM:602722
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Acetabular dysplasia, Genu valgum, Coxa valga OMIM:613618
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... ORPHA:97362
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... OMIM:601198
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... ORPHA:361
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction OMIM:608320
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemic alkalosis, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... OMIM:612780
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hepatosplenomegaly, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal ... OMIM:611590
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... OMIM:615751
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter OMIM:188580
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... OMIM:613095
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Hereditary Coproporphyria
Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... ORPHA:79273
Glomerulopathy With Fibronectin Deposits 1
Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Hyperten... OMIM:137950
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Hypochloremic metabolic alkalosis OMIM:179010
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Alkalosis, Nephrolithiasis, Hypertension, Hy... OMIM:219090
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarction, Renal salt wasti... ORPHA:95409
Polycystic Kidney Disease 7
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease OMIM:620056
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... ORPHA:223
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... OMIM:241200
Microvillus Inclusion Disease
Diarrhea, Hypovolemia, Metabolic acidosis, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated... OMIM:602088
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism OMIM:617027
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... OMIM:201810
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentra... ORPHA:173
Gitelman Syndrome
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, ... OMIM:263800
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Hyperkalemic Periodic Paralysis
Hyponatremia, Death in infancy, Death in early adulthood, Elevated circulating creatine kinase co... ORPHA:682
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph... ORPHA:213
Mercury Poisoning
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury, Episodic vomiting, Nausea ORPHA:330021
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... OMIM:145600
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I... ORPHA:786
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Lactic acidosis, Abn... OMIM:540000
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... ORPHA:168558
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ... ORPHA:681
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... ORPHA:90794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomi... OMIM:237300
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... ORPHA:85138
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Diarrhea, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... ORPHA:1802
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constipation, Type II d... ORPHA:225
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... ORPHA:1667
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypernatremia, Failure to thrive, Diabetes insipidus OMIM:304800
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... ORPHA:79644
Citrullinemia Type I
Respiratory alkalosis, Hyperammonemia, Gastroesophageal reflux, Vomiting, Elevated plasma citrulline ORPHA:247525
Trimethylaminuria
Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... OMIM:202010
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Patent urachus, Death in childhood, Failure to thrive OMIM:618252
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... ORPHA:100924
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... OMIM:615238
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acido... OMIM:614096
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stim... OMIM:618183
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:601894
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Bicarbonate-wasting renal tubular acidosis, Hypovolemia, Bicarbonatu... ORPHA:47159
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Diarrhea, Primary ... ORPHA:275761
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hy... ORPHA:90041
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia OMIM:175500
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Scorpion Envenomation
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Vomiti... ORPHA:466677
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokal... OMIM:617913
Nail-Patella-Like Renal Disease
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Porphyria Variegata
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... ORPHA:79473
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia OMIM:608688
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Chronic acidosis, Hypercal... OMIM:227810
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Acute kidney injury ORPHA:449285
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... ORPHA:97289
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub... ORPHA:411629
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... OMIM:603278
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati... ORPHA:31825
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:613944
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Citrullinemia, Classic
Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica... OMIM:215700
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pearson Syndrome
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... ORPHA:699
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypovolemia, Capillary lea... ORPHA:64739
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:616818
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... OMIM:616239
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Hype... ORPHA:79276
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Diarrhea, Peritonitis, Elevated circulating creatini... ORPHA:90038
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Alg8-Cdg
Hyponatremia, Failure to thrive, Small for gestational age ORPHA:79325
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Decreas... ORPHA:18
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Nephropathy, Arrhyt... ORPHA:85447
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha... OMIM:618913
Preeclampsia
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Elevated dias... ORPHA:275555
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Hypoalbu... ORPHA:84090
Legionnaires Disease
Hyponatremia, Renal insufficiency, Proteinuria, Hematuria, Pancreatitis ORPHA:549
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... ORPHA:91347
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Helix Syndrome
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis,... OMIM:617671
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Bloody diarrhea, Lactic acidosis, Vomiting, H... ORPHA:99826
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder, Small for gestational age OMIM:300076
Leprechaunism
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... ORPHA:508
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... ORPHA:2370
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Increased serum ... OMIM:619051
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension ORPHA:79084
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Argininosuccinic Aciduria
Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica... OMIM:207900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Lactic acidosis, Perimembranous ventricular septal defect, Atrial sept... OMIM:620135
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Cardiomyopathy, Hypertension, Hyperuricemia, Arrhythmia ORPHA:3222
Vipoma
Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon... ORPHA:97282
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:161950
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... OMIM:619573
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c... OMIM:311250
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Increased serum lactate, Hyperammonemia, Lactic acidosis, Met... OMIM:614702
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter OMIM:231690
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic aci... OMIM:618528
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, C... ORPHA:31826
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Infant Botulism
Hyponatremia, Xerostomia ORPHA:178478
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Death in infancy, Hypokalemia, Death in childhood, Failure to thrive OMIM:618426
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat... ORPHA:1349
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Acute kidney injury, Diarrhea, Alkalosis, Hyperammonemia, Int... ORPHA:90062
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u... ORPHA:94080
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... ORPHA:2639
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Whipple Disease
Hyponatremia, Hypothyroidism, Cachexia ORPHA:3452
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Hypokalemia, Hypoalbuminemia OMIM:174900
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Hyperhidrosis, Hypo... ORPHA:1764
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Myoglobinuria, Cardiomyocyte mitochondrial proliferation, V... ORPHA:423
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Elevated circulating creatinine concentration, Abnorm... OMIM:616733
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Increased serum lactate, Hyperprolinemia, Pulmonary ... OMIM:619064
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Increased serum lactate, Lactic acidosis, Metabolic ... OMIM:617021
Ochoa Syndrome
Renal insufficiency, Urinary incontinence, Bowel incontinence, Urethral obstruction, Hypertension... ORPHA:2704
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Proteinuria, Hypertension, Nephrotic syndrome, Type I diabetes ... ORPHA:1192
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Shigellosis
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood... ORPHA:810
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... OMIM:170390
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:567544
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hypertension OMIM:608600
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Metaboli... ORPHA:94086
Andersen-Tawil Syndrome
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia ORPHA:37553
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Hypoalbuminemia, Hypocho... ORPHA:79324
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Increased serum lactate, Hyperprolinemia, Perimembranous ventricular septal defect,... OMIM:619170
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration OMIM:615508
Osteootohepatoenteric Syndrome
Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bil... OMIM:619377
Potocki-Shaffer Syndrome
Hypertension, Micropenis, Hypothyroidism, Delayed puberty ORPHA:52022
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diabetes mellitus, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Acut... ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... ORPHA:429
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia OMIM:615750
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 41
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... OMIM:618838
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morphology, ... ORPHA:99885
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... OMIM:615980
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology ORPHA:1508
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Increased serum lactate, Ketoacidosis, Diarrhea, Hyperammonemia, Metabol... ORPHA:134
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Hyperammonemi... OMIM:610505
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Episodic ... ORPHA:415
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Nephrolithiasis,... OMIM:232200
Léri-Weill Dyschondrosteosis
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... ORPHA:240
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Lactic acidosi... OMIM:232240
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... ORPHA:329918
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... ORPHA:3008
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Gastroesophageal reflux, V... ORPHA:85450
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... OMIM:235200
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy... OMIM:601005
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy ORPHA:820
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ... ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, I... OMIM:617713
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Secretory diarrhea, Vomiting OMIM:616069
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... OMIM:144750
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... ORPHA:136
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... OMIM:614034
Rhabdoid Tumor
Hematuria, Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Sinus tachycardia, Hypercalcemia, ... ORPHA:276621
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Jeune Syndrome
Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... ORPHA:474
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... ORPHA:347
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Myoca... ORPHA:36426
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Hyperlipidemia, Ne... OMIM:232220
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:220
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... ORPHA:2928
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... ORPHA:913
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... ORPHA:976
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... OMIM:131100
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Erythrocytosis, Familial, 1
Splenomegaly, Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Nephronophthisis 18
Hypertension, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:615862
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Stiff Skin Syndrome
Nephrolithiasis, Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Diarrhea, Paralytic ileus, Hypertension, Constipation... OMIM:176000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis OMIM:613870
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... OMIM:201475
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... ORPHA:767
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... ORPHA:228308
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Mccune-Albright Syndrome
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... ORPHA:562
Sneddon Syndrome
Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke OMIM:182410
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Central Hypoventilation Syndrome, Congenital, 3
Chronic constipation, Episodic hypertension, Episodic vomiting OMIM:619483
Thoracomelic Dysplasia