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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 2.12×10-05
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Skull Dorso Ventral Orientation

11 Images

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Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

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
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Renal salt wasting, Pseud... OMIM:264350
Liddle Syndrome
Arrhythmia, Constipation, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insuff... ORPHA:526
Liddle Syndrome 1
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Hypokalemic al... OMIM:177200
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary hyperaldoster... 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
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia, Hypertension OMIM:618126
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Renal salt wasting, Pseud... OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Rena... OMIM:610600
Upington Disease
Premature epimetaphyseal fusion, Arthralgia of the hip, Flat capital femoral epiphysis, Broad fem... ORPHA:3408
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Congenital hypothyroidism, Failure to thrive, Hyperkalemia, Pre... OMIM:614736
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Familial Hyperaldosteronism Type Ii
Metabolic alkalosis, Intracranial hemorrhage, Nausea, Secretory adrenocortical adenoma, Epistaxis... ORPHA:404
Liddle Syndrome
Arrhythmia, Constipation, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insuff... ORPHA:526
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Intracranial hemorrhage, Nausea, Epistaxis, Hypertension, Glucocortocoid-ins... ORPHA:251274
Liddle Syndrome 1
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Hypokalemic al... OMIM:177200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Hyperaldosteronism, Increased urinary potassium, Decrease... OMIM:613090
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Hyperaldos... OMIM:177735
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Decreased circulating aldost... OMIM:203400
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Upington Disease
Arthralgia of the hip, Flattened femoral head, Broad femoral neck OMIM:191520
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Liddle Syndrome 2
Metabolic alkalosis, Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Hyperaldosteronism, Increase... OMIM:602522
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Metabolic alkalosis, Increased circulating cortisol level, Neoplasm of the adrenal ... ORPHA:231625
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Failure to t... OMIM:214700
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Increased circulating renin level OMIM:619406
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Primary Unilateral Adrenal Hyperplasia
Palpitations, Metabolic alkalosis, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive pr... ORPHA:231580
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Proximal tubulopathy, Nausea, Increased serum prostaglandin E2,... OMIM:241150
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Metabolic alkalosis, Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular... OMIM:615474
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Ectopic Aldosterone-Producing Tumor
Metabolic alkalosis, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperald... ORPHA:231632
Adrenal Hypoplasia, Congenital
Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insufficiency, Hyponatr... OMIM:300200
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hypokalemia, Hydronephrosis, Alkalosis, Central diabetes insipidus OMIM:304900
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Nausea, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnor... ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Adr... OMIM:613677
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Lactic a... ORPHA:31824
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Decreased circulating renin level, Adrenal... OMIM:103900
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypokalemic metabolic alkalosis, Hypertension, Abnormality of circulating co... ORPHA:320
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Metabolic alkalosis, Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage,... ORPHA:369929
Apparent Mineralocorticoid Excess
Metabolic alkalosis, Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circ... OMIM:218030
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... OMIM:607364
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
East Syndrome
Enuresis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting, Renal sodium... ORPHA:199343
Central Diabetes Insipidus
Nocturia, Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus ORPHA:178029
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia OMIM:240200
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Renal salt wasting, Hyperaldosteronism OMIM:613743
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Finger syndactyly ORPHA:1891
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting, Chronic kidney disease, Failure to thr... OMIM:613845
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism OMIM:145260
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Metabolic acidosis, Vomiting, Nephroc... OMIM:602722
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronism, Increased circula... OMIM:612780
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:171876
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Hip dysplasia, Genu valgum, Acetabular dysplasia, Coxa valga OMIM:613618
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Glucocorticoid Resistance, Generalized
Metabolic alkalosis, Hypertension OMIM:615962
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lactic acidosis, Ketoacidosis, Increased serum lactate, Ketonuria, Respiratory alkalosis, Hyperal... OMIM:615751
Hereditary Coproporphyria
Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Nephropathy, Abnormal circu... ORPHA:79273
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:613239
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypokalemic alkalosis, Hypertension, Adrenogenital syndrome OMIM:202110
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Adrenocorticotropin deficient adrenal insuffi... ORPHA:199296
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Hypokalemia, Tachycardia, Hyperthyroidism OMIM:188580
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Failure to thrive OMIM:618426
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Fl... OMIM:142669
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Glomerulopathy With Fibronectin Deposits 1
Proteinuria, Nephropathy, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Ne... OMIM:137950
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, ... ORPHA:91354
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Weight loss, Hypercalcemia, Failure to thrive, Renal insufficiency, Nep... ORPHA:35710
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Abnormal hip bone morphology, U... ORPHA:1146
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Renal salt wasting, Hyperactive renin-angiotensin system,... OMIM:241200
Acute Adrenal Insufficiency
Hyperuricemia, Delayed puberty, Hypercalcemia, Diarrhea, Hyperkalemic metabolic acidosis, Decreas... ORPHA:95409
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Constipat... ORPHA:223
Microvillus Inclusion Disease
Abnormal renal physiology, Hypovolemia, Diarrhea, Metabolic acidosis, Nephrocalcinosis ORPHA:2290
Pyloric Stenosis, Infantile Hypertrophic, 1
Hypochloremic metabolic alkalosis, Projectile vomiting OMIM:179010
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Proteinuria, Aminoaciduria, Glycosuria, Hypokalemia, Renal insu... OMIM:134600
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Decreased... ORPHA:95512
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Increased circulating ACTH level, Hypokalemia, Alkalosis, Nephrolithiasis, Pituitar... OMIM:219090
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Situs inversus totalis, Enlarged kidney, ... OMIM:602088
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Intracranial... ORPHA:90795
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Constipation, Renal potassium wasting, Polyur... OMIM:263800
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hyperaldosteronism, Hypercalciuria,... ORPHA:73224
Hyperkalemic Periodic Paralysis
Hyponatremia, Death in infancy, Hypokalemia, Death in early adulthood, Elevated circulating creat... ORPHA:682
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Decreased... ORPHA:95513
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Lactic acidosis, ... ORPHA:173
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Addison Disease
Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone lev... ORPHA:85138
Mercury Poisoning
Acute kidney injury, Hypotension, Nausea, Hypertension, Hypokalemia, Episodic vomiting, Tachycardia ORPHA:330021
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Cystinosis
Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Hypothyroidism, Aminoacidu... ORPHA:213
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:289548
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Increas... ORPHA:90790
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart... OMIM:615703
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Delayed puberty, Decreased circulating aldosterone level,... ORPHA:168558
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Metabolic alkalosis, Increased circulating cortisol level, Abno... ORPHA:786
Malignant Hyperthermia, Susceptibility To, 1
Mixed respiratory and metabolic acidosis, Hypotension, Tachycardia, Myoglobinuria, Elevated circu... OMIM:145600
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, Pericardial effusion, Nocturia, Abnorm... ORPHA:358
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Abnormality of femur morphology, Abnor... ORPHA:1802
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Lactic acidosis, Abnormal left ventricular function, ... OMIM:540000
Hypochondroplasia
Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormality of pelvic girdle bone ... OMIM:146000
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Constipation, Abnormal circulating lipid concentration, Hypertension, Co... ORPHA:225
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Chronic acidosis, G... OMIM:227810
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Nephroca... OMIM:614473
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hyponatremia, Hashimoto thyroiditis ORPHA:83601
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Polyuria, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Polyuria, Failure to thrive, Diabetes insipidus OMIM:304800
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulat... ORPHA:100924
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Central hypothyroidism, Hyperbilirubinemia, Hy... ORPHA:1667
Coproporphyria, Hereditary
Constipation, Hypertension, Hepatomegaly, Tachycardia, Diarrhea, Splenomegaly, Vomiting, Increase... OMIM:121300
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Citrullinemia Type I
Gastroesophageal reflux, Respiratory alkalosis, Vomiting, Hyperammonemia, Elevated plasma citrulline ORPHA:247525
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hypoargininemia, Respiratory alkalosis, Vomiting, Hyperammonemia, Episodic... OMIM:237300
Hypomagnesemia 2, Renal
Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency OMIM:154020
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Hypertension, Proteinuria ORPHA:2820
Trimethylaminuria
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly OMIM:602079
Proximal Renal Tubular Acidosis
Global proximal tubulopathy, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular ... ORPHA:47159
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Decreased... ORPHA:91355
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hyperglutaminemia, Respiratory alkalosis, Vomiting, Hyperammonemia, Episod... OMIM:311250
Ethanolaminosis
Cardiomegaly OMIM:227150
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, El... OMIM:603233
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:268500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Hypertension, Proteinuria ORPHA:2613
Mirage Syndrome
Microphallus, Hypergonadotropic hypogonadism, Hyponatremia, Recurrent urinary tract infections, D... OMIM:617053
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Hypovolemia, Hypotension, Primary adrenal insufficiency, Adren... ORPHA:275761
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Increased serum lactate, Hepatomegaly, Nephrotic syndrome, Left ventricular hyper... OMIM:617713
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hematochezia, Xerostomia, Vomiting, Hypokalemia, Diarrhea, Hypomagnesemia OMIM:175500
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Chronic kidney dise... ORPHA:79473
Scorpion Envenomation
Mixed respiratory and metabolic acidosis, Cardiac conduction abnormality, Acute kidney injury, Re... ORPHA:466677
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Hypertension, Myocardial infarction, Microscopic hematuria, Chronic kidney d... ORPHA:54370
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Generalized distal tubular acidosis, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:601894
Snakebite Envenomation
Hyponatremia, Acute kidney injury, Hypopituitarism ORPHA:449285
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... ORPHA:97289
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hypothyroidism, Hyponatremia, Polyuria, Hypertriglyceridemia, Renal dysplasia, Hypo... OMIM:618183
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, Nephritis, Proteinuria OMIM:613944
Cushing Disease
Hypertension, Telangiectasia of the skin, Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Ne... ORPHA:96253
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Cerebral hemorrhage, Vomiting, Elevated c... ORPHA:90068
Infantile Nephropathic Cystinosis
Hypophosphatemia, Renal tubular dysfunction, Low-molecular-weight proteinuria, Hyperphosphaturia,... ORPHA:411629
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Acute Intermittent Porphyria
Dysuria, Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Urinary incontinen... ORPHA:79276
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Metabolic alkalosis, Increased serum lactate,... OMIM:616239
Lcat Deficiency
Hematuria, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficiency, P... ORPHA:650
Pearson Syndrome
Hypocalcemia, Cardiac conduction abnormality, Proteinuria, Lactic acidosis, Hypomagnesemia, Renal... ORPHA:699
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hypergon... ORPHA:95613
Birk-Landau-Perez Syndrome
Renal insufficiency, Tubulointerstitial nephritis, Hyperkalemia, Hyperechogenic kidneys OMIM:617595
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
Iga Nephropathy, Susceptibility To, 3
Stage 5 chronic kidney disease, Hematuria, Hypertension, Proteinuria OMIM:616818
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia, Acute kidney injury, Myoglobinuria ORPHA:57
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Hypovolemia, Nausea, Capillary leak, Enlarged polycysti... ORPHA:64739
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Constipation, Hyperchloremic... ORPHA:18
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lactic acidosis, Hypertension OMIM:605711
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Elevated circulating creatine kin... ORPHA:94093
Rabson-Mendenhall Syndrome
Atrial septal defect, Long penis, Ventricular septal defect, Enlarged ovaries, Hypothyroidism, In... ORPHA:769
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension OMIM:618681
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Legionnaires Disease
Hematuria, Hyponatremia, Pancreatitis, Renal insufficiency, Proteinuria ORPHA:549
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hypokalemia ORPHA:681
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Hyperchloremic metabolic... OMIM:618913
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Acute kidney injury, Anuria, Elevated circulating creatinine concentr... ORPHA:90038
Thyrotoxic Periodic Paralysis
Palpitations, Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with ... ORPHA:79102
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypohidrosis, Male hypogonadism, Exocrine pancreatic insufficiency, G... OMIM:219800
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Hypertension, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Webb-Dattani Syndrome
Neurogenic bladder, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflux, Hydronephrosi... OMIM:615926
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Elevated circulating creatinine concentrat... ORPHA:275555
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Xerostomia, Hypokalemia, Nephrolithiasis, Renal insuffi... OMIM:617671
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating grow... ORPHA:91347
Fibronectin Glomerulopathy
Hypertension, Microscopic hematuria, Cerebral hemorrhage, Hypoalbuminemia, Nephrotic syndrome, Re... ORPHA:84090
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Arrhythmia, Hypertension, Ventricular septal defect OMIM:617021
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hematuria, Death in infancy, Hypercalciuria, Delayed puberty, Renal insuffi... ORPHA:534
Citrullinemia, Classic
Hypoargininemia, Hyperglutaminemia, Hepatomegaly, Respiratory alkalosis, Oroticaciduria, Vomiting... OMIM:215700
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Constipation, Nephropathy, Atrioventricular block, Diarrhe... ORPHA:85447
Leprechaunism
Hyperinsulinemia, Long penis, Enlarged kidney, Central hypothyroidism, Hyperaldosteronism, Increa... ORPHA:508
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... OMIM:170390
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... ORPHA:2370
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote... ORPHA:3337
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hypertension, Diarrhea, Vomiting, Hyperthyroidism OMIM:231690
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Renal tubular acidosis, Diarrhea, Cardiomegaly, Elevated circulating cr... OMIM:255120
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension ORPHA:79084
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Increased level of L-fucose in urine, Increased le... OMIM:215600
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Ethylene Glycol Poisoning
Elevated serum anion gap, Hypocalcemia, Renal insufficiency, Hematuria, Renal tubular dysfunction... ORPHA:31826
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death, Small for gestational age OMIM:300076
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Proteinuria, Abnormal cardiac ventricular fu... ORPHA:439232
Hepatocellular Carcinoma
Metabolic alkalosis, Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chi... ORPHA:88673
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hyperuricemia, Hypertension, Renal insufficiency, Cardiomyopathy ORPHA:3222
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, Nephritis, Proteinuria OMIM:161950
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Whipple Disease
Hypothyroidism, Hyponatremia, Cachexia ORPHA:3452
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97282
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Failure to thrive, Nephrocalcinosis, Hyper... OMIM:239199
Infant Botulism
Xerostomia, Hyponatremia ORPHA:178478
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary dopamine, Increased circulating cortisol level, Pheochromocytoma, Elevated urina... OMIM:171400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Lactic acidosis, Increased serum lactate, Tricuspid regurgitation, Hyper... OMIM:619051
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Nausea, Hypertensio... ORPHA:90065
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Glomerulonephri... ORPHA:567544
Familial Dysautonomia
Hypohidrosis, Hyponatremia, Glomerulopathy, Hyperhidrosis, Renal insufficiency, Abnormality of th... ORPHA:1764
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatomegaly, Respiratory alkalosis, Oroticaci... OMIM:207900
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Diarrhea, Hypertension OMIM:616069
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Shigellosis
Acute kidney injury, Hyponatremia, Abnormal blood ion concentration, Failure to thrive in infancy... ORPHA:810
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Pheochromocytoma, Elevated urinary norepinephrine, Episodic hype... OMIM:171420
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Abnorm... ORPHA:2725
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, L... OMIM:616733
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Vomiting, Prolonged QTc interval, Syncop... ORPHA:66529
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Dysphagia, Achalasia, Hypertension, Raynaud phenomenon OMIM:615750
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Elevated circulating creatinine concentration, Hypertension, Dextrocardia... OMIM:613095
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia, Colitis ORPHA:88643
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Ventricular extrasystoles, Myoglobinuria, Ventricular tachycardia, Elevated ... ORPHA:423
Juvenile Polyposis Syndrome
Hypokalemia, Diarrhea, Hypoalbuminemia, Hematochezia OMIM:174900
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Hypertension, Renal tubular acidosis, Pulmonic... OMIM:610205
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Narrow pelvis bone, Ulnar ... OMIM:610797
Non-Functioning Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:94080
Acute Liver Failure
Alkalosis, Acute kidney injury, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension... ORPHA:90062
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hypertension OMIM:608600
Fabry Disease
Arrhythmia, Angina pectoris, Nausea, Urinary mulberry cells, Hypertension, Lipiduria, Myocardial ... OMIM:301500
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Hypertensive crisis, Hypertension, Hypokalemia, Diarrh... ORPHA:99889
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased serum lactate, Hypertension, Congestive heart failure, Dilate... ORPHA:1349
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephropathy, Hypertension, Type I diabetes mellitus, Nephrotic ... ORPHA:1192
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmonary ... OMIM:619064
Ochoa Syndrome
Urethral obstruction, Constipation, Hypertension, Bowel incontinence, Urinary incontinence, Vesic... ORPHA:2704
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension ORPHA:90044
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Hypertension, Stage 5 chronic kidney disease ORPHA:3156
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hyponatremia, Oliguria, P... ORPHA:544482
Hypochondroplasia
Abnormality of femur morphology, Bowing of the long bones, Genu varum, Short toe, Abnormality of ... ORPHA:429
Potocki-Shaffer Syndrome
Hypothyroidism, Delayed puberty, Micropenis, Hypertension ORPHA:52022
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:208000
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Hyperalaninemia, Hyperpro... OMIM:619003
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Short thumb, Short metacarpal, Abnormality of ... ORPHA:968
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Abnormality of pelvic ... OMIM:144750
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hypertension, Polycystic kidney dysplasia, Mitral valve prolapse, Mitral reg... OMIM:173900
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypertension, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Isolated Permanent Neonatal Diabetes Mellitus
Abnormal heart morphology, Hypovolemia, Moderate albuminuria, Ketonuria, Glycosuria, Neonatal ins... ORPHA:99885
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Transien... ORPHA:36382
Coxoauricular Syndrome
Hip dislocation, Abnormality of pelvic girdle bone morphology, Abnormality of femur morphology ORPHA:1508
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Focal segmental glomerulosclerosis, Lactic acidosis, Hyperuricemia,... OMIM:232200
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... OMIM:618620
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Vomiting, Cardiomegaly, Elevated c... OMIM:600649
Beta-Ketothiolase Deficiency
Hypotension, Ketoacidosis, Increased serum lactate, Hyperuricemia, Hypertension, Ketonuria, Hepat... ORPHA:134
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Lactic acidosis, Decreased circulating cortis... OMIM:618838
Glycogen Storage Disease Ic
Xanthelasma, Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Lactic acidosis, H... OMIM:232240
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Cardiomegaly, Prolonged QT interval, Pat... OMIM:601005
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Abnormality of the hypothalamus-pituitary axis, Premature adrenarche, Central hypot... ORPHA:293987
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Holoprosencephaly
Panhypopituitarism, Abnormality of the urinary system, Hyponatremia, Failure to thrive in infancy... ORPHA:2162
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve OMIM:613355
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Hepatomegaly, Testicular atrophy, Conge... OMIM:235200
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Rhabdoid Tumor
Hypertension, Hypercalcemia, Hematuria, Internal hemorrhage ORPHA:69077
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Abnormality of pelvic girdle bone morphology, Ulnar devia... ORPHA:2928
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Hypertension, Proteinuria OMIM:166300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Increased serum lactate, Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly,... OMIM:619170
Frasier Syndrome
Renal insufficiency, Increased circulating gonadotropin level, Focal segmental glomerulosclerosis... ORPHA:347
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Hypertension, Cerebral hemorrh... OMIM:618886
Denys-Drash Syndrome
Nephropathy, Proteinuria, Hypertension, Nephrotic syndrome ORPHA:220
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Hypergonadotropic hypogonadism, Hypertension, Delayed puberty, Cerebral hemorrha... ORPHA:280679
Sneddon Syndrome
Intracranial hemorrhage, Nephropathy, Hypertension ORPHA:820
Leigh Syndrome With Nephrotic Syndrome
Severe lactic acidosis, Increased serum lactate, Renal tubular acidosis, Nephrotic syndrome, Tubu... ORPHA:255249
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, C... OMIM:212140
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Hypertension, Insulin-resistant diabetes mell... OMIM:604367
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stress urinary incontinence, Intracranial hemorrhage, Dysphagia, Hypertension, C... ORPHA:136
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Abnormal circulating citrulline concentration, Hepatomegaly, Respiratory alkal... ORPHA:415
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... ORPHA:976
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Hypertension a... ORPHA:276621
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension, Splenomegaly OMIM:133100
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Hypertension, Pulmona... OMIM:608406
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis, Paratho... OMIM:145981
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Focal segmental glomerulosclerosis, Lactic acidosis, Hyperuricemia,... OMIM:232220
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Nephrolithiasis, Macronodular adrenal hyperplasia, Hypertension ORPHA:189427
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hypertension, Hepatomegaly, Ab... OMIM:263200
Ganglioneuroma
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... ORPHA:251992
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Gastroesophageal reflux, Sudden cardiac de... OMIM:201475
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Hypertension, Tachycardia, Micropenis OMIM:613870
Thoracomelic Dysplasia
Genu valgum, Abnormality of the metaphysis, Abnormality of fibula morphology, Abnormality of pelv... ORPHA:1803
Stiff Skin Syndrome
Nephrolithiasis, Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus ORPHA:2833
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Hyponatremia, Oliguria,... ORPHA:731
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypertension ORPHA:181
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Gastroesophageal reflux, Right ventricular hypertrophy, Hyperten... OMIM:613623
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Danon Disease
Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-Whi... OMIM:300257
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Heart block, Cardiomegaly, Elevated circulating creatine kinase concentration, R... ORPHA:228308
Mccune-Albright Syndrome
Hypophosphatemia, Abnormal endocrine physiology, Renal phosphate wasting, Elevated circulating gr... ORPHA:562
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Hypertension, Elevated circulating C-reactive protein concentra... ORPHA:767
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension ORPHA:363400
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Congestive heart failure, Cardio... OMIM:269920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Elevated circulating creatinine conce... OMIM:174000
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Constipation, Nausea, Hypertension, Urinary incontinence, Tachycardia, ... OMIM:176000
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Diabetes m... OMIM:615830
African Iron Overload
Increased circulating ferritin concentration, Increased circulating cortisol level, Abnormality o... ORPHA:139507
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Stevens-Johnson Syndrome
Dysuria, Hypokalemic metabolic alkalosis, Gastrointestinal hemorrhage, Dysphagia, Sudden cardiac ... ORPHA:36426
Primary Lipodystrophy
Angina pectoris, Hypertension, Congestive heart failure, Type II diabetes mellitus, Splenomegaly,... ORPHA:90970
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short middle phalanx of finger, Hitchhiker thumb, Short greater sciatic no... OMIM:256050
Pheochromocytoma
Positive regitine blocking test, Pheochromocytoma, Elevated urinary norepinephrine, Episodic hype... OMIM:171300
Porphyria
Abnormal urinary color, Constipation, Hypertension, Diarrhea, Abnormal circulating porphyrin conc... ORPHA:738
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Hsd10 Disease, Infantile Type
Dysphagia, Lactic acidosis, Increased serum lactate, Abnormal concentration of acylcarnitine in t... ORPHA:391428
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension... OMIM:123550
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Riboflavin Transporter Deficiency
Dysphagia, Hypogonadism, Hypertension, Diabetes insipidus ORPHA:97229
Alstrom Syndrome
Renal insufficiency, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypot... OMIM:203800
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Hypoth... ORPHA:465508
Tetanus