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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
increased circulating fructosamine level Scnn1btm1b(EUCOMM)Hmgu HET Early adult 1.06×10-05
abnormal pelvic girdle bone morphology Scnn1btm1b(EUCOMM)Hmgu HET Early adult 2.20×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 587)
aorta 0.17% (1 of 592)
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 586)
oral epithelium 0.0%
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 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 Skull Dorso Ventral Orientation

11 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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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, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... OMIM:264350
Liddle Syndrome
Hypokalemia, Constipation, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hyper... ORPHA:526
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,... OMIM:177200
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin level, Failure... 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
Hypertension, Hypokalemia, Metabolic alkalosis OMIM:618126
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... OMIM:610600
Upington Disease
Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia of the hip, Broad fem... ORPHA:3408
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hyponatremia, Hyperkalemia, Ren... OMIM:614736
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614495
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556037
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Familial Hyperaldosteronism Type Ii
Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulat... ORPHA:404
Liddle Syndrome
Hypokalemia, Constipation, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hyper... ORPHA:526
Familial Hyperaldosteronism Type Iii
Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxi... ORPHA:251274
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,... OMIM:177200
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Increased circulatin... OMIM:177735
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... OMIM:203400
Upington Disease
Flattened femoral head, Broad femoral neck, Arthralgia of the hip OMIM:191520
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia OMIM:614496
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... ORPHA:556030
Liddle Syndrome 2
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... OMIM:618114
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Metabolic alkalosis, Increased circu... ORPHA:231625
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... OMIM:602522
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... OMIM:214700
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Left ventricular hypertrophy, Ventricular sept... OMIM:615474
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Palpitations, Adrenal hyperplasia,... ORPHA:231580
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Metabolic alkalosis, Nausea, Decreased circulating renin level, Epistaxis, Hypertens... ORPHA:231632
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Hypokalemic alkalosis, Vomiting, Increased circula... OMIM:241150
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia, Polyuria, Alkalosis, Hydronephrosis, Central diabetes insipidus OMIM:304900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Ventricular septal de... ORPHA:369929
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Familial Hyperaldosteronism Type I
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Hy... ORPHA:403
Colchicine Poisoning
Abnormality of acid-base homeostasis, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia... ORPHA:31824
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... OMIM:613677
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Left ventricular hypertrophy, Abnormality o... ORPHA:320
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... OMIM:218030
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... OMIM:103900
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Metabolic acidosis, Proximal rena... ORPHA:427
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormal pelvic ... ORPHA:1509
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impair... ORPHA:89938
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia OMIM:300539
East Syndrome
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... ORPHA:199343
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Metabolic acidosis, Proximal renal tubular acidosis, Impaired renal tubular reabsorp... OMIM:604278
Central Diabetes Insipidus
Failure to thrive, Nocturia, Hyponatremia, Weight loss, Diabetes insipidus ORPHA:178029
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hyperkalemia, Hyponatremia OMIM:240200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... OMIM:613845
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal hip bone morphology ORPHA:1891
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting OMIM:613743
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:601678
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Metabolic acidosis, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephroc... OMIM:602722
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia, Hyperchloremic acidosis OMIM:145260
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin level, Failure... ORPHA:171876
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Renal potassium wasting, Increased circulat... OMIM:612780
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Glucocorticoid Resistance, Generalized
Hypertension, Metabolic alkalosis OMIM:615962
Hereditary Coproporphyria
Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Nephro... ORPHA:79273
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Hyperammonemia, Metabolic acidosis, Increased serum lactate, Ketoacidosis, Respiratory... OMIM:615751
Juvenile Nephropathic Cystinosis
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... ORPHA:411634
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Hypokalemic alkalosis OMIM:202110
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Hypokalemia, Metabolic acidosis, Hepatosplenomegaly, Distal re... OMIM:611590
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hyponatremia, Adrenocorticotropin defic... ORPHA:199296
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarction, Hypercholester... OMIM:610947
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Goiter OMIM:188580
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... OMIM:142669
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Acidosis, Nephropathy, Renal insufficiency, Proteinuria, Hypertension, Micros... OMIM:137950
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Goiter OMIM:613239
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Multiple renal cysts, Situs inversus total... OMIM:613095
Glucose-Galactose Malabsorption
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... ORPHA:35710
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failur... OMIM:241200
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Hypochloremic metabolic alkalosis OMIM:179010
Acute Adrenal Insufficiency
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... ORPHA:95409
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... ORPHA:91354
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189427
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Constipation, Hypovolemia, Hydroureter, Hyposthenuria, Hypernatre... ORPHA:223
Microvillus Inclusion Disease
Abnormal renal physiology, Metabolic acidosis, Hypovolemia, Diarrhea, Nephrocalcinosis ORPHA:2290
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Pituitary adenoma, Hypokalemia, Increased circulating ACTH level, Alkalosis, Hyp... OMIM:219090
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Aminoaciduria, Hypokalemia, Glycosuria, Pr... OMIM:134600
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cholera
Abnormality of renal excretion, Acidosis, Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycard... ORPHA:173
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... ORPHA:90795
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... ORPHA:73224
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Constipation, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Noctur... OMIM:263800
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Myoglobinuria, Tachycardia, Hypotension, Mixe... OMIM:145600
Cystinosis
Renal tubular dysfunction, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Aminoac... ORPHA:213
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Death in early adulthood, Death ... ORPHA:682
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Mercury Poisoning
Hypokalemia, Episodic vomiting, Tachycardia, Hypotension, Nausea, Acute kidney injury, Hypertension ORPHA:330021
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, S... OMIM:603278
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Miscarriage, Decreased circulating cortisol level, Abnormal... ORPHA:90794
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... ORPHA:289548
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... ORPHA:168558
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Metabolic alkalosis, In... ORPHA:786
Gitelman Syndrome
Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri... ORPHA:358
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Chronic kidney disease, Decreased body weight, Hyperbilirubine... ORPHA:1667
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... ORPHA:100924
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyponatremia ORPHA:83601
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Nephrogenic diabetes insipidus, Polyuria, Hypernatremia, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus OMIM:304800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Myocardial infarction, Hypertension, Nephrocalcinosis, Congestive heart... OMIM:614473
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Constipation, Abnormal circulating lipid concentration, Arrhythmia, Re... ORPHA:225
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Acidosis, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized amino... OMIM:227810
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to th... OMIM:219800
Coproporphyria, Hereditary
Hepatomegaly, Constipation, Splenomegaly, Tachycardia, Increased urinary porphobilinogen, Elevate... OMIM:121300
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininemia, Vomiting, ... OMIM:237300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... OMIM:202010
Citrullinemia Type I
Gastroesophageal reflux, Hyperammonemia, Vomiting, Respiratory alkalosis, Elevated plasma citrulline ORPHA:247525
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly OMIM:602079
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria, Stage ... OMIM:601894
Proximal Renal Tubular Acidosis
Nephrolithiasis, Hyperchloremic metabolic acidosis, Hypokalemia, Aminoaciduria, Hyperuricosuria, ... ORPHA:47159
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Scorpion Envenomation
Diarrhea, Glycosuria, Vomiting, Myocarditis, Bundle branch block, Tachycardia, Arrhythmia, Increa... ORPHA:466677
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... OMIM:603233
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Lysosomal Acid Lipase Deficiency
Acidosis, Steatorrhea, Adrenal calcification, Hypovolemia, Hepatosplenomegaly, Diarrhea, Abnormal... ORPHA:275761
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... ORPHA:99845
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Diarrhea, Vomiting, Hematochezia OMIM:175500
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Acute kidney injury, Renal ins... ORPHA:54370
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Recurr... OMIM:617053
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypothyroidism, Hypertriglyceridemia, Hy... OMIM:618183
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Metabolic acidosis, Increased serum lactate, Left ventricular h... OMIM:617713
Porphyria Variegata
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Increased urinary porphobil... ORPHA:79473
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Snakebite Envenomation
Hypopituitarism, Acute kidney injury, Hyponatremia ORPHA:449285
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Methanol Poisoning
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... ORPHA:31825
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Nelson Syndrome
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Hypokalemia, Increased circulating... ORPHA:199244
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Cocaine Intoxication
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Vomiting, Myocardial infarction,... ORPHA:90068
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Acidosis, Constipation, Aminoacidur... ORPHA:411629
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease OMIM:613944
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Metabolic... OMIM:616239
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Acute Intermittent Porphyria
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... ORPHA:79276
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... ORPHA:90041
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated lactate:pyruvate ratio, Steatorrhea, Gl... ORPHA:699
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Hypertension, Transient ischemic attack, Lacunar stroke OMIM:616779
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Acute kidney injury, Myoglobinuria, Hyperkalemia ORPHA:57
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Lactic acidosis, Pulmonary arterial hypertension OMIM:605711
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hypovolemia, Nausea, Increased circulating gonadotropin level... ORPHA:64739
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Iga Nephropathy, Susceptibility To, 3
Hypertension, Hematuria, Proteinuria, Stage 5 chronic kidney disease OMIM:616818
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Graves disease, Constipation, Hyperthyroidism, Episodic hypokalemia, Transient hy... ORPHA:79102
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... ORPHA:94093
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Hypokalemia, Hemoglobinuria, Peritonitis, Diarrhea, Vomiting, Myo... ORPHA:90038
Legionnaires Disease
Pancreatitis, Hematuria, Renal insufficiency, Proteinuria, Hyponatremia ORPHA:549
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Citrullinemia, Classic
Oroticaciduria, Hepatomegaly, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia, Hyp... OMIM:215700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Hypertension, Lactic acidosis, Arrhythmia OMIM:617021
Alg8-Cdg
Failure to thrive, Hyponatremia, Small for gestational age ORPHA:79325
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Precocious pube... ORPHA:769
Distal Renal Tubular Acidosis
Nephrolithiasis, Hyperchloremic metabolic acidosis, Hypokalemia, Constipation, Aminoaciduria, Dec... ORPHA:18
Fanconi Renotubular Syndrome 5
Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Gly... OMIM:618913
Attrv30M Amyloidosis
Constipation, Abnormal renal physiology, Diarrhea, Nephropathy, Arrhythmia, Cardiomegaly, Cardiom... ORPHA:85447
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Nephr... ORPHA:534
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Hypermagn... OMIM:617671
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Elevated circulating creatinine concent... ORPHA:275555
Hepatocellular Carcinoma
Type II diabetes mellitus, Hepatomegaly, Budd-Chiari syndrome, Metabolic alkalosis, Hyperbilirubi... ORPHA:88673
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Renal insufficiency, Proteinuria, Hypoalbuminemia, Hyper... ORPHA:84090
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... OMIM:615926
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension OMIM:105200
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Central adrenal insufficiency, Vomiting, Increased circulating prola... ORPHA:91347
Leprechaunism
Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weight, Increased circulating re... ORPHA:508
Marburg Hemorrhagic Fever
Diarrhea, Vomiting, Elevated circulating creatinine concentration, Pericarditis, Bloody diarrhea,... ORPHA:99826
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Abnormal metacarpal morphology, Abnormal pelvic gi... ORPHA:2370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death, Small for gestational age OMIM:300076
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... ORPHA:3337
Aapoaiv Amyloidosis
Cardiac amyloidosis, Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, L... ORPHA:439232
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Diarrhea, Arrhythmia, Elevated circulating ... OMIM:255120
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Vomiting, Glutaric aciduria, Hypertension, Goiter OMIM:231690
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Gastritis, Metabolic acidosis, Tachycardia, Hematuria, H... ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Metabolic acidosis, Increased serum lactate... OMIM:619051
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus ORPHA:79084
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age ORPHA:391673
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension OMIM:615750
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Abnormal B... ORPHA:66529
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Failure to thrive in infancy, Tubulointer... OMIM:617595
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy ORPHA:3222
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, Proteinuria, Hypertension, Stage 5 chronic kidney disease OMIM:161950
Infant Botulism
Xerostomia, Hyponatremia ORPHA:178478
Whipple Disease
Hypothyroidism, Cachexia, Hyponatremia ORPHA:3452
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Argininosuccinic Aciduria
Oroticaciduria, Hepatomegaly, Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoa... OMIM:207900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Atrial septal defect, Hepatomegaly, Elevated circulating C-reactive protein concentr... OMIM:619573
Vipoma
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Hepatomegaly, Elevated ... ORPHA:97282
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Vomiting, Cerebral isch... ORPHA:90065
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Renal ins... ORPHA:567544
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Acute Liver Failure
Adrenal insufficiency, Acidosis, Hyperammonemia, Intracranial hemorrhage, Diarrhea, Vomiting, Hyp... ORPHA:90062
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Diarrhea, Arrhythmia, Vomiting, Myocardial infarct... OMIM:301500
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Episodic ammonia intoxication, Hyperammonemia, Low plasma citrulline, Hyperglutam... OMIM:311250
Familial Dysautonomia
Abnormality of the kidney, Hypohidrosis, Renal insufficiency, Hyponatremia, Glomerulopathy, Hyper... ORPHA:1764
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Diarrhea, Vomiting OMIM:616069
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... OMIM:171400
Shigellosis
Urethritis, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Failure to thriv... ORPHA:810
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Elevated circulati... OMIM:616733
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma, Tachycardia, Episodic hyp... OMIM:171420
Juvenile Polyposis Syndrome
Diarrhea, Hypokalemia, Hypoalbuminemia, Hematochezia OMIM:174900
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum lactate, Increased serum pyruvate, Dilated cardiomyopathy, Hypertension, Hypertro... ORPHA:1349
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Hyperthyroidism, Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged ... OMIM:170390
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertension OMIM:608600
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Increased serum lactate, Hyperprolinemia, Hyperalaninemia, Pulmonary arterial hyper... OMIM:619064
Andersen-Tawil Syndrome
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia ORPHA:37553
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Type I diabetes mellitus, Prot... ORPHA:1192
Alg12-Cdg
Failure to thrive, Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, D... ORPHA:79324
Ochoa Syndrome
Constipation, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hypertension, Vesicouret... ORPHA:2704
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Pancreatitis, Nephrotic range proteinuria, Oliguria, Acute kidney injury, Hyponatre... ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Hyperala... OMIM:619003
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic pe... ORPHA:57777
Osteootohepatoenteric Syndrome
Hypokalemia, Episodic vomiting, Proteinuria, Grade II vesicoureteral reflux, Secretory diarrhea, ... OMIM:619377
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hypertension OMIM:613877
Hypochondroplasia
Abnormality of femur morphology, Short toe, Brachydactyly, Genu varum, Bowing of the long bones, ... ORPHA:429
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Potocki-Shaffer Syndrome
Hypothyroidism, Hypertension, Delayed puberty, Micropenis ORPHA:52022
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... ORPHA:3287
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Dilat... OMIM:600649
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Cuboidal metacarpal, Abnormally shaped carpal bones, Tarsal synostosis, Abnormal p... ORPHA:968
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Ketonuria, Hypovolemia, Glycosuria, Moderate albuminuria, Neonatal ins... ORPHA:99885
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen oval... OMIM:601005
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect OMIM:613355
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation ORPHA:1508
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting OMIM:201910
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... OMIM:173900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Beta-Ketothiolase Deficiency
Ketonuria, Acidosis, Hepatomegaly, Hyperammonemia, Metabolic acidosis, Increased serum lactate, D... ORPHA:134
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebral ischemia, Hypertension, Transien... ORPHA:36382
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Lactic acidosis, Elevated circulating creatine kinase conce... OMIM:618838
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... ORPHA:3008
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Metabolic acidosis, Hematuria... OMIM:232240
Holoprosencephaly
Hypoplasia of penis, Panhypopituitarism, Abnormality of the urinary system, Anterior hypopituitar... ORPHA:2162
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... OMIM:232200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Increased serum lactate, Hyperprolinemia, Hyperalaninemia, Perimembranous ventricular septal defe... OMIM:619170
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, ... ORPHA:329918
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Hyp... OMIM:235200
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Jeune Syndrome
Cone-shaped epiphysis, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Sho... ORPHA:474
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Hyperkalemia, Elevat... ORPHA:340
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Increased serum lactate, Episodic vomiting, Tubuloint... ORPHA:255249
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Diarrhea, Vomiting, Elevated circulating crea... ORPHA:85450
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... ORPHA:2928
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Hepatomegaly, Hyperornithinemia, Hyperammonemia, Episodic vomiting, Abnormal circ... ORPHA:415
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Rhabdoid Tumor
Hypertension, Hypercalcemia, Hematuria, Internal hemorrhage ORPHA:69077
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cerebral hemorrhage, Acute kidney injury, Proteinur... OMIM:618886
Frasier Syndrome
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Focal segmental glomerulosclero... ORPHA:347
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Elevated circulating C-rea... OMIM:614034
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hyperammonemia, Vomiting, Endocardial fibroelastosis, Decreased plasma carnitine, H... OMIM:212140
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:220
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Oliguria, Urinary hesita... ORPHA:976
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... OMIM:232220
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... ORPHA:136
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Congestive heart failure, Myocardial infarction, Dilated cardiomyopathy... OMIM:208000
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage, Splenomegaly OMIM:133100
Pseudoxanthoma Elasticum
Angina pectoris, Mitral stenosis, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Hypertension, Pulmona... OMIM:608406
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... ORPHA:276621
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly, Hypertension, Cardiomyo... ORPHA:90970
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... OMIM:145981
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Hypernatriuria, Decreased circulating cortisol level OMIM:103230
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... ORPHA:251992
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Cong... OMIM:269920
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Hypergonadotropic hyp... ORPHA:280679
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension, Gastroesophageal reflux, Right ventricular hypertr... OMIM:613623
Stiff Skin Syndrome
Nephrolithiasis, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid concentration ORPHA:2833
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Hyponatremia ORPHA:79139
Thoracomelic Dysplasia
Abnormality of fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal m... ORPHA:1803
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... ORPHA:189439
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Micropenis, Tachycardia, Ventricular septal defect, Hypertension OMIM:613870
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hypertension ORPHA:363400
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Hypertension, Pericard... ORPHA:767
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Cerebral hemorrhage, Pheochromocytoma,... OMIM:171300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Stevens-Johnson Syndrome
Dysuria, Sudden cardiac death, Abnormality of the urethra, Hypokalemic metabolic alkalosis, Diarr... ORPHA:36426
Autosomal Recessive Polycystic Kidney Disease
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... ORPHA:731
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Metabolic acidosis, Abnormal myoc... ORPHA:228308
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... OMIM:178600
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Exocrine pancreatic insufficienc... OMIM:619991
Mccune-Albright Syndrome
Renal phosphate wasting, Increased serum testosterone level, Renal tubular dysfunction, Precociou... ORPHA:562
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... OMIM:300257
Porphyria
Abnormal urinary color, Constipation, Diarrhea, Abnormal circulating porphyrin concentration, Hyp... ORPHA:738
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... OMIM:219080
African Iron Overload
Increased circulating ferritin concentration, Increased circulating cortisol level, Abnormal thyr... ORPHA:139507
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Sudden cardiac ... OMIM:201475
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Constipation, Tachycardia, Elevated urinary delta-aminolevulinic acid, ... OMIM:176000
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Autoimmune Polyendocrinopathy Type 1