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Gene: Scnn1b MGI:104696

Gene Summary

Name:

sodium channel, nonvoltage-gated 1 beta

Synonyms:

ENaC beta

Order Alleles

IMPC Data Collections

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	Allele	Zyg	Life Stage	P Value
increased circulating fructosamine level	Scnn1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.06×10^-05
abnormal pelvic girdle bone morphology	Scnn1b^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.26×10^-05
preweaning lethality, complete penetrance	Scnn1b^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Aorta	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	50% (1 of 2)
Heart	Wholemount images	heterozygote	50% (1 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	50% (1 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	Not available
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	Not available
Forebrain	N/A	homozygote	Not available
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	Not available
Hindbrain	N/A	homozygote	Not available
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	Not available
Midbrain	N/A	homozygote	Not available
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

Adult LacZ

LacZ Images Wholemount

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

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.

Human diseases associated with Scnn1b (6 diseases)
Human diseases predicted to be associated with Scnn1b (699 diseases)

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

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

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

Disease	Matching phenotypes	Source
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost...	OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati...	OMIM:610600
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:404
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens...	ORPHA:251274
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper...	OMIM:614736
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Nephropathy, Arr...	ORPHA:526
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556037
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Liddle Syndrome 1	Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldo...	OMIM:177200
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr...	OMIM:203400
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Liddle Syndrome 2	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618114
Liddle Syndrome 3	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:618126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h...	ORPHA:231625
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni...	ORPHA:556030
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Metabolic alkalosis, Nephrolithiasis, Biventricular hypertrophy, Hyper...	OMIM:615474
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-...	ORPHA:231580
Ectopic Aldosterone-Producing Tumor	Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231632
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Metabolic alk...	ORPHA:369929
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre...	OMIM:241150
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Secretory diarrhea, ...	OMIM:214700
Apparent Mineralocorticoid Excess	Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:218030
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Diarrhea, C...	ORPHA:31824
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula...	OMIM:613677
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro...	ORPHA:320
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Diarrhea,...	ORPHA:427
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo...	OMIM:300539
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis...	OMIM:615962
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting	OMIM:613743
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular...	OMIM:602722
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Hip dysplasia, Acetabular dysplasia, Genu valgum, Coxa valga	OMIM:613618
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction	OMIM:608320
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemic alkalosis, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome	OMIM:202110
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased...	OMIM:612780
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hepatosplenomegaly, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal ...	OMIM:611590
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le...	OMIM:615751
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci...	ORPHA:90791
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra...	OMIM:613095
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Hereditary Coproporphyria	Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Glomerulopathy With Fibronectin Deposits 1	Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Hyperten...	OMIM:137950
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi...	OMIM:142669
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Pyloric Stenosis, Infantile Hypertrophic, 1	Projectile vomiting, Hypochloremic metabolic alkalosis	OMIM:179010
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Alkalosis, Nephrolithiasis, Hypertension, Hy...	OMIM:219090
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarction, Renal salt wasti...	ORPHA:95409
Polycystic Kidney Disease 7	Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease	OMIM:620056
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol...	ORPHA:1146
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b...	ORPHA:223
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa...	OMIM:241200
Microvillus Inclusion Disease	Diarrhea, Hypovolemia, Metabolic acidosis, Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated...	OMIM:602088
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism	OMIM:617027
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr...	OMIM:201810
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentra...	ORPHA:173
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, ...	OMIM:263800
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Hyperkalemic Periodic Paralysis	Hyponatremia, Death in infancy, Death in early adulthood, Elevated circulating creatine kinase co...	ORPHA:682
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph...	ORPHA:213
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury, Episodic vomiting, Nausea	ORPHA:330021
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ...	OMIM:145600
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95513
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I...	ORPHA:786
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Lactic acidosis, Abn...	OMIM:540000
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ...	ORPHA:199299
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Hypokalemic Periodic Paralysis	Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ...	ORPHA:681
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ...	ORPHA:90790
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomi...	OMIM:237300
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar...	ORPHA:85138
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Diarrhea, Hypertension, Increased urinary porphobilinoge...	OMIM:121300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constipation, Type II d...	ORPHA:225
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d...	ORPHA:1667
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Hypernatremia, Failure to thrive, Diabetes insipidus	OMIM:304800
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple...	ORPHA:79644
Citrullinemia Type I	Respiratory alkalosis, Hyperammonemia, Gastroesophageal reflux, Vomiting, Elevated plasma citrulline	ORPHA:247525
Trimethylaminuria	Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria	OMIM:602079
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Patent urachus, Death in childhood, Failure to thrive	OMIM:618252
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In...	ORPHA:100924
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acido...	OMIM:614096
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stim...	OMIM:618183
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom...	OMIM:601894
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Bicarbonate-wasting renal tubular acidosis, Hypovolemia, Bicarbonatu...	ORPHA:47159
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Diarrhea, Primary ...	ORPHA:275761
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hy...	ORPHA:90041
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia	OMIM:175500
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Vomiti...	ORPHA:466677
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokal...	OMIM:617913
Nail-Patella-Like Renal Disease	Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:91355
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia	OMIM:608688
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Chronic acidosis, Hypercal...	OMIM:227810
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Acute kidney injury	ORPHA:449285
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub...	ORPHA:411629
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Failure to thrive	OMIM:620157
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati...	ORPHA:31825
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis	OMIM:613944
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:620366
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Citrullinemia, Classic	Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica...	OMIM:215700
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys...	ORPHA:699
Ovarian Hyperstimulation Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypovolemia, Capillary lea...	ORPHA:64739
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Iga Nephropathy, Susceptibility To, 3	Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease	OMIM:616818
Combined Oxidative Phosphorylation Deficiency 24	Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul...	OMIM:616239
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Hype...	ORPHA:79276
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia	ORPHA:57
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Diarrhea, Peritonitis, Elevated circulating creatini...	ORPHA:90038
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Alg8-Cdg	Hyponatremia, Failure to thrive, Small for gestational age	ORPHA:79325
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Decreas...	ORPHA:18
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Nephropathy, Arrhyt...	ORPHA:85447
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin...	ORPHA:769
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha...	OMIM:618913
Preeclampsia	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Elevated dias...	ORPHA:275555
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Hypoalbu...	ORPHA:84090
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Hematuria, Pancreatitis	ORPHA:549
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype...	ORPHA:91347
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Helix Syndrome	Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis,...	OMIM:617671
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Bloody diarrhea, Lactic acidosis, Vomiting, H...	ORPHA:99826
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Leprechaunism	Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem...	ORPHA:508
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Increased serum ...	OMIM:619051
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension	ORPHA:79084
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Argininosuccinic Aciduria	Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica...	OMIM:207900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Lactic acidosis, Perimembranous ventricular septal defect, Atrial sept...	OMIM:620135
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Cardiomyopathy, Hypertension, Hyperuricemia, Arrhythmia	ORPHA:3222
Vipoma	Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon...	ORPHA:97282
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis	OMIM:161950
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu...	OMIM:619573
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c...	OMIM:311250
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Increased serum lactate, Hyperammonemia, Lactic acidosis, Met...	OMIM:614702
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter	OMIM:231690
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic aci...	OMIM:618528
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, C...	ORPHA:31826
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age	ORPHA:391673
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism	ORPHA:88643
Infant Botulism	Hyponatremia, Xerostomia	ORPHA:178478
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Obesity	OMIM:620155
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Death in infancy, Hypokalemia, Death in childhood, Failure to thrive	OMIM:618426
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat...	ORPHA:1349
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Acute kidney injury, Diarrhea, Alkalosis, Hyperammonemia, Int...	ORPHA:90062
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u...	ORPHA:94080
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,...	ORPHA:2639
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Whipple Disease	Hyponatremia, Hypothyroidism, Cachexia	ORPHA:3452
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Hypokalemia, Hypoalbuminemia	OMIM:174900
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Hyperhidrosis, Hypo...	ORPHA:1764
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Myoglobinuria, Cardiomyocyte mitochondrial proliferation, V...	ORPHA:423
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Elevated circulating creatinine concentration, Abnorm...	OMIM:616733
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Hepatomegaly, Cardiomegaly, Increased serum lactate, Hyperprolinemia, Pulmonary ...	OMIM:619064
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Increased serum lactate, Lactic acidosis, Metabolic ...	OMIM:617021
Ochoa Syndrome	Renal insufficiency, Urinary incontinence, Bowel incontinence, Urethral obstruction, Hypertension...	ORPHA:2704
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Proteinuria, Hypertension, Nephrotic syndrome, Type I diabetes ...	ORPHA:1192
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood...	ORPHA:810
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P...	OMIM:170390
Idiopathic Non-Lupus Full-House Nephropathy	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating...	ORPHA:567544
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hypertension	OMIM:608600
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Blue Diaper Syndrome	Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Metaboli...	ORPHA:94086
Andersen-Tawil Syndrome	Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia	ORPHA:37553
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Hypoalbuminemia, Hypocho...	ORPHA:79324
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p...	ORPHA:57777
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Increased serum lactate, Hyperprolinemia, Perimembranous ventricular septal defect,...	OMIM:619170
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration	OMIM:615508
Osteootohepatoenteric Syndrome	Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bil...	OMIM:619377
Potocki-Shaffer Syndrome	Hypertension, Micropenis, Hypothyroidism, Delayed puberty	ORPHA:52022
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Tako-Tsubo Cardiomyopathy	Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula...	ORPHA:66529
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diabetes mellitus, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Acut...	ORPHA:544482
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:429
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia	OMIM:615750
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 41	Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce...	OMIM:618838
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morphology, ...	ORPHA:99885
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney...	OMIM:173900
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi...	OMIM:615980
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology	ORPHA:1508
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca...	ORPHA:968
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Increased serum lactate, Ketoacidosis, Diarrhea, Hyperammonemia, Metabol...	ORPHA:134
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Hyperammonemi...	OMIM:610505
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Episodic ...	ORPHA:415
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Nephrolithiasis,...	OMIM:232200
Léri-Weill Dyschondrosteosis	Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ...	ORPHA:240
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Lactic acidosi...	OMIM:232240
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology	ORPHA:1506
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati...	ORPHA:329918
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,...	ORPHA:3008
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Gastroesophageal reflux, V...	ORPHA:85450
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge...	OMIM:235200
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy...	OMIM:601005
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ...	ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, I...	OMIM:617713
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Secretory diarrhea, Vomiting	OMIM:616069
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end...	OMIM:144750
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I...	ORPHA:136
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp...	OMIM:618886
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff...	OMIM:614034
Rhabdoid Tumor	Hematuria, Hypertension, Hypercalcemia, Internal hemorrhage	ORPHA:69077
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Sinus tachycardia, Hypercalcemia, ...	ORPHA:276621
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Jeune Syndrome	Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab...	ORPHA:474
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Frasier Syndrome	Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula...	ORPHA:347
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Myoca...	ORPHA:36426
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Hyperlipidemia, Ne...	OMIM:232220
Denys-Drash Syndrome	Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:220
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o...	ORPHA:2928
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit...	ORPHA:976
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr...	ORPHA:251992
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Erythrocytosis, Familial, 1	Splenomegaly, Cerebral hemorrhage, Hypertension, Myocardial infarction	OMIM:133100
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Nephronophthisis 18	Hypertension, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:615862
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Stiff Skin Syndrome	Nephrolithiasis, Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus	ORPHA:2833
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Porphyria, Acute Intermittent	Tachycardia, Urinary incontinence, Dysuria, Diarrhea, Paralytic ileus, Hypertension, Constipation...	OMIM:176000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis	OMIM:613870
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension	ORPHA:363400
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Dietary Iron Overload Disease	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:139507
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Japanese Encephalitis	Hyponatremia, Inappropriate antidiuretic hormone secretion	ORPHA:79139
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev...	OMIM:615830
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Mccune-Albright Syndrome	Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho...	ORPHA:562
Sneddon Syndrome	Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke	OMIM:182410
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Liver Disease, Severe Congenital	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro...	OMIM:619991
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat...	OMIM:174000
Central Hypoventilation Syndrome, Congenital, 3	Chronic constipation, Episodic hypertension, Episodic vomiting	OMIM:619483
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy...	ORPHA:1803
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r...	ORPHA:79083
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hsd10 Disease, Infantile Type	Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Dysph...	ORPHA:391428
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, S...	ORPHA:29072
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis wi...	ORPHA:525731
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ...	ORPHA:731
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated uri...	ORPHA:3299
Riboflavin Transporter Deficiency	Hypertension, Hypogonadism, Diabetes insipidus, Dysphagia	ORPHA:97229
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Alstrom Syndrome	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy...	OMIM:203800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Sinus tachycardia, Elevated circulating creatine kina...	ORPHA:466650
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir...	OMIM:256050
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,...	ORPHA:465508
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea...	ORPHA:93101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Gastroparesis, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertensio...	OMIM:614052
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Decreased glomerular filtration rate, Chronic kidney disease, Elevated circu...	ORPHA:730
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci...	OMIM:104200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc...	OMIM:235400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Diarrhea, Elevated circulating creatinine concentration, Hy...	OMIM:223900
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Abnorm...	ORPHA:206572
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal ...	ORPHA:183
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Hype...	ORPHA:251004
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,...	ORPHA:324
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Nephronophthisis 1	Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys...	OMIM:256100
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom...	OMIM:266500
Acquired Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuli...	ORPHA:79086
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Portal hypertension, Pericardial ef...	OMIM:619487
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri...	OMIM:252920
Ppoma	Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan...	ORPHA:97278
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Serotonin Syndrome	Tachycardia, Diarrhea, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury, Nausea	ORPHA:43116
Somatostatinoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97283
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting,...	OMIM:608836
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Total an...	ORPHA:494424
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E...	ORPHA:247691
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Bowel incontinence, Maternal diabetes, Ectopic kidney,...	ORPHA:3027
Postorgasmic Illness Syndrome	Hypertension, Xerostomia, Palpitations	ORPHA:279947
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Seckel Syndrome 10	Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevat...	OMIM:617253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Lactic acidosis, Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Tubuloint...	ORPHA:79259
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull...	OMIM:216360
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec...	OMIM:614921
Grfoma	Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma...	ORPHA:97261
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp...	OMIM:230800
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist...	OMIM:123000
Posterior Urethral Valve	Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St...	ORPHA:93110
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Proteinuria, Minimal change glomeru...	ORPHA:1830
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Bilat...	ORPHA:2260
Congenital Toxoplasmosis	Hepatomegaly, Diarrhea, Cardiomegaly	ORPHA:858
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Increased serum lactate, Abnormal circulating ceruloplasmi...	OMIM:620306
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones	OMIM:607634
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno...	OMIM:256550
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Nephrotic syndrome, Hypoplasia o...	ORPHA:110
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro...	OMIM:203780
Renal Dysplasia	Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon...	ORPHA:93108
Lead Poisoning	Decreased HDL cholesterol concentration, Chronic kidney disease, Increased LDL cholesterol concen...	ORPHA:330015
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri...	ORPHA:371428
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Constipation, Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca...	ORPHA:97287
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, Vomiting	ORPHA:2169
Glucagonoma	Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ...	ORPHA:97280
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepato...	ORPHA:99931
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension	OMIM:603903
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u...	OMIM:256700
Hartsfield Syndrome	Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus	OMIM:615465
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran...	ORPHA:268
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ...	ORPHA:220393
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Schimke Immunoosseous Dysplasia	Renal insufficiency, Transient ischemic attack, Proteinuria, Elevated circulating thyroid-stimula...	OMIM:242900
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Diarrhea, Hypertension, Adrenocortical adenoma, Pheochr...	ORPHA:139411
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Gastroesophageal reflux,...	ORPHA:449291
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le...	OMIM:215600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Nephroblastoma	Hematuria, Hypertension	ORPHA:654
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Abnormality of the ureter, H...	ORPHA:52
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ...	OMIM:619758
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus	OMIM:184850
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon...	ORPHA:249
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Intestinal obstruction, Recurrent intrapulmonary hemor...	ORPHA:900
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Increased serum lactate, Shortened PR ...	OMIM:614947
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Pancr...	ORPHA:892
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst	OMIM:614424
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Osteopetrosis, Autosomal Dominant 2	Fractures of the long bones, Abnormal pelvic girdle bone morphology	OMIM:166600
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant di...	OMIM:151660
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu...	ORPHA:79126
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction, Delayed puberty	OMIM:208060
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Or...	OMIM:105210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic attack, Hypospadi...	ORPHA:286
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Splenomegaly, Chronic diarrhea, C...	ORPHA:93473
Senior-Boichis Syndrome	Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, He...	ORPHA:84081
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Renal Hypodysplasia/Aplasia 1	Hypertension, Proteinuria	OMIM:191830
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertensio...	OMIM:301050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec...	ORPHA:447
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Prader-Willi Syndrome	Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio...	ORPHA:739
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepa...	OMIM:268800
Fragile X-Associated Tremor/Ataxia Syndrome	Bowel incontinence, Hypertension, Pollakisuria, Hypotension, Dysphagia, Urinary bladder sphincter...	ORPHA:93256
Alport Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro...	ORPHA:63
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence, Dysphagia	ORPHA:75567
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Abnormal shoulder morphology, Abnormal pelvic girdle bone mor...	ORPHA:1422
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Diarrhea, Hypertension, Increased blood urea nitr...	ORPHA:90321
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Pericardial effusion, Splenomegaly, Hematemesis, Diarrhea, Vasc...	OMIM:615846
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hypertension, Hypogo...	ORPHA:902
Hardikar Syndrome	Hepatomegaly, Decreased serum insulin-like growth factor 1, Renal insufficiency, Ventricular sept...	OMIM:301068
Poliomyelitis	Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea	ORPHA:2912
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Diabetes mellitus, Hypertension	ORPHA:69663
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ...	OMIM:614008
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Nephronophthisis-Like Nephropathy 1	Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613159
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke...	ORPHA:542643
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Increased serum lactate, Aortic va...	OMIM:220111
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Gastroesophageal reflux...	OMIM:614653
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon...	ORPHA:48435
Alexander Disease	Diabetes mellitus, Bowel incontinence, Sudden cardiac death, Precocious puberty, Hypertension, Co...	ORPHA:58
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Spondyloenchondrodysplasia	Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculiti...	ORPHA:1855
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Abnor...	ORPHA:391665
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic...	OMIM:617729
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:619381
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis	OMIM:613834
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud...	OMIM:615688
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism, Transient hyperphenylalaninemia	ORPHA:98808
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo...	OMIM:194080
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly	OMIM:619259
Abetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, Ch...	ORPHA:14
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenos...	OMIM:208050
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
Acute Transverse Myelitis	Orthostatic hypotension, Gastroparesis, Decreased circulating copper concentration, Subarachnoid ...	ORPHA:139417
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism, Left ventricular h...	OMIM:209900
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren...	OMIM:243910
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Smith-Lemli-Opitz Syndrome	Renal cyst, Vomiting, Gastroesophageal reflux, Hypoalbuminemia, Hypocholesterolemia, Atrial septa...	OMIM:270400
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Hypertension, Abnormal ca...	ORPHA:2588
Tuberous Sclerosis Complex	Renal insufficiency, Pancreatic endocrine tumor, Pituitary adenoma, Chronic kidney disease, Parat...	ORPHA:805
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflu...	OMIM:194050
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i...	ORPHA:217085
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Chronic constipation, Inapp...	ORPHA:79330
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Bowe...	ORPHA:365
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i...	ORPHA:217093
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly	ORPHA:158687
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Car...	ORPHA:51608
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Mitral valve prolapse	OMIM:616914
Wagro Syndrome	Hypertension, Proteinuria	OMIM:612469
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Von Hippel-Lindau Syndrome	Hypertension, Multiple renal cysts, Pheochromocytoma, Paraganglioma	OMIM:193300
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end...	ORPHA:99889
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop...	ORPHA:1112
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Gastroesophageal reflux, Hypocalcemia, Vesicoureteral reflux, Atrial se...	ORPHA:567
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Pyelonephritis, Hypertension, Duplication of renal pelvis, Type I diabetes ...	ORPHA:2036
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin ...	ORPHA:79474
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, U...	ORPHA:191
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Hyperbilirubinemia, At...	OMIM:613610
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi...	OMIM:611962
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper...	OMIM:130650
Au-Kline Syndrome	Chronic kidney disease, Hypertension, Constipation, Gastroesophageal reflux, Vesicoureteral reflu...	OMIM:616580
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:963
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Diarrhea, Hypertension, Pulmonary arteri...	OMIM:606721
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula...	OMIM:300855
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomega...	OMIM:252500
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h...	OMIM:181270
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Atrioventricular bl...	ORPHA:581
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hypospadias	OMIM:123790
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal...	OMIM:266920
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,...	OMIM:602535
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Thymic ho...	OMIM:216400
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:314769
Apert Syndrome	Hypertension	ORPHA:87
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Hyp...	OMIM:609049
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct...	ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Gastroesophageal reflux, Atrial septal defect, ...	OMIM:300896
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia	OMIM:608013
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:311200
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ...	ORPHA:3472
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmia	OMIM:133540
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis, Exo...	ORPHA:2750
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Ureteral duplication, Elevated circulating alpha-fetopro...	ORPHA:116
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Hype...	OMIM:210710
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Constipation, Cardiomegaly	OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Pineal cy...	OMIM:300967
Blau Syndrome	Pericarditis, Splenomegaly, Nephropathy, Xerostomia, Stage 5 chronic kidney disease, Large vessel...	ORPHA:90340
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ...	ORPHA:97685
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria	OMIM:230000
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve...	OMIM:139210
Neuroendocrine Neoplasm Of Appendix	Primary hypercortisolism, Intestinal carcinoid, Increased serum serotonin, Adrenocorticotropic ho...	ORPHA:100079
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Vomiting, Bradycardia	ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Diarrhea, Hepatosplenomegaly, Unconjugated h...	OMIM:618278
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Neurofibromatosis, Type I	Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis	OMIM:162200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic...	ORPHA:51
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Neurofibromatosis Type 1	Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromocytoma, Delayed ...	ORPHA:636
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Hypertension, Atrial septal...	OMIM:308205
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Bronchiectasis With Or Without Elevated Sweat Chloride 1		OMIM:211400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scnn1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scnn1b.

No publications found that use IMPC mice or data for Scnn1b.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Scnn1b^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Scnn1b^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Scnn1b^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Scnn1b MGI:104696

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

X-ray

X-ray

MicroCT E14.5-E15.5

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Scnn1b mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data