Gene: Nedd4l MGI:1933754

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Gene Summary

Name:
neural precursor cell expressed, developmentally down-regulated gene 4-like
Synonyms:
1300012C07Rik,  Nedd4-2,  Nedd4b

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Nedd4ltm1b(KOMP)Wtsi HOM Early adult 3.82×10-10
preweaning lethality, incomplete penetrance Nedd4ltm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased startle reflex Nedd4ltm1b(KOMP)Wtsi HOM Early adult 3.63×10-05
abnormal retina morphology Nedd4ltm1b(KOMP)Wtsi HOM Early adult 6.05×10-11
abnormal auditory brainstem response Nedd4ltm1b(KOMP)Wtsi HOM   Early adult 3.57×10-08
abnormal startle reflex Nedd4ltm1b(KOMP)Wtsi HOM Early adult 7.45×10-13

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung 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)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
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)
Pituitary gland 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)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
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
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Auditory Brain Stem Response

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

5 Images

Human diseases caused by Nedd4l mutations

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

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

The table below shows human diseases associated to Nedd4l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Periventricular Nodular Heterotopia 7
Hearing impairment, Optic atrophy OMIM:617201
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Gastroesophageal reflux, Aortic regurgitation ORPHA:98892

The table below shows human diseases predicted to be associated to Nedd4l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Senior-Loken Syndrome 4
Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypertension, Hyperaldosteronism, Hypercalciuria, Decreased circulating ren... OMIM:613677
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Polyuria, Hydronephrosis OMIM:304900
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Renal salt wasting, Hyperaldoste... OMIM:264350
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Polydipsia, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive ... ORPHA:251274
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Polydipsia, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hyperte... ORPHA:403
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia OMIM:222100
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Hypertension, Decreased circulating renin ... OMIM:103900
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Primary Unilateral Adrenal Hyperplasia
Palpitations, Polydipsia, Nausea, Epistaxis, Hypertension, Increased urinary potassium, Glucocort... ORPHA:231580
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Polydipsia, Nausea, ... ORPHA:369929
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Liddle Syndrome
Arrhythmia, Constipation, Nephropathy, Hypertension, Hypokalemia, Cerebral ischemia, Renal insuff... ORPHA:526
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hypertension, Gluco... ORPHA:404
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Plasmacytosis, Nodular pattern on pulmonary HRCT ORPHA:60026
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Constipat... ORPHA:223
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Hypertension, Glomerulopathy, Microscopic hematuria, Stage 5... OMIM:137950
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Palpitations, Increased urinary cortisol level, Abnormal circul... ORPHA:1501
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Congenital Pulmonary Veins Atresia Or Stenosis
Abnormal cardiac septum morphology, Hypertension ORPHA:3188
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Myocardial ... ORPHA:54370
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Nephrogenic diabetes insipidus, Hypernatremia, Constipation, Polyuria, Vomiting, Poly... OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Hypernatremia, Constipation, Polyuria, Vomiting, Diabetes insipidus, Polydipsia OMIM:304800
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated cir... ORPHA:94093
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Renal salt wasting, Increased circulating renin level, Decreased circu... OMIM:203400
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Cyanosis And Hepatic Disease
Hepatitis, Cyanosis, Dyspnea OMIM:219400
Apparent Mineralocorticoid Excess
Renal insufficiency, Polydipsia, Hypertension, Abnormality of circulating cortisol level, Decreas... ORPHA:320
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Renal salt was... OMIM:610600
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Ectopic Aldosterone-Producing Tumor
Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased... ORPHA:231632
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Otitis media, Atelectasis OMIM:300455
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Constipation, Abnormal circulating lipid concentration, Hypertension, Gl... ORPHA:225
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Hypertension, Proteinuria ORPHA:2820
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
Trimethylaminuria
Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... OMIM:603278
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Recurrent urinary tract infections,... OMIM:248250
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
East Syndrome
Enuresis, Increased circulating renin level, Renal salt wasting, Hyperaldosteronism, Renal sodium... ORPHA:199343
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary h... ORPHA:171876
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Constipation, Polyur... OMIM:263800
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension OMIM:605635
Snakebite Envenomation
Cardiogenic shock, Pseudobulbar paralysis, Acute kidney injury, Intracranial hemorrhage, Hypotens... ORPHA:449285
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin level, Re... OMIM:612780
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Hyponatremia, Decreased circulating renin level... OMIM:300539
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Hypercalcemia, Infantile, 1
Polyuria, Pulmonic stenosis, Aortic valve stenosis, Hypercalciuria, Vomiting, Infantile hypercalc... OMIM:143880
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hepatomegaly, Hyperalaninemia, Congesti... OMIM:619048
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614495
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Coproporphyria, Hereditary
Constipation, Hypertension, Hepatomegaly, Tachycardia, Diarrhea, Splenomegaly, Vomiting, Increase... OMIM:121300
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Type II diabetes mellitus ORPHA:71529
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Situs inversus totalis, Enlarged kidney, ... OMIM:602088
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Nephroca... OMIM:614473
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Subcutaneou... ORPHA:238459
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Abnormal glomer... ORPHA:567544
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Pericardial effusion, Abnorm... ORPHA:358
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria OMIM:189800
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart... OMIM:615703
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Constipation, Third degree atrioventricular block, Diarrhea, Dilated ... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase concentration, Hype... OMIM:145600
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Diarrhea, Vomiting, Renal insufficiency, Nephrolithiasis ORPHA:35710
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Vomiting, Prolonged QTc interval, Syncop... ORPHA:66529
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Nausea, ... ORPHA:31824
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia OMIM:616949
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:614496
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Abnormal renal resorption, Pericardial effusion, Hypocalcem... ORPHA:73224
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Hypertension, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Preeclampsia
Acute kidney injury, Elevated systolic blood pressure, Elevated circulating creatinine concentrat... ORPHA:275555
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... ORPHA:976
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hyperuricemia, Hypertension, Renal insufficiency, Cardiomyopathy ORPHA:3222
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Lcat Deficiency
Hematuria, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficiency, P... ORPHA:650
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Proteinu... ORPHA:330001
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Adrenal hypoplasia, Hypotension, Decreased c... ORPHA:199296
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Renal amyloidosis, Proteinuria, Abnormal car... ORPHA:439232
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pulmonary arterial hypertension, Hyperuricemia, Polyuria, Renal salt wasting, Chron... OMIM:613845
Hereditary Coproporphyria
Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Nephropathy, Nausea, Tachyc... ORPHA:79273
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:241200
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin... ORPHA:361
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension OMIM:618681
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Cardiomegaly, Prolonged QT interval, Pat... OMIM:601005
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Webb-Dattani Syndrome
Neurogenic bladder, Hypernatremia, Gastroesophageal reflux, Pituitary hypothyroidism, Vesicourete... OMIM:615926
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Hypertension OMIM:613877
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Liddle Syndrome 1
Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l... OMIM:177200
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Cystinosis
Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Hypothyroidism, Aminoacidu... ORPHA:213
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Hyponatremia, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone... ORPHA:91354
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Neutropenia, Pneumonia, Abnormal tracheobronchial morphology, S... ORPHA:1163
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Histiocytosis, Familial Lipochrome
Histiocytosis, Pulmonary infiltrates OMIM:235900
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Infant Botulism
Hypotension, Dysphagia, Constipation, Hyponatremia, Hypertension, Bowel incontinence, Xerostomia,... ORPHA:178478
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Helix Syndrome
Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis OMIM:617671
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Constipation, Polyuria, Aminoaciduria, Hepatomegaly, Calcino... OMIM:239200
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia OMIM:131400
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... ORPHA:329918
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Elevated urinary norepinephrine, Pheochromocytoma, Episodic hype... OMIM:171420
Bardet-Biedl Syndrome 16
Recurrent otitis media, Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Dysphagia, Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Orga... OMIM:255100
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Tetanus
Elevated urinary norepinephrine, Dysphagia, Hypertension, Elevated urinary epinephrine, Bowel inc... ORPHA:3299
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Hepatom... OMIM:212138
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Hypokalemia, Diarrhea, Hy... OMIM:214700
Acute Adrenal Insufficiency
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Diarrhea,... ORPHA:95409
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Dysphagia, Achalasia, Hypertension, Raynaud phenomenon OMIM:615750
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Transient pulmonary infilt... OMIM:178550
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Hyperphosphatemia, Polyuria, And Seizures
Diarrhea, Vomiting, Polyuria, Hyperphosphatemia OMIM:239350
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Denys-Drash Syndrome
Nephropathy, Hypertension, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
Immunodeficiency 62
Bronchiectasis OMIM:618459
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Increased level of L-fucose in urine, Increased le... OMIM:215600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Death in childhood, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Constipation, Elevated circulating thyroid-stimulating hormone co... ORPHA:95717
Central Diabetes Insipidus
Nocturia, Polydipsia ORPHA:178029
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Pulmonic stenosis, Ventricular septal defect OMIM:615508
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Orthostat... ORPHA:95513
Gaucher Disease Type 2
Respiratory distress, Cough, Splenomegaly, Abnormal pattern of respiration, Recurrent respiratory... ORPHA:77260
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Decreas... OMIM:615474
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Hyponatremia, Abn... ORPHA:173
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Increased circulating androstenedione ... ORPHA:90791
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial arrhythmia,... OMIM:615745
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Constipation, Elevat... ORPHA:95716
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Elevated circulating creatinine concentration, Recurrent urinary tract in... OMIM:613095
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Dilated cardiomyopathy, Hypospadias, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Non-Functioning Paraganglioma
Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma... ORPHA:94080
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Hypertens... OMIM:618913
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:218030
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hypertension, Diarrhea, Vomiting, Hyperthyroidism OMIM:231690
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Immunodeficiency 50
Eczema, Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Alveolar cell carcinoma, Pulmonary fibrosis, Cough, Elevated broncho... OMIM:178500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic isl... ORPHA:276575
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Acute Intermittent Porphyria
Dysuria, Pseudobulbar paralysis, Constipation, Dark urine, Hyponatremia, Elevated urinary delta-a... ORPHA:79276
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Recurrent pneumonia, Recurrent respirator... OMIM:613502
Porphyria Variegata
Neurogenic bladder, Constipation, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Nause... ORPHA:79473
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Primary Parathyroid Hyperplasia
Hypophosphatemia, Parathyroid hyperplasia, Shortened QT interval, Polydipsia, Dysphagia, Constipa... ORPHA:99878
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Hyperkal... ORPHA:57
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Splenomegaly, Pulmo... ORPHA:2414
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Avian Influenza
Cough, Pneumonia, Leukopenia, Ground-glass opacification, Respiratory distress, Thrombocytopenia,... ORPHA:454836
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Anomalous pulmonary venous return, ... ORPHA:244
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, B lymphocytopenia, Otitis media,... OMIM:601457
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Hypertension, Stage 5 chronic kidney disease ORPHA:3156
Legionnaires Disease
Arrhythmia, Hematuria, Pericarditis, Endocarditis, Hypotension, Hyponatremia, Splenomegaly, Diarr... ORPHA:549
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Congenital hypothyroidism, Hyperkalemia, Precocious puberty OMIM:614736
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Hyponatremia, Adrenal insufficiency, Vomiting, Hyperkalemia OMIM:240200
Cyanosis, Transient Neonatal
Reticulocytosis, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hypothyroidism, Pericardial effusion, Hyponatremia, Polyuria, Hypertr... OMIM:618183
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,... ORPHA:280356
Hyperkalemic Periodic Paralysis
Arrhythmia, Hyponatremia, Bowel incontinence, Hypokalemia, Congestive heart failure, Elevated cir... ORPHA:682
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hypertension, Hepatomegaly, Pancreatitis, Diabetes mellitus ORPHA:79084
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Elevated urinary dopamine, Increased circulating cortisol level, Elevated urinary n... OMIM:171400
Variegate Porphyria
Vomiting, Constipation, Tachycardia, Porphyrinuria OMIM:176200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Orthostat... ORPHA:95512
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Splenomegaly, Diffuse reticular or finel... OMIM:607616
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Necrotizing Enterocolitis
Peritonitis, Abnormal heart morphology, Hypotension, Hyponatremia, Diarrhea, Shock, Vomiting, Bra... ORPHA:391673
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperactive renin-angiot... ORPHA:89938
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... ORPHA:31826
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Polydipsia, Renal potassium ... ORPHA:18
Fabry Disease
Hypohidrosis, Arrhythmia, Angina pectoris, Urinary mulberry cells, Nausea, Hypertension, Lipiduri... OMIM:301500
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension... OMIM:123550
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Nephropathy, Hypertension, Proteinuria OMIM:166300
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Diarrhea,... ORPHA:85138
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia OMIM:615214
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Hypertension, Glomerulonephritis, Glo... OMIM:104200
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephropathy, Hypertension, Type I diabetes mellitus, Nephrotic ... ORPHA:1192
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Ep... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Dif... ORPHA:276580
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Elevated circulating creatinine conce... OMIM:174000
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:613501
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:208000
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898