Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ido1 MGI:96416

Gene Summary

Name:

indoleamine 2,3-dioxygenase 1

Synonyms:

Indo, Ido

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased blood urea nitrogen level		Ido1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	2.51×10^-08
increased circulating creatinine level		Ido1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	1.71×10^-25

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
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
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	Not available
Cerebral cortex	N/A	heterozygote	Not available
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)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
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)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	Not available
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 tissue	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	Not available
Testis	N/A	heterozygote	50% (1 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)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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%
blood vessel
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%
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%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
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%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Ido1^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Ido1^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 66 images

Ido1^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ido1 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 Ido1 (0 diseases)
Human diseases predicted to be associated with Ido1 (745 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ido1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ...	OMIM:301101
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria	ORPHA:2613
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros...	OMIM:161900
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Preeclampsia/Eclampsia 1	Proteinuria, Hypertension	OMIM:189800
Ciliary Dyskinesia, Primary, 50	Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ...	OMIM:620356
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m...	OMIM:620438
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru...	ORPHA:84090
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal insufficiency, Renal atrophy, Renal interstitial fibrosis, ...	OMIM:620056
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, ...	ORPHA:567544
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Denys-Drash Syndrome	Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension	ORPHA:220
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Frasier Syndrome	Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri...	ORPHA:347
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension	OMIM:105200
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Trimethylaminuria	Tachycardia, Trimethylaminuria, Hypertension	OMIM:602079
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication	ORPHA:147
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv...	ORPHA:439232
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia, Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Tachycardia, Increased urinary porphobilinogen, Porph...	OMIM:176200
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Micropenis, Hypospadias	OMIM:618815
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Bradycardia	OMIM:616277
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Papular Xanthoma	Histiocytosis	ORPHA:158008
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib...	ORPHA:52901
Frasier Syndrome	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Primary amenorrh...	OMIM:136680
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia, Increased urine succinate level	OMIM:619048
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoca...	ORPHA:182050
Cednik Syndrome	Proteinuria, Nephrotic syndrome, Hypogonadism, Congestive heart failure	ORPHA:66631
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Premature ventricular...	OMIM:212138
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocardial infarction	ORPHA:54057
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella	OMIM:620197
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement	OMIM:617006
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Lessel-Kubisch Syndrome	Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia	OMIM:618235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Hypogonadism, Arrhythmia, Bradycardia, Premature ovarian insufficiency	OMIM:609286
Renal Nutcracker Syndrome	Infertility, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Syncope, Dyspareunia, O...	ORPHA:71273
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Hypertension, Renal dysplasia	OMIM:191830
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibros...	OMIM:618913
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Tetanus	Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev...	ORPHA:3299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-...	OMIM:121300
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Acute Lung Injury	Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr...	ORPHA:178320
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Decreased activity of mitochondrial complex I, Macrocytic anemia,...	OMIM:615578
Anti-Glomerular Basement Membrane Disease	Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy	ORPHA:375
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Hypertension, Proteinuria	ORPHA:1192
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Arrhythmia, Impotence, Abnormal renal physio...	ORPHA:85447
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:276621
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria...	OMIM:610205
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Hypotension, Renal amyloidosis, Protein...	ORPHA:85445
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:616730
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Liddle Syndrome	Nephropathy, Cerebral ischemia, Renal insufficiency, Arrhythmia, Hypertension	ORPHA:526
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert...	OMIM:166300
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ...	ORPHA:859
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Myoglobinuria, Tachycardia	OMIM:145600
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo...	ORPHA:567548
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Failure to elevate ammonia on ischemic exercise	OMIM:232600
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s...	ORPHA:158061
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Timothy Syndrome	Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr...	OMIM:601005
Glycogen Storage Disease Iv	Portal hypertension, Tubulointerstitial fibrosis, Cardiomyopathy, Bradycardia	OMIM:232500
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo...	ORPHA:368
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion...	OMIM:277400
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Galactosemia I	Aminoaciduria, Galactosuria, Premature ovarian insufficiency, Increased level of galactitol in ur...	OMIM:230400
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:29072
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:540
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration, Chilblains	OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro...	OMIM:613101
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect...	OMIM:192315
Sheehan Syndrome	Palpitations, Decreased female libido, Amenorrhea, Oligomenorrhea, Hyposthenuria, Orthostatic hyp...	ORPHA:91355
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Stage 5 c...	OMIM:617575
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency	OMIM:245900
Lead Poisoning	Decreased male libido, Imbalanced hemoglobin synthesis, Abnormality of the menstrual cycle, Incre...	ORPHA:330015
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of...	OMIM:500013
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Hematuria, Proteinuria, Hypertension	OMIM:614034
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,...	ORPHA:85443
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Proteinuria, Glomerular sclerosi...	OMIM:607426
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Hypertrophic cardiomyopathy, Abnormality of the kidney	ORPHA:369
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal...	ORPHA:93126
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Proteinuria, Myoglobin...	ORPHA:94093
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Illum Syndrome	Bradycardia	OMIM:208155
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Barth Syndrome	Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Neutropenia...	OMIM:302060
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Bradycardia	OMIM:608800
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Myoglobinuria...	OMIM:620300
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Pulmonary hemorrhage, Aortic regurgitation	OMIM:603585
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia	OMIM:617397
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Neuraminidase Deficiency	Proteinuria, Cardiomyopathy, Increased urinary O-linked sialopeptides, Urinary excretion of sialy...	OMIM:256550
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
D-Glyceric Aciduria	Aminoaciduria, Micropenis, Bradycardia	OMIM:220120
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Prote...	ORPHA:247691
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Hypertension, Cerebral hemorrhage	OMIM:618886
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Arrhythmia	ORPHA:57
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria	OMIM:231530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses...	OMIM:120330
Simple Cryoglobulinemia	Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Renal insufficiency...	ORPHA:91139
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Decreased circulating antibody level	OMIM:300635
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria	OMIM:618347
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis	ORPHA:85435
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Cardiomyopathy	ORPHA:119
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy	ORPHA:91138
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ren...	ORPHA:183
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri...	OMIM:613873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he...	ORPHA:1830
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Legionnaires Disease	Hypotension, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Myocarditis, Pericarditis	ORPHA:549
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Polycy...	OMIM:618061
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu...	ORPHA:567546
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,...	ORPHA:340
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Shock, Renal insufficiency, Bradycardia, Myocarditis, Subconjunctival hemo...	ORPHA:319213
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal tubular dysfunct...	ORPHA:436271
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine, Cardiomyopathy, Arrhythmia	ORPHA:228305
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Abnormal urinary color	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Sepsis In Premature Infants	Hypotension, Oliguria, Reversible renal failure, Bradycardia, Tachycardia	ORPHA:90051
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, A...	ORPHA:99845
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Crimean-Congo Hemorrhagic Fever	Hematuria, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperiton...	ORPHA:99827
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ...	ORPHA:213
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Fabry Disease	Nephropathy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundl...	ORPHA:324
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Membranoproliferative glomerulonephritis	OMIM:619858
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia	OMIM:618775
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Hypotension, Tubular basement membrane disi...	OMIM:174000
Necrotizing Enterocolitis	Shock, Hypotension, Bradycardia	ORPHA:391673
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting...	OMIM:248250
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Tachycardia, Renal Fanconi syndrome, Glycosuria	ORPHA:263455
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki...	ORPHA:261222
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria	OMIM:613404
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Intestinal bleeding, Right ventricular failure, Nail...	ORPHA:90291
Xfe Progeroid Syndrome	Proteinuria, Premature ovarian insufficiency, Renal insufficiency, Hypertension	OMIM:610965
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number	ORPHA:352447
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Torsade de pointes, Hypertrophic cardiomyopathy, Myoglobinuria, Ventricular tachycardi...	OMIM:616878
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Supraventricular tachycardia, High-output congestive heart failure, Prematur...	ORPHA:423
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal tubular dysfunct...	OMIM:220110
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Spider hemangioma, Decreased glomerular filtration rate, Rena...	OMIM:232240
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Transient ischemic attack, Stage 5 chronic kidney disease, Re...	OMIM:242900
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, T...	ORPHA:33001
Coccidioidomycosis	Pneumonia, Folliculitis, Granuloma, Abnormality of the male genitalia, Increased circulating IgM ...	ORPHA:228123
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,...	ORPHA:411634
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney...	OMIM:619487
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria	OMIM:616026
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Urinary hesitancy, Orchitis, He...	ORPHA:556
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Arrhythmia, Renal...	ORPHA:157
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E...	OMIM:201475
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy	OMIM:602541
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Arrhy...	ORPHA:228308
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Hypocomplementemic Urticarial Vasculitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Small vessel vasculitis	ORPHA:36412
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Impotence, Pulmonary embolism, Glycosuria, Budd-Chia...	ORPHA:447
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:609015
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein...	ORPHA:93552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis	OMIM:300519
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Decreased circ...	OMIM:615122
Gitelman Syndrome	Focal segmental glomerulosclerosis, Prolonged PR interval, Enuresis, Prominent U wave, Abnormal T...	ORPHA:358
Hydroxykynureninuria	Tachycardia, Hypotension, Renal tubular acidosis	ORPHA:79155
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Cerebral ischemia, Renal i...	ORPHA:900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Free Sialic Acid Storage Disease	Proteinuria, Nephrotic syndrome	ORPHA:834
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Interstitial Cystitis	Urinary bladder inflammation, Abnormality of tumor necrosis factor secretion	ORPHA:37202
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria	OMIM:301108
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Congestive heart failure, Hypertrophic cardiomyopa...	OMIM:617303
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele...	ORPHA:79404
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Dilated cardiomyopathy, Ca...	ORPHA:550
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina...	ORPHA:65681
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion in urine, Tricus...	ORPHA:505248
Porphyria, Acute Intermittent	Urinary retention, Hypertension, Urinary incontinence, Elevated urinary delta-aminolevulinic acid...	OMIM:176000
Hellp Syndrome	Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Cerebral hemorrhage, Hemoglob...	ORPHA:244242
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N...	OMIM:617729
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Cardiomyopathy, Premature ovarian insufficiency, Proteinuria, Renal cyst, N...	OMIM:212065
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Dilated cardiomyopathy, Abnormal left ventricular function	OMIM:607155
Agel Amyloidosis	Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotension due to auton...	ORPHA:85448
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperphosphaturia, Re...	OMIM:227810
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Heart murmur, Multiple bladder diverticula	ORPHA:2728
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Acquired Generalized Lipodystrophy	Proteinuria, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy	ORPHA:79086
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Mitochondrial swelling	OMIM:618250
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Wagro Syndrome	Proteinuria, Hypertension, Nephroblastoma	OMIM:612469
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Cardiomyopathy, Renal tubular acidosis, Dysmenorrhea, Myoglobinuria, Olig...	ORPHA:264580
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Spondyloenchondrodysplasia	Chronic kidney disease, Vasculitis, Hematuria, Proteinuria, Raynaud phenomenon, Hypertension	ORPHA:1855
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Arteritis, Urinary bladder inflammation, Urethritis,...	ORPHA:449395
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232220
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro...	OMIM:249100
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Orchitis, Proteinuria, Arrhythmia, Nephrotic syndrome,...	ORPHA:342
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Renal insufficiency, Capillary leak, Orchitis, In...	ORPHA:99826
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Orchitis, Hematuria, Proteinuria, G...	ORPHA:761
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter...	OMIM:301220
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number	ORPHA:263297
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Yellow Fever	Acute kidney injury, Anuria, Shock, Reduced left ventricular ejection fraction, Renal insufficien...	ORPHA:99829
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Imerslund-Gräsbeck Syndrome	Proteinuria, Tachycardia	ORPHA:35858
Postinfectious Vasculitis	Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Orchitis, Hematuria, Proteinuria, Glomerulo...	ORPHA:48435
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia	OMIM:617248
Pheochromocytoma/Paraganglioma Syndrome 4	Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level...	OMIM:115310
Papa Syndrome	Proteinuria	ORPHA:69126
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology	ORPHA:353
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Myoglobinuria, Prolon...	ORPHA:71212
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Epistaxis, Nephrocalcinosis, Stage 5 chronic kidney disease, Pulmonary ve...	ORPHA:79259
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Deficiency or absence of cytochrome b(-245), Splenomegaly, Granulomatos...	OMIM:233690
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Glycosuria, Low-molecular-weight pro...	OMIM:219800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Niemann-Pick Disease, Type A	Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Renal tubular acidosis, Dysmenorrhea, Myoglobinuria, Oligomenorrhea	ORPHA:79240
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube ...	ORPHA:722
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Fumarase Deficiency	Decreased fumarate hydratase activity, Polycythemia, Mitochondrial swelling	OMIM:606812
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Scorpion Envenomation	Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart...	ORPHA:466677
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis	OMIM:254450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Decreased activity of mitochondrial complex III, Abnormal mitochondrial shape, Decreased activity...	ORPHA:17
Bohring-Opitz Syndrome	Urinary retention, Nephroblastoma, Bradycardia	ORPHA:97297
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Ohdo Syndrome	Proteinuria	OMIM:249620
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Cardiomyopathy	ORPHA:206549
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Lymphatic Filariasis	Urethral obstruction, Orchitis, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the ki...	ORPHA:2035
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pulmonary insuff...	OMIM:208500
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Deficiency or absence of cytochrome b(-245), Splenomegaly, G...	OMIM:306400
Cockayne Syndrome A	Irregular menstruation, Hypogonadism, Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, H...	OMIM:216400
Majeed Syndrome	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:77297
Adult-Onset Still Disease	Proteinuria, Pericarditis, Myocarditis	ORPHA:829
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Bradycardia	ORPHA:226307
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Raynaud phenomenon, Hypertension, Pyuria	ORPHA:536
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Myoglobinuria, Ketonuria, 3-Methylglutaconic aciduria	OMIM:251900
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Cholecystitis	ORPHA:69665
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Panhypogammagl...	ORPHA:79124
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis...	OMIM:251300
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ...	ORPHA:99885
Kawasaki Disease	Vasculitis, Sterile pyuria, Congestive heart failure, Proteinuria, Arrhythmia, Myocarditis, Peric...	ORPHA:2331
Bardet-Biedl Syndrome 20	Proteinuria, Male hypogonadism, Micropenis	OMIM:619471
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Relapsing Polychondritis	Large vessel vasculitis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Myocarditis...	ORPHA:728
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Von Hippel-Lindau Syndrome	Epididymal cyst, Papillary cystadenoma of the epididymis, Polycythemia	OMIM:193300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio...	ORPHA:470
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Acute kidney injury, Oliguria, Anuria, Decreased urine output, Myocarditis, ...	ORPHA:544482
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension	OMIM:133540
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Pearson Syndrome	Glycosuria, Cardiomyopathy, Renal insufficiency, Cardiac conduction abnormality, Proteinuria, Ren...	ORPHA:699
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Autoimmune Lymphoproliferative Syndrome	Decreased circulating IgG level, Abnormal circulating interleukin concentration, Decreased specif...	ORPHA:3261
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts	OMIM:214100
Cornelia De Lange Syndrome 1	Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu...	OMIM:122470
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria	OMIM:619377
Williams Syndrome	Mitral regurgitation, Hypertrophic cardiomyopathy, Renal insufficiency, Renal duplication, Hypogo...	ORPHA:904
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Azoospermia, Renal insufficiency, Nephrolith...	ORPHA:534
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension	ORPHA:2750
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia, Hypertension	OMIM:311200
Holoprosencephaly	Proteinuria, Hypoplasia of penis, Abnormality of the urinary system, Arrhythmia	ORPHA:2162
Gaucher Disease Type 3	Hematuria, Proteinuria, Pulmonary arterial hypertension	ORPHA:77261
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Retinal hemorrhage, Proteinuria...	ORPHA:191
Wilson Disease	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein...	OMIM:277900
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Sinus bradycardia	OMIM:619482
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Vi...	ORPHA:91500
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Aymé-Gripp Syndrome	Proteinuria, Pericarditis	ORPHA:1272
Aregenerative Anemia	Abnormal circulating interleukin concentration	ORPHA:101096
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Azoospermia	ORPHA:168569
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis	OMIM:230600
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H...	ORPHA:391487
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Tricuspid regurgitation, Mitral regurgitation	OMIM:619127
Niemann-Pick Disease, Type C2	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Von Hippel-Lindau Disease	Myocarditis, Epididymal cyst, Papillary cystadenoma of the epididymis, Polycythemia	ORPHA:892
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr...	ORPHA:227990
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Graft Versus Host Disease	Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Decr...	ORPHA:227982
Listeriosis	Brain abscess, Abscess, Hepatic granulomatosis, Granulomatosis, Splenic abscess, Abnormal cellula...	ORPHA:533
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:309000
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Azoospermia, Histiocytosis, Splenomegaly	OMIM:602782
Floating-Harbor Syndrome	Atopic dermatitis, Varicocele, Recurrent otitis media, Glandular hypospadias, Cryptorchidism, Epi...	OMIM:136140
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:222700
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cerebral hemorrhage	OMIM:616682
Gaucher Disease	Hematuria, Proteinuria, Pulmonary arterial hypertension	ORPHA:355
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypogonadism, Moderate albuminuria	OMIM:614231
Granulomatosis With Polyangiitis	Granulomatosis	OMIM:608710
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria	OMIM:619269
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias	ORPHA:2044
Parenteral Nutrition-Associated Cholestasis	Abnormality of cytokine secretion	ORPHA:567983
Holt-Oram Syndrome	Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia...	OMIM:142900
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis	OMIM:619525
Pmm2-Cdg	Hypertrophic cardiomyopathy, Proteinuria, Angina pectoris, Hypogonadotropic hypogonadism, Abnorma...	ORPHA:79318
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep...	ORPHA:95455

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 Ido1

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 Ido1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Indoleamine 2,3-dioxygenase 1 activation in mature cDC1 promotes tolerogenic education of inflammatory cDC2 via metabolic communication.	Immunity (June 2022)	Ido1^{tm1c(EUCOMM)Wtsi} Ido1^{tm1a(EUCOMM)Wtsi}	PMC9220322
3-hydroxy-L-kynurenamine is an immunomodulatory biogenic amine.	Nature communications (July 2021)	Ido1^{tm1a(EUCOMM)Wtsi}	PMC8295276
Immunosuppressive IDO in Cancer: Mechanisms of Action, Animal Models, and Targeting Strategies.	Frontiers in immunology (June 2020)	Ido1^{tm1c(EUCOMM)Wtsi}	PMC7308527
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ido1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ido1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ido1^{tm1a(EUCOMM)Wtsi}	PMC6459510
IDO1 and Kynurenine Pathway Metabolites Activate PI3K-Akt Signaling in the Neoplastic Colon Epithelium to Promote Cancer Cell Proliferation and Inhibit Apoptosis.	Cancer research (January 2019)	Ido1^{tm1c(EUCOMM)Wtsi} Ido1^{tm1a(EUCOMM)Wtsi}	30679179
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ido1^{tm1a(EUCOMM)Wtsi}	PMC5827107

Order Mouse and ES Cells

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
Ido1^{tm40926(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ido1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ido1^{tm40925(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ido1^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ido1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us